ID              TGFBR2_R537P(1); standard; MUTATION; PK
Accession       K00001
Systematic name g.85628G>C, c.1610G>C, r.1610g>c, p.Arg537Pro
Original code   K331
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7664267
RefAuthors      Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., 
RefAuthors      Gesmonde, J., Vellucci, V. F., Reiss, M.
RefTitle        Missense mutations of the transforming growth factor beta 
RefTitle        type II receptor in human head and neck squamous carcinoma 
RefTitle        cells.
RefLoc          Cancer Res 55:3982-3987 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85628
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3182
Feature           /codon: cgc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 537
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_E526Q(1); standard; MUTATION; PK
Accession       K00002
Systematic name g.85594G>C, c.1576G>C, r.1576g>c, p.Glu526Gln
Original code   K332
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7664267
RefAuthors      Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., 
RefAuthors      Gesmonde, J., Vellucci, V. F., Reiss, M.
RefTitle        Missense mutations of the transforming growth factor beta 
RefTitle        type II receptor in human head and neck squamous carcinoma 
RefTitle        cells.
RefLoc          Cancer Res 55:3982-3987 (1995)
DB CrossRef     OMIM; 190182.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85594
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3148
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 526
Feature           /change: E -> Q
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_T458A(1); standard; MUTATION; PK
Accession       K00003
Systematic name g.68345A>G, c.1372A>G, r.1372a>g, p.Thr458Ala
Original code   K61
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9589477
RefAuthors      Yasumi, K., Guo, R. J., Hanai, H., Arai, H., Kaneko, E., 
RefAuthors      Konno, H., Takenoshita, S., Hagiwara, K., Sugimura, H.
RefTitle        Transforming growth factor beta type II receptor (TGF beta 
RefTitle        RII) mutation in gastric lymphoma without mutator 
RefTitle        phenotype.
RefLoc          Pathol Int 48:134-137 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68345
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2944
Feature           /codon: aca -> gca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 458
Feature           /change: T -> A
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_T315M(1); standard; MUTATION; PK
Accession       K00004
Systematic name g.66250C>T, c.944C>T, r.944c>u, p.Thr315Met
Original code   K63
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9590282
RefAuthors      Lu, S. L., Kawabata, M., Imamura, T., Akiyama, Y., Nomizu, 
RefAuthors      T., Miyazono, K., Yuasa, Y.
RefTitle        HNPCC associated with germline mutation in the TGF-beta 
RefTitle        type II receptor gene.
RefLoc          Nat Genet 19:17-18 (1998)
RefNumber       [6]
RefCrossRef     PUBMED; 16283890
RefAuthors      Ki, C. S., Jin, D. K., Chang, S. H., Kim, J. E., Kim, J. 
RefAuthors      W., Park, B. K., Choi, J. H., Park, I. S., Yoo, H. W.
RefTitle        Identification of a novel TGFBR2 gene mutation in a Korean 
RefTitle        patient with Loeys-Dietz aortic aneurysm syndrome; no 
RefTitle        mutation in TGFBR2 gene in 30 patients with classic 
RefTitle        Marfan's syndrome.
RefLoc          Clin Genet 68:561-3
DB CrossRef     OMIM; 190182.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66250
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2516
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 315
Feature           /change: T -> M
Feature           /domain: PK
Diagnosis       Hereditary nonpolyposis colorectal cancer
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TGFBR2_D405G(1); standard; MUTATION; PK
Accession       K00005
Systematic name g.66520A>G, c.1214A>G, r.1214a>g, p.Asp405Gly
Original code   K62
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8668164
RefAuthors      Knaus, P. I., Lindemann, D., DeCoteau, J. F., Perlman, R., 
RefAuthors      Yankelev, H., Hille, M., Kadin, M. E., Lodish, H. F.
RefTitle        A dominant inhibitory mutant of the type II transforming 
RefTitle        growth factor beta receptor in the malignant progression 
RefTitle        of a cutaneous T-cell lymphoma.
RefLoc          Mol Cell Biol 16:3480-3489 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66520
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2786
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 405
Feature           /change: D -> G
Feature           /domain: PK
Diagnosis       Cutaneous T-cell lymphoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_S227A(1); standard; MUTATION; PK1
Accession       K00006
Systematic name g.80178T>G, c.679T>G, r.679u>g, p.Ser227Ala
Original code   K318
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 8955270
RefAuthors      Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., 
RefAuthors      Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the kinase rsk-2 associated with coffin-lowry 
RefTitle        syndrome.
RefLoc          Nature 384:567-570 (1996)
DB CrossRef     OMIM; 300075.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80178
Feature           /change: t -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 679
Feature           /codon: tct -> gct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 227
Feature           /change: S -> A
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_G75V(1); standard; MUTATION; PK1
Accession       K00007
Systematic name g.58794G>T, c.224G>T, r.224g>u, p.Gly75Val
Original code   K317
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8955270
RefAuthors      Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., 
RefAuthors      Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the kinase rsk-2 associated with coffin-lowry 
RefTitle        syndrome.
RefLoc          Nature 384:567-570 (1996)
RefNumber       [9]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with Coffin-Lowry syndrome.
RefLoc          Hum Mutat 17:103-16
DB CrossRef     OMIM; 300075.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58794
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 224
Feature           /codon: ggg -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 75
Feature           /change: G -> V
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_W645X(1); standard; MUTATION; PK2
Accession       K00008
Systematic name g.106432G>A, c.1934G>A, r.1934g>a, p.Trp645X
Original code   K307
Description     A point mutation in the exon 20 leading to a premature stop
Description     codon in the PK2 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 106432
Feature           /change: g -> a
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1934
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 645
Feature           /change: W -> X
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_V82F(1); standard; MUTATION; PK1
Accession       K00009
Systematic name g.63998G>T, c.244G>T, r.244g>u, p.Val82Phe
Original code   K294
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
DB CrossRef     OMIM; 300075.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 63998
Feature           /change: g -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 244
Feature           /codon: gtt -> ttt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 82
Feature           /change: V -> F
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_R558X(1); standard; MUTATION; PK2
Accession       K00010
Systematic name g.103110C>T, c.1672C>T, r.1672c>u, p.Arg558X
Original code   K306
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the PK2 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 8955270
RefAuthors      Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., 
RefAuthors      Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the kinase rsk-2 associated with coffin-lowry 
RefTitle        syndrome.
RefLoc          Nature 384:567-570 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103110
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1672
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 558
Feature           /change: R -> X
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              RPS6KA3_R514X(1); standard; MUTATION; PK2
Accession       K00011
Systematic name g.100450C>T, c.1540C>T, r.1540c>u, p.Arg514X
Original code   K305
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK2 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100450
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1540
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 514
Feature           /change: R -> X
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_R305X(1); standard; MUTATION; PK1
Accession       K00012
Systematic name g.91084C>T, c.913C>T, r.913c>u, p.Arg305X
Original code   K303
Description     A point mutation in the exon 11 leading to a premature stop
Description     codon in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91084
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 913
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 305
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_R273X(1); standard; MUTATION; PK1
Accession       K00013
Systematic name g.81777C>T, c.817C>T, r.817c>u, p.Arg273X
Original code   K302
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81777
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 817
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 273
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_R112X(1); standard; MUTATION; PK1
Accession       K00014
Systematic name g.72964C>T, c.334C>T, r.334c>u, p.Arg112X
Original code   K299
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72964
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 334
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 112
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_R110X(1); standard; MUTATION; PK1
Accession       K00015
Systematic name g.72958C>T, c.328C>T, r.328c>u, p.Arg110X
Original code   K298
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72958
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 328
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 110
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#M99X102(1); standard; MUTATION; PK1
Accession       K00016
Systematic name g.64050delT, c.296delT, r.296delu, p.Met99fsX3
Original code   K295
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64050
Feature           /change: -t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 296
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 99
Feature           /change: M -> RRYX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#I88X99(1); standard; MUTATION; PK1
Accession       K00017
Systematic name g.64016delA, c.262delA, r.262dela, p.Ile88fsX11
Original code   K296
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64016
Feature           /change: -a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 262
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 88
Feature           /change: I -> SQALMLGSFM PX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_H127Q(1); standard; MUTATION; PK1
Accession       K00018
Systematic name g.73011T>G, c.381T>G, r.381u>g, p.His127Gln
Original code   K297
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73011
Feature           /change: t -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 381
Feature           /codon: cat -> cag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 127
Feature           /change: H -> Q
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_G431D(1); standard; MUTATION; PK2
Accession       K00019
Systematic name g.95294G>A, c.1292G>A, r.1292g>a, p.Gly431Asp
Original code   K304
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK2 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95294
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1292
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 431
Feature           /change: G -> D
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_D154Y(1); standard; MUTATION; PK1
Accession       K00020
Systematic name g.73886G>T, c.460G>T, r.460g>u, p.Asp154Tyr
Original code   K300
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73886
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 460
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 154
Feature           /change: D -> Y
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_A225V(1); standard; MUTATION; PK1
Accession       K00021
Systematic name g.80173C>T, c.674C>T, r.674c>u, p.Ala225Val
Original code   K301
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK1 domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80173
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 674
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 225
Feature           /change: A -> V
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_Y806C(1); standard; MUTATION; PK
Accession       K00022
Systematic name g.43492A>G, c.2417A>G, r.2417a>g, p.Tyr806Cys
Original code   K310
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 10076558
RefAuthors      Miyauchi, A., Futami, H., Hai, N., Yokozawa, T., Kuma, K., 
RefAuthors      Aoki, N., Kosugi, S., Sugano, K., Yamaguchi, K.
RefTitle        Two germline missense mutations at codons 804 and 806 of 
RefTitle        the RET proto-oncogene in the same allele in a patient 
RefTitle        with multiple endocrine neoplasia type 2B without codon 
RefTitle        918 mutation.
RefLoc          Jpn J Cancer Res 90:1-5 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43492
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2612
Feature           /codon: tac -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 806
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              RET_Y791F(1); standard; MUTATION; PK
Accession       K00023
Systematic name g.42397A>T, c.2372A>T, r.2372a>u, p.Tyr791Phe
Original code   K313
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 13)
RefNumber       [1]
RefCrossRef     PUBMED; 9506724
RefAuthors      Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, 
RefAuthors      P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W.
RefTitle        A new hot spot for mutations in the ret protooncogene 
RefTitle        causing familial medullary thyroid carcinoma and multiple 
RefTitle        endocrine neoplasia type 2A.
RefLoc          J Clin Endocrinol Metab 83:770-774 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 12566528
RefAuthors      Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., 
RefAuthors      Roesner, D., Schackert, H. K.
RefTitle        Association of germline mutations and polymorphisms of the 
RefTitle        RET proto-oncogene with idiopathic congenital central 
RefTitle        hypoventilation syndrome in 33 patients.
RefLoc          J Med Genet 40:E10 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 16388093
RefAuthors      Arum, S. M., Dahia, P. L., Schneider, K., Braverman, L. E.
RefTitle        A RET mutation with decreased penetrance in the family of 
RefTitle        a patient with a 'sporadic' pheochromocytoma.
RefLoc          Endocrine:193-198 (2005)
RefNumber       [4]
RefCrossRef     PUBMED; 16356097
RefAuthors      Vierhapper, H., Rondot, S., Schulze, E., Wagner, L., 
RefAuthors      Hanslik, S., Niederle, B., Bieglmayer, C., Kaserer, K., 
RefAuthors      Baumgartner-Parzer, S.
RefTitle        Primary hyperparathyroidism as the leading symptom in a 
RefTitle        patient with a Y791F RET mutation.
RefLoc          Thyroid:1303-1308 (2005)
RefNumber       [9]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
RefNumber       [13]
RefCrossRef     PUBMED; 19745057
RefAuthors      Margraf, R. L., Calderon, F. R., Mao, R., Wittwer, C. T.
RefTitle        RET mutation scanning update: exon 15.
RefLoc          Clin Chem 55:2059-61
RefNumber       [18]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
RefNumber       [11]
RefCrossRef     PUBMED; 17610518
RefAuthors      Tamanaha, R., Camacho, C. P., Ikejiri, E. S., Maciel, R. 
RefAuthors      M., Cerutti, J. M.
RefTitle        Y791F RET mutation and early onset of medullary thyroid 
RefTitle        carcinoma in a Brazilian kindred: evaluation of phenotype-
RefTitle        modifying effect of germline variants.
RefLoc          Clin Endocrinol (Oxf) 67:806-8
DB CrossRef     OMIM; 164761.0034
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42397
Feature           /change: a -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2567
Feature           /codon: tat -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 791
Feature           /change: Y -> F
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Hirschsprung disease
Diagnosis       Sporadic medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       
Occurrence      Families: 15; Patients: 45; Homozygotes: 0
Comment         -!-One of the patients harbored, within the Menin gene, a
Comment         -!-polymorphism (D418D) reportedly associated with sporadic
Comment         -!-primary hyperparathyroidism.
Comment         -!-Novel double mutation in the RET protooncogene,
Comment         -!-C634Y/Y791F.
//
ID              RET_S891A(1); standard; MUTATION; PK
Accession       K00024
Systematic name g.44081T>G, c.2671T>G, r.2671u>g, p.Ser891Ala
Original code   K314
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 10024437
RefAuthors      Dang, G. T., Cote, G. J., Schultz, P. N., Khorana, S., 
RefAuthors      Decker, R. A., Gagel, R. F.
RefTitle        A codon 891 exon 15 RET proto-oncogene mutation in 
RefTitle        familial medullary thyroid carcinoma: a detection 
RefTitle        strategy.
RefLoc          Mol Cell Probes 13:77-79 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 9398735
RefAuthors      Hofstra, R. M., Fattoruso, O., Quadro, L., Wu, Y., 
RefAuthors      Libroia, A., Verga, U., Colantuoni, V., Buys, C. H.
RefTitle        A novel point mutation in the intracellular domain of the 
RefTitle        ret protooncogene in a family with medullary thyroid 
RefTitle        carcinoma.
RefLoc          J Clin Endocrinol Metab 82:4176-4178 (1997)
RefNumber       [3]
RefCrossRef     PUBMED; 12686527
RefAuthors      Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., 
RefAuthors      Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. 
RefAuthors      F., Lee, J. E., Evans, D. B.
RefTitle        Multiple endocrine neoplasia type 2: evaluation of the 
RefTitle        genotype-phenotype relationship.
RefLoc          Arch Surg 138:409-16; discussion 4416 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 15292360
RefAuthors      Jimenez, C., Habra, M. A., Huang, S. C., El-Naggar, A., 
RefAuthors      Shapiro, S. E., Evans, D. B., Cote, G., Gagel, R. F.
RefTitle        Pheochromocytoma and medullary thyroid carcinoma: a new 
RefTitle        genotype-phenotype correlation of the RET protooncogene 
RefTitle        891 germline mutation.
RefLoc          J Clin Endocrinol Metab:4142-4145 (2004)
RefNumber       [9]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
RefNumber       [17]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44081
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2866
Feature           /codon: tcg -> gcg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 891
Feature           /change: S -> A
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 10; Patients: 14; Homozygotes: 0
Comment         -!-Autosomal dominant mutation
//
ID              RET_P766S(1); standard; MUTATION; PK
Accession       K00025
Systematic name g.42321C>T, c.2296C>T, r.2296c>u, p.Pro766Ser
Original code   K315
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9617347
RefAuthors      Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, 
RefAuthors      H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., 
RefAuthors      Yamashita, H.
RefTitle        Novel point mutations and allele loss at the RET locus in 
RefTitle        sporadic medullary thyroid carcinomas.
RefLoc          Jpn J Cancer Res 89:411-418 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42321
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2491
Feature           /codon: ccg -> tcg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 766
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Sporadic medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_L790F(1); standard; MUTATION; PK
Accession       K00026
Systematic name g.42395G>T, c.2370G>T, r.2370g>u, p.Leu790Phe
Original code   K311
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9506724
RefAuthors      Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, 
RefAuthors      P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W.
RefTitle        A new hot spot for mutations in the ret protooncogene 
RefTitle        causing familial medullary thyroid carcinoma and multiple 
RefTitle        endocrine neoplasia type 2A.
RefLoc          J Clin Endocrinol Metab 83:770-774 (1998)
RefNumber       [7]
RefCrossRef     PUBMED; 18062802
RefAuthors      Machens, A., Dralle, H.
RefTitle        Familial prevalence and age of RET germline mutations: 
RefTitle        implications for screening.
RefLoc          Clin Endocrinol (Oxf) 69:81-7
DB CrossRef     OMIM; 164761.0033
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42395
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2565
Feature           /codon: ttg -> ttt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 790
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 20; Patients: 63; Homozygotes: 0
//
ID              RET_L790F(2); standard; MUTATION; PK
Accession       K00027
Systematic name g.42395G>C, c.2370G>C, r.2370g>c, p.Leu790Phe
Original code   K312
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]

RefCrossRef     PUBMED; 9506724
RefAuthors      Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, 
RefAuthors      P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W.
RefTitle        A new hot spot for mutations in the ret protooncogene 
RefTitle        causing familial medullary thyroid carcinoma and multiple 
RefTitle        endocrine neoplasia type 2A.
RefLoc          J Clin Endocrinol Metab 83:770-774 (1998)
RefNumber       [13]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42395
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2565
Feature           /codon: ttg -> ttc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 790
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 3; Patients: 8; Homozygotes: 0
//
ID              RET_A919V(1); standard; MUTATION; PK
Accession       K00028
Systematic name g.45908C>T, c.2756C>T, r.2756c>u, p.Ala919Val
Original code   K316
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9617347
RefAuthors      Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, 
RefAuthors      H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., 
RefAuthors      Yamashita, H.
RefTitle        Novel point mutations and allele loss at the RET locus in 
RefTitle        sporadic medullary thyroid carcinomas.
RefLoc          Jpn J Cancer Res 89:411-418 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45908
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2951
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 919
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Sporadic medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_W942X(1); standard; MUTATION; PK
Accession       K00029
Systematic name g.47631G>A, c.2825G>A, r.2825g>a, p.Trp942X
Original code   K54
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 47631
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3020
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: RET_HUMAN: 942
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_V804M(1); standard; MUTATION; PK
Accession       K00030
Systematic name g.43485G>A, c.2410G>A, r.2410g>a, p.Val804Met
Original code   K49
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 17)
RefNumber       [1]
RefAuthors      Fatturuso O, Quadro L, Libroia A, Verga U, Lupoli G, Cascone E, 
RefAuthors      Colantuoni V.
RefTitle        "RET proto-oncogene in two families affected by familial 
RefTitle        medullary thyroid carcinoma".
RefLoc          Human mutation online 72 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 9452077
RefAuthors      Fattoruso, O., Quadro, L., Libroia, A., Verga, U., Lupoli, 
RefAuthors      G., Cascone, E., Colantuoni, V.
RefTitle        A GTG to ATG novel point mutation at codon 804 in exon 14 
RefTitle        of the RET proto-oncogene in two families affected by 
RefTitle        familial medullary thyroid carcinoma.
RefLoc          Hum Mutat Suppl 1:S167-171 (1998)
RefNumber       [3]
RefCrossRef     PUBMED; 10826520
RefAuthors      Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, 
RefAuthors      M., Hoppner, W.
RefTitle        A RET double mutation in the germline of a kindred with 
RefTitle        FMTC.
RefLoc          Exp Clin Endocrinol Diabetes 108:128-132 (2000)
RefNumber       [4]
RefCrossRef     PUBMED; 14718397
RefAuthors      Kruckeberg, K. E., Thibodeau, S. N.
RefTitle        Pyrosequencing technology as a method for the diagnosis of 
RefTitle        multiple endocrine neoplasia type 2.
RefLoc          Clin Chem : ()
RefNumber       [5]
RefCrossRef     PUBMED; 9607728
RefAuthors      Scurini, C., Quadro, L., Fattoruso, O., Verga, U., 
RefAuthors      Libroia, A., Lupoli, G., Cascone, E., Marzano, L., 
RefAuthors      Paracchi, S., Busnardo, B., Girelli, M. E., Bellastella, 
RefAuthors      A., Colantuoni, V.
RefTitle        Germline and somatic mutations of the RET proto-oncogene 
RefTitle        in apparently sporadic medullary thyroid carcinomas.
RefLoc          Mol Cell Endocrinol 137:51-57 (1998)
RefNumber       [6]
RefCrossRef     PUBMED; 11788682
RefAuthors      Menko, F. H., van der Luijt, R. B., de Valk, I. A., 
RefAuthors      Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C. 
RefAuthors      J.
RefTitle        Atypical MEN type 2B associated with two germline RET 
RefTitle        mutations on the same allele not involving codon 918.
RefLoc          J Clin Endocrinol Metab 87:393-397 (2002)
RefNumber       [7]
RefCrossRef     PUBMED; 16343097
RefAuthors      Learoyd, D. L., Gosnell, J., Elston, M. S., Saurine, T. 
RefAuthors      J., Richardson, A. L., Delbridge, L. W., Aglen, J. V., 
RefAuthors      Robinson, B. G.
RefTitle        Experience of prophylactic thyroidectomy in multiple 
RefTitle        endocrine neoplasia type 2A kindreds with RET codon 804 
RefTitle        mutations.
RefLoc          Clin Endocrinol (Oxf):636-641 (2005)
RefNumber       [8]
RefCrossRef     PUBMED; 12019403
RefAuthors      Lecube, A., Hernandez, C., Oriola, J., Galard, R., Gemar, 
RefAuthors      E., Mesa, J., Simo, R.
RefTitle        V804M RET mutation and familial medullary thyroid 
RefTitle        carcinoma: report of a large family with expression of the 
RefTitle        disease only in the homozygous gene carriers.
RefLoc          Surgery:509-514 (2002)
RefNumber       [9]
RefCrossRef     PUBMED; 15386323
RefAuthors      Gibelin, H., Bezieau, S., Misso, C., Bouin-Pineau, M. H., 
RefAuthors      Marechaud, R., Kraimps, J. L.
RefTitle        Germline RET V804M mutation associated with multiple 
RefTitle        endocrine neoplasia type 2A.
RefLoc          Br J Surg:1458-1459 (2004)
RefNumber       [18]
RefCrossRef     PUBMED;     21134561
RefAuthors      Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., 
RefAuthors      Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. 
RefAuthors      J.
RefTitle        Single nucleotide polymorphisms act as modifiers and 
RefTitle        correlate with the development of medullary and 
RefTitle        simultaneous medullary/papillary thyroid carcinomas in 2 
RefTitle        large, non-related families with the RET V804M proto-
RefTitle        oncogene mutation.
RefLoc          Surgery 148:1274-80; discussion 1280-1
RefNumber       [11]
RefCrossRef     PUBMED; 18299477
RefAuthors      Foppiani, L., Forzano, F., Ceccherini, I., Bruno, W., 
RefAuthors      Ghiorzo, P., Caroli, F., Quilici, P., Bandelloni, R., 
RefAuthors      Arlandini, A., Sartini, G., Cabria, M., Del Monte, P.
RefTitle        Uncommon association of germline mutations of RET proto-
RefTitle        oncogene and CDKN2A gene.
RefLoc          Eur J Endocrinol 158:417-22
RefNumber       [23]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
DB CrossRef     OMIM; 164761.0043
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43485
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 804
Feature           /change: V -> M
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       
Occurrence      Families: 17; Patients: 64; Homozygotes: 8
Comment         -!-4 members of a family holds also a S904C mutation in the
Comment         -!-same allele
//
ID              RET_V804L(1); standard; MUTATION; PK
Accession       K00031
Systematic name g.43485G>T, c.2410G>T, r.2410g>u, p.Val804Leu
Original code   K50
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 10)
RefNumber       [1]
RefCrossRef     PUBMED; 7784092
RefAuthors      Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, 
RefAuthors      M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., 
RefAuthors      Schlumberger, M.
RefTitle        RET mutations in exons 13 and 14 of FMTC patients.
RefLoc          Oncogene 10:2415-2419 (1995)
RefNumber       [2]
RefCrossRef     PUBMED; 14718397
RefAuthors      Kruckeberg, K. E., Thibodeau, S. N.
RefTitle        Pyrosequencing technology as a method for the diagnosis of 
RefTitle        multiple endocrine neoplasia type 2.
RefLoc          Clin Chem : ()
RefNumber       [3]
RefCrossRef     PUBMED; 12694233
RefAuthors      Patocs, A., Valkusz, Z., Igaz, P., Balogh, K., Toth, M., 
RefAuthors      Varga, I., Racz, K.
RefTitle        Segregation of the V804L mutation and S836S polymorphism 
RefTitle        of exon 14 of the RET gene in an extended kindred with 
RefTitle        familial medullary thyroid cancer.
RefLoc          Clin Genet 63:219-223 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 12686527
RefAuthors      Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., 
RefAuthors      Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. 
RefAuthors      F., Lee, J. E., Evans, D. B.
RefTitle        Multiple endocrine neoplasia type 2: evaluation of the 
RefTitle        genotype-phenotype relationship.
RefLoc          Arch Surg 138:409-16; discussion 4416 (2003)
RefNumber       [5]
RefCrossRef     PUBMED; 16343097
RefAuthors      Learoyd, D. L., Gosnell, J., Elston, M. S., Saurine, T. 
RefAuthors      J., Richardson, A. L., Delbridge, L. W., Aglen, J. V., 
RefAuthors      Robinson, B. G.
RefTitle        Experience of prophylactic thyroidectomy in multiple 
RefTitle        endocrine neoplasia type 2A kindreds with RET codon 804 
RefTitle        mutations.
RefLoc          Clin Endocrinol (Oxf):636-641 (2005)
RefNumber       [10]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
RefNumber       [18]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
DB CrossRef     OMIM; 164761.0044
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43485
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605
Feature           /codon: gtg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 804
Feature           /change: V -> L
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 11; Patients: 48; Homozygotes: 0
//
ID              RET_S922Y(1); standard; MUTATION; PK
Accession       K00032
Systematic name g.45917C>A, c.2765C>A, r.2765c>a, p.Ser922Tyr
Original code   K53
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8595427
RefAuthors      Kitamura, Y., Scavarda, N., Wells, S. A., Jackson, C. E., 
RefAuthors      Goodfellow, P. J.
RefTitle        Two maternally derived missense mutations in the tyrosine 
RefTitle        kinase domain of the RET protooncogene in a patient with 
RefTitle        de novo MEN 2B.
RefLoc          Hum Mol Genet 4:1987-1988 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45917
Feature           /change: c -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2960
Feature           /codon: tcc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 922
Feature           /change: S -> Y
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_S765P(1); standard; MUTATION; PK
Accession       K00033
Systematic name g.42318T>C, c.2293T>C, r.2293u>c, p.Ser765Pro
Original code   K44
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8114938
RefAuthors      Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., 
RefAuthors      Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., 
RefAuthors      Kaariainen, H.
RefTitle        Point mutations affecting the tyrosine kinase domain of 
RefTitle        the RET proto-oncogene in hirschsprung's disease.
RefLoc          Nature 367:377-378 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7704557
RefAuthors      Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., 
RefAuthors      Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, 
RefAuthors      S.
RefTitle        Heterogeneity and low detection rate of RET mutations in 
RefTitle        hirschsprung disease.
RefLoc          Eur J Hum Genet 2:272-280 (1994)
DB CrossRef     OMIM; 164761.0015
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42318
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2488
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 765
Feature           /change: S -> P
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_R972G(1); standard; MUTATION; PK
Accession       K00034
Systematic name g.47720A>G, c.2914A>G, r.2914a>g, p.Arg972Gly
Original code   K46
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8114938
RefAuthors      Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., 
RefAuthors      Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., 
RefAuthors      Kaariainen, H.
RefTitle        Point mutations affecting the tyrosine kinase domain of 
RefTitle        the RET proto-oncogene in hirschsprung's disease.
RefLoc          Nature 367:377-378 (1994)
DB CrossRef     OMIM; 164761.0017
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 47720
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3109
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 972
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_R897Q(1); standard; MUTATION; PK
Accession       K00035
Systematic name g.44100G>A, c.2690G>A, r.2690g>a, p.Arg897Gln
Original code   K45
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8114938
RefAuthors      Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., 
RefAuthors      Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., 
RefAuthors      Kaariainen, H.
RefTitle        Point mutations affecting the tyrosine kinase domain of 
RefTitle        the RET proto-oncogene in hirschsprung's disease.
RefLoc          Nature 367:377-378 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7704557
RefAuthors      Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., 
RefAuthors      Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, 
RefAuthors      S.
RefTitle        Heterogeneity and low detection rate of RET mutations in 
RefTitle        hirschsprung disease.
RefLoc          Eur J Hum Genet 2:272-280 (1994)
DB CrossRef     OMIM; 164761.0016
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44100
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2885
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 897
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_P973L(1); standard; MUTATION; PK
Accession       K00036
Systematic name g.47724C>T, c.2918C>T, r.2918c>u, p.Pro973Leu
Original code   K43
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7704557
RefAuthors      Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., 
RefAuthors      Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, 
RefAuthors      S.
RefTitle        Heterogeneity and low detection rate of RET mutations in 
RefTitle        hirschsprung disease.
RefLoc          Eur J Hum Genet 2:272-280 (1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 47724
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3113
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 973
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_M918T(1); standard; MUTATION; PK
Accession       K00037
Systematic name g.45905T>C, c.2753T>C, r.2753u>c, p.Met918Thr
Original code   K51
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 12)
RefNumber       [1]
RefCrossRef     PUBMED; 7906417
RefAuthors      Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, 
RefAuthors      K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., Donis-
RefAuthors      Keller, H.
RefTitle        Single missense mutation in the tyrosine kinase catalytic 
RefTitle        domain of the RET protooncogene is associated with 
RefTitle        multiple endocrine neoplasia type 2B.
RefLoc          Proc Natl Acad Sci U S A 91:1579-1583 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7911697
RefAuthors      Eng, C., Smith, D. P., Mulligan, L. M., Nagai, M. A., 
RefAuthors      Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. 
RefAuthors      F., Jackson, C. E., Tunnacliffe, A.
RefTitle        Point mutation within the tyrosine kinase domain of the 
RefTitle        RET proto-oncogene in multiple endocrine neoplasia type 2B 
RefTitle        and related sporadic tumours.
RefLoc          Hum Mol Genet 3:237-241 (1994)
RefNumber       [3]
RefCrossRef     PUBMED; 14718397
RefAuthors      Kruckeberg, K. E., Thibodeau, S. N.
RefTitle        Pyrosequencing technology as a method for the diagnosis of 
RefTitle        multiple endocrine neoplasia type 2.
RefLoc          Clin Chem : ()
RefNumber       [4]
RefCrossRef     PUBMED; 12686527
RefAuthors      Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., 
RefAuthors      Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. 
RefAuthors      F., Lee, J. E., Evans, D. B.
RefTitle        Multiple endocrine neoplasia type 2: evaluation of the 
RefTitle        genotype-phenotype relationship.
RefLoc          Arch Surg 138:409-16; discussion 4416 (2003)
RefNumber       [5]
RefCrossRef     PUBMED; 12604374
RefAuthors      Gonzalez, B., Salcedo, M., Medrano, M. E., Mantilla, A., 
RefAuthors      Quinonez, G., Benitez-Bribiesca, L., Rodriguez-Cuevas, S., 
RefAuthors      Cabrera, L., de Leon, B., Altamirano, N., Tapia, J., 
RefAuthors      Dawson, B.
RefTitle        RET oncogene mutations in medullary thyroid carcinoma in 
RefTitle        mexican families.
RefLoc          Arch Med Res 34:41-49 ()
RefNumber       [6]
RefCrossRef     PUBMED; 15181227
RefAuthors      Chang, A., Chan, W. F., Lo, C. Y., Lam, K. S.
RefTitle        Multiple endocrine neoplasia type 2B in a chinese patient.
RefLoc          Hong Kong Med J 10:206-209 ()
RefNumber       [11]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
RefNumber       [14]
RefCrossRef     PUBMED; 18252215
RefAuthors      Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. 
RefAuthors      E., Freemerman, A. J.
RefTitle        Renal aplasia in humans is associated with RET mutations.
RefLoc          Am J Hum Genet 82:344-51
DB CrossRef     OMIM; 164761.0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45905
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2948
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 918
Feature           /change: M -> T
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 48; Patients: 48; Homozygotes: 0
//
ID              RET_E921X(1); standard; MUTATION; PK
Accession       K00038
Systematic name g.45913G>T, c.2761G>T, r.2761g>u, p.Glu921X
Original code   K52
Description     A point mutation in the exon 16 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45913
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2956
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: RET_HUMAN: 921
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_E768D(1); standard; MUTATION; PK
Accession       K00039
Systematic name g.42329G>C, c.2304G>C, r.2304g>c, p.Glu768Asp
Original code   K47
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 7845675
RefAuthors      Eng, C., Smith, D. P., Mulligan, L. M., Healey, C. S., 
RefAuthors      Zvelebil, M. J., Stonehouse, T. J., Ponder, M. A., 
RefAuthors      Jackson, C. E., Waterfield, M. D., Ponder, B. A.
RefTitle        A novel point mutation in the tyrosine kinase domain of 
RefTitle        the RET proto-oncogene in sporadic medullary thyroid 
RefTitle        carcinoma and in a family with FMTC.
RefLoc          Oncogene 10:509-513 (1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7784092
RefAuthors      Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, 
RefAuthors      M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., 
RefAuthors      Schlumberger, M.
RefTitle        RET mutations in exons 13 and 14 of FMTC patients.
RefLoc          Oncogene 10:2415-2419 (1995)
RefNumber       [3]
RefCrossRef     PUBMED; 14718397
RefAuthors      Kruckeberg, K. E., Thibodeau, S. N.
RefTitle        Pyrosequencing technology as a method for the diagnosis of 
RefTitle        multiple endocrine neoplasia type 2.
RefLoc          Clin Chem (2004)
RefNumber       [4]
RefCrossRef     PUBMED; 15855933
RefAuthors      Aiello, A., Cioni, K., Gobbo, M., Collini, P., Gullo, M., 
RefAuthors      Della Torre, G., Passerini, E., Ferrando, B., Pilotti, S., 
RefAuthors      Pierotti, M. A., Pasini, B.
RefTitle        The familial medullary thyroid carcinoma-associated RET 
RefTitle        E768D mutation in a multiple endocrine neoplasia type 2A 
RefTitle        case.
RefLoc          Surgery:574-576 (2005)
RefNumber       [10]
RefCrossRef     PUBMED; 18062802
RefAuthors      Machens, A., Dralle, H.
RefTitle        Familial prevalence and age of RET germline mutations: 
RefTitle        implications for screening.
RefLoc          Clin Endocrinol (Oxf) 69:81-7
RefNumber       [17]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42329
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2499
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 768
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 13; Patients: 21; Homozygotes: 0
Comment         -!-Polymorphism
//
ID              RET_E762Q(1); standard; MUTATION; PK
Accession       K00040
Systematic name g.40668G>C, c.2284G>C, r.2284g>c, p.Glu762Gln
Original code   K42
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       1
RefAuthors      Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, 
RefAuthors      Pasini B, Tocco T, Lerone M, Cywes S, Moore S, Vanderwinden JM, 
RefAuthors      Abramowicz MJ, Kristofferson U, Larsson LT, Hamel BCJ, 
RefAuthors      Silengo M, Martuciello G, Romeo G.
RefTitle        "Heterogeneity and low detection rate of RET mutations in 
RefTitle        Hirschsprung disease".
RefLoc          Eur. J. Genet. 2:272-280 (1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 40668
Feature           /change: g -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2479
Feature           /codon: gag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 762
Feature           /change: E -> Q
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#P281X286(1); standard; MUTATION; PK
Accession       K00041
Systematic name g.15407delC, c.842delC, r.842delc, p.Pro281fsX5
Original code   K327
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 9731485
RefAuthors      Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. 
RefAuthors      Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., 
RefAuthors      Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. 
RefAuthors      H., Kim, C. S., Lee, J. Y.
RefTitle        Frequent somatic mutations in serine/threonine kinase 
RefTitle        11/peutz-jeghers syndrome gene in left-sided colon cancer.
RefLoc          Cancer Res 58:3787-3790 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 9760200
RefAuthors      Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., 
RefAuthors      Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., 
RefAuthors      Nakamura, Y.
RefTitle        Nine novel germline mutations of STK11 in ten families 
RefTitle        with peutz-jeghers syndrome.
RefLoc          Hum Genet 103:168-172 (1998)
RefNumber       [7]
RefCrossRef     PUBMED; 20082862
RefAuthors      Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., 
RefAuthors      Kim, C. H., Jung, T. H., Park, J. Y.
RefTitle        LKB1 mutations are extremely rare in Korean non-small cell 
RefTitle        lung cancers.
RefLoc          Cancer Genet Cytogenet 196:204-6
RefNumber       [9]
RefCrossRef     PUBMED; 20435009
RefAuthors      De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De 
RefAuthors      Palma, G., Rossi, G. B., Staiano, A., Izzo, P.
RefTitle        Alu-mediated genomic deletion of the serine/threonine 
RefTitle        protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.
RefLoc          Gastroenterology 138:2558-60
RefNumber       [15]
RefCrossRef     PUBMED; 17711506
RefAuthors      Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., 
RefAuthors      Takahashi, T., Yatabe, Y., Mitsudomi, T.
RefTitle        LKB1 gene mutations in Japanese lung cancer patients.
RefLoc          Cancer Sci 98:1747-51
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15407
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1180
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 281
Feature           /change: P -> RSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 7; Patients: 7; Homozygotes: 0
//
ID              STK11_P281L(1); standard; MUTATION; PK
Accession       K00042
Systematic name g.15407C>T, c.842C>T, r.842c>u, p.Pro281Leu
Original code   K325
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 9731485
RefAuthors      Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. 
RefAuthors      Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., 
RefAuthors      Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. 
RefAuthors      H., Kim, C. S., Lee, J. Y.
RefTitle        Frequent somatic mutations in serine/threonine kinase 
RefTitle        11/peutz-jeghers syndrome gene in left-sided colon cancer.
RefLoc          Cancer Res 58:3787-3790 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 14687797
RefAuthors      Kim, C. J., Cho, Y. G., Park, J. Y., Kim, T. Y., Lee, J. 
RefAuthors      H., Kim, H. S., Lee, J. W., Song, Y. H., Nam, S. W., Lee, 
RefAuthors      S. H., Yoo, N. J., Lee, J. Y., Park, W. S.
RefTitle        Genetic analysis of the LKB1/STK11 gene in hepatocellular 
RefTitle        carcinomas.
RefLoc          Eur J Cancer 40:136-141 (2004)
RefNumber       [7]
RefCrossRef     PUBMED; 20082862
RefAuthors      Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., 
RefAuthors      Kim, C. H., Jung, T. H., Park, J. Y.
RefTitle        LKB1 mutations are extremely rare in Korean non-small cell 
RefTitle        lung cancers.
RefLoc          Cancer Genet Cytogenet 196:204-6
RefNumber       [14]
RefCrossRef     PUBMED; 17711506
RefAuthors      Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., 
RefAuthors      Takahashi, T., Yatabe, Y., Mitsudomi, T.
RefTitle        LKB1 gene mutations in Japanese lung cancer patients.
RefLoc          Cancer Sci 98:1747-51
RefNumber       [18]
RefCrossRef     PUBMED; 18594528
RefAuthors      Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. 
RefAuthors      O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, 
RefAuthors      B. Y., Meyerson, M., Wong, K. K., Richards, W. G., 
RefAuthors      Sugarbaker, D. J., Johnson, B. E., Janne, P. A.
RefTitle        Mutations in the LKB1 tumour suppressor are frequently 
RefTitle        detected in tumours from Caucasian but not Asian lung 
RefTitle        cancer patients.
RefLoc          Br J Cancer 99:245-52
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15407
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1180
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 281
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Colon cancer
Diagnosis       Hepatocellular carcinoma (HCC)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 5; Patients: 8; Homozygotes: 0
//
ID              STK11_#N247-1(1); standard; MUTATION; PK
Accession       K00043
Systematic name g.15304delA, c.739delA, r.739dela, p.Asn247fsX39
Original code   K321
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9760200
RefAuthors      Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., 
RefAuthors      Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., 
RefAuthors      Nakamura, Y.
RefTitle        Nine novel germline mutations of STK11 in ten families 
RefTitle        with peutz-jeghers syndrome.
RefLoc          Hum Genet 103:168-172 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15304
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1077
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 247
Feature           /change: N -> TSPRVCTPSK GTTSTSCLRT SGRGATPSRA TVAPRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#L245X286(1); standard; MUTATION; PK
Accession       K00044
Systematic name g.15300delC, c.735delC, r.735delc, p.Tyr246fsX40
Original code   K320
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9760200
RefAuthors      Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., 
RefAuthors      Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., 
RefAuthors      Nakamura, Y.
RefTitle        Nine novel germline mutations of STK11 in ten families 
RefTitle        with peutz-jeghers syndrome.
RefLoc          Hum Genet 103:168-172 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15300
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1073
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 245
Feature           /change: L -> 
Feature           /change: LTTSPRVCTP SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#L140X160(1); standard; MUTATION; PK
Accession       K00045
Systematic name g.13454delC, c.418delC, r.418delc, p.Leu140fsX20
Original code   K319
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9760200
RefAuthors      Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., 
RefAuthors      Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., 
RefAuthors      Nakamura, Y.
RefTitle        Nine novel germline mutations of STK11 in ten families 
RefTitle        with peutz-jeghers syndrome.
RefLoc          Hum Genet 103:168-172 (1998)
RefNumber       [5]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 13454
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 756
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 140
Feature           /change: L -> WTACRRSVSQ CARPTGTSVS X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_G215D(1); standard; MUTATION; PK
Accession       K00046
Systematic name g.14714G>A, c.644G>A, r.644g>a, p.Gly215Asp
Original code   K328
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9731485
RefAuthors      Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. 
RefAuthors      Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., 
RefAuthors      Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. 
RefAuthors      H., Kim, C. S., Lee, J. Y.
RefTitle        Frequent somatic mutations in serine/threonine kinase 
RefTitle        11/peutz-jeghers syndrome gene in left-sided colon cancer.
RefLoc          Cancer Res 58:3787-3790 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14714
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 982
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 215
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Colon cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_G171S(1); standard; MUTATION; PK
Accession       K00047
Systematic name g.14506G>A, c.511G>A, r.511g>a, p.Gly171Ser
Original code   K330
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9731485
RefAuthors      Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. 
RefAuthors      Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., 
RefAuthors      Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. 
RefAuthors      H., Kim, C. S., Lee, J. Y.
RefTitle        Frequent somatic mutations in serine/threonine kinase 
RefTitle        11/peutz-jeghers syndrome gene in left-sided colon cancer.
RefLoc          Cancer Res 58:3787-3790 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14506
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 849
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 171
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Colon cancer
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_E199K(1); standard; MUTATION; PK
Accession       K00048
Systematic name g.14590G>A, c.595G>A, r.595g>a, p.Glu199Lys
Original code   K329
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9731485
RefAuthors      Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. 
RefAuthors      Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., 
RefAuthors      Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. 
RefAuthors      H., Kim, C. S., Lee, J. Y.
RefTitle        Frequent somatic mutations in serine/threonine kinase 
RefTitle        11/peutz-jeghers syndrome gene in left-sided colon cancer.
RefLoc          Cancer Res 58:3787-3790 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14590
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 933
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 199
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Colon cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_D208N(1); standard; MUTATION; PK
Accession       K00049
Systematic name g.14692G>A, c.622G>A, r.622g>a, p.Asp208Asn
Original code   K326
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9731485
RefAuthors      Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. 
RefAuthors      Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., 
RefAuthors      Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. 
RefAuthors      H., Kim, C. S., Lee, J. Y.
RefTitle        Frequent somatic mutations in serine/threonine kinase 
RefTitle        11/peutz-jeghers syndrome gene in left-sided colon cancer.
RefLoc          Cancer Res 58:3787-3790 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14692
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 960
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 208
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Colon cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y60X(1); standard; MUTATION; PK
Accession       K00050
Systematic name g.1180C>G, c.180C>G, r.180c>g, p.Tyr60X
Original code   K75
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
RefNumber       [7]
RefCrossRef     PUBMED; 15617552
RefAuthors      Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., 
RefAuthors      Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., 
RefAuthors      Sugimura, H.
RefTitle        A novel STK11 germline mutation in two siblings with Peutz-
RefTitle        Jeghers syndrome complicated by primary gastric cancer.
RefLoc          Clin Genet 67:81-6
RefNumber       [9]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [10]
RefCrossRef     PUBMED; 20497868
RefAuthors      Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C.
RefTitle        Clinical and genetic analysis of Peutz-Jeghers syndrome 
RefTitle        patients in Taiwan.
RefLoc          J Formos Med Assoc 109:354-61
RefNumber       [14]
RefCrossRef     PUBMED; 17637250
RefAuthors      Zuo, Y. G., Xu, K. J., Su, B., Ho, M. G., Liu, Y. H.
RefTitle        Two novel STK11 mutations in three Chinese families with 
RefTitle        Peutz-Jeghers syndrome.
RefLoc          Chin Med J (Engl) 120:1183-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1180
Feature           /change: c -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 518
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 60
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 7; Patients: 11; Homozygotes: 0
//
ID              STK11_Y253X(1); standard; MUTATION; PK
Accession       K00051
Systematic name g.15324C>A, c.759C>A, r.759c>a, p.Tyr253X
Original code   K69
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9425897
RefAuthors      Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, 
RefAuthors      S., Jeschke, R., Muller, O., Back, W., Zimmer, M.
RefTitle        Peutz-jeghers syndrome is caused by mutations in a novel 
RefTitle        serine threonine kinase.
RefLoc          Nat Genet 18:38-43 (1998)
DB CrossRef     OMIM; 602216.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15324
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1097
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 253
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#W239X285(1); standard; MUTATION; PK
Accession       K00052
Systematic name g.14786delG, c.716delG, r.716delg, p.Trp239fsX47
Original code   K68
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9425897
RefAuthors      Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, 
RefAuthors      S., Jeschke, R., Muller, O., Back, W., Zimmer, M.
RefTitle        Peutz-jeghers syndrome is caused by mutations in a novel 
RefTitle        serine threonine kinase.
RefLoc          Nat Genet 18:38-43 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
DB CrossRef     OMIM; 602216.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14786
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1054
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 239
Feature           /change: W -> 
Feature           /change: CRLGSPSTTS PRVCTPSKGT TSTSCLRTSG RGATPSRATV
Feature           /change: APRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_Q170X(1); standard; MUTATION; PK
Accession       K00053
Systematic name g.14503C>T, c.508C>T, r.508c>u, p.Gln170X
Original code   K67
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10208439
RefAuthors      Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, 
RefAuthors      T., Kirkin, A. F., Zeuthen, J.
RefTitle        Somatic mutation of the peutz-jeghers syndrome gene, 
RefTitle        LKB1/STK11, in malignant melanoma.
RefLoc          Oncogene 18:1777-1780 (1999)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14503
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 846
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 170
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Sporadic malignant melanoma
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 6; Homozygotes: 0
//
ID              STK11_#P281X286(2); standard; MUTATION; PK
Accession       K00054
Systematic name g.15408delG, c.843delG, r.843delg, p.Leu282fsX4
Original code   K70
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9425897
RefAuthors      Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, 
RefAuthors      S., Jeschke, R., Muller, O., Back, W., Zimmer, M.
RefTitle        Peutz-jeghers syndrome is caused by mutations in a novel 
RefTitle        serine threonine kinase.
RefLoc          Nat Genet 18:38-43 (1998)
RefNumber       [6]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
DB CrossRef     OMIM; 602216.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15408
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1181
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 281
Feature           /change: P -> PSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              STK11_L67P(1); standard; MUTATION; PK
Accession       K00055
Systematic name g.1200T>C, c.200T>C, r.200u>c, p.Leu67Pro
Original code   K74
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
DB CrossRef     OMIM; 602216.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1200
Feature           /change: t -> c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 538
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 67
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_K84X(1); standard; MUTATION; PK
Accession       K00056
Systematic name g.1250A>T, c.250A>T, r.250a>u, p.Lys84X
Original code   K76
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
RefNumber       [9]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
DB CrossRef     OMIM; 602216.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1250
Feature           /change: a -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 588
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 84
Feature           /change: K -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              STK11_#I303-3(1); standard; MUTATION; PK
Accession       K00057
Systematic name g.16081delT, c.908delT, r.908delu, p.Ile303fsX32
Original code   K77
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
DB CrossRef     OMIM; 602216.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 16081
Feature           /change: -t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1246
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 303
Feature           /change: I -> TGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_G163D(1); standard; MUTATION; PK
Accession       K00058
Systematic name g.14483G>A, c.488G>A, r.488g>a, p.Gly163Asp
Original code   K64
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9605748
RefAuthors      Avizienyte, E., Roth, S., Loukola, A., Hemminki, A., 
RefAuthors      Lothe, R. A., Stenwig, A. E., Fossa, S. D., Salovaara, 
RefAuthors      R., Aaltonen, L. A.
RefTitle        Somatic mutations in LKB1 are rare in sporadic colorectal 
RefTitle        and testicular tumors.
RefLoc          Cancer Res 58:2087-2090 (1998)
DB CrossRef     OMIM; 602216.0011
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14483
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 826
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 163
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Colon cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_E70X(1); standard; MUTATION; PK
Accession       K00059
Systematic name g.1208G>T, c.208G>T, r.208g>u, p.Glu70X
Original code   K73
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
RefNumber       [6]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1208
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 546
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 70
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_E57X(1); standard; MUTATION; PK
Accession       K00060
Systematic name g.1169G>T, c.169G>T, r.169g>u, p.Glu57X
Original code   K72
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
DB CrossRef     OMIM; 602216.0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1169
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 507
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 57
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_D194Y(1); standard; MUTATION; PK
Accession       K00061
Systematic name g.14575G>T, c.580G>T, r.580g>u, p.Asp194Tyr
Original code   K71
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 10208439
RefAuthors      Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, 
RefAuthors      T., Kirkin, A. F., Zeuthen, J.
RefTitle        Somatic mutation of the peutz-jeghers syndrome gene, 
RefTitle        LKB1/STK11, in malignant melanoma.
RefLoc          Oncogene 18:1777-1780 (1999)
RefNumber       [15]
RefCrossRef     PUBMED; 18594528
RefAuthors      Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. 
RefAuthors      O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, 
RefAuthors      B. Y., Meyerson, M., Wong, K. K., Richards, W. G., 
RefAuthors      Sugarbaker, D. J., Johnson, B. E., Janne, P. A.
RefTitle        Mutations in the LKB1 tumour suppressor are frequently 
RefTitle        detected in tumours from Caucasian but not Asian lung 
RefTitle        cancer patients.
RefLoc          Br J Cancer 99:245-52
DB CrossRef     OMIM; 602216.0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14575
Feature           /change: g -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 918
Feature           /codon: gac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 194
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Sporadic malignant melanoma
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              TEK_R849W(1); standard; MUTATION; PK
Accession       K00062
Systematic name g.49939C>T, c.2545C>T, r.2545c>u, p.Arg849Trp
Original code   K66
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 8980225
RefAuthors      Vikkula, M., Boon, L. M., Carraway, K. L., Calvert, J. T., 
RefAuthors      Diamonti, A. J., Goumnerov, B., Pasyk, K. A., Marchuk, D. 
RefAuthors      A., Warman, M. L., Cantley, L. C., Mulliken, J. B., Olsen, 
RefAuthors      B. R.
RefTitle        Vascular dysmorphogenesis caused by an activating mutation 
RefTitle        in the receptor tyrosine kinase TIE2.
RefLoc          Cell 87:1181-1190 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 10369874
RefAuthors      Calvert, J. T., Riney, T. J., Kontos, C. D., Cha, E. H., 
RefAuthors      Prieto, V. G., Shea, C. R., Berg, J. N., Nevin, N. C., 
RefAuthors      Simpson, S. A., Pasyk, K. A., Speer, M. C., Peters, K. G., 
RefAuthors      Marchuk, D. A.
RefTitle        Allelic and locus heterogeneity in inherited venous 
RefTitle        malformations.
RefLoc          Hum Mol Genet 8:1279-1289 (1999)
RefNumber       [3]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
DB CrossRef     OMIM; 600221.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 49939
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2693
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 849
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Diagnosis       
Occurrence      Families: 13; Patients: 93; Homozygotes: 0
//
ID              PAK3_R419X(1); standard; MUTATION; PK
Accession       K00063
Systematic name g.74385C>T, c.1255C>T, r.1255c>u, p.Arg419X
Original code   K65
Description     A point mutation in the exon 12 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9731525
RefAuthors      Allen, K. M., Gleeson, J. G., Bagrodia, S., Partington, M. 
RefAuthors      W., MacMillan, J. C., Cerione, R. A., Mulley, J. C., 
RefAuthors      Walsh, C. A.
RefTitle        PAK3 mutation in nonsyndromic X-linked mental retardation.
RefLoc          Nat Genet 20:25-30 (1998)
DB CrossRef     OMIM; 300142.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PAK3_DNA: 74385
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF068864; GI:6174887; AF068864: 1255
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PAK3_HUMAN: 419
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       X-linked nonsyndromic mental retardation (MRX)
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              NTRK1_R643W(1); standard; MUTATION; PK
Accession       K00064
Systematic name g.19327C>T, c.1927C>T, r.1927c>u, p.Arg643Trp
Original code   K80
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10330344
RefAuthors      Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., 
RefAuthors      Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., 
RefAuthors      Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, 
RefAuthors      Y.
RefTitle        Congenital insensitivity to pain with anhidrosis: novel 
RefTitle        mutations in the TRKA (NTRK1) gene encoding a high-
RefTitle        affinity receptor for nerve growth factor.
RefLoc          Am J Hum Genet 64:1570-1579 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 19327
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2047
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 643
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              NTRK1_#E548X651(1); standard; MUTATION; PK
Accession       K00065
Systematic name g.16493delC, c.1642delC, r.1642delc, p.Glu548fsX103
Original code   K79
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 10233776
RefAuthors      Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., 
RefAuthors      Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T.
RefTitle        A novel point mutation affecting the tyrosine kinase 
RefTitle        domain of the TRKA gene in a family with congenital 
RefTitle        insensitivity to pain with anhidrosis.
RefLoc          J Invest Dermatol 112:810-814 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 8696348
RefAuthors      Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, 
RefAuthors      K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., 
RefAuthors      Matsuda, I.
RefTitle        Mutations in the TRKA/NGF receptor gene in patients with 
RefTitle        congenital insensitivity to pain with anhidrosis.
RefLoc          Nat Genet 13:485-488 (1996)
RefNumber       [3]
RefCrossRef     PUBMED; 10982191
RefAuthors      Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., 
RefAuthors      Matsuda, I., Indo, Y.
RefTitle        Mutation and polymorphism analysis of the TRKA (NTRK1) 
RefTitle        gene encoding a high-affinity receptor for nerve growth 
RefTitle        factor in congenital insensitivity to pain with 
RefTitle        anhidrosis (CIPA) families.
RefLoc          Hum Genet 106:116-124 (2000)
DB CrossRef     OMIM; 191315.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: NTRK1_DNA: 16493
Feature           /change: -c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1762
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 548
Feature           /change: R -> 
Feature           /change: GRTSNVRLSC SPCCSTSTSC ASSASAPRAA PCSWSSSICG
Feature           /change: TGTSTASSDP MDPMPSCWLV GRMWLQAPWV WGSCWPWLAR
Feature           /change: SLRGWCTWRV CILCTGTWPH ATVX
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Diagnosis       
Occurrence      Families: 17; Patients: 27; Homozygotes: 7
//
ID              NTRK1_M581V(1); standard; MUTATION; PK
Accession       K00066
Systematic name g.16592A>G, c.1741A>G, r.1741a>g, p.Met581Val
Original code   K78
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10233776
RefAuthors      Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., 
RefAuthors      Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T.
RefTitle        A novel point mutation affecting the tyrosine kinase 
RefTitle        domain of the TRKA gene in a family with congenital 
RefTitle        insensitivity to pain with anhidrosis.
RefLoc          J Invest Dermatol 112:810-814 (1999)
DB CrossRef     OMIM; 191315.0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16592
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1861
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 581
Feature           /change: M -> V
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              NTRK1_H598Y(1); standard; MUTATION; PK
Accession       K00067
Systematic name g.19192C>T, c.1792C>T, r.1792c>u, p.His598Tyr
Original code   K82
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10330344
RefAuthors      Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., 
RefAuthors      Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., 
RefAuthors      Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, 
RefAuthors      Y.
RefTitle        Congenital insensitivity to pain with anhidrosis: novel 
RefTitle        mutations in the TRKA (NTRK1) gene encoding a high-
RefTitle        affinity receptor for nerve growth factor.
RefLoc          Am J Hum Genet 64:1570-1579 (1999)
DB CrossRef     OMIM; 191315.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 19192
Feature           /change: c -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1912
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 598
Feature           /change: H -> Y
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Possible polymorphism: Mardy, S.
Comment         -!- Miura, Y.
Comment         -!- Endo, F.
Comment         -!- Matsuda, I.
Comment         -!- Sztriha, L.
Comment         -!- Frossard, P.
Comment         -!- Moosa, A.
Comment         -!- Ismail, E. A. R.
Comment         -!- Macaya, A.
Comment         -!- Andria, G.
Comment         -!- Toscano, E.
Comment         -!- Gibson, W.
Comment         -!- Graham, G. E.
Comment         -!- Indo, Y. :    Congenital insensitivity to pain with
Comment         -!-anhidrosis: novel mutations in the TRKA (NTRK1) gene
Comment         -!-encoding a high-affinity receptor for nerve growth factor.
Comment         -!-Am. J. Hum. Genet. 64: 1570-1579, 1999.PubMed ID : 10330344
//
ID              NTRK1_G708S(1); standard; MUTATION; PK
Accession       K00068
Systematic name g.20158G>A, c.2122G>A, r.2122g>a, p.Gly708Ser
Original code   K81
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10330344
RefAuthors      Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., 
RefAuthors      Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., 
RefAuthors      Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, 
RefAuthors      Y.
RefTitle        Congenital insensitivity to pain with anhidrosis: novel 
RefTitle        mutations in the TRKA (NTRK1) gene encoding a high-
RefTitle        affinity receptor for nerve growth factor.
RefLoc          Am J Hum Genet 64:1570-1579 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 20158
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2242
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 708
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              NTRK1_G607V(1); standard; MUTATION; PK
Accession       K00069
Systematic name g.19220G>T, c.1820G>T, r.1820g>u, p.Gly607Val
Original code   K83
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10330344
RefAuthors      Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., 
RefAuthors      Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., 
RefAuthors      Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, 
RefAuthors      Y.
RefTitle        Congenital insensitivity to pain with anhidrosis: novel 
RefTitle        mutations in the TRKA (NTRK1) gene encoding a high-
RefTitle        affinity receptor for nerve growth factor.
RefLoc          Am J Hum Genet 64:1570-1579 (1999)
DB CrossRef     OMIM; 191315.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 19220
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1940
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 607
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Possible polymorphism: Mardy, S., Miura, Y., Endo, F.,
Comment         -!-Matsuda, I., Sztriha, L., Frossard, P., Moosa, A., Ismail,
Comment         -!-E. A. R., Macaya, A., Andria, G., Toscano, E., Gibson, W.,
Comment         -!-Graham, G. E., Indo, Y. :    Congenital insensitivity to
Comment         -!-pain with anhidrosis: novel mutations in the TRKA (NTRK1)
Comment         -!-gene encoding a high-affinity receptor for nerve growth
Comment         -!-factor. Am. J. Hum. Genet. 64: 1570-1579, 1999.PubMed ID :
Comment         -!-10330344
//
ID              NTRK1_G571R(1); standard; MUTATION; PK
Accession       K00070
Systematic name g.16562G>C, c.1711G>C, r.1711g>c, p.Gly571Arg
Original code   K39
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 8696348
RefAuthors      Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, 
RefAuthors      K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., 
RefAuthors      Matsuda, I.
RefTitle        Mutations in the TRKA/NGF receptor gene in patients with 
RefTitle        congenital insensitivity to pain with anhidrosis.
RefLoc          Nat Genet 13:485-488 (1996)
DB CrossRef     OMIM; 191315.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16562
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1831
Feature           /codon: ggc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 571
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_Y1230H(1); standard; MUTATION; PK
Accession       K00071
Systematic name g.111955T>C, c.3688T>C, r.3688u>c, p.Tyr1230His
Original code   K37
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111955
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3882
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1230
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: ; Patients: ; Homozygotes: 0
//
ID              MET_Y1230C(1); standard; MUTATION; PK
Accession       K00072
Systematic name g.111956A>G, c.3689A>G, r.3689a>g, p.Tyr1230Cys
Original code   K34
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
DB CrossRef     OMIM; 164860.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111956
Feature           /change: a -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3883
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1230
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_V1220I(1); standard; MUTATION; PK
Accession       K00073
Systematic name g.111925G>A, c.3658G>A, r.3658g>a, p.Val1220Ile
Original code   K32
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
DB CrossRef     OMIM; 164860.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111925
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3852
Feature           /codon: gtt -> att; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1220
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_V1188L(1); standard; MUTATION; PK
Accession       K00074
Systematic name g.110623G>T, c.3562G>T, r.3562g>u, p.Val1188Leu
Original code   K31
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
DB CrossRef     OMIM; 164860.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 110623
Feature           /change: g -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3756
Feature           /codon: gta -> tta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1188
Feature           /change: V -> L
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_M1250T(1); standard; MUTATION; PK
Accession       K00075
Systematic name g.112016T>C, c.3749T>C, r.3749u>c, p.Met1250Thr
Original code   K38
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 112016
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3943
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1250
Feature           /change: M -> T
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_M1131T(1); standard; MUTATION; PK
Accession       K00076
Systematic name g.107423T>C, c.3392T>C, r.3392u>c, p.Met1131Thr
Original code   K30
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
DB CrossRef     OMIM; 164860.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 107423
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3586
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1131
Feature           /change: M -> T
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_L1195V(1); standard; MUTATION; PK
Accession       K00077
Systematic name g.110644C>G, c.3583C>G, r.3583c>g, p.Leu1195Val
Original code   K35
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
DB CrossRef     OMIM; 164860.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 110644
Feature           /change: c -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3777
Feature           /codon: ctt -> gtt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1195
Feature           /change: L -> V
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_D1228N(1); standard; MUTATION; PK
Accession       K00078
Systematic name g.111949G>A, c.3682G>A, r.3682g>a, p.Asp1228Asn
Original code   K33
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
DB CrossRef     OMIM; 164860.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111949
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3876
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1228
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MET_D1228H(1); standard; MUTATION; PK
Accession       K00079
Systematic name g.111949G>C, c.3682G>C, r.3682g>c, p.Asp1228His
Original code   K36
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9140397
RefAuthors      Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., 
RefAuthors      Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., 
RefAuthors      Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. 
RefAuthors      R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, 
RefAuthors      M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., 
RefAuthors      Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B.
RefTitle        Germline and somatic mutations in the tyrosine kinase 
RefTitle        domain of the MET proto-oncogene in papillary renal 
RefTitle        carcinomas.
RefLoc          Nat Genet 16:68-73 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111949
Feature           /change: g -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3876
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1228
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_#K642X648(1); standard; MUTATION; PK
Accession       K00080
Systematic name g.71041delA, c.1925delA, r.1925dela, p.Val643fsX1
Original code   K26
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 1370874
RefAuthors      Spritz, R. A., Giebel, L. B., Holmes, S. A.
RefTitle        Dominant negative and loss of function mutations of the c-
RefTitle        kit (mast/stem cell growth factor receptor) proto-oncogene 
RefTitle        in human piebaldism.
RefLoc          Am J Hum Genet 50:261-269 (1992)
DB CrossRef     OMIM; 164920.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 71041
Feature           /change: -a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1946
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 642
Feature           /change: K -> KSX
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_H650P(1); standard; MUTATION; PK
Accession       K00081
Systematic name g.71065A>C, c.1949A>C, r.1949a>c, p.His650Pro
Original code   K23
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7529964
RefAuthors      Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, 
RefAuthors      J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., 
RefAuthors      Ishii, N.
RefTitle        Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism.
RefLoc          Am J Hum Genet 56:58-66 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71065
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1970
Feature           /codon: cac -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 650
Feature           /change: H -> P
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_#H630X631(1); standard; MUTATION; PK
Accession       K00082
Systematic name g.71006delT, c.1890delT, r.1890delu, p.Leu631fsX0
Original code   K27
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7529964
RefAuthors      Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, 
RefAuthors      J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., 
RefAuthors      Ishii, N.
RefTitle        Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism.
RefLoc          Am J Hum Genet 56:58-66 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 71006
Feature           /change: -t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1911
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 630
Feature           /change: H -> HX
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              KIT_H630Q(1); standard; MUTATION; PK
Accession       K00083
Systematic name g.71006T>A, c.1890T>A, r.1890u>a, p.His630Gln
Original code   K22
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7529964
RefAuthors      Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, 
RefAuthors      J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., 
RefAuthors      Ishii, N.
RefTitle        Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism.
RefLoc          Am J Hum Genet 56:58-66 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71006
Feature           /change: t -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1911
Feature           /codon: cat -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 630
Feature           /change: H -> Q
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_G664R(1); standard; MUTATION; PK
Accession       K00084
Systematic name g.71106G>A, c.1990G>A, r.1990g>a, p.Gly664Arg
Original code   K25
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 1717985
RefAuthors      Giebel, L. B., Spritz, R. A.
RefTitle        Mutation of the KIT (mast/stem cell growth factor 
RefTitle        receptor) protooncogene in human piebaldism.
RefLoc          Proc Natl Acad Sci U S A 88:8696-8699 (1991)
DB CrossRef     OMIM; 164920.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71106
Feature           /change: g -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2011
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 664
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_E861A(1); standard; MUTATION; PK
Accession       K00085
Systematic name g.79580A>C, c.2582A>C, r.2582a>c, p.Glu861Ala
Original code   K24
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7529964
RefAuthors      Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, 
RefAuthors      J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., 
RefAuthors      Ishii, N.
RefTitle        Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism.
RefLoc          Am J Hum Genet 56:58-66 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 79580
Feature           /change: a -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2603
Feature           /codon: gag -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 861
Feature           /change: E -> A
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_D820G(1); standard; MUTATION; PK
Accession       K00086
Systematic name g.76152A>G, c.2459A>G, r.2459a>g, p.Asp820Gly
Original code   K28
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9029028
RefAuthors      Pignon, J. M., Giraudier, S., Duquesnoy, P., Jouault, H., 
RefAuthors      Imbert, M., Vainchenker, W., Vernant, J. P., Tulliez, M.
RefTitle        A new c-kit mutation in a case of aggressive mast cell 
RefTitle        disease.
RefLoc          Br J Haematol 96:374-376 (1997)
RefNumber       [23]
RefCrossRef     PUBMED; 20471335
RefAuthors      Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., 
RefAuthors      Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P.
RefTitle        High frequency of concomitant mastocytosis in patients 
RefTitle        with acute myeloid leukemia exhibiting the transforming 
RefTitle        KIT mutation D816V.
RefLoc          Mol Oncol 4:335-46
DB CrossRef     OMIM; 164920.0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76152
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2480
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 820
Feature           /change: D -> G
Feature           /domain: PK
Diagnosis       Piepaldism
Diagnosis       Childhood-onset sporadic mastocytosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              KIT_D816V(1); standard; MUTATION; PK
Accession       K00087
Systematic name g.76140A>T, c.2447A>T, r.2447a>u, p.Asp816Val
Original code   K29
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 10)
RefNumber       [1]
RefCrossRef     PUBMED; 7691885
RefAuthors      Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, 
RefAuthors      H., Koshimizu, U., Sugahara, H., Butterfield, J. H., 
RefAuthors      Ashman, L. K., Kanayama, Y.
RefTitle        Identification of mutations in the coding sequence of the 
RefTitle        proto-oncogene c-kit in a human mast cell leukemia cell 
RefTitle        line causing ligand-independent activation of c-kit 
RefTitle        product.
RefLoc          J Clin Invest 92:1736-1744 (1993)
RefNumber       [2]
RefCrossRef     PUBMED; 12890804
RefAuthors      Horny, H. P., Lange, K., Sotlar, K., Valent, P.
RefTitle        Increase of bone marrow lymphocytes in systemic 
RefTitle        mastocytosis: reactive lymphocytosis or malignant 
RefTitle        lymphoma? immunohistochemical and molecular findings on 
RefTitle        routinely processed bone marrow biopsy specimens.
RefLoc          J Clin Pathol 56:575-578 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 12860006
RefAuthors      Pardanani, A., Reeder, T., Li, C. Y., Tefferi, A.
RefTitle        Eosinophils are derived from the neoplastic clone in 
RefTitle        patients with systemic mastocytosis and eosinophilia.
RefLoc          Leuk Res 27:883-885 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 12842979
RefAuthors      Pardanani, A., Ketterling, R. P., Brockman, S. R., Flynn, 
RefAuthors      H. C., Paternoster, S. F., Shearer, B. M., Reeder, T. L., 
RefAuthors      Li, C. Y., Cross, N. C., Cools, J., Gilliland, D. G., 
RefAuthors      Dewald, G. W., Tefferi, A.
RefTitle        CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, 
RefTitle        occurs in systemic mastocytosis associated with 
RefTitle        eosinophilia and predicts response to imatinib mesylate 
RefTitle        therapy.
RefLoc          Blood 102:3093-3096 (2003)
RefNumber       [5]
RefCrossRef     PUBMED; 12824871
RefAuthors      Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, 
RefAuthors      K.
RefTitle        Alterations of the c-kit gene in testicular germ cell 
RefTitle        tumors.
RefLoc          Cancer Sci 94:486-491 (2003)
RefNumber       [6]
RefCrossRef     PUBMED; 12801532
RefAuthors      Pardanani, A., Reeder, T. L., Kimlinger, T. K., Baek, J. 
RefAuthors      Y., Li, C. Y., Butterfield, J. H., Tefferi, A.
RefTitle        Flt-3 and c-kit mutation studies in a spectrum of chronic 
RefTitle        myeloid disorders including systemic mast cell disease.
RefLoc          Leuk Res 27:739-742 (2003)
RefNumber       [7]
RefCrossRef     PUBMED; 12701114
RefAuthors      Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., 
RefAuthors      Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, 
RefAuthors      M., Brynes, R. K.
RefTitle        Systemic mastocytosis with associated clonal hematological 
RefTitle        non-mast-cell lineage disease: analysis of 
RefTitle        clinicopathologic features and activating c-kit mutations.
RefLoc          Am J Hematol 73:12-17 (2003)
RefNumber       [8]
RefCrossRef     PUBMED; 12598308
RefAuthors      Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, 
RefAuthors      S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B.
RefTitle        One-step detection of c-kit point mutations using peptide 
RefTitle        nucleic acid-mediated polymerase chain reaction clamping 
RefTitle        and hybridization probes.
RefLoc          Am J Pathol 162:737-746 (2003)
RefNumber       [9]
RefCrossRef     PUBMED;  14645423
RefAuthors      Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, 
RefAuthors      C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., 
RefAuthors      Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, 
RefAuthors      B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, 
RefAuthors      C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A.
RefTitle        Kinase mutations and imatinib response in patients with 
RefTitle        metastatic gastrointestinal stromal tumor.
RefLoc          J Clin Oncol 21:4342-4349 (2003)
RefNumber       [10]
RefCrossRef     PUBMED; 16384925
RefAuthors      Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, 
RefAuthors      F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., 
RefAuthors      Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, 
RefAuthors      F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, 
RefAuthors      L., Morra, E.
RefTitle        Prognostic impact of c-KIT mutations in core binding 
RefTitle        factor leukemias: an italian retrospective study.
RefLoc          Blood:3463-3468 (2006)
RefNumber       [31]
RefCrossRef     PUBMED; 19865100
RefAuthors      Bodemer, C., Hermine, O., Palmerini, F., Yang, Y., 
RefAuthors      Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., 
RefAuthors      Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., 
RefAuthors      Launay, J. M., Barete, S., Feger, F., Arock, M., Catteau, 
RefAuthors      B., Sans, B., Stalder, J. F., Skowron, F., Thomas, L., 
RefAuthors      Lorette, G., Plantin, P., Bordigoni, P., Lortholary, O., 
RefAuthors      de Prost, Y., Moussy, A., Sobol, H., Dubreuil, P.
RefTitle        Pediatric mastocytosis is a clonal disease associated with 
RefTitle        D816V and other activating c-KIT mutations.
RefLoc          J Invest Dermatol 130:804-15
RefNumber       [35]
RefCrossRef     PUBMED; 21354053
RefAuthors      Kristensen, T., Vestergaard, H., Moller, M. B.
RefTitle        Improved detection of the KIT D816V mutation in patients 
RefTitle        with systemic mastocytosis using a quantitative and highly 
RefTitle        sensitive real-time qPCR assay.
RefLoc          J Mol Diagn 13:180-8
DB CrossRef     OMIM; 164920.0009
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76140
Feature           /change: a -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2468
Feature           /codon: gac -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 816
Feature           /change: D -> V
Feature           /domain: PK
Diagnosis       Childhood-onset sporadic mastocytosis
Diagnosis       Germ cell tumor
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 46; Patients: 49; Homozygotes: 0
Comment         -!-Patiens with t(8;21) inversion
//
ID              KIT_A621T(1); standard; MUTATION; PK
Accession       K00088
Systematic name g.70894G>A, c.1861G>A, r.1861g>a, p.Ala621Thr
Original code   K21
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7529964
RefAuthors      Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, 
RefAuthors      J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., 
RefAuthors      Ishii, N.
RefTitle        Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism.
RefLoc          Am J Hum Genet 56:58-66 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70894
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1882
Feature           /codon: gct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 621
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R411Q(1); standard; MUTATION; PK
Accession       K00089
Systematic name g.4745G>A, c.1232G>A, r.1232g>a, p.Arg411Gln
Original code   K59
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 14)
RefNumber       [1]
RefCrossRef     PUBMED; 8640225
RefAuthors      Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. 
RefAuthors      J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., 
RefAuthors      Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., 
RefAuthors      Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, 
RefAuthors      M. E., Marchuk, D. A.
RefTitle        Mutations in the activin receptor-like kinase 1 gene in 
RefTitle        hereditary haemorrhagic telangiectasia type 2.
RefLoc          Nat Genet 13:189-195 (1996)
RefNumber       [4]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [10]
RefCrossRef     PUBMED; 19508727
RefAuthors      Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., 
RefAuthors      Riedel, F., Hoermann, K., Bugert, P.
RefTitle        Mutation analysis of 'Endoglin' and 'Activin receptor-like 
RefTitle        kinase' genes in German patients with hereditary 
RefTitle        hemorrhagic telangiectasia and the value of rapid 
RefTitle        genotyping using an allele-specific PCR-technique.
RefLoc          BMC Med Genet 10:53
RefNumber       [4]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [12]
RefCrossRef     PUBMED;     14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
RefNumber       [13]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [39]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
RefNumber       [19]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [9]
RefCrossRef     PUBMED; 16470787
RefAuthors      Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, 
RefAuthors      S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, 
RefAuthors      H., Mao, R.
RefTitle        Genotype-phenotype correlation in hereditary hemorrhagic 
RefTitle        telangiectasia: mutations and manifestations.
RefLoc          Am J Med Genet A 140:463-70
RefNumber       [14]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
DB CrossRef     OMIM; 601284.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4745
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1514
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 411
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 9; Patients: 22; Homozygotes: 0
//
ID              ACVRL1_R374W(1); standard; MUTATION; PK
Accession       K00090
Systematic name g.4633C>T, c.1120C>T, r.1120c>u, p.Arg374Trp
Original code   K56
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 13)
RefNumber       [1]
RefCrossRef     PUBMED; 9245985
RefAuthors      Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. 
RefAuthors      W., Allen, W. P., Schwartz, C. E., Jackson, C. E., 
RefAuthors      Porteous, M. E., Marchuk, D. A.
RefTitle        The activin receptor-like kinase 1 gene: genomic structure 
RefTitle        and mutations in hereditary hemorrhagic telangiectasia 
RefTitle        type 2.
RefLoc          Am J Hum Genet 61:60-67 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 11170071
RefAuthors      Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., 
RefAuthors      Rasmussen, K., Green, A., Vase, P.
RefTitle        Mutations in the ALK-1 gene and the phenotype of 
RefTitle        hereditary hemorrhagic telangiectasia in two large danish 
RefTitle        families.
RefLoc          Am J Med Genet 98:298-302 (2001)
RefNumber       [8]
RefCrossRef     PUBMED; 19508727
RefAuthors      Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., 
RefAuthors      Riedel, F., Hoermann, K., Bugert, P.
RefTitle        Mutation analysis of 'Endoglin' and 'Activin receptor-like 
RefTitle        kinase' genes in German patients with hereditary 
RefTitle        hemorrhagic telangiectasia and the value of rapid 
RefTitle        genotyping using an allele-specific PCR-technique.
RefLoc          BMC Med Genet 10:53
RefNumber       [4]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-265 (2007)
RefNumber       [6]
RefCrossRef     PUBMED;     14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
RefNumber       [7]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [20]
RefCrossRef     PUBMED;     15065824
RefAuthors      Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. 
RefAuthors      M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. 
RefAuthors      H.
RefTitle        Primary pulmonary hypertension in families with hereditary 
RefTitle        haemorrhagic telangiectasia.
RefLoc          Eur Respir J 23:373-7
RefNumber       [26]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
RefNumber       [27]
RefCrossRef     PUBMED; 18285823
RefAuthors      Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, 
RefAuthors      F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, 
RefAuthors      F., Calender, A., Danesino, C., Giraud, S., Plauchu, 
RefAuthors      H., , .
RefTitle        Hereditary hemorrhagic telangiectasia: evidence for 
RefTitle        regional founder effects of ACVRL1 mutations in French and 
RefTitle        Italian patients.
RefLoc          Eur J Hum Genet 16:742-9
RefNumber       [10]
RefCrossRef     PUBMED; 16470787
RefAuthors      Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, 
RefAuthors      S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, 
RefAuthors      H., Mao, R.
RefTitle        Genotype-phenotype correlation in hereditary hemorrhagic 
RefTitle        telangiectasia: mutations and manifestations.
RefLoc          Am J Med Genet A 140:463-70
RefNumber       [15]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
DB CrossRef     OMIM; 601284.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4633
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1402
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 374
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 9; Patients: 16; Homozygotes: 0
//
ID              ACVRL1_P424T(1); standard; MUTATION; PK
Accession       K00091
Systematic name g.7534C>A, c.1270C>A, r.1270c>a, p.Pro424Thr
Original code   K57
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 9245985
RefAuthors      Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. 
RefAuthors      W., Allen, W. P., Schwartz, C. E., Jackson, C. E., 
RefAuthors      Porteous, M. E., Marchuk, D. A.
RefTitle        The activin receptor-like kinase 1 gene: genomic structure 
RefTitle        and mutations in hereditary hemorrhagic telangiectasia 
RefTitle        type 2.
RefLoc          Am J Hum Genet 61:60-67 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 18159113
RefAuthors      Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., 
RefAuthors      Furutani, M., Imamura, S., Uehara, R., Nakayama, T., 
RefAuthors      Takao, A., Nakazawa, M., Saji, T.
RefTitle        Implications of mutations of activin receptor-like kinase 
RefTitle        1 gene (ALK1) in addition to bone morphogenetic protein 
RefTitle        receptor II gene (BMPR2) in children with pulmonary 
RefTitle        arterial hypertension.
RefLoc          Circ J 72:127-33
RefNumber       [18]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [4]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [6]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7534
Feature           /change: c -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1552
Feature           /codon: ccc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 424
Feature           /change: P -> T
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
Comment         -!-Idiopathic pulmonary arterial hypertension(IPAH)
//
ID              ACVRL1_M376R(1); standard; MUTATION; PK
Accession       K00092
Systematic name g.4640T>G, c.1127T>G, r.1127u>g, p.Met376Arg
Original code   K58
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8640225
RefAuthors      Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. 
RefAuthors      J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., 
RefAuthors      Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., 
RefAuthors      Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, 
RefAuthors      M. E., Marchuk, D. A.
RefTitle        Mutations in the activin receptor-like kinase 1 gene in 
RefTitle        hereditary haemorrhagic telangiectasia type 2.
RefLoc          Nat Genet 13:189-195 (1996)
RefNumber       [3]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
DB CrossRef     OMIM; 601284.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4640
Feature           /change: t -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1409
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 376
Feature           /change: M -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 8; Homozygotes: 0
//
ID              INSR_W1227S(1); standard; MUTATION; PK
Accession       K00093
Systematic name g.175329G>C, c.3680G>C, r.3680g>c, p.Trp1227Ser
Original code   K17
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 2460770
RefAuthors      Moller, D. E., Flier, J. S.
RefTitle        Detection of an alteration in the insulin-receptor gene in 
RefTitle        a patient with insulin resistance, acanthosis nigricans, 
RefTitle        and the polycystic ovary syndrome (type A insulin 
RefTitle        resistance).
RefLoc          N Engl J Med 319:1526-1529 (1988)
DB CrossRef     OMIM; 147670.0009
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 175329
Feature           /change: g -> c
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3818
Feature           /codon: tgg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1227
Feature           /change: W -> S
Feature           /domain: PK
Diagnosis       Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              INSR_W1220L(1); standard; MUTATION; PK
Accession       K00094
Systematic name g.174272G>T, c.3659G>T, r.3659g>u, p.Trp1220Leu
Original code   K16
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7983039
RefAuthors      Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, 
RefAuthors      H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, 
RefAuthors      Y.
RefTitle        Two naturally occurring mutations in the kinase domain of 
RefTitle        insulin receptor accelerate degradation of the insulin 
RefTitle        receptor and impair the kinase activity.
RefLoc          J Biol Chem 269:31019-31027 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 8390949
RefAuthors      Iwanishi, M., Haruta, T., Takata, Y., Ishibashi, O., 
RefAuthors      Sasaoka, T., Egawa, K., Imamura, T., Naitou, K., Itazu, 
RefAuthors      T., Kobayashi, M.
RefTitle        A mutation (trp1193-->leu1193) in the tyrosine kinase 
RefTitle        domain of the insulin receptor associated with type A 
RefTitle        syndrome of insulin resistance.
RefLoc          Diabetologia 36:414-422 (1993)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174272
Feature           /change: g -> t
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3797
Feature           /codon: tgg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1220
Feature           /change: W -> L
Feature           /domain: PK
Diagnosis       Insulin resistance, type A
Occurrence      Families: 3; Patients: 6; Homozygotes: 0
//
ID              INSR_R1201Q(1); standard; MUTATION; PK
Accession       K00095
Systematic name g.174215G>A, c.3602G>A, r.3602g>a, p.Arg1201Gln
Original code   K13
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8082780
RefAuthors      Moritz, W., Froesch, E. R., Boni-Schnetzler, M.
RefTitle        Functional properties of a heterozygous mutation (arg1174--
RefTitle        >gln) in the tyrosine kinase domain of the insulin 
RefTitle        receptor from a type A insulin resistant patient.
RefLoc          FEBS Lett 351:276-280 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 8288049
RefAuthors      Moller, D. E., Cohen, O., Yamaguchi, Y., Assiz, R., 
RefAuthors      Grigorescu, F., Eberle, A., Morrow, L. A., Moses, A. C., 
RefAuthors      Flier, J. S.
RefTitle        Prevalence of mutations in the insulin receptor gene in 
RefTitle        subjects with features of the type A syndrome of insulin 
RefTitle        resistance.
RefLoc          Diabetes 43:247-255 (1994)
RefNumber       [3]
RefCrossRef     PUBMED; 9703342
RefAuthors      Whitehead, J. P., Soos, M. A., Jackson, R., Tasic, V., 
RefAuthors      Kocova, M., O'Rahilly, S.
RefTitle        Multiple molecular mechanisms of insulin receptor 
RefTitle        dysfunction in a patient with donohue syndrome.
RefLoc          Diabetes 47:1362-1364 (1998)
DB CrossRef     OMIM; 147670.0030
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174215
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3740
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1201
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome
Diagnosis       Leprechaunism
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              INSR_R1191Q(1); standard; MUTATION; PK
Accession       K00096
Systematic name g.174185G>A, c.3572G>A, r.3572g>a, p.Arg1191Gln
Original code   K12
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 1607076
RefAuthors      Cocozza, S., Porcellini, A., Riccardi, G., Monticelli, A., 
RefAuthors      Condorelli, G., Ferrara, A., Pianese, L., Miele, C., 
RefAuthors      Capaldo, B., Beguinot, F.
RefTitle        NIDDM associated with mutation in tyrosine kinase domain 
RefTitle        of insulin receptor gene.
RefLoc          Diabetes 41:521-526 (1992)
DB CrossRef     OMIM; 147670.0021
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174185
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3710
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1191
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Noninsulin-dependent diabetes mellitus (NIDDM)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              INSR_R1158Q(1); standard; MUTATION; PK
Accession       K00097
Systematic name g.172222G>A, c.3473G>A, r.3473g>a, p.Arg1158Gln
Original code   K8
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7512563
RefAuthors      Kishimoto, M., Hashiramoto, M., Yonezawa, K., Shii, K., 
RefAuthors      Kazumi, T., Kasuga, M.
RefTitle        Substitution of glutamine for arginine 1131. A newly 
RefTitle        identified mutation in the catalytic loop of the tyrosine 
RefTitle        kinase domain of the human insulin receptor.
RefLoc          J Biol Chem 269:11349-11355 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 1470163
RefAuthors      Kasuga, M., Kishimoto, M., Hashiramoto, M., Yonezawa, K., 
RefAuthors      Kazumi, T., Hagino, H., Shii, K.
RefTitle        [insulin receptor arg1131-->gln: a novel mutation in the 
RefTitle        catalytic loop of insulin receptor observed in insulin 
RefTitle        resistant diabetes]
RefLoc          Nippon Geka Gakkai Zasshi 93:968-971 (1992)
RefNumber       [3]
RefCrossRef     PUBMED; 10443650
RefAuthors      Longo, N., Wang, Y., Pasquali, M.
RefTitle        Progressive decline in insulin levels in rabson-mendenhall 
RefTitle        syndrome.
RefLoc          J Clin Endocrinol Metab 84:2623-2629 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 172222
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3611
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1158
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 2; Patients: 6; Homozygotes: 0
//
ID              INSR_P1205L(1); standard; MUTATION; PK
Accession       K00098
Systematic name g.174227C>T, c.3614C>T, r.3614c>u, p.Pro1205Leu
Original code   K14
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 1563582
RefAuthors      Kim, H., Kadowaki, H., Sakura, H., Odawara, M., Momomura, 
RefAuthors      K., Takahashi, Y., Miyazaki, Y., Ohtani, T., Akanuma, Y., 
RefAuthors      Yazaki, Y.
RefTitle        Detection of mutations in the insulin receptor gene in 
RefTitle        patients with insulin resistance by analysis of single-
RefTitle        stranded conformational polymorphisms.
RefLoc          Diabetologia 35:261-266 (1992)
RefNumber       [2]
RefCrossRef     PUBMED; 8314008
RefAuthors      Krook, A., Kumar, S., Laing, I., Boulton, A. J., Wass, J. 
RefAuthors      A., O'Rahilly, S.
RefTitle        Molecular scanning of the insulin receptor gene in 
RefTitle        syndromes of insulin resistance.
RefLoc          Diabetes 43:357-368 (1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174227
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3752
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1205
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Insulin resistance
Diagnosis       Insulin resistance, type A
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              INSR_M1180I(1); standard; MUTATION; PK
Accession       K00099
Systematic name g.174153G>A, c.3540G>A, r.3540g>a, p.Met1180Ile
Original code   K11
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 1890161
RefAuthors      Cama, A., de la Luz Sierra, M., Ottini, L., Kadowaki, T., 
RefAuthors      Gorden, P., Imperato-McGinley, J., Taylor, S. I.
RefTitle        A mutation in the tyrosine kinase domain of the insulin 
RefTitle        receptor associated with insulin resistance in an obese 
RefTitle        woman.
RefLoc          J Clin Endocrinol Metab 73:894-901 (1991)
DB CrossRef     OMIM; 147670.0031
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174153
Feature           /change: g -> a
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3678
Feature           /codon: atg -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1180
Feature           /change: M -> I
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              INSR_#M1136X1150(1); standard; MUTATION; PK
Accession       K00100
Systematic name g.172157delG, c.3408delG, r.3408delg, p.Met1136fsX14
Original code   K18
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9299395
RefAuthors      Kadowaki, H., Takahashi, Y., Ando, A., Momomura, K., 
RefAuthors      Kaburagi, Y., Quin, J. D., MacCuish, A. C., Koda, N., 
RefAuthors      Fukushima, Y., Taylor, S. I., Akanuma, Y., Yazaki, Y., 
RefAuthors      Kadowaki, T.
RefTitle        Four mutant alleles of the insulin receptor gene 
RefTitle        associated with genetic syndromes of extreme insulin 
RefTitle        resistance.
RefLoc          Biochem Biophys Res Commun 237:516-520 (1997)
RefNote         NOTE!!: Article termination at +10, here calculated +13!!!!
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: INSR_DNA: 172157
Feature           /change: -g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3546
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1136
Feature           /change: M -> IFRWRQRLLT GWPTX
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              INSR_K1095E(1); standard; MUTATION; PK
Accession       K00101
Systematic name g.171927A>G, c.3283A>G, r.3283a>g, p.Lys1095Glu
Original code   K7
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 2040394
RefAuthors      O'Rahilly, S., Choi, W. H., Patel, P., Turner, R. C., 
RefAuthors      Flier, J. S., Moller, D. E.
RefTitle        Detection of mutations in insulin-receptor gene in NIDDM 
RefTitle        patients by analysis of single-stranded conformation 
RefTitle        polymorphisms.
RefLoc          Diabetes 40:777-782 (1991)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 171927
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3421
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1095
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Noninsulin-dependent diabetes mellitus (NIDDM)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              INSR_E1206D(1); standard; MUTATION; PK
Accession       K00102
Systematic name g.174231G>C, c.3618G>C, r.3618g>c, p.Glu1206Asp
Original code   K15
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7983039
RefAuthors      Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, 
RefAuthors      H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, 
RefAuthors      Y.
RefTitle        Two naturally occurring mutations in the kinase domain of 
RefTitle        insulin receptor accelerate degradation of the insulin 
RefTitle        receptor and impair the kinase activity.
RefLoc          J Biol Chem 269:31019-31027 (1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174231
Feature           /change: g -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3756
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1206
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Leprechaunism
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              INSR_A1162E(1); standard; MUTATION; PK
Accession       K00103
Systematic name g.172234C>A, c.3485C>A, r.3485c>a, p.Ala1162Glu
Original code   K10
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 1890161
RefAuthors      Cama, A., de la Luz Sierra, M., Ottini, L., Kadowaki, T., 
RefAuthors      Gorden, P., Imperato-McGinley, J., Taylor, S. I.
RefTitle        A mutation in the tyrosine kinase domain of the insulin 
RefTitle        receptor associated with insulin resistance in an obese 
RefTitle        woman.
RefLoc          J Clin Endocrinol Metab 73:894-901 (1991)
RefNumber       [2]
RefCrossRef     PUBMED; 8096518
RefAuthors      Cama, A., de la Luz Sierra, M., Quon, M. J., Ottini, L., 
RefAuthors      Gorden, P., Taylor, S. I.
RefTitle        Substitution of glutamic acid for alanine 1135 in the 
RefTitle        putative 'catalytic loop' of the tyrosine kinase domain of 
RefTitle        the human insulin receptor. A mutation that impairs 
RefTitle        proteolytic processing into subunits and inhibits receptor 
RefTitle        tyrosine kinase activity.
RefLoc          J Biol Chem 268:8060-8069 (1993)
DB CrossRef     OMIM; 147670.0026
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 172234
Feature           /change: c -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3623
Feature           /codon: gcg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1162
Feature           /change: A -> E
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              INSR_A1161T(1); standard; MUTATION; PK
Accession       K00104
Systematic name g.172230G>A, c.3481G>A, r.3481g>a, p.Ala1161Thr
Original code   K9
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 2168397
RefAuthors      Moller, D. E., Yokota, A., White, M. F., Pazianos, A. G., 
RefAuthors      Flier, J. S.
RefTitle        A naturally occurring mutation of insulin receptor alanine 
RefTitle        1134 impairs tyrosine kinase function and is associated 
RefTitle        with dominantly inherited insulin resistance.
RefLoc          J Biol Chem 265:14979-14985 (1990)
DB CrossRef     OMIM; 147670.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 172230
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3619
Feature           /codon: gca -> aca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1161
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              INSR_A1075D(1); standard; MUTATION; PK
Accession       K00105
Systematic name g.169575C>A, c.3224C>A, r.3224c>a, p.Ala1075Asp
Original code   K6
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8243830
RefAuthors      Haruta, T., Takata, Y., Iwanishi, M., Maegawa, H., 
RefAuthors      Imamura, T., Egawa, K., Itazu, T., Kobayashi, M.
RefTitle        Ala1048-->asp mutation in the kinase domain of insulin 
RefTitle        receptor causes defective kinase activity and insulin 
RefTitle        resistance.
RefLoc          Diabetes 42:1837-1844 (1993)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 169575
Feature           /change: c -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3362
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1075
Feature           /change: A -> D
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_N540T(1); standard; MUTATION; PK
Accession       K00106
Systematic name g.12748A>C, c.1619A>C, r.1619a>c, p.Asn540Thr
Original code   K1
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9452043
RefAuthors      Deutz-Terlouw, P. P., Losekoot, M., Aalfs, C. M., 
RefAuthors      Hennekam, R. C., Bakker, E.
RefTitle        Asn540Thr substitution in the fibroblast growth factor 
RefTitle        receptor 3 tyrosine kinase domain causing 
RefTitle        hypochondroplasia.
RefLoc          Hum Mutat Suppl 1:S62-65 (1998)
DB CrossRef     OMIM; 134934.0018
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12748
Feature           /change: a -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1658
Feature           /codon: aac -> acc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 540
Feature           /change: N -> T
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_N540K(1); standard; MUTATION; PK
Accession       K00107
Systematic name g.12749C>G, c.1620C>G, r.1620c>g, p.Asn540Lys
Original code   K3
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 8589686
RefAuthors      Prinos, P., Costa, T., Sommer, A., Kilpatrick, M. W., 
RefAuthors      Tsipouras, P.
RefTitle        A common FGFR3 gene mutation in hypochondroplasia.
RefLoc          Hum Mol Genet 4:2097-2101 (1995)
RefNumber       [2]
RefCrossRef     PUBMED; 8880574
RefAuthors      Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, 
RefAuthors      H., Weissenbach, J., Maroteaux, P., Munnich, A., Le 
RefAuthors      Merrer, M.
RefTitle        Clinical and genetic heterogeneity of hypochondroplasia.
RefLoc          J Med Genet 33:749-752 (1996)
RefNumber       [3]
RefCrossRef     PUBMED; 14755409
RefAuthors      Kataoka, S., Sawai, H., Yamada, H., Kanazawa, N., Koyama, 
RefAuthors      K., Nishimura, G., Morikawa, M., Sakuragi, N., Minakami, 
RefAuthors      H.
RefTitle        Radiographic and genetic diagnosis of sporadic 
RefTitle        hypochondroplasia early in the neonatal period.
RefLoc          Prenat Diagn 24:45-49 (2004)
RefNumber       [41]
RefCrossRef     PUBMED; 17621485
RefAuthors      Kannu, P., Aftimos, S.
RefTitle        FGFR3 mutations and medial temporal lobe dysgenesis.
RefLoc          J Child Neurol 22:211-3
DB CrossRef     OMIM; 134934.0012
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12749
Feature           /change: c -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1659
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 540
Feature           /change: N -> K
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Diagnosis       
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
//
ID              FGFR3_N540K(2); standard; MUTATION; PK
Accession       K00108
Systematic name g.12749C>A, c.1620C>A, r.1620c>a, p.Asn540Lys
Original code   K2
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 7670477
RefAuthors      Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. 
RefAuthors      S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. 
RefAuthors      T., Francomano, C. A.
RefTitle        A recurrent mutation in the tyrosine kinase domain of 
RefTitle        fibroblast growth factor receptor 3 causes 
RefTitle        hypochondroplasia.
RefLoc          Nat Genet 10:357-359 (1995)
RefNumber       [2]
RefCrossRef     PUBMED; 8880574
RefAuthors      Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, 
RefAuthors      H., Weissenbach, J., Maroteaux, P., Munnich, A., Le 
RefAuthors      Merrer, M.
RefTitle        Clinical and genetic heterogeneity of hypochondroplasia.
RefLoc          J Med Genet 33:749-752 (1996)
RefNumber       [45]
RefCrossRef     PUBMED; 19449430
RefAuthors      Pannier, S., Martinovic, J., Heuertz, S., Delezoide, A. 
RefAuthors      L., Munnich, A., Schibler, L., Serre, V., Legeai-Mallet, 
RefAuthors      L.
RefTitle        Thanatophoric dysplasia caused by double missense FGFR3 
RefTitle        mutations.
RefLoc          Am J Med Genet A 149A:1296-301
DB CrossRef     OMIM; 134934.0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12749
Feature           /change: c -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1659
Feature           /codon: aac -> aaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 540
Feature           /change: N -> K
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Diagnosis       Thanatophoric dysplasia (TD)
Occurrence      Families: 22; Patients: 22; Homozygotes: 0
//
ID              FGFR3_K650M(1); standard; MUTATION; PK
Accession       K00109
Systematic name g.13268A>T, c.1949A>T, r.1949a>u, p.Lys650Met
Original code   K5
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 8829353
RefAuthors      Francomano, C. A., Bellus, G. A., Szabo, J., Mcintosh, I., 
RefAuthors      Dorst, J., Lee, R., Hurko, O., Fraley, A. E., Bamshad, M. J.
RefTitle        A new sceletal dysplasia with severe tibial bowing, 
RefTitle        profound developmental delay and acanthosis nigricans is 
RefTitle        caused by a lys 650 met mutation in fibroblast growth 
RefTitle        factor receptor 3 (FGFR3)
RefLoc          The american society of human genetics 46th annual 
RefLoc          meeting, san francisco, california, october 29-november 2, 
RefLoc          1996. abstracts.
RefLoc          Am J Hum Genet 59:(4 Suppl):A25 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 12743143
RefAuthors      van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., 
RefAuthors      Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., 
RefAuthors      Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C.
RefTitle        Molecular grading of urothelial cell carcinoma with 
RefTitle        fibroblast growth factor receptor 3 and MIB-1 is superior 
RefTitle        to pathologic grade for the prediction of clinical 
RefTitle        outcome.
RefLoc          J Clin Oncol 21:1912-1921 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 10671061
RefAuthors      Kitoh, H., Brodie, S. G., Kupke, K. G., Lachman, R. S., 
RefAuthors      Wilcox, W. R.
RefTitle        Lys650Met substitution in the tyrosine kinase domain of 
RefTitle        the fibroblast growth factor receptor gene causes 
RefTitle        thanatophoric dysplasia type I. mutations in brief no. 
RefTitle        199. online.
RefLoc          Hum Mutat 12:362-363 (1998)
RefNumber       [38]
RefCrossRef     PUBMED; 17392824
RefAuthors      Hafner, C., Hartmann, A., Real, F. X., Hofstaedter, F., 
RefAuthors      Landthaler, M., Vogt, T.
RefTitle        Spectrum of FGFR3 mutations in multiple intraindividual 
RefTitle        seborrheic keratoses.
RefLoc          J Invest Dermatol 127:1883-5
DB CrossRef     OMIM; 134934.0015
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13268
Feature           /change: a -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1988
Feature           /codon: aag -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 650
Feature           /change: K -> M
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Diagnosis       Thanatophoric dysplasia (TD)
Diagnosis       
Occurrence      Families: 7; Patients: 7; Homozygotes: 0
Comment         -!-Seborrheic Keratoses
//
ID              FGFR3_K650E(1); standard; MUTATION; PK
Accession       K00110
Systematic name g.13267A>G, c.1948A>G, r.1948a>g, p.Lys650Glu
Original code   K4
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            05-Apr-2004 (Rel. 2, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 7773297
RefAuthors      Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y. Z., 
RefAuthors      Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. 
RefAuthors      L., Cohn, D. H., Wasmuth, J. J.
RefTitle        Thanatophoric dysplasia (types I and II) caused by 
RefTitle        distinct mutations in fibroblast growth factor receptor 3.
RefLoc          Nat Genet 9:321-328 (1995)
RefNumber       [2]
RefCrossRef     PUBMED; 12743143
RefAuthors      van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., 
RefAuthors      Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., 
RefAuthors      Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C.
RefTitle        Molecular grading of urothelial cell carcinoma with 
RefTitle        fibroblast growth factor receptor 3 and MIB-1 is superior 
RefTitle        to pathologic grade for the prediction of clinical 
RefTitle        outcome.
RefLoc          J Clin Oncol 21:1912-1921 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 10471491
RefAuthors      Cappellen, D., De Oliveira, C., Ricol, D., de Medina, S., 
RefAuthors      Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J. P., 
RefAuthors      Radvanyi, F.
RefTitle        Frequent activating mutations of FGFR3 in human bladder 
RefTitle        and cervix carcinomas.
RefLoc          Nat Genet 23:18-20 (1999)
RefNumber       [4]
RefCrossRef     PUBMED; 14751560
RefAuthors      Legeai-Mallet, L., Benoist-Lasselin, C., Munnich, A., 
RefAuthors      Bonaventure, J.
RefTitle        Overexpression of FGFR3, stat1, stat5 and p21Cip1 
RefTitle        correlates with phenotypic severity and defective 
RefTitle        chondrocyte differentiation in FGFR3-related 
RefTitle        chondrodysplasias.
RefLoc          Bone 34:26-36 (2004)
DB CrossRef     OMIM; 134934.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13267
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1987
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 650
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Diagnosis       Hypochondroplasia
Diagnosis       Thanatophoric dysplasia (TD)
Occurrence      Families: 25; Patients: 25; Homozygotes: 0
//
ID              FGFR3_I538V(1); standard; MUTATION; PK
Accession       K00111
Systematic name g.12741A>G, c.1612A>G, r.1612a>g, p.Ile538Val
Original code   K84
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10215410
RefAuthors      Grigelioniene, G., Hagenas, L., Eklof, O., Neumeyer, L., 
RefAuthors      Haereid, P. E., Anvret, M.
RefTitle        A novel missense mutation Ile538Val in the fibroblast 
RefTitle        growth factor receptor 3 in hypochondroplasia.
RefLoc          Human Mutation, Mutation in brief #122 (1997) Online        
RefLoc          Hum Mutat 11:333 (1998)
DB CrossRef     OMIM; 134934.0019
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12741
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1651
Feature           /codon: atc -> gtc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 538
Feature           /change: I -> V
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              CDK4_R24H(1); standard; MUTATION; PK
Accession       K00112
Systematic name g.1072G>A, c.71G>A, r.71g>a, p.Arg24His
Original code   K86
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 9425228
RefAuthors      Soufir, N., Avril, M. F., Chompret, A., Demenais, F., 
RefAuthors      Bombled, J., Spatz, A., Stoppa-Lyonnet, D., Benard, J., 
RefAuthors      Bressac-de Paillerets, B.
RefTitle        Prevalence of p16 and CDK4 germline mutations in 48 
RefTitle        melanoma-prone families in france. the french familial 
RefTitle        melanoma study group.
RefLoc          Hum Mol Genet 7:209-216 (1998)
DB CrossRef     OMIM; 123829.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CDK4_DNA: 1072
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M14505; GI:1168867; HSPSKC: 298
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDK4_HUMAN: 24
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Melanoma
Occurrence      Families: 4; Patients: 32; Homozygotes: 0
Comment         -!-Patients also have a heterozygous G1193C substitution in
Comment         -!-the EDNRB gene resulting in R319P.
//
ID              CDK4_R24C(1); standard; MUTATION; PK
Accession       K00113
Systematic name g.1071C>T, c.70C>T, r.70c>u, p.Arg24Cys
Original code   K60
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 8528263
RefAuthors      Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. 
RefAuthors      A., Walker, G. J., Hayward, N., Dracopoli, N. C.
RefTitle        Germline mutations in the p16INK4a binding domain of CDK4 
RefTitle        in familial melanoma.
RefLoc          Nat Genet 12:97-99 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 7652577
RefAuthors      Wolfel, T., Hauer, M., Schneider, J., Serrano, M., Wolfel, 
RefAuthors      C., Klehmann-Hieb, E., De Plaen, E., Hankeln, T., Meyer 
RefAuthors      zum Buschenfelde, K. H., Beach, D.
RefTitle        A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T 
RefTitle        lymphocytes in a human melanoma.
RefLoc          Science 269:1281-1284 (1995)
DB CrossRef     OMIM; 123829.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CDK4_DNA: 1071
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M14505; GI:1168867; HSPSKC: 297
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDK4_HUMAN: 24
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Melanoma
Occurrence      Families: 13; Patients: 13; Homozygotes: 0
//
ID              CDK4_N41S(1); standard; MUTATION; PK
Accession       K00114
Systematic name g.1123A>G, c.122A>G, r.122a>g, p.Asn41Ser
Original code   K85
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9311594
RefAuthors      Guldberg, P., Kirkin, A. F., Gronbaek, K., thor Straten, 
RefAuthors      P., Ahrenkiel, V., Zeuthen, J.
RefTitle        Complete scanning of the CDK4 gene by denaturing gradient 
RefTitle        gel electrophoresis: a novel missense mutation but low 
RefTitle        overall frequency of mutations in sporadic metastatic 
RefTitle        malignant melanoma.
RefLoc          Int J Cancer 72:780-783 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CDK4_DNA: 1123
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M14505; GI:1168867; HSPSKC: 349
Feature           /codon: aat -> agt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDK4_HUMAN: 41
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Melanoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ZAP70_S518R(1); standard; MUTATION; TK
Accession       K00115
Systematic name g.14792C>A, c.1554C>A, r.1554c>a, p.Ser518Arg
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8202713
RefAuthors      Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A. 
RefAuthors      H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A.
RefTitle        ZAP-70 deficiency in an autosomal recessive form of severe 
RefTitle        combined immunodeficiency.
RefLoc          Science 264:1599-1601 (1994)
RefNumber       [2]
RefCrossRef     PUBMED; 9245543
RefAuthors      Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., 
RefAuthors      Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle        Phenotypic features of selective T cell deficiency 
RefTitle        characterized by absence of CD8+ T lymphocytes and 
RefTitle        undetectable mRNA for ZAP-70 kinase.
RefLoc          Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef     OMIM; 176947.0002
DB CrossRef     OMIM; 176947.0003
DB CrossRef     ZAP70base; Z0009
DB CrossRef     ZAP70base; Z0010
DB CrossRef     ZAP70base; Z0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ZAP70_DNA: 14792
Feature           /change: c -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L05148; GI:1177044; L05148: 1763
Feature           /codon: agc -> aga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ZAP70_HUMAN: 518
Feature           /change: S -> R
Feature           /domain: TK
Diagnosis       T-B- severe combined immunodeficiency
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              ZAP70_K542K(1); standard; MUTATION; TK
Accession       K00116
Systematic name g.14959G>A, c.1624G>A, r.1624g>a, p.Lys542Lys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 3)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ZAP70_DNA: 14959
Feature           /change: a -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L05148; GI:1177044; L05148: 1833
Feature           /codon: aag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ZAP70_HUMAN: 542
Feature           /change: K -> K
Feature           /domain: TK
Diagnosis       T-B- severe combined immunodeficiency
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              ZAP70_A507V(1); standard; MUTATION; TK
Accession       K00117
Systematic name g.14758C>T, c.1520C>T, r.1520c>u, p.Ala507Val
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 10748099
RefAuthors      Noraz, N., Schwarz, K., Steinberg, M., Dardalhon, V., 
RefAuthors      Rebouissou, C., Hipskind, R., Friedrich, W., Yssel, H., 
RefAuthors      Bacon, K., Taylor, N.
RefTitle        Alternative antigen receptor (TCR) signaling in T cells 
RefTitle        derived from ZAP-70-deficient patients expressing high 
RefTitle        levels of syk.
RefLoc          J Biol Chem 275:15832-15838 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 10574909
RefAuthors      Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., 
RefAuthors      Katamura, K., Koyasu, S.
RefTitle        Temperature-sensitive ZAP70 mutants degrading through a 
RefTitle        proteasome-independent pathway. restoration of a kinase 
RefTitle        domain mutant by cdc37.
RefLoc          J Biol Chem 274:34515-34518 (1999)
DB CrossRef     ZAP70base; Z0014
DB CrossRef     ZAP70base; Z0013
DB CrossRef     ZAP70base; Z0008
DB CrossRef     ZAP70base; Z0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ZAP70_DNA: 14758
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L05148; GI:1177044; L05148: 1729
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ZAP70_HUMAN: 507
Feature           /change: A -> V
Feature           /domain: TK
Diagnosis       T-B- severe combined immunodeficiency
Occurrence      Families: 2; Patients: 4; Homozygotes: 4
//
ID              ZAP70_M572L(1); standard; MUTATION; TK
Accession       K00118
Systematic name g.15049A>T, c.1714A>T, r.1714a>u, p.Met572Leu
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10574909
RefAuthors      Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., 
RefAuthors      Katamura, K., Koyasu, S.
RefTitle        Temperature-sensitive ZAP70 mutants degrading through a 
RefTitle        proteasome-independent pathway. restoration of a kinase 
RefTitle        domain mutant by cdc37.
RefLoc          J Biol Chem 274:34515-34518 (1999)
DB CrossRef     ZAP70base; Z0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ZAP70_DNA: 15049
Feature           /change: a -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L05148; GI:1177044; L05148: 1923
Feature           /codon: atg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ZAP70_HUMAN: 572
Feature           /change: M -> L
Feature           /domain: TK
Diagnosis       T-B- severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ZAP70_#K504X539(1); standard; MUTATION; TK
Accession       K00119
Systematic name g.14748delA, c.1510delA, r.1510dela, p.Lys504fsX39
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 11034358
RefAuthors      Meinl, E., Lengenfelder, D., Blank, N., Pirzer, R., 
RefAuthors      Barata, L., Hivroz, C.
RefTitle        Differential requirement of ZAP-70 for CD2-mediated 
RefTitle        activation pathways of mature human T cells.
RefLoc          J Immunol 165:3578-3583 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 8202712
RefAuthors      Elder, M. E., Lin, D., Clever, J., Chan, A. C., Hope, T. 
RefAuthors      J., Weiss, A., Parslow, T. G.
RefTitle        Human severe combined immunodeficiency due to a defect in 
RefTitle        ZAP-70, a T cell tyrosine kinase.
RefLoc          Science 264:1596-1599 (1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7671314
RefAuthors      Elder, M. E., Hope, T. J., Parslow, T. G., Umetsu, D. T., 
RefAuthors      Wara, D. W., Cowan, M. J.
RefTitle        Severe combined immunodeficiency with absence of 
RefTitle        peripheral blood CD8+ T cells due to ZAP-70 deficiency.
RefLoc          Cell Immunol 165:110-117 (1995)
RefNumber       [4]
RefCrossRef     PUBMED; 8726223
RefAuthors      Elder, M. E.
RefTitle        Severe combined immunodeficiency due to a defect in the 
RefTitle        tyrosine kinase ZAP-70.
RefLoc          Pediatr Res 39:743-748 (1996)
RefNumber       [5]
RefCrossRef     PUBMED; 9245543
RefAuthors      Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., 
RefAuthors      Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle        Phenotypic features of selective T cell deficiency 
RefTitle        characterized by absence of CD8+ T lymphocytes and 
RefTitle        undetectable mRNA for ZAP-70 kinase.
RefLoc          Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef     ZAP70base; Z0011
DB CrossRef     OMIM; 176947.0004
DB CrossRef     ZAP70base; Z0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ZAP70_DNA: 14748
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: L05148; GI:1177044; L05148: 1719
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ZAP70_HUMAN: 504
Feature           /change: K -> SGTHPNASTS ASSPAAAMSG AMGSPCGRPC PTARSPTRRX
Feature           /domain: TK
Diagnosis       T-B- severe combined immunodeficiency
Occurrence      Families: 2; Patients: 2; Homozygotes: 2
//
ID              ZAP70_R465C(1); standard; MUTATION; TK
Accession       K00121
Systematic name g.14540C>T, c.1393C>T, r.1393c>u, p.Arg465Cys
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11123350
RefAuthors      Elder, M. E., Skoda-Smith, S., Kadlecek, T. A., Wang, F., 
RefAuthors      Wu, J., Weiss, A.
RefTitle        Distinct T cell developmental consequences in humans and 
RefTitle        mice expressing identical mutations in the DLAARN motif of 
RefTitle        ZAP-70.
RefLoc          J Immunol 166:656-661 (2001)
DB CrossRef     ZAP70base; Z0012
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ZAP70_DNA: 14540
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L05148; GI:1177044; L05148: 1602
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ZAP70_HUMAN: 465
Feature           /change: R -> C
Feature           /domain: TK
Diagnosis       T-B- severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              BTK_T606P(1); standard; MUTATION; TK
Accession       K00122
Systematic name g.68190A>C, c.1816A>C, r.1816a>c, p.Thr606Pro
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0593
DB CrossRef     BTKbase; A0593
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68190
Feature           /change: a -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1948
Feature           /codon: act -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 606
Feature           /change: T -> P
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
//
//
ID              BTK_L542P(1); standard; MUTATION; TK
Accession       K00126
Systematic name g.66839T>C, c.1625T>C, r.1625u>c, p.Leu542Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     BTKbase; A0896
DB CrossRef     BTKbase; A0897
DB CrossRef     OMIM; 300300.0040
DB CrossRef     SWISSCHANGE; BTK_HUMAN_50
DB CrossRef     SWISS-PROT; Q06187:542_542
DB CrossRef     BTKbase; A0095
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66839
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1757
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 542
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
Protein struct  Substrate binding
Protein struct   ref [2]
//
//
ID              BTK_L648P(1); standard; MUTATION; TK
Accession       K00128
Systematic name g.71555T>C, c.1943T>C, r.1943u>c, p.Leu648Pro
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0745
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71555
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2075
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 648
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BTK_R520Q(1); standard; MUTATION; TK
Accession       K00129
Systematic name g.65416G>A, c.1559G>A, r.1559g>a, p.Arg520Gln
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 20)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [5]
RefCrossRef     PUBMED; 7633429
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
RefNumber       [7]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     BTKbase; A0889
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
DB CrossRef     BTKbase; A0093
DB CrossRef     OMIM; 300300.0037
DB CrossRef     BTKbase; A0073
DB CrossRef     BTKbase; A0436
DB CrossRef     BTKbase; A0890
DB CrossRef     BTKbase; A0196
DB CrossRef     BTKbase; A0155
DB CrossRef     BTKbase; A0891
DB CrossRef     BTKbase; A0892
DB CrossRef     BTKbase; A0195
DB CrossRef     BTKbase; A0092
DB CrossRef     BTKbase; A0058
DB CrossRef     BTKbase; A0290
DB CrossRef     BTKbase; A0435
DB CrossRef     BTKbase; A1297
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1691
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 16; Patients: 20; Homozygotes: 0
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [1]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
Protein struct  Affects phosphotyrosine binding; ref [2]
//
ID              BTK_#V561X569(1); standard; MUTATION; TK
Accession       K00132
Systematic name g.67537T>A, c.1682T>A, r.1682u>a, p.Val561Asp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8634718
RefAuthors      Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., 
RefAuthors      Webster, A. D. B., Smith, C. I. E.
RefTitle        Improved oligonucleotide primer set for molecular 
RefTitle        diagnosis of X-linked agammaglobulinemia: predominance of
RefTitle        amino acid substitutions in the catalytic domain of 
RefTitle        Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 4:2403-2405(1995)
DB CrossRef     BTKbase; A0205
DB CrossRef     BTKbase; A0205
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67537
Feature           /change: t -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1814
Feature           /codon: gtc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 561
Feature           /change: V -> D
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_Q459X(1); standard; MUTATION; TK
Accession       K00133
Systematic name g.65232C>T, c.1375C>T, r.1375c>u, p.Gln459X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0311
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65232
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1507
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 459
Feature           /change: Q -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_E636X(1); standard; MUTATION; TK
Accession       K00134
Systematic name g.68280G>T, c.1906G>T, r.1906g>u, p.Glu636X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8162056
RefAuthors      Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, 
RefAuthors      A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle        Mutation detection in the X-linked agammaglobulinemia 
RefTitle        gene, BTK, using single strand conformation polymorphism 
RefTitle        analysis
RefLoc          Hum. Molec. Genet. 3:79-83(1994)
DB CrossRef     OMIM; 300300.0049
DB CrossRef     BTKbase; A0019
DB CrossRef     BTKbase; A0021
DB CrossRef     BTKbase; A0020
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68280
Feature           /change: g -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2038
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 636
Feature           /change: E -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_K558X(1); standard; MUTATION; TK
Accession       K00135
Systematic name g.67527A>T, c.1672A>T, r.1672a>u, p.Lys558X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (03-Sep-1996) to the BTKbase.
RefLoc          Ph.D. Sau-Ping Kwan; e-mail spkwan@rush.edu
DB CrossRef     BTKbase; A0346
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67527
Feature           /change: a -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1804
Feature           /codon: aaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 558
Feature           /change: K -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
//
ID              BTK_G584R(1); standard; MUTATION; TK
Accession       K00137
Systematic name g.67605G>A, c.1750G>A, r.1750g>a, p.Gly584Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefLoc          Submitted (03-Oct-2001) to BTKbase.
RefLoc          Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama 
RefLoc          Medical and Pharmaceutical University; 
RefLoc          Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp
RefNumber       [2]
RefCrossRef     Human Mutation, Mutation in Brief #446 (2001) Online
RefAuthors      Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., 
RefAuthors      Futatani, T., Tsukada, S., Miyawaki, T.
RefTitle        Bruton tyrosine kinase gene mutations in Turkish patients 
RefTitle        with presumed X-linked agammaglobulinemia
RefLoc          Hum. Mut. 18:356 (2001)
DB CrossRef     BTKbase; A0767
DB CrossRef     BTKbase; A0768
DB CrossRef     BTKbase; A0551
DB CrossRef     BTKbase; A0768
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67605
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1882
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 584
Feature           /change: G -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
//
ID              BTK_R525Q(1); standard; MUTATION; TK
Accession       K00139
Systematic name g.66788G>A, c.1574G>A, r.1574g>a, p.Arg525Gln
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 14)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [5]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
RefNumber       [6]
RefCrossRef     PUBMED; 8380905
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
RefNumber       [7]
RefCrossRef     PUBMED; 8283037
RefAuthors      Smith, C. I. E., Baskin, B., Humire-Greiff, P., Zhou
RefAuthors      J. N., Olsson, P. G., Maniar, H. S., Kjellen, P., 
RefAuthors      Lambris, J. d., Christensson, B., Hammarstrom, L., Bentley,
RefAuthors      D., Vetrie, D., Islam, K. B., Vorechovsky, I., Sideras, P.
RefTitle        Expression of Bruton's agammaglobulinemia  tyrosine kinase
RefTitle        gene, BTK, is selectively down-regulated in the T-
RefTitle        lymphocytes and plasma cells
RefLoc          J. Immunol. 152:557-565(1994)
RefNumber       [8]
RefCrossRef     PUBMED; 8090769
RefAuthors      Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors      R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors      R. A., Litman, G. W.
RefTitle        Genomic organization and structure of Bruton 
RefTitle        agammaglobulinemia tyrosine kinase: Localization of 
RefTitle        mutations associated with varied clinical presentations
RefTitle        and cource in X chromosome-linked agammaglobulinemia
RefLoc          Proc. Natl. Acad. Sci. 91:9062-9066(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_48
DB CrossRef     SWISS-PROT; Q06187:525_525
DB CrossRef     BTKbase; A0384
DB CrossRef     BTKbase; A0051
DB CrossRef     OMIM; 300300.0001
DB CrossRef     BTKbase; A0002
DB CrossRef     BTKbase; A0050
DB CrossRef     BTKbase; A0049
DB CrossRef     BTKbase; A0035
DB CrossRef     ESID; SE 0542 M78 G1
DB CrossRef     BTKbase; A0001
DB CrossRef     BTKbase; A0034
DB CrossRef     BTKbase; A0036
DB CrossRef     BTKbase; A0052
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66788
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1706
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> Q
Feature           /domain: TK
Diagnosis       Moderate XLA
Diagnosis       Classical XLA
Diagnosis       
Occurrence      Families: 6; Patients: 14; Homozygotes: 0
Protein struct  Distortion of catalytic site; ref [3]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [3]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [3]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [3]
Protein struct  Distortion of catalytic site; ref [3]
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [2]
//
ID              BTK_Y511X(1); standard; MUTATION; TK
Accession       K00140
Systematic name g.65390C>A, c.1533C>A, r.1533c>a, p.Tyr511X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef     BTKbase; A0134
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65390
Feature           /change: c -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1665
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 511
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Moderate XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
//
ID              BTK_G584W(1); standard; MUTATION; TK
Accession       K00142
Systematic name g.67605G>T, c.1750G>T, r.1750g>u, p.Gly584Trp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0757
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67605
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1882
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 584
Feature           /change: G -> W
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G462D(1); standard; MUTATION; TK
Accession       K00143
Systematic name g.65242G>A, c.1385G>A, r.1385g>a, p.Gly462Asp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     PUBMED; 12768435
RefAuthors      Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. 
RefAuthors      H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, 
RefAuthors      S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
RefTitle        Identification of mutations in the bruton's tyrosine 
RefTitle        kinase gene, including a novel genomic rearrangements 
RefTitle        resulting in large deletion, in korean X-linked 
RefTitle        agammaglobulinemia patients.
RefLoc          J. Hum. Genet. 48:322-326 (2003)
DB CrossRef     BTKbase; A0431
DB CrossRef     BTKbase; A0915
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65242
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1517
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 462
Feature           /change: G -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_L460X(1); standard; MUTATION; TK
Accession       K00144
Systematic name g.65236T>A, c.1379T>A, r.1379u>a, p.Leu460X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefLoc          Submitted (30-May-1996) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minigichi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk in patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0293
DB CrossRef     BTKbase; A0499
DB CrossRef     BTKbase; A0293
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65236
Feature           /change: t -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1511
Feature           /codon: ttg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 460
Feature           /change: L -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BTK_Y598D(1); standard; MUTATION; TK
Accession       K00145
Systematic name g.68166T>G, c.1792T>G, r.1792u>g, p.Tyr598Asp
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10887125
RefAuthors      Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., 
RefAuthors      Agematsu, K., Murakami, G., Sakazume, S., Sako, M., 
RefAuthors      Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors      K., Kishimoto, T., Miyawaki, T.
RefTitle        Genetic defect in human X-linked agammaglobulinemia 
RefTitle        impedes a maturational evolution of pro-B cells into a 
RefTitle        later stage of pre-B cells in the B-cell differentiation 
RefTitle        pathway
RefLoc          Blood 96:610-617(2000)
DB CrossRef     BTKbase; A0722
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68166
Feature           /change: t -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1924
Feature           /codon: tat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 598
Feature           /change: Y -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_S604X(1); standard; MUTATION; TK
Accession       K00146
Systematic name g.68184delA, c.1810delA, r.1810dela, p.Ser604fsX44
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11686883
RefAuthors      Usui, K., Sasahara, Y., Tazawa, R., Hagiwara, K., Tsukada, 
RefAuthors      S., Miyawaki, T., Tsuchiya, S., Nukiwa, T.
RefTitle        Recurrent pneumonia with mild hypogammaglobulinemia 
RefTitle        diagnosed as X-linked agammaglobulinemia in adults.
RefLoc          Respir. Res. 2:188-192 (2001)
DB CrossRef     BTKbase; A0862
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68184
Feature           /change: -a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1942
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 604
Feature           /change: S -> 
Feature           /change: VRLLNTLPKA YVSTGLIWLQ RRYIPSCTVV GMRKQMSVPL SKFFX
Feature           /domain: TK
Diagnosis       Mild XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G594E(1); standard; MUTATION; TK
Accession       K00147
Systematic name g.68155G>A, c.1781G>A, r.1781g>a, p.Gly594Glu
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 13)
RefNumber       [1]
RefCrossRef     PUBMED; 9753052
RefAuthors      Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., 
RefAuthors      Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., 
RefAuthors      Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. 
RefTitle        Absence of Bruton's tyrosine kinase (Btk) mutations in 
RefTitle        patients with acute myeloid leukaemia
RefLoc          Br. J. Haematol. 102:1241-1248 (1998)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minigichi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk in patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
RefNumber       [5]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0707
DB CrossRef     SWISSCHANGE; BTK_HUMAN_61
DB CrossRef     SWISS-PROT; Q06187:594_594
DB CrossRef     BTKbase; A0106
DB CrossRef     BTKbase; A0105
DB CrossRef     BTKbase; A0706
DB CrossRef     BTKbase; A0187
DB CrossRef     BTKbase; A0507
DB CrossRef     BTKbase; A0675
DB CrossRef     BTKbase; A0385
DB CrossRef     BTKbase; A0417
DB CrossRef     BTKbase; A0708
DB CrossRef     BTKbase; A0707
DB CrossRef     SWISSCHANGE; BTK_HUMAN_61
DB CrossRef     SWISS-PROT; Q06187:594_594
DB CrossRef     BTKbase; A0105
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68155
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1913
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> E
Feature           /domain: TK
Diagnosis       Mild XLA
Diagnosis       
Occurrence      Families: 10; Patients: 12; Homozygotes: 0
Protein struct  Affects substrate binding
Protein struct   ref [2]
Protein struct  Affects substrate binding
Protein struct   ref [1]
Protein struct  Affects substrate binding
Protein struct   ref [2]
Protein struct  Affects substrate binding
Protein struct   ref [1]
Protein struct  Affects substrate binding
Protein struct   ref [3]
Protein struct  Affects substrate binding
Protein struct   ref [2]
Protein struct  Affects substrate binding; ref [1]
//
ID              BTK_C502W(1); standard; MUTATION; TK
Accession       K00148
Systematic name g.65363C>G, c.1506C>G, r.1506c>g, p.Cys502Trp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_39
DB CrossRef     SWISS-PROT; Q06187:502_502
DB CrossRef     BTKbase; A0314
DB CrossRef     BTKbase; A0313
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65363
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1638
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> W
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_@S572X587(1); standard; MUTATION; TK
Accession       K00149
Systematic name g.67570_67571insT, c.1715_1716insT, r.1715_1716insu,
Systematic name p.Lys573fsX6
Description     A frame shift insertion mutation in the exon 17 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0642
DB CrossRef     BTKbase; A0643
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 67571
Feature           /change: +t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1848
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 572
Feature           /change: S -> SQVQQQIX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              BTK_@S378X403(1); standard; MUTATION; TK
Accession       K00150
Systematic name g.63920dupG, c.1131dupG, r.1131dupg, p.Ser378fsX20
Description     A frame shift duplication mutation in the exon 13 leading
Description     to a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7627183
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(1995)
DB CrossRef     OMIM; 300300.0031
DB CrossRef     BTKbase; A0060
DB CrossRef     BTKbase; A0166
DB CrossRef     BTKbase; A0059
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 63921
Feature           /change: +g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1264
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 378
Feature           /change: S -> VSTKQECTFH CRPGIRIMGN X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 5; Homozygotes: 0
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Premature stop
Protein struct  Distortion of catalytic site; ref [2]
Protein struct  Distortion of catalytic site; ref [2]
//
ID              BTK_A582V(1); standard; MUTATION; TK
Accession       K00151
Systematic name g.67600C>T, c.1745C>T, r.1745c>u, p.Ala582Val
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [4]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [4]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_56
DB CrossRef     SWISS-PROT; Q06187:582_582
DB CrossRef     BTKbase; A0104
DB CrossRef     BTKbase; A0259
DB CrossRef     BTKbase; A0122
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67600
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1877
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 582
Feature           /change: A -> V
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Destabilization, orientation of W563
Protein struct   ref [1]
Protein struct  Destabilization, orientation of W563
Protein struct   ref [2]
//
ID              BTK_P619T(1); standard; MUTATION; TK
Accession       K00152
Systematic name g.68229C>A, c.1855C>A, r.1855c>a, p.Pro619Thr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0379
DB CrossRef     BTKbase; A0379
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68229
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1987
Feature           /codon: cct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> T
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Highly conserved structurally important
Protein struct   ref [2]
Protein struct  Highly conserved structurally important; ref [2]
//
ID              BTK_S623L(1); standard; MUTATION; TK
Accession       K00154
Systematic name g.68242C>T, c.1868C>T, r.1868c>u, p.Ser623Leu
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0908
DB CrossRef     BTKbase; A0907
DB CrossRef     BTKbase; A0906
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68242
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2000
Feature           /codon: tca -> tta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 623
Feature           /change: S -> L
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 5; Homozygotes: 0
//
ID              BTK_C506Y(1); standard; MUTATION; TK
Accession       K00155
Systematic name g.65374G>A, c.1517G>A, r.1517g>a, p.Cys506Tyr
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 8)
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [4]
RefCrossRef     PUBMED; 8162018
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
RefNumber       [5]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [6]
RefCrossRef     PUBMED; 10859027
RefAuthors      Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K.,
RefAuthors      Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras,
RefAuthors      P., Finocchi, A., Livadiotti, S., Rossi, P.
RefTitle        X-chromosome inactivation and mutation pattern in the 
RefTitle        Bruton's tyrosine kinase gene in patients with X-linked 
RefTitle        agammaglobulinemia. Italian XLA Collaborative Group
RefLoc          Mol. Med. 6:104-113(2000)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_41
DB CrossRef     SWISS-PROT; Q06187:506_506
DB CrossRef     BTKbase; A0184
DB CrossRef     BTKbase; A0378
DB CrossRef     BTKbase; A0026
DB CrossRef     ESID; CH 0046 M71 G1
DB CrossRef     BTKbase; A0241
DB CrossRef     BTKbase; A0700
DB CrossRef     ESID; IT 0437 M94 G1
DB CrossRef     BTKbase; A0240
DB CrossRef     BTKbase; A0701
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65374
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1649
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> Y
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 7; Patients: 7; Homozygotes: 0
Protein struct  Affects stabilizing interactions
Protein struct   ref [2]
Protein struct  Disturbs stabilizing interactions
Protein struct   ref [2]
Protein struct  Affects stabilizing interactions
Protein struct   ref [2]
Protein struct  Affects stabilizing interactions
Protein struct   ref [2]
Protein struct  Affects stabilizing interactions
Protein struct   ref [2]
//
ID              BTK_Y425X(1); standard; MUTATION; TK
Accession       K00156
Systematic name g.64617C>A, c.1275C>A, r.1275c>a, p.Tyr425X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 8162018
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 11809909
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. 
RefAuthors      M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van 
RefAuthors      Dongen, J. J.
RefTitle        Composition of precursor B-cell compartment in bone marrow 
RefTitle        from patients with X-linked agammaglobulinemia compared 
RefTitle        with healthy children.
RefLoc          Pediatr. Res. 51:159-168 (2002)
RefNumber       [4]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
RefNumber       [4]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [5]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     OMIM; 300300.0033
DB CrossRef     BTKbase; A0025
DB CrossRef     BTKbase; A0821
DB CrossRef     BTKbase; A0309
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64617
Feature           /change: c -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1407
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 425
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_C527S(1); standard; MUTATION; TK
Accession       K00157
Systematic name g.66793T>A, c.1579T>A, r.1579u>a, p.Cys527Ser
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0583
DB CrossRef     BTKbase; A0583
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66793
Feature           /change: t -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1711
Feature           /codon: tgt -> agt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#C527X528(1); standard; MUTATION; TK
Accession       K00158
Systematic name g.66795delT, c.1581delT, r.1581delu, p.Leu528fsX1
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 8090769
RefAuthors      Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors      R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors      R. A., Litman, G. W.
RefTitle        Genomic organization and structure of Bruton 
RefTitle        agammaglobulinemia tyrosine kinase: Localization of 
RefTitle        mutations associated with varied clinical presentations and
RefTitle        cource in X chromosome-linked agammaglobulinemia
RefLoc          Proc. Natl. Acad. Sci. 91:9062-9066(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
DB CrossRef     BTKbase; A0200
DB CrossRef     BTKbase; A0037
DB CrossRef     OMIM; 300300.0039
DB CrossRef     BTKbase; A0094
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66795
Feature           /change: -t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1713
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> CWX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_Y476D(1); standard; MUTATION; TK
Accession       K00159
Systematic name g.65283T>G, c.1426T>G, r.1426u>g, p.Tyr476Asp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefLoc          Dr. Igor Resnick, Department of Clinical Immunology,
RefLoc          Research Institute for Paediatric Hematology, 
RefLoc          Central RepublicanPaediatric Hospital, 
RefLoc          Leninsky Pr. 117, Moscow 117513, Russia.
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7627183
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(1995)
RefNumber       [5]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_36
DB CrossRef     SWISS-PROT; Q06187:476_476
DB CrossRef     BTKbase; A0271
DB CrossRef     BTKbase; A0167
DB CrossRef     BTKbase; A0829
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65283
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1558
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 476
Feature           /change: Y -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
Protein struct  Affects ATP binding; ref [2]
Protein struct  Affects ATP binding; ref [2]
Protein struct  Affects ATP binding; ref [2]
//
ID              BTK_K466X(1); standard; MUTATION; TK
Accession       K00160
Systematic name g.65253A>T, c.1396A>T, r.1396a>u, p.Lys466X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0736
DB CrossRef     BTKbase; A0737
DB CrossRef     BTKbase; A0735
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65253
Feature           /change: a -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1528
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 466
Feature           /change: K -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              BTK_#L452X454(1); standard; MUTATION; TK
Accession       K00161
Systematic name g.65213delT, c.1356delT, r.1356delu, p.Ser453fsX30
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef     BTKbase; A0133
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 65213
Feature           /change: -t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1488
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 452
Feature           /change: L -> LPMRSWCSCM ASAPSSAPSS SSLSTWPMAA SX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_W421X(1); standard; MUTATION; TK
Accession       K00162
Systematic name g.64605G>A, c.1263G>A, r.1263g>a, p.Trp421X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (04-Aug-1999) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [3]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0603
DB CrossRef     BTKbase; A0336
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64605
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1395
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 421
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Truncated protein; ref [2]
//
ID              BTK_G613D(1); standard; MUTATION; TK
Accession       K00163
Systematic name g.68212G>A, c.1838G>A, r.1838g>a, p.Gly613Asp
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 8)
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester; Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH;
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
RefNumber       [2]
RefCrossRef     PUBMED; 12204007
RefCrossRef     Human Mutation, Mutation in Brief #531 (2002) Online
RefAuthors      Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, 
RefAuthors      J., Vilela, M. M., Miyawaki, T.
RefTitle        Identification of mutations of bruton's tyrosine kinase 
RefTitle        gene (BTK) in brazilian patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          Hum. Mutat. 20:235-236 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_65
DB CrossRef     SWISS-PROT; Q06187:613_613
DB CrossRef     BTKbase; A0530
DB CrossRef     BTKbase; A0845
DB CrossRef     BTKbase; A0531
DB CrossRef     BTKbase; A0844
DB CrossRef     OMIM; 300300.0047
DB CrossRef     BTKbase; A0065
DB CrossRef     BTKbase; A0064
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68212
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1970
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 613
Feature           /change: G -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       Mild XLA
Occurrence      Families: 4; Patients: 8; Homozygotes: 0
Protein struct  Domain-domain interactions; ref [2]
Protein struct  Domain-domain interactions; ref [2]
//
ID              BTK_H454R(1); standard; MUTATION; TK
Accession       K00164
Systematic name g.65218A>G, c.1361A>G, r.1361a>g, p.His454Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0742
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65218
Feature           /change: a -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1493
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 454
Feature           /change: H -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@Y511X(1); standard; MUTATION; TK
Accession       K00168
Systematic name g.65388_65389insG, c.1531_1532insG, r.1531_1532insg,
Systematic name p.Tyr511X
Description     An insertion mutation in the exon 15 leading to a premature
Description     stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [3]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0216
DB CrossRef     BTKbase; A0214
DB CrossRef     BTKbase; A0215
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 65389
Feature           /change: +g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1664
Feature           /codon: tac -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 511
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_#Y571X586(1); standard; MUTATION; TK
Accession       K00169
Systematic name g.67566delT, c.1711delT, r.1711delu, p.Tyr571fsX15
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0589
DB CrossRef     BTKbase; A0589
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67566
Feature           /change: -t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1843
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 571
Feature           /change: Y -> IASSAANLTF GLLGFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_E567K(1); standard; MUTATION; TK
Accession       K00170
Systematic name g.67554G>A, c.1699G>A, r.1699g>a, p.Glu567Lys
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_54
DB CrossRef     SWISS-PROT; Q06187:567_567
DB CrossRef     BTKbase; A0135
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67554
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1831
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 567
Feature           /change: E -> K
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Distroys stabilizing ion bond with R641; ref [2]
Protein struct  Distroys stabilizing ion bond with R641; ref [2]
//
ID              BTK_L616F(1); standard; MUTATION; TK
Accession       K00171
Systematic name g.68220C>T, c.1846C>T, r.1846c>u, p.Leu616Phe
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0594
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68220
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1978
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 616
Feature           /change: L -> F
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R562W(1); standard; MUTATION; TK
Accession       K00172
Systematic name g.67539C>T, c.1684C>T, r.1684c>u, p.Arg562Trp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 23)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [5]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [7]
RefCrossRef     PUBMED; 11809909
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. 
RefAuthors      M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van 
RefAuthors      Dongen, J. J.
RefTitle        Composition of precursor B-cell compartment in bone marrow 
RefTitle        from patients with X-linked agammaglobulinemia compared 
RefTitle        with healthy children.
RefLoc          Pediatr. Res. 51:159-168 (2002)
RefNumber       [8]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
RefNumber       [8]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [9]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
RefNumber       [10]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [11]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
RefNumber       [12]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_53
DB CrossRef     SWISS-PROT; Q06187:562_562
DB CrossRef     BTKbase; A0341
DB CrossRef     BTKbase; A0609
DB CrossRef     OMIM; 300300.0042
DB CrossRef     BTKbase; A0075
DB CrossRef     BTKbase; A0817
DB CrossRef     BTKbase; A0813
DB CrossRef     BTKbase; A0121
DB CrossRef     BTKbase; A0587
DB CrossRef     BTKbase; A0898
DB CrossRef     BTKbase; A0586
DB CrossRef     BTKbase; A0096
DB CrossRef     BTKbase; A0835
DB CrossRef     BTKbase; A1001
DB CrossRef     BTKbase; A1157
DB CrossRef     SWISSCHANGE; BTK_HUMAN_53
DB CrossRef     SWISS-PROT; Q06187:562_562
DB CrossRef     BTKbase; A0341
DB CrossRef     BTKbase; A0609
DB CrossRef     BTKbase; A1156
DB CrossRef     BTKbase; A0817
DB CrossRef     BTKbase; A0813
DB CrossRef     BTKbase; A0121
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67539
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1816
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562
Feature           /change: R -> W
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 22; Patients: 22; Homozygotes: 0
Protein struct  substrate binding, and the positioning of W563
Protein struct   ref [2] Destabilization, orientation of W563
Protein struct   ref [3]
Protein struct  Destabilization, orientation of W563
Protein struct   ref [2]
Protein struct  Destabilization, orientation of W563
Protein struct   ref [2]
Protein struct  Destabilization, orientation of W563
Protein struct   ref [2]
Protein struct  substrate binding, and the positioning of W563; ref [2]
Protein struct  Destabilization, orientation of W563; ref [3]
Protein struct  Destabilization, orientation of W563; ref [2]
//
ID              BTK_#A523-114(1); standard; MUTATION; TK
Accession       K00173
Systematic name g.66781delG, c.1567delG, r.1567delg, p.Ala523fsX6
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
RefNumber       [3]
RefCrossRef     PUBMED; 10887125
RefAuthors      Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., 
RefAuthors      Agematsu, K., Murakami, G., Sakazume, S., Sako, M., 
RefAuthors      Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors      K., Kishimoto, T., Miyawaki, T.
RefTitle        Genetic defect in human X-linked agammaglobulinemia 
RefTitle        impedes a maturational evolution of pro-B cells into a 
RefTitle        later stage of pre-B cells in the B-cell differentiation 
RefTitle        pathway
RefLoc          Blood 96:610-617(2000)
DB CrossRef     BTKbase; A0317
DB CrossRef     BTKbase; A0317
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66781
Feature           /change: -g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1699
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 523
Feature           /change: A -> QLETVWX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_@M630X657(1); standard; MUTATION; TK
Accession       K00174
Systematic name g.68261_68262insT, c.1887_1888insT, r.1887_1888insu,
Systematic name p.Met630fsX6
Description     A frame shift insertion mutation in the exon 18 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     BTKbase; A0066
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 68262
Feature           /change: +t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2020
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> YVQLLAX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_G462V(1); standard; MUTATION; TK
Accession       K00175
Systematic name g.65242G>T, c.1385G>T, r.1385g>u, p.Gly462Val
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0432
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65242
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1517
Feature           /codon: ggc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 462
Feature           /change: G -> V
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_A607D(1); standard; MUTATION; TK
Accession       K00176
Systematic name g.68194C>A, c.1820C>A, r.1820c>a, p.Ala607Asp
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 8162056
RefAuthors      Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, 
RefAuthors      A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle        Mutation detection in the X-linked agammaglobulinemia 
RefTitle        gene, BTK, using single strand conformation polymorphism 
RefTitle        analysis
RefLoc          Hum. Molec. Genet. 3:79-83(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     OMIM; 300300.0046
DB CrossRef     SWISSCHANGE; BTK_HUMAN_64
DB CrossRef     SWISS-PROT; Q06187:607_607
DB CrossRef     BTKbase; A0017
DB CrossRef     BTKbase; A0343
DB CrossRef     BTKbase; A0344
DB CrossRef     BTKbase; A0016
DB CrossRef     BTKbase; A0018
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68194
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1952
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 607
Feature           /change: A -> D
Feature           /domain: TK
Diagnosis       Moderate XLA
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 6; Homozygotes: 0
Protein struct  Domain-domain interactions; ref [2]
Protein struct  Domain-domain interactions; ref [3]
Protein struct  Domain-domain interactions; ref [3]
Protein struct  Domain-domain interactions; ref [2]
Protein struct  Domain-domain interactions; ref [2]
Protein struct  Domain-domain interactions; ref [3]
//
ID              BTK_L512P(1); standard; MUTATION; TK
Accession       K00177
Systematic name g.65392T>C, c.1535T>C, r.1535u>c, p.Leu512Pro
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0738
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65392
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1667
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 512
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R525X(1); standard; MUTATION; TK
Accession       K00178
Systematic name g.66787C>T, c.1573C>T, r.1573c>u, p.Arg525X
Description     A point mutation in the exon 16 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 6)
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef     BTKbase; A0402
DB CrossRef     BTKbase; A0338
DB CrossRef     BTKbase; A0523
DB CrossRef     BTKbase; A0118
DB CrossRef     BTKbase; A0523
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66787
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1705
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
Protein struct  Truncated protein
Protein struct   ref [2]
Protein struct  Truncated protein
Protein struct   ref [2]
Protein struct  Premature stop
//
ID              BTK_#A582X586(1); standard; MUTATION; TK
Accession       K00179
Systematic name g.67600delC, c.1745delC, r.1745delc, p.Ala582fsX4
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (16-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester; Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH;
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef     BTKbase; A0526
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67600
Feature           /change: -c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1877
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 582
Feature           /change: A -> VLGFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G391G(1); standard; MUTATION; TK
Accession       K00180
Systematic name g.63962A>G, c.1173A>G, r.1173a>g, p.Gly391Gly
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0495
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63962
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1305
Feature           /codon: gga -> ggg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 391
Feature           /change: G -> G
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_C506R(1); standard; MUTATION; TK
Accession       K00181
Systematic name g.65373T>C, c.1516T>C, r.1516u>c, p.Cys506Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (15-May-1996) to the BTKbase
RefLoc          Dr. Jerrold H. Schwaber; Hahnemann University, Broad & Wine
RefLoc          Philadelphia, PA 19102, USA; 
RefLoc          e-mail schwaberj@hal.hahnemann.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     Human Mutation, Mutation in Brief #377 (2000) Online
RefAuthors      Tao, L., Boyd, M., Gonye, G., Malone, M., Schwaber, J.
RefTitle        BTK mutations in patient with X-linked agammaglobulinemia:
RefTitle        Lack of correlation between presence of peripheral B 
RefTitle        lymphocytes and specific mutations
RefLoc          Hum. Mut. 16:528-529 (2000)
RefNumber       [4]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_40
DB CrossRef     SWISS-PROT; Q06187:506_506
DB CrossRef     BTKbase; A0289
DB CrossRef     OMIM; 300300.0035
DB CrossRef     BTKbase; A0071
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65373
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1648
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> R
Feature           /domain: TK
Diagnosis       Mild XLA
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Affects stabilizing interactions, charge effect; ref [2]
Protein struct  Affects stabilizing interactions, charge effect; ref [2]
//
//
ID              BTK_R641H(1); standard; MUTATION; TK
Accession       K00183
Systematic name g.71534G>A, c.1922G>A, r.1922g>a, p.Arg641His
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 14)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [5]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [5]
RefCrossRef     PUBMED; 10844531
RefAuthors      Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., 
RefAuthors      Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., 
RefAuthors      Komiyama, A., Miyawaki, T.
RefTitle        Detection of Bruton's tyrosine kinase mutations in 
RefTitle        hypogammaglobulinaemic males registered as common variable
RefTitle        immunodeficiency (CVID) in the Japanese Immunodeficiency 
RefTitle        Registry
RefLoc          Clin. Exp. Immunol. 120:512-517(2000)
RefNumber       [6]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A0690
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
DB CrossRef     BTKbase; A0454
DB CrossRef     BTKbase; A0139
DB CrossRef     BTKbase; A0403
DB CrossRef     BTKbase; A0713
DB CrossRef     BTKbase; A0455
DB CrossRef     BTKbase; A0140
DB CrossRef     BTKbase; A0141
DB CrossRef     BTKbase; A1184
DB CrossRef     BTKbase; A0690
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       Mild XLA
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 13; Patients: 13; Homozygotes: 0
Protein struct  Destroys stabilizing ion bond with E567
Protein struct   ref [2]
Protein struct  C terminus
Protein struct   ref [2]
Protein struct  Destroys stabilizing ion bond with E567
Protein struct   ref [2]
Protein struct  Destroys stabilizing ion bond with E567
Protein struct   ref [2]
//
ID              BTK_#T628-4(1); standard; MUTATION; TK
Accession       K00184
Systematic name g.68258C>T, c.1884C>T, r.1884c>u, p.Thr628Thr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0514
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68258
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2016
Feature           /codon: acc -> act; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 628
Feature           /change: T -> T
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Y631X(2); standard; MUTATION; TK
Accession       K00185
Systematic name g.68266delA, c.1892delA, r.1892dela, p.Tyr631fsX17
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0440
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68266
Feature           /change: -a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2024
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 631
Feature           /change: Y -> SVVGMRKQMS VPLSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_W634S(1); standard; MUTATION; TK
Accession       K00186
Systematic name g.68275G>C, c.1901G>C, r.1901g>c, p.Trp634Ser
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0909
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68275
Feature           /change: g -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2033
Feature           /codon: tgg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 634
Feature           /change: W -> S
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_E589G(1); standard; MUTATION; TK
Accession       K00187
Systematic name g.68140A>G, c.1766A>G, r.1766a>g, p.Glu589Gly
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0044
DB CrossRef     SWISSCHANGE; BTK_HUMAN_58
DB CrossRef     SWISS-PROT; Q06187:589_589
DB CrossRef     BTKbase; A0061
DB CrossRef     BTKbase; A0063
DB CrossRef     BTKbase; A0062
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68140
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1898
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 589
Feature           /change: E -> G
Feature           /domain: TK
Diagnosis       Moderate XLA
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Protein struct  Affects substrate binding; ref [1]
Protein struct  Affects substrate binding; ref [1]
Protein struct  Affects substrate binding; ref [1]
//
ID              BTK_L402P(1); standard; MUTATION; TK
Accession       K00188
Systematic name g.64547T>C, c.1205T>C, r.1205u>c, p.Leu402Pro
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (08-Jan-2002) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Madrid 28046, Spain; Tel 91 7277095; Fax 91 7277095;
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
DB CrossRef     BTKbase; A0809
DB CrossRef     BTKbase; A0808
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64547
Feature           /change: t -> c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1337
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 402
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              BTK_F583S(1); standard; MUTATION; TK
Accession       K00189
Systematic name g.67603T>C, c.1748T>C, r.1748u>c, p.Phe583Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefLoc          Submitted (20-Aug-1997) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0415
DB CrossRef     BTKbase; A0527
DB CrossRef     BTKbase; A0415
DB CrossRef     BTKbase; A0527
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67603
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1880
Feature           /codon: ttt -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 583
Feature           /change: F -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              BTK_L452P(1); standard; MUTATION; TK
Accession       K00190
Systematic name g.65212T>C, c.1355T>C, r.1355u>c, p.Leu452Pro
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A0689
DB CrossRef     BTKbase; A1133
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65212
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1487
Feature           /codon: ctt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 452
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BTK_Y598C(1); standard; MUTATION; TK
Accession       K00192
Systematic name g.68167A>G, c.1793A>G, r.1793a>g, p.Tyr598Cys
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; GB 0577 M63 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_63
DB CrossRef     SWISS-PROT; Q06187:598_598
DB CrossRef     BTKbase; A0244
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68167
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1925
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 598
Feature           /change: Y -> C
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@T410X439(1); standard; MUTATION; TK
Accession       K00193
Systematic name g.64569dupG, c.1227dupG, r.1227dupg, p.Thr410fsX29
Description     A frame shift duplication mutation in the exon 14 leading
Description     to a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9753052
RefAuthors      Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., 
RefAuthors      Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., 
RefAuthors      Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. 
RefTitle        Absence of Bruton's tyrosine kinase (Btk) mutations in 
RefTitle        patients with acute myeloid leukaemia
RefLoc          Br. J. Haematol. 102:1241-1248 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     BTKbase; A0677
DB CrossRef     BTKbase; A0687
DB CrossRef     ESID; EL 0045 M81 G1
DB CrossRef     BTKbase; A0237
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 64570
Feature           /change: +g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1360
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 410
Feature           /change: T -> DWTIWGSEVW EMERPVRRGH QDDQRRLHVX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_C527F(1); standard; MUTATION; TK
Accession       K00195
Systematic name g.66794G>T, c.1580G>T, r.1580g>u, p.Cys527Phe
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0744
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66794
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1712
Feature           /codon: tgt -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> F
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_E441X(1); standard; MUTATION; TK
Accession       K00196
Systematic name g.64663G>T, c.1321G>T, r.1321g>u, p.Glu441X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [3]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0213
DB CrossRef     BTKbase; A0310
DB CrossRef     BTKbase; A0213
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64663
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1453
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 441
Feature           /change: E -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_#N530X555(1); standard; MUTATION; TK
Accession       K00198
Systematic name g.66802delA, c.1588delA, r.1588dela, p.Asn530fsX25
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef     OMIM; 300300.0038
DB CrossRef     BTKbase; A0074
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66802
Feature           /change: -a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1720
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 530
Feature           /change: N -> TIKELLKYLI SACPGMSWMM NTQAQX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_W581X(1); standard; MUTATION; TK
Accession       K00199
Systematic name g.67598G>A, c.1743G>A, r.1743g>a, p.Trp581X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (06-Jun-2001) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
DB CrossRef     BTKbase; A0774
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67598
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1875
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 581
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_C506F(1); standard; MUTATION; TK
Accession       K00200
Systematic name g.65374G>T, c.1517G>T, r.1517g>u, p.Cys506Phe
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0579
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65374
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1649
Feature           /codon: tgt -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> F
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_P565T(1); standard; MUTATION; TK
Accession       K00202
Systematic name g.67548C>A, c.1693C>A, r.1693c>a, p.Pro565Thr
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12768435
RefAuthors      Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. 
RefAuthors      H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, 
RefAuthors      S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
RefTitle        Identification of mutations in the bruton's tyrosine 
RefTitle        kinase gene, including a novel genomic rearrangements 
RefTitle        resulting in large deletion, in korean X-linked 
RefTitle        agammaglobulinemia patients.
RefLoc          J Hum Genet 48:322-326 (2003)
DB CrossRef     BTKbase; A0911
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67548
Feature           /change: c -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1825
Feature           /codon: cca -> aca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 565
Feature           /change: P -> T
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_K430E(1); standard; MUTATION; TK
Accession       K00204
Systematic name g.64630A>G, c.1288A>G, r.1288a>g, p.Lys430Glu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Oct-2003 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8380905
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
RefNumber       [4]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [5]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     OMIM; 300300.0002
DB CrossRef     SWISSCHANGE; BTK_HUMAN_35
DB CrossRef     SWISS-PROT; Q06187:430_430
DB CrossRef     BTKbase; A0003
DB CrossRef     BTKbase; A0688
DB CrossRef     ESID; EL 0240 M57 G1
DB CrossRef     BTKbase; A0238
DB CrossRef     BTKbase; A0734
DB CrossRef     Swiss-Prot variant; VAR_006242
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64630
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1420
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> E
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
Protein struct  Disturbs ATP binding
Protein struct   ref [2]
Protein struct  Disturbs ATP binding
Protein struct   ref [2]
//
ID              BTK_W588X(1); standard; MUTATION; TK
Accession       K00205
Systematic name g.68137G>A, c.1763G>A, r.1763g>a, p.Trp588X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
RefNumber       [2]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0506
DB CrossRef     BTKbase; A0591
DB CrossRef     BTKbase; A0505
DB CrossRef     BTKbase; A0901
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68137
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1895
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 588
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              BTK_M509I(1); standard; MUTATION; TK
Accession       K00206
Systematic name g.65384G>A, c.1527G>A, r.1527g>a, p.Met509Ile
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E..
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 11809909
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. 
RefAuthors      M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van 
RefAuthors      Dongen, J. J.
RefTitle        Composition of precursor B-cell compartment in bone marrow 
RefTitle        from patients with X-linked agammaglobulinemia compared 
RefTitle        with healthy children.
RefLoc          Pediatr. Res. 51:159-168 (2002)
RefNumber       [4]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
RefNumber       [5]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
DB CrossRef     BTKbase; A0467
DB CrossRef     BTKbase; A0818
DB CrossRef     SWISSCHANGE; BTK_HUMAN_42
DB CrossRef     SWISS-PROT; Q06187:509_509
DB CrossRef     BTKbase; A0257
DB CrossRef     BTKbase; A0467
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65384
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1659
Feature           /codon: atg -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509
Feature           /change: M -> I
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
Protein struct  Affects stabilation of catalytic loop
Protein struct   ref [2]
Protein struct  Affects stabilation of catalytic loop
Protein struct   ref [2]
Protein struct  Affects stabilation of catalytic loop; ref [2]
//
ID              BTK_#Y571X577(1); standard; MUTATION; TK
Accession       K00207
Systematic name g.67566delT, c.1711delT, r.1711delu, p.Tyr571fsX15
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (03-Oct-2001) to BTKbase.
RefLoc          Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama 
RefLoc          Medical and Pharmaceutical University; 
RefLoc          Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp
RefNumber       [2]
RefCrossRef     Human Mutation, Mutation in Brief #446 (2001) Online
RefAuthors      Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., 
RefAuthors      Futatani, T., Tsukada, S., Miyawaki, T.
RefTitle        Bruton tyrosine kinase gene mutations in Turkish patients 
RefTitle        with presumed X-linked agammaglobulinemia
RefLoc          Hum. Mut. 18:356 (2001)
DB CrossRef     BTKbase; A0762
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67566
Feature           /change: -t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1843
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 571
Feature           /change: Y -> IASSAANLTF GLLGFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G594R(1); standard; MUTATION; TK
Accession       K00210
Systematic name g.68154G>C, c.1780G>C, r.1780g>c, p.Gly594Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10859027
RefAuthors      Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K.,
RefAuthors      Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras,
RefAuthors      P., Finocchi, A., Livadiotti, S., Rossi, P.
RefTitle        X-chromosome inactivation and mutation pattern in the 
RefTitle        Bruton's tyrosine kinase gene in patients with X-linked 
RefTitle        agammaglobulinemia. Italian XLA Collaborative Group
RefLoc          Mol. Med. 6:104-113(2000)
RefNumber       [2]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A0705
DB CrossRef     BTKbase; A1007
DB CrossRef     BTKbase; A0705
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68154
Feature           /change: g -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1912
Feature           /codon: ggg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Classical XLA
Diagnosis       
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
//
ID              BTK_@K637X638(1); standard; MUTATION; TK
Accession       K00212
Systematic name g.71520_71521insT, c.1908_1909insT, r.1908_1909insu,
Systematic name p.Lys637X
Description     An insertion mutation in the exon 19 leading to a premature
Description     stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8162018
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
DB CrossRef     OMIM; 300300.0050
DB CrossRef     BTKbase; A0027
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 71521
Feature           /change: +t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2041
Feature           /codon: aaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 637
Feature           /change: K -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_F644L(1); standard; MUTATION; TK
Accession       K00213
Systematic name g.71544C>A, c.1932C>A, r.1932c>a, p.Phe644Leu
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0441
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71544
Feature           /change: c -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2064
Feature           /codon: ttc -> tta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 644
Feature           /change: F -> L
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_R520X(1); standard; MUTATION; TK
Accession       K00214
Systematic name g.65415C>T, c.1558C>T, r.1558c>u, p.Arg520X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 17)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [4]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
RefNumber       [5]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [6]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [7]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [8]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [9]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef     BTKbase; A0337
DB CrossRef     OMIM; 300300.0036
DB CrossRef     BTKbase; A0056
DB CrossRef     BTKbase; A0362
DB CrossRef     BTKbase; A0057
DB CrossRef     BTKbase; A0860
DB CrossRef     BTKbase; A0217
DB CrossRef     BTKbase; A0383
DB CrossRef     BTKbase; A0091
DB CrossRef     ESID; CH 0533 M74 G1
DB CrossRef     BTKbase; A0242
DB CrossRef     BTKbase; A0072
DB CrossRef     BTKbase; A0434
DB CrossRef     BTKbase; A0414
DB CrossRef     BTKbase; A0361
DB CrossRef     BTKbase; A0581
DB CrossRef     OMIM; 300300.0036
DB CrossRef     BTKbase; A0056
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       Moderate XLA
Diagnosis       Mild XLA
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 15; Patients: 16; Homozygotes: 0
Protein struct  Truncated protein
Protein struct   ref [2]
Protein struct  Premature stop
//
ID              BTK_F559S(1); standard; MUTATION; TK
Accession       K00215
Systematic name g.67531T>C, c.1676T>C, r.1676u>c, p.Phe559Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0340
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67531
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1808
Feature           /codon: ttt -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 559
Feature           /change: F -> S
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Disrupts substrate specific SH1 domain; ref [2]
//
ID              BTK_P619S(1); standard; MUTATION; TK
Accession       K00216
Systematic name g.68229C>T, c.1855C>T, r.1855c>u, p.Pro619Ser
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
DB CrossRef     ESID; GB 1234 M70 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_66
DB CrossRef     SWISS-PROT; Q06187:619_619
DB CrossRef     BTKbase; A0246
DB CrossRef     BTKbase; A0837
DB CrossRef     ESID; SE 0756 M92 G1
DB CrossRef     BTKbase; A0245
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68229
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1987
Feature           /codon: cct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> S
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Affects turn formation
Protein struct   ref [2]
Protein struct  Affects turn formation
Protein struct   ref [2]
//
ID              BTK_R544S(1); standard; MUTATION; TK
Accession       K00217
Systematic name g.67487G>T, c.1632G>T, r.1632g>u, p.Arg544Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (07-Mar-2001) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 18241233
RefAuthors      Perez de Diego, R., Lopez-Granados, E., Rivera, J., 
RefAuthors      Ferreira, A., Fontan, G., Bravo, J., Garcia Rodriguez, M. 
RefAuthors      C., Bolland, S.
RefTitle        Naturally occurring bruton's tyrosine kinase mutations 
RefTitle        have no dominant negative effect in an X-linked 
RefTitle        agammaglobulinaemia cellular model.
RefLoc          Clin Exp Immunol:33-38 (2008)
DB CrossRef     BTKbase; A0739
DB CrossRef     BTKbase; A1242
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67487
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1764
Feature           /codon: agg -> agt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> S
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BTK_N526K(1); standard; MUTATION; TK
Accession       K00218
Systematic name g.66792C>G, c.1578C>G, r.1578c>g, p.Asn526Lys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_49
DB CrossRef     SWISS-PROT; Q06187:526_526
DB CrossRef     BTKbase; A0120
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66792
Feature           /change: c -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1710
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 526
Feature           /change: N -> K
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Disturbs Mg and D521 binding
Protein struct   ref [2]
//
//
ID              BTK_L647R(1); standard; MUTATION; TK
Accession       K00221
Systematic name g.71552T>G, c.1940T>G, r.1940u>g, p.Leu647Arg
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_74
DB CrossRef     SWISS-PROT; Q06187:647_647
DB CrossRef     BTKbase; A0202
DB CrossRef     BTKbase; A0460
DB CrossRef     BTKbase; A0461
DB CrossRef     SWISSCHANGE; BTK_HUMAN_74
DB CrossRef     SWISS-PROT; Q06187:647_647
DB CrossRef     BTKbase; A0460
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71552
Feature           /change: t -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2072
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 647
Feature           /change: L -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia    
Diagnosis       
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
Protein struct  Affects conformation of the C-terminus
Protein struct   ref [2]
Protein struct  Affects conformation of the C-terminus
Protein struct   ref [2]
Protein struct  Affects conformation of the C-terminus
Protein struct   ref [2]
Protein struct  Affects conformation of the C-terminus; ref [2]
//
ID              BTK_Y392X(1); standard; MUTATION; TK
Accession       K00222
Systematic name g.63965C>A, c.1176C>A, r.1176c>a, p.Tyr392X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
DB CrossRef     BTKbase; A0686
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63965
Feature           /change: c -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1308
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 392
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#P642X654(1); standard; MUTATION; TK
Accession       K00223
Systematic name g.71537delC, c.1925delC, r.1925delc, p.Thr643fsX5
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (10-Oct-1998) to BTKbase.
RefLoc          Dr. Igor Resnick; Department of Clinical Immunology,
RefLoc          Research Institute for Paediatric Hematology, 
RefLoc          Central Republican Paediatric Hospital, 
RefLoc          Leninsky Pr. 117, Moscow 117513, Russia
DB CrossRef     BTKbase; A0513
DB CrossRef     BTKbase; A0513
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 71537
Feature           /change: -c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2057
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 642
Feature           /change: P -> PLSKFFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_S554X(1); standard; MUTATION; TK
Accession       K00224
Systematic name g.67516C>G, c.1661C>G, r.1661c>g, p.Ser554X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0339
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67516
Feature           /change: c -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1793
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 554
Feature           /change: S -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Truncated protein; ref [2]
Protein struct  Truncated protein; ref [2]
//
ID              BTK_M630K(1); standard; MUTATION; TK
Accession       K00225
Systematic name g.68263T>A, c.1889T>A, r.1889u>a, p.Met630Lys
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 7880320
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
DB CrossRef     OMIM; 300300.0048
DB CrossRef     SWISSCHANGE; BTK_HUMAN_68
DB CrossRef     SWISS-PROT; Q06187:630_630
DB CrossRef     BTKbase; A0076
DB CrossRef     BTKbase; A0099
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68263
Feature           /change: t -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2021
Feature           /codon: atg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> K
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Destabilization of hydrophobic core; ref [2]
Protein struct  Destabilization of hydrophobic core; ref [2]
Protein struct  Destabilization of hydrophobic core; ref [2]
//
//
ID              BTK_#Q612X648(1); standard; MUTATION; TK
Accession       K00227
Systematic name g.68208delC, c.1834delC, r.1834delc, p.Gln612fsX36
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0644
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68208
Feature           /change: -c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1966
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 612
Feature           /change: Q -> KAYVSTGLIW LQRRYIPSCT VVGMRKQMSV PLSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#S632X648(1); standard; MUTATION; TK
Accession       K00228
Systematic name g.68268delA, c.1894delA, r.1894dela, p.Ser632fsX16
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef     BTKbase; A0138
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68268
Feature           /change: -a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2026
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 632
Feature           /change: S -> VVGMRKQMSV PLSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_#K430X438(1); standard; MUTATION; TK
Accession       K00229
Systematic name g.64630delA, c.1288delA, r.1288dela, p.Lys430fsX1
Description     A frame shift deletion mutation in the exon 14 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9753052
RefAuthors      Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., 
RefAuthors      Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., 
RefAuthors      Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. 
RefTitle        Absence of Bruton's tyrosine kinase (Btk) mutations in 
RefTitle        patients with acute myeloid leukaemia
RefLoc          Br. J. Haematol. 102:1241-1248 (1998)
DB CrossRef     BTKbase; A0678
DB CrossRef     BTKbase; A0678
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 64630
Feature           /change: -a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1420
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> RX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
//
ID              BTK_R562P(1); standard; MUTATION; TK
Accession       K00231
Systematic name g.67540G>C, c.1685G>C, r.1685g>c, p.Arg562Pro
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10678660
RefAuthors      Curtis, S. K., Hebert, M. D., Saha, B. K.
RefTitle        Twin carriers of X-linked agammaglobulinemia (XLA) due to 
RefTitle        germline mutation in the Btk gene
RefLoc          Am J. Med. Genet. 90:229-32 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     BTKbase; A0646
DB CrossRef     BTKbase; A0647
DB CrossRef     SWISSCHANGE; BTK_HUMAN_52
DB CrossRef     SWISS-PROT; Q06187:562_562
DB CrossRef     BTKbase; A0103
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67540
Feature           /change: g -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1817
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562
Feature           /change: R -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
Protein struct  Stabilization and orientation of W563
Protein struct   ref [1]
//
ID              BTK_M587T(1); standard; MUTATION; TK
Accession       K00232
Systematic name g.68134T>C, c.1760T>C, r.1760u>c, p.Met587Thr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (24-Dec-2001) to BTKbase.
RefLoc          J.G. Noordzij; e-mail noordzij@immu.fgg.eur.nl
RefNumber       [2]
RefAuthors      Noordzij, J.G.
RefTitle        Genotypic and phenotypic aspects of primary
RefTitle        immunodeficiency diseases of the lymphoid system
RefLoc          Thesis (2002), Erasmus University Rotterdam,
RefLoc          The Netherlands
RefNumber       [3]
RefCrossRef     PUBMED; 11809909
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. 
RefAuthors      M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van 
RefAuthors      Dongen, J. J.
RefTitle        Composition of precursor B-cell compartment in bone marrow 
RefTitle        from patients with X-linked agammaglobulinemia compared 
RefTitle        with healthy children.
RefLoc          Pediatr. Res. 51:159-168 (2002)
RefNumber       [2]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
DB CrossRef     BTKbase; A0822
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68134
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1892
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 587
Feature           /change: M -> T
Feature           /domain: TK
Diagnosis       Moderate XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#C527X535(1); standard; MUTATION; TK
Accession       K00233
Systematic name g.66793delT, c.1579delT, r.1579delu, p.Cys527fsX2
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10859027
RefAuthors      Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K.,
RefAuthors      Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras,
RefAuthors      P., Finocchi, A., Livadiotti, S., Rossi, P.
RefTitle        X-chromosome inactivation and mutation pattern in the 
RefTitle        Bruton's tyrosine kinase gene in patients with X-linked 
RefTitle        agammaglobulinemia. Italian XLA Collaborative Group
RefLoc          Mol. Med. 6:104-113(2000)
DB CrossRef     BTKbase; A0704
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66793
Feature           /change: -t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1711
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> VWX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_A622P(1); standard; MUTATION; TK
Accession       K00234
Systematic name g.68238G>C, c.1864G>C, r.1864g>c, p.Ala622Pro
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E.
RefTitle        Neutropenia in X-linked agammaglobulinemia 
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0469
DB CrossRef     BTKbase; A0596
DB CrossRef     BTKbase; A0469
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68238
Feature           /change: g -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1996
Feature           /codon: gct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 622
Feature           /change: A -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BTK_@E605+2(1); standard; MUTATION; TK
Accession       K00235
Systematic name g.68186_68187insG, c.1812_1813insG, r.1812_1813insg,
Systematic name p.Glu605fsX3
Description     A frame shift insertion mutation in the exon 18 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0342
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 68187
Feature           /change: +g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1945
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 605
Feature           /change: E -> GDCX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Disrupts the alpha helix of TK; ref [2]
//
ID              BTK_@Y392X(1); standard; MUTATION; TK
Accession       K00236
Systematic name g.63964dupA, c.1175dupA, r.1175dupa, p.Tyr392X
Description     A duplication mutation in the exon 13 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11555397
RefAuthors      Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., 
RefAuthors      Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., 
RefAuthors      Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, 
RefAuthors      P., Ritis, K.
RefTitle        Analysis of btk mutations in patients with X-linked 
RefTitle        agammaglobulinaemia (XLA) and determination of carrier 
RefTitle        status in normal female relatives: a nationwide study of 
RefTitle        btk deficiency in greece.
RefLoc          Scand J Immunol 54:321-327 (2001)
DB CrossRef     BTKbase; A0685
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 63965
Feature           /change: +a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1308
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 392
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_R600X(1); standard; MUTATION; TK
Accession       K00237
Systematic name g.68172A>T, c.1798A>T, r.1798a>u, p.Arg600X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0201
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68172
Feature           /change: a -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1930
Feature           /codon: aga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 600
Feature           /change: R -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_R544G(1); standard; MUTATION; TK
Accession       K00239
Systematic name g.66844A>G, c.1630A>G, r.1630a>g, p.Arg544Gly
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (31-May-2000) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0637
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66844
Feature           /change: a -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1762
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> G
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#R562X569(1); standard; MUTATION; TK
Accession       K00240
Systematic name g.67539C>T, c.1684C>T, r.1684c>u, p.Arg562Trp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; NO 001 M63 G1
DB CrossRef     BTKbase; A0243
DB CrossRef     ESID; NO 001 M63 G1
DB CrossRef     BTKbase; A0243
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67539
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1816
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562
Feature           /change: R -> W
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_C633Y(1); standard; MUTATION; TK
Accession       K00242
Systematic name g.68272G>A, c.1898G>A, r.1898g>a, p.Cys633Tyr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_69
DB CrossRef     SWISS-PROT; Q06187:633_633
DB CrossRef     BTKbase; A0320
DB CrossRef     SWISSCHANGE; BTK_HUMAN_69
DB CrossRef     SWISS-PROT; Q06187:633_633
DB CrossRef     BTKbase; A0320
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68272
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2030
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 633
Feature           /change: C -> Y
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_W563L(1); standard; MUTATION; TK
Accession       K00244
Systematic name g.67543G>T, c.1688G>T, r.1688g>u, p.Trp563Leu
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0503
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67543
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1820
Feature           /codon: tgg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 563
Feature           /change: W -> L
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_D521N(1); standard; MUTATION; TK
Accession       K00245
Systematic name g.65418G>A, c.1561G>A, r.1561g>a, p.Asp521Asn
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_46
DB CrossRef     SWISS-PROT; Q06187:521_521
DB CrossRef     BTKbase; A0199
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65418
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1693
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 521
Feature           /change: D -> N
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Disturbs catalysis; ref [2]
Protein struct  Disturbs catalysis; ref [2]
//
ID              BTK_@T628X649(1); standard; MUTATION; TK
Accession       K00246
Systematic name g.68255_68256insC, c.1881_1882insC, r.1881_1882insc,
Systematic name p.Thr628fsX8
Description     A frame shift insertion mutation in the exon 18 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (10-May-1995) to the BTKbase.
RefLoc          Christine Kinnon; Molecular Immunology  Unit, Institute of
RefLoc          Child Health, 30, Guilford Street, London WC1N 1EH, UK; Tel
RefLoc          44 (0) 171 829 8892; Fax 44 (0) 171 831 4366; e-mail
RefLoc          c.kinnon@ich.ucl.ac.uk
RefNumber       [1]
RefCrossRef     PUBMED; 7633429
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
DB CrossRef     BTKbase; A0157
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 68256
Feature           /change: +c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2014
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 628
Feature           /change: T -> HHHVQLLAX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_#S386X396(1); standard; MUTATION; TK
Accession       K00247
Systematic name g.63945delT, c.1156delT, r.1156delu, p.Ser386fsX16
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (03-Oct-2001) to BTKbase.
RefLoc          Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama 
RefLoc          Medical and Pharmaceutical University; 
RefLoc          Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp
RefNumber       [2]
RefCrossRef     Human Mutation, Mutation in Brief #446 (2001) Online
RefAuthors      Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., 
RefAuthors      Futatani, T., Tsukada, S., Miyawaki, T.
RefTitle        Bruton tyrosine kinase gene mutations in Turkish patients 
RefTitle        with presumed X-linked agammaglobulinemia
RefLoc          Hum. Mut. 18:356 (2001)
DB CrossRef     BTKbase; A0763
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 63945
Feature           /change: -t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1288
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 386
Feature           /change: S -> PLQAWDTDHG KLIQRTX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_P597T(1); standard; MUTATION; TK
Accession       K00248
Systematic name g.68163C>A, c.1789C>A, r.1789c>a, p.Pro597Thr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0592
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68163
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1921
Feature           /codon: cca -> aca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 597
Feature           /change: P -> T
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_W563X(1); standard; MUTATION; TK
Accession       K00249
Systematic name g.67543G>A, c.1688G>A, r.1688g>a, p.Trp563X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0408
DB CrossRef     BTKbase; A0408
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67543
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1820
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 563
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Truncated protein
Protein struct   ref [2]
Protein struct  Truncated protein; ref [2]
//
ID              BTK_A523E(1); standard; MUTATION; TK
Accession       K00251
Systematic name g.66782C>A, c.1568C>A, r.1568c>a, p.Ala523Glu
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester; Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH;
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef     BTKbase; A0522
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66782
Feature           /change: c -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1700
Feature           /codon: gca -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 523
Feature           /change: A -> E
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_378(1); standard; MUTATION; TK
Accession       K00252
Systematic name g.63920_63921ins6, c.1131_1132ins6, r.1131_1132ins6,
Systematic name p.Gln379fsX18
Description     A frame shift insertion mutation in the exon 13 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0752
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 63921
Feature           /change: +6
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1264
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 378
Feature           /change: S -> STKQECTFHC RPGIRIMGNX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@Y617X649(1); standard; MUTATION; TK
Accession       K00253
Systematic name g.68223_68224insC, c.1849_1850insC, r.1849_1850insc,
Systematic name p.Tyr617fsX19
Description     A frame shift insertion mutation in the exon 18 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0905
DB CrossRef     BTKbase; A0904
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 68224
Feature           /change: +c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1982
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 617
Feature           /change: Y -> SQASSGFREG IYHHVQLLAX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BTK_#S538X555(1); standard; MUTATION; TK
Accession       K00254
Systematic name g.66828delT, c.1614delT, r.1614delu, p.Asp539fsX16
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0584
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66828
Feature           /change: -t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1746
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 538
Feature           /change: S -> SISACPGMSW MMNTQAQX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Y476X(1); standard; MUTATION; TK
Accession       K00256
Systematic name g.65285delC, c.1428delC, r.1428delc, p.Tyr476X
Description     A deletion mutation in the exon 15 leading to a premature
Description     stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9143921
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; DE 0174 M80 G1
DB CrossRef     BTKbase; A0239
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 65285
Feature           /change: -c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1560
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 476
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_@M509X536(1); standard; MUTATION; TK
Accession       K00258
Systematic name g.65382dupA, c.1525dupA, r.1525dupa, p.Met509fsX27
Description     A frame shift duplication mutation in the exon 15 leading
Description     to a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0580
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 65383
Feature           /change: +a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1658
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509
Feature           /change: M -> NGIPGVKAVP SPRPGSSKLF GKRSRSCX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#I651X652(1); standard; MUTATION; TK
Accession       K00259
Systematic name g.71564delT, c.1952delT, r.1952delu, p.Leu652fsX0
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef     BTKbase; A0124
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 71564
Feature           /change: -t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2084
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 651
Feature           /change: I -> IX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_D521G(1); standard; MUTATION; TK
Accession       K00260
Systematic name g.65419A>G, c.1562A>G, r.1562a>g, p.Asp521Gly
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [4]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A0398
DB CrossRef     BTKbase; A1144
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65419
Feature           /change: a -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1694
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 521
Feature           /change: D -> G
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Invariant residue
Protein struct   ref [2]
//
ID              BTK_L408P(1); standard; MUTATION; TK
Accession       K00261
Systematic name g.64565T>C, c.1223T>C, r.1223u>c, p.Leu408Pro
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 18518992
RefAuthors      Sigmon, J. R., Kasasbeh, E., Krishnaswamy, G.
RefTitle        X-linked agammaglobulinemia diagnosed late in life: case 
RefTitle        report and review of the literature.
RefLoc          Clin Mol Allergy:5 (2008)
DB CrossRef     OMIM; 300300.0032
DB CrossRef     SWISSCHANGE; BTK_HUMAN_32
DB CrossRef     SWISS-PROT; Q06187:408_408
DB CrossRef     Swiss-Prot variant; VAR_006239
DB CrossRef     BTKbase; A0054
DB CrossRef     BTKbase; A0053
DB CrossRef     BTKbase; A1405
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64565
Feature           /change: t -> c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1355
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 408
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Moderate XLA
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
Protein struct  Destroys beta-sheet structure
Protein struct   ref [2]
Protein struct  Destroys beta-sheet structure
Protein struct   ref [2]
//
ID              BTK_L652P(1); standard; MUTATION; TK
Accession       K00262
Systematic name g.71567T>C, c.1955T>C, r.1955u>c, p.Leu652Pro
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0051
DB CrossRef     SWISSCHANGE; BTK_HUMAN_70
DB CrossRef     SWISS-PROT; Q06187:652_652
DB CrossRef     BTKbase; A0100
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71567
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2087
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 652
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Domain-domain interactions; ref [2]
//
ID              BTK_Q612X(1); standard; MUTATION; TK
Accession       K00263
Systematic name g.68208C>T, c.1834C>T, r.1834c>u, p.Gln612X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0437
DB CrossRef     BTKbase; A0741
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68208
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1966
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 612
Feature           /change: Q -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_R544K(1); standard; MUTATION; TK
Accession       K00264
Systematic name g.66845G>A, c.1631G>A, r.1631g>a, p.Arg544Lys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 19039656
RefAuthors      Wang, Y., Kanegane, H., Wang, X., Han, X., Zhang, Q., 
RefAuthors      Zhao, S., Yu, Y., Wang, J., Miyawaki, T.
RefTitle        Mutation of the BTK gene and clinical feature of X-linked 
RefTitle        agammaglobulinemia in mainland china.
RefLoc          J Clin Immunol:352-356 (2009)
RefNumber       [4]
RefCrossRef     PUBMED; 19904586
RefAuthors      Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, 
RefAuthors      W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., 
RefAuthors      Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L.
RefTitle        Clinical characteristics and genotype-phenotype 
RefTitle        correlation in 62 patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          J Clin Immunol:121-131 (2010)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_51
DB CrossRef     SWISS-PROT; Q06187:544_544
DB CrossRef     BTKbase; A0218
DB CrossRef     BTKbase; A1322
DB CrossRef     BTKbase; A1344
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66845
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1763
Feature           /codon: agg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> K
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Affects phosphotyrosine binding; ref [2]
//
ID              BTK_R641C(1); standard; MUTATION; TK
Accession       K00265
Systematic name g.71533C>T, c.1921C>T, r.1921c>u, p.Arg641Cys
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 7633429
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 9753052
RefAuthors      Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., 
RefAuthors      Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., 
RefAuthors      Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. 
RefTitle        Absence of Bruton's tyrosine kinase (Btk) mutations in 
RefTitle        patients with acute myeloid leukaemia
RefLoc          Br. J. Haematol. 102:1241-1248 (1998)
RefNumber       [4]
RefCrossRef     PUBMED; 10737994
RefCrossRef     Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors      Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle        Bruton's tyrosine kinase mutations in 8 chinese families 
RefTitle        with X-linked agammaglobulinemia
RefLoc          Hum. Mutat. 15:355 (2000)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_71
DB CrossRef     SWISS-PROT; Q06187:641_641
DB CrossRef     BTKbase; A0158
DB CrossRef     BTKbase; A0709
DB CrossRef     BTKbase; A0629
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71533
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2053
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> C
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Destroys stabilizing ion bond with E567
Protein struct   ref [2]
//
ID              BTK_W634X(1); standard; MUTATION; TK
Accession       K00266
Systematic name g.68276G>A, c.1902G>A, r.1902g>a, p.Trp634X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0321
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68276
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2034
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 634
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_M509T(1); standard; MUTATION; TK
Accession       K00267
Systematic name g.65383T>C, c.1526T>C, r.1526u>c, p.Met509Thr
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefLoc          Submitted (15-May-1999) to the BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber       [3]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 16712653
RefAuthors      Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L., 
RefAuthors      Lee, B. W., Yang, X., Lau, Y. L.
RefTitle        Identification of bruton tyrosine kinase mutations in 12 
RefTitle        chinese patients with X-linked agammaglobulinaemia by long 
RefTitle        PCR-direct sequencing.
RefLoc          Int J Immunogenet 33:205-209 (2006)
DB CrossRef     BTKbase; A0554
DB CrossRef     BTKbase; A0836
DB CrossRef     BTKbase; A1192
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65383
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1658
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509
Feature           /change: M -> T
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              BTK_#M489X498(1); standard; MUTATION; TK
Accession       K00268
Systematic name g.65324delG, c.1467delG, r.1467delg, p.Met489fsX10
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10612838
RefAuthors      Orlandi, P., Ritis, K., Moschese, V., Angelini, F., 
RefAuthors      Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., 
RefAuthors      Rossi, P.
RefTitle        Identification of nine novel mutations in the Bruton's 
RefTitle        tyrosine kinase gene in X-linked agammaglobulinemia patients
RefLoc          Hum. Mutat. 15:117 (2000)
DB CrossRef     BTKbase; A0623
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 65324
Feature           /change: -g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1599
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 489
Feature           /change: M -> IATASRLSSC X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@G389X398(1); standard; MUTATION; TK
Accession       K00269
Systematic name g.63955dupG, c.1166dupG, r.1166dupg, p.Leu390fsX8
Description     A frame shift duplication mutation in the exon 13 leading
Description     to a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0753
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 63956
Feature           /change: +g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1299
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 389
Feature           /change: G -> GPGIRIMGNX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_S578P(1); standard; MUTATION; TK
Accession       K00270
Systematic name g.67587T>C, c.1732T>C, r.1732u>c, p.Ser578Pro
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (26-Aug-2002) to BTKbase.
RefLoc          Dr. C.I.E. Smith; Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157 
RefLoc          Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
DB CrossRef     BTKbase; A0816
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67587
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1864
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 578
Feature           /change: S -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_M477R(1); standard; MUTATION; TK
Accession       K00271
Systematic name g.65287T>G, c.1430T>G, r.1430u>g, p.Met477Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8634718
RefAuthors      Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., 
RefAuthors      Webster, A. D. B., Smith, C. I. E.
RefTitle        Improved oligonucleotide primer set for molecular 
RefTitle        diagnosis of X-linked agammaglobulinemia: predominance of
RefTitle        amino acid substitutions in the catalytic domain of 
RefTitle        Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 4:2403-2405(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_37
DB CrossRef     SWISS-PROT; Q06187:477_477
DB CrossRef     BTKbase; A0204
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65287
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1562
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 477
Feature           /change: M -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Affects ATP binding
Protein struct   ref [2]
//
//
//
ID              BTK_Q497X(1); standard; MUTATION; TK
Accession       K00275
Systematic name g.65346C>T, c.1489C>T, r.1489c>u, p.Gln497X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [3]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     BTKbase; A0886
DB CrossRef     BTKbase; A0312
DB CrossRef     BTKbase; A0887
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65346
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1621
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 497
Feature           /change: Q -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              BTK_@S572X(1); standard; MUTATION; TK
Accession       K00277
Systematic name g.67568dupT, c.1713dupT, r.1713dupu, p.Ser572X
Description     A duplication mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (16-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester; Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH;
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef     BTKbase; A0525
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 67569
Feature           /change: +t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1846
Feature           /codon: agc -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 572
Feature           /change: S -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_V626G(1); standard; MUTATION; TK
Accession       K00278
Systematic name g.68251T>G, c.1877T>G, r.1877u>g, p.Val626Gly
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0345
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68251
Feature           /change: t -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2009
Feature           /codon: gta -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 626
Feature           /change: V -> G
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Unclear, alpha helix structural implication; ref [2]
//
ID              BTK_#P566X569(1); standard; MUTATION; TK
Accession       K00279
Systematic name g.67553delG, c.1698delG, r.1698delg, p.Glu567fsX2
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0504
DB CrossRef     BTKbase; A0533
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67553
Feature           /change: -g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1830
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 566
Feature           /change: P -> PKSX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#Y631X648(1); standard; MUTATION; TK
Accession       K00280
Systematic name g.68265delT, c.1891delT, r.1891delu, p.Tyr631fsX17
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef     BTKbase; A0137
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68265
Feature           /change: -t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2023
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 631
Feature           /change: Y -> TVVGMRKQMS VPLSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_E445D(1); standard; MUTATION; TK
Accession       K00281
Systematic name g.64677A>C, c.1335A>C, r.1335a>c, p.Glu445Asp
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0498
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64677
Feature           /change: a -> c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1467
Feature           /codon: gaa -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 445
Feature           /change: E -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_F644S(1); standard; MUTATION; TK
Accession       K00282
Systematic name g.71543T>C, c.1931T>C, r.1931u>c, p.Phe644Ser
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_73
DB CrossRef     SWISS-PROT; Q06187:644_644
DB CrossRef     BTKbase; A0322
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71543
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2063
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 644
Feature           /change: F -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#K382X402(1); standard; MUTATION; TK
Accession       K00283
Systematic name g.63934A>T, c.1145A>T, r.1145a>u, p.Lys382Met
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0576
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63934
Feature           /change: a -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1277
Feature           /codon: aag -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 382
Feature           /change: K -> M
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_M501T(1); standard; MUTATION; TK
Accession       K00285
Systematic name g.65359T>C, c.1502T>C, r.1502u>c, p.Met501Thr
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12204007
RefCrossRef     Human Mutation, Mutation in Brief #531 (2002) Online
RefAuthors      Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, 
RefAuthors      J., Vilela, M. M., Miyawaki, T.
RefTitle        Identification of mutations of bruton's tyrosine kinase 
RefTitle        gene (BTK) in brazilian patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          Hum. Mutat. 20:235-236 (2002)
DB CrossRef     BTKbase; A0842
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65359
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1634
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 501
Feature           /change: M -> T
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@A523X538(1); standard; MUTATION; TK
Accession       K00287
Systematic name g.66780_66781insA, c.1566_1567insA, r.1566_1567insa,
Systematic name p.Ala523fsX13
Description     A frame shift insertion mutation in the exon 16 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (01-Oct-2001) to BTKbase.
RefLoc          Michael Okoh; Department of Biosciences, Division of 
RefLoc          Biochemistry, P. O. Box 56, FIN-00014 University of 
RefLoc          Helsinki, Finland; Tel +358-9-19159682; e-mail 
RefLoc          okoh@helsinki.fi
RefNumber       [2]
RefCrossRef     PUBMED; 12442285
RefAuthors      Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., 
RefAuthors      Varming, K., Ruuskanen, O., Vihinen, M.
RefTitle        Novel insertions of bruton tyrosine kinase in patients 
RefTitle        with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 20:480-481 (2002)
DB CrossRef     BTKbase; A0796
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 66781
Feature           /change: +a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1699
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 523
Feature           /change: A -> SSSKLFGKRS RSCX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_G414R(1); standard; MUTATION; TK
Accession       K00289
Systematic name g.64582G>A, c.1240G>A, r.1240g>a, p.Gly414Arg
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Oct-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0335
DB CrossRef     Swiss-Prot variant; VAR_008313
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64582
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1372
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 414
Feature           /change: G -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  G-X-G-X-X-G(414) of the ATP binding site, no kinase
Protein struct  activity
Protein struct   ref [2]
//
ID              BTK_Y591X(1); standard; MUTATION; TK
Accession       K00290
Systematic name g.68147C>A, c.1773C>A, r.1773c>a, p.Tyr591X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
DB CrossRef     OMIM; 300300.0045
DB CrossRef     SWISSCHANGE; BTK_HUMAN_59
DB CrossRef     SWISS-PROT; Q06187:591_591
DB CrossRef     BTKbase; A0098
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68147
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1905
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 591
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_R525G(1); standard; MUTATION; TK
Accession       K00291
Systematic name g.66787C>G, c.1573C>G, r.1573c>g, p.Arg525Gly
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0500
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66787
Feature           /change: c -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1705
Feature           /codon: cga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> G
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#G556X562(1); standard; MUTATION; TK
Accession       K00292
Systematic name g.67523delC, c.1668delC, r.1668delc, p.Ser557fsX12
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (03-Oct-2001) to BTKbase.
RefLoc          Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama 
RefLoc          Medical and Pharmaceutical University; 
RefLoc          Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp
RefNumber       [2]
RefCrossRef     Human Mutation, Mutation in Brief #446 (2001) Online
RefAuthors      Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., 
RefAuthors      Futatani, T., Tsukada, S., Miyawaki, T.
RefTitle        Bruton tyrosine kinase gene mutations in Turkish patients 
RefTitle        with presumed X-linked agammaglobulinemia
RefLoc          Hum. Mut. 18:356 (2001)
DB CrossRef     BTKbase; A0760
DB CrossRef     BTKbase; A0761
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67523
Feature           /change: -c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1800
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 556
Feature           /change: G -> GPNFQSGGPH RKSX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BTK_R520G(1); standard; MUTATION; TK
Accession       K00293
Systematic name g.65415C>G, c.1558C>G, r.1558c>g, p.Arg520Gly
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0888
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65415
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1690
Feature           /codon: cga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> G
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_P565L(1); standard; MUTATION; TK
Accession       K00296
Systematic name g.67549C>T, c.1694C>T, r.1694c>u, p.Pro565Leu
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (28-Dec-2000) to the BTKbase.
RefLoc          Donn M. Stewart; Metabolism Branch, NCI, NIH, 10 Center 
RefLoc          Drive MSC 1374, Bethesda MD 20892-1374;
RefLoc          fax: 301-496-9956; e-mail dstew@helix.nih.gov
RefNumber       [2]
RefCrossRef     PUBMED; 11286545
RefAuthors      Stewart, D. M., Tian, L., Nelson, D. L.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        A case of X-linked agammaglobulinemia diagnosed in 
RefTitle        adulthood
RefLoc          Clin. Immunol. 99:94-99(2001)
DB CrossRef     BTKbase; A0727
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67549
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1826
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 565
Feature           /change: P -> L
Feature           /domain: TK
Diagnosis       Moderate XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_L518R(1); standard; MUTATION; TK
Accession       K00299
Systematic name g.65410T>G, c.1553T>G, r.1553u>g, p.Leu518Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs; Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0539
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65410
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1685
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 518
Feature           /change: L -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_M630T(1); standard; MUTATION; TK
Accession       K00300
Systematic name g.68263T>C, c.1889T>C, r.1889u>c, p.Met630Thr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0439
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68263
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2021
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> T
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_S575R(1); standard; MUTATION; TK
Accession       K00301
Systematic name g.67580C>A, c.1725C>A, r.1725c>a, p.Ser575Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (30-May-2001) to BTKbase.
RefLoc          Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan 
RefLoc          Casariego; Unidad de Inmunologia, Hospital La Paz. 
RefLoc          Castellana 261, Madrid 28046, Spain; Fax 91 7277095; 
RefLoc          e-mail mcruzgarcia@hulp.insalud.es
DB CrossRef     BTKbase; A0772
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67580
Feature           /change: c -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1857
Feature           /codon: agc -> aga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 575
Feature           /change: S -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#R492X499(1); standard; MUTATION; TK
Accession       K00302
Systematic name g.65333delC, c.1476delC, r.1476delc, p.Phe493fsX6
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0433
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 65333
Feature           /change: -c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1608
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 492
Feature           /change: R -> RSRLSSCX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@E636X637(1); standard; MUTATION; TK
Accession       K00303
Systematic name g.68279dupT, c.1905dupT, r.1905dupu, p.Glu636X
Description     A duplication mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10612838
RefAuthors      Orlandi, P., Ritis, K., Moschese, V., Angelini, F., 
RefAuthors      Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., 
RefAuthors      Rossi, P.
RefTitle        Identification of nine novel mutations in the Bruton's 
RefTitle        tyrosine kinase gene in X-linked agammaglobulinemia patients
RefLoc          Hum. Mutat. 15:117 (2000)
DB CrossRef     BTKbase; A0624
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: EMBL: U78027: 68280
Feature           /change: +t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2038
Feature           /codon: gag -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 636
Feature           /change: E -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#D401X404(1); standard; MUTATION; TK
Accession       K00304
Systematic name g.64545delC, c.1203delC, r.1203delc, p.Leu402fsX0
Description     A frame shift deletion mutation in the exon 14 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0885
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 64545
Feature           /change: -c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1335
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 401
Feature           /change: D -> DX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_#L616-1(1); standard; MUTATION; TK
Accession       K00306
Systematic name g.68220delC, c.1846delC, r.1846delc, p.Leu616fsX32
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68220
Feature           /change: -c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1978
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 616
Feature           /change: L -> STGLIWLQRR YIPSCTVVGM RKQMSVPLSK FFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_W581R(1); standard; MUTATION; TK
Accession       K00307
Systematic name g.67596T>C, c.1741T>C, r.1741u>c, p.Trp581Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 7849697
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
DB CrossRef     BTKbase; A0900
DB CrossRef     OMIM; 300300.0043
DB CrossRef     SWISSCHANGE; BTK_HUMAN_55
DB CrossRef     SWISS-PROT; Q06187:581_581
DB CrossRef     BTKbase; A0097
DB CrossRef     BTKbase; A0899
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67596
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1873
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 581
Feature           /change: W -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Destabilization of hydrophobic packing; ref [2]
//
ID              BTK_P566S(1); standard; MUTATION; TK
Accession       K00308
Systematic name g.67551C>T, c.1696C>T, r.1696c>u, p.Pro566Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11438999
RefCrossRef     Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors      Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira 
RefAuthors      Cerdan, A., Fontan Casariego, G.
RefTitle        Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain
RefLoc          Hum. Mut. 18:84 (2001)
DB CrossRef     BTKbase; A0740
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67551
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1828
Feature           /codon: ccg -> tcg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 566
Feature           /change: P -> S
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_S538P(1); standard; MUTATION; TK
Accession       K00309
Systematic name g.66826T>C, c.1612T>C, r.1612u>c, p.Ser538Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0894
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66826
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1744
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 538
Feature           /change: S -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@Y627X651(1); standard; MUTATION; TK
Accession       K00310
Systematic name g.68253T>C, c.1879T>C, r.1879u>c, p.Tyr627His
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10887125
RefAuthors      Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., 
RefAuthors      Agematsu, K., Murakami, G., Sakazume, S., Sako, M., 
RefAuthors      Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors      K., Kishimoto, T., Miyawaki, T.
RefTitle        Genetic defect in human X-linked agammaglobulinemia 
RefTitle        impedes a maturational evolution of pro-B cells into a 
RefTitle        later stage of pre-B cells in the B-cell differentiation 
RefTitle        pathway
RefLoc          Blood 96:610-617(2000)
DB CrossRef     BTKbase; A0724
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68253
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2011
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 627
Feature           /change: Y -> H
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_I429N(1); standard; MUTATION; TK
Accession       K00311
Systematic name g.64628T>A, c.1286T>A, r.1286u>a, p.Ile429Asn
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Oct-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8634718
RefAuthors      Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., 
RefAuthors      Webster, A. D. B., Smith, C. I. E.
RefTitle        Improved oligonucleotide primer set for molecular 
RefTitle        diagnosis of X-linked agammaglobulinemia: predominance of
RefTitle        amino acid substitutions in the catalytic domain of 
RefTitle        Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 4:2403-2405(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_34
DB CrossRef     SWISS-PROT; Q06187:429_429
DB CrossRef     BTKbase; A0203
DB CrossRef     Swiss-Prot variant; VAR_006241
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64628
Feature           /change: t -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1418
Feature           /codon: atc -> aac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 429
Feature           /change: I -> N
Feature           /domain: TK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Disturbs domain-domain interactions
Protein struct   ref [2]
//
ID              BTK_#M489X498(2); standard; MUTATION; TK
Accession       K00312
Systematic name g.65323delT, c.1466delT, r.1466delu, p.Met489fsX10
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9753052
RefAuthors      Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., 
RefAuthors      Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., 
RefAuthors      Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. 
RefTitle        Absence of Bruton's tyrosine kinase (Btk) mutations in 
RefTitle        patients with acute myeloid leukaemia
RefLoc          Br. J. Haematol. 102:1241-1248 (1998)
DB CrossRef     BTKbase; A0674
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 65323
Feature           /change: -t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1598
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 489
Feature           /change: M -> SATASRLSSC X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_V537E(1); standard; MUTATION; TK
Accession       K00313
Systematic name g.66824T>A, c.1610T>A, r.1610u>a, p.Val537Glu
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10844531
RefAuthors      Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., 
RefAuthors      Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., 
RefAuthors      Komiyama, A., Miyawaki, T.
RefTitle        Detection of Bruton's tyrosine kinase mutations in 
RefTitle        hypogammaglobulinaemic males registered as common variable
RefTitle        immunodeficiency (CVID) in the Japanese Immunodeficiency 
RefTitle        Registry
RefLoc          Clin. Exp. Immunol. 120:512-517(2000)
DB CrossRef     BTKbase; A0712
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66824
Feature           /change: t -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1742
Feature           /codon: gta -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 537
Feature           /change: V -> E
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R525P(1); standard; MUTATION; TK
Accession       K00314
Systematic name g.66788G>C, c.1574G>C, r.1574g>c, p.Arg525Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10859027
RefAuthors      Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K.,
RefAuthors      Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras,
RefAuthors      P., Finocchi, A., Livadiotti, S., Rossi, P.
RefTitle        X-chromosome inactivation and mutation pattern in the 
RefTitle        Bruton's tyrosine kinase gene in patients with X-linked 
RefTitle        agammaglobulinemia. Italian XLA Collaborative Group
RefLoc          Mol. Med. 6:104-113(2000)
RefNumber       [2]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene 
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [3]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [4]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0703
DB CrossRef     SWISSCHANGE; BTK_HUMAN_47
DB CrossRef     SWISS-PROT; Q06187:525_525
DB CrossRef     BTKbase; A0119
DB CrossRef     BTKbase; A0974
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66788
Feature           /change: g -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1706
Feature           /codon: cga -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> P
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Classical XLA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Protein struct  Distortion of catalytic site
Protein struct   ref [2]
//
ID              BTK_Q612P(1); standard; MUTATION; TK
Accession       K00315
Systematic name g.68209A>C, c.1835A>C, r.1835a>c, p.Gln612Pro
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0903
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68209
Feature           /change: a -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1967
Feature           /codon: caa -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 612
Feature           /change: Q -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Q379X(1); standard; MUTATION; TK
Accession       K00316
Systematic name g.63924C>T, c.1135C>T, r.1135c>u, p.Gln379X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany; 
RefLoc          FAX 498 951 604 928;
RefNumber       [2]
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany;
RefNumber       [2]
RefCrossRef     PUBMED; 9445504
RefAuthors      Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., 
RefAuthors      Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     BTKbase; A0334
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 63924
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1267
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 379
Feature           /change: Q -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Truncated protein; ref [2]
//
ID              BTK_#G533X555(1); standard; MUTATION; TK
Accession       K00317
Systematic name g.66811delG, c.1597delG, r.1597delg, p.Gly533fsX22
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0501
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66811
Feature           /change: -g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1729
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 533
Feature           /change: G -> ELLKYLISAC PGMSWMMNTQ AQX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_G541D(1); standard; MUTATION; TK
Accession       K00319
Systematic name g.66836G>A, c.1622G>A, r.1622g>a, p.Gly541Asp
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0895
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66836
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1754
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 541
Feature           /change: G -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_#H635X648(1); standard; MUTATION; TK
Accession       K00321
Systematic name g.68278delA, c.1904delA, r.1904dela, p.His635fsX13
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
RefNumber       [2]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A0597
DB CrossRef     BTKbase; A1180
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68278
Feature           /change: -a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2036
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 635
Feature           /change: H -> LRKQMSVPLS KFFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_C502F(1); standard; MUTATION; TK
Accession       K00322
Systematic name g.65362G>T, c.1505G>T, r.1505g>u, p.Cys502Phe
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_38
DB CrossRef     SWISS-PROT; Q06187:502_502
DB CrossRef     BTKbase; A0182
DB CrossRef     BTKbase; A0183
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65362
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1637
Feature           /codon: tgc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> F
Feature           /domain: TK
Diagnosis       Moderate XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Protein struct  Affects stabilizing interactions
Protein struct   ref [2]
Protein struct  Affects stabilizing interactions
Protein struct   ref [2]
//
ID              BTK_L486P(1); standard; MUTATION; TK
Accession       K00323
Systematic name g.65314T>C, c.1457T>C, r.1457u>c, p.Leu486Pro
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11472359
RefAuthors      Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, 
RefAuthors      H. D.
RefTitle        Bruton's tyrosine kinase is present in normal platelets 
RefTitle        and its absence identifies patients with X-linked 
RefTitle        agammaglobulinaemia and carrier females
RefLoc          Br. J. Haematol. 114:141-149(2001)
DB CrossRef     BTKbase; A0743
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65314
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1589
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 486
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#I590X648(1); standard; MUTATION; TK
Accession       K00324
Systematic name g.68142delA, c.1768delA, r.1768dela, p.Ile590fsX58
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12655572
RefCrossRef     Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors      Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., 
RefAuthors      Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., 
RefAuthors      Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., 
RefAuthors      Zelazko, M.
RefTitle        Bruton tyrosine kinase gene mutations in argentina.
RefLoc          Hum Mutat 21:451 (2003)
DB CrossRef     BTKbase; A0902
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68142
Feature           /change: -a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1900
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 590
Feature           /change: I -> 
Feature           /change: FTPWGRCHMR DLLTVRLLNT LPKAYVSTGL IWLQRRYIPS
Feature           /change: CTVVGMRKQM SVPLSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_S592P(1); standard; MUTATION; TK
Accession       K00325
Systematic name g.68148T>C, c.1774T>C, r.1774u>c, p.Ser592Pro
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8834236
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_60
DB CrossRef     SWISS-PROT; Q06187:592_592
DB CrossRef     BTKbase; A0219
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68148
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1906
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 592
Feature           /change: S -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_S592Y(1); standard; MUTATION; TK
Accession       K00326
Systematic name g.68149C>A, c.1775C>A, r.1775c>a, p.Ser592Tyr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10844531
RefAuthors      Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., 
RefAuthors      Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., 
RefAuthors      Komiyama, A., Miyawaki, T.
RefTitle        Detection of Bruton's tyrosine kinase mutations in 
RefTitle        hypogammaglobulinaemic males registered as common variable
RefTitle        immunodeficiency (CVID) in the Japanese Immunodeficiency 
RefTitle        Registry
RefLoc          Clin. Exp. Immunol. 120:512-517(2000)
DB CrossRef     BTKbase; A0714
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68149
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1907
Feature           /codon: tcc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 592
Feature           /change: S -> Y
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Y485X(1); standard; MUTATION; TK
Accession       K00327
Systematic name g.65312C>A, c.1455C>A, r.1455c>a, p.Tyr485X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefAuthors      Noordzij, J.G.
RefTitle        Genotypic and phenotypic aspects of primary
RefTitle        immunodeficiency diseases of the lymphoid system
RefLoc          Thesis (2002), Erasmus University Rotterdam,
RefLoc          The Netherlands
RefNumber       [2]
RefCrossRef     PUBMED; 11809909
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. 
RefAuthors      M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van 
RefAuthors      Dongen, J. J.
RefTitle        Composition of precursor B-cell compartment in bone marrow 
RefTitle        from patients with X-linked agammaglobulinemia compared 
RefTitle        with healthy children.
RefLoc          Pediatr. Res. 51:159-168 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 12405164
RefAuthors      Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., 
RefAuthors      Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van 
RefAuthors      Lierde, S., de Groot, R., van Dongen, J. J.
RefTitle        XLA patients with BTK splice-site mutations produce low 
RefTitle        levels of wild-type BTK transcripts.
RefLoc          J. Clin. Immunol. 22:306-318 (2002)
DB CrossRef     BTKbase; A0819
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65312
Feature           /change: c -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1587
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 485
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#L621X648(1); standard; MUTATION; TK
Accession       K00329
Systematic name g.68237delG, c.1863delG, r.1863delg, p.Ala622fsX26
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs; Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0536
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68237
Feature           /change: -g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1995
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 621
Feature           /change: L -> LLQRRYIPSC TVVGMRKQMS VPLSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_E589D(1); standard; MUTATION; TK
Accession       K00330
Systematic name g.68141A>T, c.1767A>T, r.1767a>u, p.Glu589Asp
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7554467
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     BTKbase; A0260
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68141
Feature           /change: a -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1899
Feature           /codon: gaa -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 589
Feature           /change: E -> D
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Affects substrate binding
Protein struct   ref [2]
//
ID              BTK_K430R(1); standard; MUTATION; TK
Accession       K00331
Systematic name g.64631A>G, c.1289A>G, r.1289a>g, p.Lys430Arg
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8938104
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E.
RefTitle        Neutropenia in X-linked agammaglobulinemia 
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9545398
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     BTKbase; A0466
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64631
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1421
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_G594R(2); standard; MUTATION; TK
Accession       K00333
Systematic name g.68154G>A, c.1780G>A, r.1780g>a, p.Gly594Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7711734
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_62
DB CrossRef     SWISS-PROT; Q06187:594_594
DB CrossRef     BTKbase; A0123
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68154
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1912
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Affects substrate binding
Protein struct   ref [2]
//
ID              BTK_@I610X649(1); standard; MUTATION; TK
Accession       K00334
Systematic name g.68202_68203insC, c.1828_1829insC, r.1828_1829insc,
Systematic name p.Ile610fsX26
Description     A frame shift insertion mutation in the exon 18 leading to
Description     a premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (01-Oct-2001) to BTKbase.
RefLoc          Michael Okoh; Department of Biosciences, Division of 
RefLoc          Biochemistry, P. O. Box 56, FIN-00014 University of 
RefLoc          Helsinki, Finland; Tel +358-9-19159682; e-mail 
RefLoc          okoh@helsinki.fi
RefNumber       [2]
RefCrossRef     PUBMED; 12442285
RefAuthors      Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., 
RefAuthors      Varming, K., Ruuskanen, O., Vihinen, M.
RefTitle        Novel insertions of bruton tyrosine kinase in patients 
RefTitle        with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 20:480-481 (2002)
DB CrossRef     BTKbase; A0799
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 68203
Feature           /change: +c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1961
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 610
Feature           /change: I -> TCPRPTSLQA SSGFREGIYH HVQLLAX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#G584X586(1); standard; MUTATION; TK
Accession       K00335
Systematic name g.67605delG, c.1750delG, r.1750delg, p.Val585fsX1
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (22-Sep-1997) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
DB CrossRef     BTKbase; A0453
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67605
Feature           /change: -g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1882
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 584
Feature           /change: G -> GFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
ID              BTK_P619A(1); standard; MUTATION; TK
Accession       K00337
Systematic name g.68229C>G, c.1855C>G, r.1855c>g, p.Pro619Ala
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH; 
RefLoc          Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef     BTKbase; A0438
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68229
Feature           /change: c -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1987
Feature           /codon: cct -> gct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> A
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_M587L(1); standard; MUTATION; TK
Accession       K00338
Systematic name g.68133A>C, c.1759A>C, r.1759a>c, p.Met587Leu
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7633420
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_57
DB CrossRef     SWISS-PROT; Q06187:587_587
DB CrossRef     BTKbase; A0136
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68133
Feature           /change: a -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1891
Feature           /codon: atg -> ctg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 587
Feature           /change: M -> L
Feature           /domain: TK
Diagnosis       Mild XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Destabilization of hydrophobic packing; ref [2]
//
ID              BTK_C502X(1); standard; MUTATION; TK
Accession       K00339
Systematic name g.65363C>A, c.1506C>A, r.1506c>a, p.Cys502X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7849721
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0034
DB CrossRef     BTKbase; A0055
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65363
Feature           /change: c -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1638
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Premature stop
//
//
ID              BTK_L569P(1); standard; MUTATION; TK
Accession       K00341
Systematic name g.67561T>C, c.1706T>C, r.1706u>c, p.Leu569Pro
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (07-Jul-1999) to the BTKbase.
RefLoc          Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc          Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc          TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc          e-mail maryellen.conley@stjude.org
DB CrossRef     BTKbase; A0588
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67561
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1838
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 569
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Y418H(1); standard; MUTATION; TK
Accession       K00342
Systematic name g.64594T>C, c.1252T>C, r.1252u>c, p.Tyr418His
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            28-Oct-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs; Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA; 
RefLoc          e-mail allgau@u.washington.edu
RefNumber       [2]
RefCrossRef     PUBMED; 7809124
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_33
DB CrossRef     SWISS-PROT; Q06187:418_418
DB CrossRef     BTKbase; A0198
DB CrossRef     Swiss-Prot variant; VAR_006240
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64594
Feature           /change: t -> c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1384
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 418
Feature           /change: Y -> H
Feature           /domain: TK
Diagnosis       Moderate XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Disturbs domain-domain interactions
Protein struct   ref [2]
//
ID              BTK_D521H(1); standard; MUTATION; TK
Accession       K00344
Systematic name g.65418G>C, c.1561G>C, r.1561g>c, p.Asp521His
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8695804
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9427714
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_45
DB CrossRef     SWISS-PROT; Q06187:521_521
DB CrossRef     BTKbase; A0315
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65418
Feature           /change: g -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1693
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 521
Feature           /change: D -> H
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MERTK_R651X(1); standard; MUTATION; PK
Accession       K00345
Systematic name g.110731C>T, c.1951C>T, r.1951c>u, p.Arg651X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11062461
RefAuthors      Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., 
RefAuthors      Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D.
RefTitle        Mutations in MERTK, the human orthologue of the RCS rat 
RefTitle        retinal dystrophy gene, cause retinitis pigmentosa.
RefLoc          Nat Genet 26:270-271 (2000)
DB CrossRef     OMIM; 604705.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MERTK_DNA: 110731
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U08023; GI:10720097; HS08023: 2088
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: MERK_HUMAN: 651
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Retinitis pigmentosa
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MERTK_#T690X732(1); standard; MUTATION; PK
Accession       K00346
Systematic name g.112322delA, c.2070delA, r.2070dela, p.Gly691fsX10
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11062461
RefAuthors      Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., 
RefAuthors      Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D.
RefTitle        Mutations in MERTK, the human orthologue of the RCS rat 
RefTitle        retinal dystrophy gene, cause retinitis pigmentosa.
RefLoc          Nat Genet 26:270-271 (2000)
DB CrossRef     OMIM; 604705.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: MERTK_DNA: 112322
Feature           /change: -a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U08023; GI:10720097; HS08023: 2207
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: MERK_HUMAN: 690
Feature           /change: T -> TDQSIFLCRH YX
Feature           /domain: PK
Diagnosis       Retinitis pigmentosa
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              KIT_R796G(1); standard; MUTATION; PK
Accession       K00347
Systematic name g.76079A>G, c.2386A>G, r.2386a>g, p.Arg796Gly
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9450866
RefAuthors      Spritz, R. A., Beighton, P.
RefTitle        Piebaldism with deafness: molecular evidence for an 
RefTitle        expanded syndrome.
RefLoc          Am J Med Genet 75:101-103 (1998)
DB CrossRef     OMIM; 164920.0016
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76079
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2407
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 796
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              KIT_T847P(1); standard; MUTATION; PK
Accession       K00348
Systematic name g.79537A>C, c.2539A>C, r.2539a>c, p.Thr847Pro
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9699740
RefAuthors      Nomura, K., Hatayama, I., Narita, T., Kaneko, T., 
RefAuthors      Shiraishi, M.
RefTitle        A novel KIT gene missense mutation in a japanese family 
RefTitle        with piebaldism.
RefLoc          J Invest Dermatol 111:337-338 ()
DB CrossRef     OMIM; 164920.0019
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 79537
Feature           /change: a -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2560
Feature           /codon: acg -> ccg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 847
Feature           /change: T -> P
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              KIT_D816H(1); standard; MUTATION; PK
Accession       K00349
Systematic name g.76139G>C, c.2446G>C, r.2446g>c, p.Asp816His
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 10362788
RefAuthors      Tian, Q., Frierson, H. F., Krystal, G. W., Moskaluk, C. A.
RefTitle        Activating c-kit gene mutations in human germ cell tumors.
RefLoc          Am J Pathol 154:1643-1647 ()
RefNumber       [2]
RefCrossRef     PUBMED; 14695343
RefAuthors      Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, 
RefAuthors      L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., 
RefAuthors      Town, A., Heinrich, M. C.
RefTitle        KIT mutations are common in testicular seminomas.
RefLoc          Am J Pathol 164:305-313 (2004)
RefNumber       [3]
RefCrossRef     PUBMED; 12824871
RefAuthors      Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, 
RefAuthors      K.
RefTitle        Alterations of the c-kit gene in testicular germ cell 
RefTitle        tumors.
RefLoc          Cancer Sci 94:486-491 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 12701114
RefAuthors      Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., 
RefAuthors      Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, 
RefAuthors      M., Brynes, R. K.
RefTitle        Systemic mastocytosis with associated clonal hematological 
RefTitle        non-mast-cell lineage disease: analysis of 
RefTitle        clinicopathologic features and activating c-kit mutations.
RefLoc          Am J Hematol 73:12-17 (2003)
RefNumber       [11]
RefCrossRef     PUBMED; 16129374
RefAuthors      Grimpen, F., Yip, D., McArthur, G., Waring, P., Goldstein, 
RefAuthors      D., Loughrey, M., Beshay, V., Chong, G.
RefTitle        Resistance to imatinib, low-grade FDG-avidity on PET, and 
RefTitle        acquired KIT exon 17 mutation in gastrointestinal stromal 
RefTitle        tumour.
RefLoc          Lancet Oncol 6:724-7
DB CrossRef     OMIM; 164920.0021
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76139
Feature           /change: g -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2467
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 816
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Germ cell tumor
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 10; Patients: 10; Homozygotes: 0
//
ID              KIT_#K642X648(2); standard; MUTATION; PK
Accession       K00350
Systematic name g.71040delA, c.1924delA, r.1924dela, p.Val643fsX1
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 1279971
RefAuthors      Spritz, R. A., Droetto, S., Fukushima, Y.
RefTitle        Deletion of the KIT and PDGFRA genes in a patient with 
RefTitle        piebaldism.
RefLoc          Am J Med Genet 44:492-495 ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 71040
Feature           /change: -a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1945
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 642
Feature           /change: K -> KSX
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              KIT_R791G(1); standard; MUTATION; PK
Accession       K00351
Systematic name g.76064A>G, c.2371A>G, r.2371a>g, p.Arg791Gly
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7687267
RefAuthors      Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W.
RefTitle        Novel mutations of the KIT (mast/stem cell growth factor 
RefTitle        receptor) proto-oncogene in human piebaldism.
RefLoc          J Invest Dermatol 101:22-25 ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76064
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2392
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 791
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              KIT_G812V(1); standard; MUTATION; PK
Accession       K00352
Systematic name g.76128G>T, c.2435G>T, r.2435g>u, p.Gly812Val
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7687267
RefAuthors      Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W.
RefTitle        Novel mutations of the KIT (mast/stem cell growth factor 
RefTitle        receptor) proto-oncogene in human piebaldism.
RefLoc          J Invest Dermatol 101:22-25 ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76128
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2456
Feature           /codon: ggt -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 812
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 3; Homozygotes: 
//
ID              KIT_D816Y(1); standard; MUTATION; PK
Accession       K00353
Systematic name g.76139G>T, c.2446G>T, r.2446g>u, p.Asp816Tyr
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 9657776
RefAuthors      Beghini, A., Larizza, L., Cairoli, R., Morra, E.
RefTitle        C-kit activating mutations and mast cell proliferation in 
RefTitle        human leukemia.
RefLoc          Blood 92:701-702 ()
RefNumber       [2]
RefCrossRef     PUBMED; 12598308
RefAuthors      Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, 
RefAuthors      S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B.
RefTitle        One-step detection of c-kit point mutations using peptide 
RefTitle        nucleic acid-mediated polymerase chain reaction clamping 
RefTitle        and hybridization probes.
RefLoc          Am J Pathol 162:737-746 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 16384925
RefAuthors      Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, 
RefAuthors      F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., 
RefAuthors      Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, 
RefAuthors      F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, 
RefAuthors      L., Morra, E.
RefTitle        Prognostic impact of c-KIT mutations in core binding 
RefTitle        factor leukemias: an italian retrospective study.
RefLoc          Blood:3463-3468 (2006)
RefNumber       [24]
RefCrossRef     PUBMED; 19865100
RefAuthors      Bodemer, C., Hermine, O., Palmerini, F., Yang, Y., 
RefAuthors      Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., 
RefAuthors      Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., 
RefAuthors      Launay, J. M., Barete, S., Feger, F., Arock, M., Catteau, 
RefAuthors      B., Sans, B., Stalder, J. F., Skowron, F., Thomas, L., 
RefAuthors      Lorette, G., Plantin, P., Bordigoni, P., Lortholary, O., 
RefAuthors      de Prost, Y., Moussy, A., Sobol, H., Dubreuil, P.
RefTitle        Pediatric mastocytosis is a clonal disease associated with 
RefTitle        D816V and other activating c-KIT mutations.
RefLoc          J Invest Dermatol 130:804-15
DB CrossRef     OMIM; 164920.0018
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76139
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2467
Feature           /codon: gac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 816
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Diagnosis       Childhood-onset sporadic mastocytosis
Occurrence      Families: 7; Patients: 7; Homozygotes: 0
//
ID              KIT_#E893-4(1); standard; MUTATION; PK
Accession       K00354
Systematic name g.79787delA, c.2678delA, r.2678dela, p.Glu893fsX9
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the PK domain
Date            22-Sep-2003 (Rel. 2, Created)
Date            22-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8680409
RefAuthors      Riva, P., Milani, N., Gandolfi, P., Larizza, L.
RefTitle        A 12-bp deletion (7818del12) in the c-kit protooncogene in 
RefTitle        a large italian kindred with piebaldism.
RefLoc          Hum Mutat 6:343-345 ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 79787
Feature           /change: -a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2699
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 893
Feature           /change: E -> DTHLLKCMTX
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 3; Homozygotes: 
//
ID              FGFR3_N540S(1); standard; MUTATION; PK
Accession       K00355
Systematic name g.12748A>G, c.1619A>G, r.1619a>g, p.Asn540Ser
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10777366
RefAuthors      Mortier, G., Nuytinck, L., Craen, M., Renard, J. P., 
RefAuthors      Leroy, J. G., de Paepe, A.
RefTitle        Clinical and radiographic features of a family with 
RefTitle        hypochondroplasia owing to a novel asn540Ser mutation in 
RefTitle        the fibroblast growth factor receptor 3 gene.
RefLoc          J Med Genet 37:220-224 (2000)
DB CrossRef     OMIM; 134934.0023
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12748
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1658
Feature           /codon: aac -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 540
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 1; Patients: 2; Homozygotes: 
//
ID              FGFR3_K650N(1); standard; MUTATION; PK
Accession       K00356
Systematic name g.13269G>T, c.1950G>T, r.1950g>u, p.Lys650Asn
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11055896
RefAuthors      Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. 
RefAuthors      A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. 
RefAuthors      S., Webster, M. K., Donoghue, D. J., Francomano, C. A.
RefTitle        Distinct missense mutations of the FGFR3 lys650 codon 
RefTitle        modulate receptor kinase activation and the severity of 
RefTitle        the skeletal dysplasia phenotype.
RefLoc          Am J Hum Genet 67:1411-1421 ()
DB CrossRef     OMIM; 134934.0020
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13269
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1989
Feature           /codon: aag -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 650
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              FGFR3_K650N(2); standard; MUTATION; PK
Accession       K00357
Systematic name g.13269G>C, c.1950G>C, r.1950g>c, p.Lys650Asn
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11055896
RefAuthors      Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. 
RefAuthors      A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. 
RefAuthors      S., Webster, M. K., Donoghue, D. J., Francomano, C. A.
RefTitle        Distinct missense mutations of the FGFR3 lys650 codon 
RefTitle        modulate receptor kinase activation and the severity of 
RefTitle        the skeletal dysplasia phenotype.
RefLoc          Am J Hum Genet 67:1411-1421 ()
DB CrossRef     OMIM; 134934.0021
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13269
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1989
Feature           /codon: aag -> aac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 650
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 3; Patients: 4; Homozygotes: 
//
ID              FGFR3_K650Q(1); standard; MUTATION; PK
Accession       K00358
Systematic name g.13267A>C, c.1948A>C, r.1948a>c, p.Lys650Gln
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 11055896
RefAuthors      Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. 
RefAuthors      A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. 
RefAuthors      S., Webster, M. K., Donoghue, D. J., Francomano, C. A.
RefTitle        Distinct missense mutations of the FGFR3 lys650 codon 
RefTitle        modulate receptor kinase activation and the severity of 
RefTitle        the skeletal dysplasia phenotype.
RefLoc          Am J Hum Genet 67:1411-1421 ()
RefNumber       [38]
RefCrossRef     PUBMED; 17585316
RefAuthors      Hafner, C., Hartmann, A., van Oers, J. M., Stoehr, R., 
RefAuthors      Zwarthoff, E. C., Hofstaedter, F., Landthaler, M., Vogt, 
RefAuthors      T.
RefTitle        FGFR3 mutations in seborrheic keratoses are already 
RefTitle        present in flat lesions and associated with age and 
RefTitle        localization.
RefLoc          Mod Pathol 20:895-903
DB CrossRef     OMIM; 134934.0022
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13267
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1987
Feature           /codon: aag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 650
Feature           /change: K -> Q
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Diagnosis       
Diagnosis       Urothelial cell carcinoma (UCC)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ROR2_W720X(1); standard; MUTATION; STR1
Accession       K00359
Systematic name g.226829G>A, c.2160G>A, r.2160g>a, p.Trp720X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the STR1 domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10932187
RefAuthors      van Bokhoven, H., Celli, J., Kayserili, H., van Beusekom, 
RefAuthors      E., Balci, S., Brussel, W., Skovby, F., Kerr, B., Percin, 
RefAuthors      E. F., Akarsu, N., Brunner, H. G.
RefTitle        Mutation of the gene encoding the ROR2 tyrosine kinase 
RefTitle        causes autosomal recessive robinow syndrome.
RefLoc          Nat Genet 25:423-426 ()
DB CrossRef     OMIM; 602337.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ROR2_DNA: 226829
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M97639; GI:13878706; HSROR2A: 2359
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ROR2_HUMAN: 720
Feature           /change: W -> X
Feature           /domain: STR1
Diagnosis       Robinow syndrome
Occurrence      Families: 1; Patients: 4; Homozygotes: 4
//
ID              ROR2_N620K(1); standard; MUTATION; STR1
Accession       K00360
Systematic name g.226529T>A, c.1860T>A, r.1860u>a, p.Asn620Lys
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the STR1 domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            24-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10932186
RefAuthors      Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., 
RefAuthors      Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., 
RefAuthors      Patton, M. A., Wilkie, A. O., Jeffery, S.
RefTitle        Recessive robinow syndrome, allelic to dominant 
RefTitle        brachydactyly type B, is caused by mutation of ROR2.
RefLoc          Nat Genet 25:419-422 ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ROR2_DNA: 226529
Feature           /change: t -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M97639; GI:13878706; HSROR2A: 2059
Feature           /codon: aat -> aaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ROR2_HUMAN: 620
Feature           /change: N -> K
Feature           /domain: STR1
Diagnosis       Robinow syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              ROR2_Q502X(1); standard; MUTATION; STR1
Accession       K00361
Systematic name g.226173C>T, c.1504C>T, r.1504c>u, p.Gln502X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the STR1 domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10932186
RefAuthors      Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., 
RefAuthors      Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., 
RefAuthors      Patton, M. A., Wilkie, A. O., Jeffery, S.
RefTitle        Recessive robinow syndrome, allelic to dominant 
RefTitle        brachydactyly type B, is caused by mutation of ROR2.
RefLoc          Nat Genet 25:419-422 ()
DB CrossRef     OMIM; 602337.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ROR2_DNA: 226173
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M97639; GI:13878706; HSROR2A: 1703
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ROR2_HUMAN: 502
Feature           /change: Q -> X
Feature           /domain: STR1
Diagnosis       Robinow syndrome
Occurrence      Families: 7; Patients: 14; Homozygotes: 14
//
ID              CHEK2_#T367X381(1); standard; MUTATION; PK
Accession       K00362
Systematic name g.49841delC, c.1100delC, r.1100delc, p.Thr367fsX14
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the PK domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            25-Jun-2008 (Rel. 2, Last updated, Version 11)
RefNumber       [1]
RefCrossRef     PUBMED; 10617473
RefAuthors      Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., 
RefAuthors      Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, 
RefAuthors      S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., 
RefAuthors      Li, F. P., Garber, J. E., Haber, D. A.
RefTitle        Heterozygous germ line hCHK2 mutations in li-fraumeni 
RefTitle        syndrome.
RefLoc          Science 286:2528-2531 ()
RefNumber       [2]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 11967536
RefAuthors      Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., 
RefAuthors      Wasielewski, M., de Snoo, A., Oldenburg, R., Hollestelle, 
RefAuthors      A., Houben, M., Crepin, E., van Veghel-Plandsoen, M., 
RefAuthors      Elstrodt, F., van Duijn, C., Bartels, C., Meijers, C., 
RefAuthors      Schutte, M., McGuffog, L., Thompson, D., Easton, D., 
RefAuthors      Sodha, N., Seal, S., Barfoot, R., Mangion, J., Chang-
RefAuthors      Claude, J., Eccles, D., Eeles, R., Evans, D. G., Houlston, 
RefAuthors      R., Murday, V., Narod, S., Peretz, T., Peto, J., Phelan, 
RefAuthors      C., Zhang, H. X., Szabo, C., Devilee, P., Goldgar, D., 
RefAuthors      Futreal, P. A., Nathanson, K. L., Weber, B., Rahman, N., 
RefAuthors      Stratton, M. R.
RefTitle        Low-penetrance susceptibility to breast cancer due to 
RefTitle        CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 
RefTitle        mutations.
RefLoc          Nat Genet 31:55-59 (2002)
RefNumber       [4]
RefCrossRef     PUBMED; 12094328
RefAuthors      Vahteristo, P., Bartkova, J., Eerola, H., Syrjakoski, K., 
RefAuthors      Ojala, S., Kilpivaara, O., Tamminen, A., Kononen, J., 
RefAuthors      Aittomaki, K., Heikkila, P., Holli, K., Blomqvist, C., 
RefAuthors      Bartek, J., Kallioniemi, O. P., Nevanlinna, H.
RefTitle        A CHEK2 genetic variant contributing to a substantial 
RefTitle        fraction of familial breast cancer.
RefLoc          Am J Hum Genet 71:432-438 (2002)
RefNumber       [5]
RefCrossRef     PUBMED; 14612911
RefAuthors      Seppala, E. H., Ikonen, T., Mononen, N., Autio, V., 
RefAuthors      Rokman, A., Matikainen, M. P., Tammela, T. L., Schleutker, 
RefAuthors      J.
RefTitle        CHEK2 variants associate with hereditary prostate cancer.
RefLoc          Br J Cancer 89:1966-1970 (2003)
RefNumber       [6]
RefCrossRef     PUBMED; 14568168
RefAuthors      Lipton, L., Fleischmann, C., Sieber, O. M., Thomas, H. J., 
RefAuthors      Hodgson, S. V., Tomlinson, I. P., Houlston, R. S.
RefTitle        Contribution of the CHEK2 1100delC variant to risk of 
RefTitle        multiple colorectal adenoma and carcinoma.
RefLoc          Cancer Lett 200:149-152 (2003)
RefNumber       [7]
RefCrossRef     PUBMED; 12529183
RefAuthors      Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., 
RefAuthors      Rapaport, B., Gregersen, P., Johnson, S., Yossepowitch, 
RefAuthors      O., Huang, H., Satagopan, J., Robson, M., Scheuer, L., 
RefAuthors      Nafa, K., Ellis, N.
RefTitle        Frequency of CHEK2*1100delC in new york breast cancer 
RefTitle        cases and controls.
RefLoc          BMC Med Genet 4:1 (2003)
RefNumber       [8]
RefCrossRef     PUBMED; 14569133
RefAuthors      Kilpivaara, O., Laiho, P., Aaltonen, L. A., Nevanlinna, H.
RefTitle        CHEK2 1100delC and colorectal cancer.
RefLoc          J Med Genet 40:e110 (2003)
DB CrossRef     OMIM; 604373.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: CHEK2_DNA: 49841
Feature           /change: -c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1136
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 367
Feature           /change: T -> MILGTPRFWE RPLSX
Feature           /domain: PK
Diagnosis       Li-Fraumeni syndrome
Diagnosis       Breast cancer
Diagnosis       Hereditary prostate cancer (HPC)
Diagnosis       Colorectal cancer or risk
Diagnosis       Hereditary prostate cancer (HPC)
Occurrence      Families: 175; Patients: 157; Homozygotes: 0
//
ID              CHEK2_#R474X481(1); standard; MUTATION; PK
Accession       K00363
Systematic name g.51639delT, c.1422delT, r.1422delu, p.Phe475fsX6
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            24-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10617473
RefAuthors      Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., 
RefAuthors      Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, 
RefAuthors      S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., 
RefAuthors      Li, F. P., Garber, J. E., Haber, D. A.
RefTitle        Heterozygous germ line hCHK2 mutations in li-fraumeni 
RefTitle        syndrome.
RefLoc          Science 286:2528-2531 ()
DB CrossRef     OMIM; 604373.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: CHEK2_DNA: 51639
Feature           /change: -t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1458
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 474
Feature           /change: R -> RLRQKKPX
Feature           /domain: PK
Diagnosis       Li-Fraumeni syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT4_G857R(1); standard; MUTATION; PK
Accession       K00364
Systematic name g.30803G>A, c.2569G>A, r.2569g>a, p.Gly857Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10835628
RefAuthors      Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, 
RefAuthors      M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., 
RefAuthors      Finegold, D. N.
RefTitle        Missense mutations interfere with VEGFR-3 signalling in 
RefTitle        primary lymphoedema.
RefLoc          Nat Genet 25:153-159 (2000)
DB CrossRef     OMIM; 136352.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 30803
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2590
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 857
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 5; Homozygotes: 
//
ID              FLT4_R1041P(1); standard; MUTATION; PK
Accession       K00365
Systematic name g.34082G>C, c.3122G>C, r.3122g>c, p.Arg1041Pro
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10835628
RefAuthors      Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, 
RefAuthors      M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., 
RefAuthors      Finegold, D. N.
RefTitle        Missense mutations interfere with VEGFR-3 signalling in 
RefTitle        primary lymphoedema.
RefLoc          Nat Genet 25:153-159 (2000)
DB CrossRef     OMIM; 136352.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34082
Feature           /change: g -> c
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3143
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1041
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 9; Homozygotes: 0
//
ID              FLT4_L1044P(1); standard; MUTATION; PK
Accession       K00366
Systematic name g.34091T>C, c.3131T>C, r.3131u>c, p.Leu1044Pro
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10835628
RefAuthors      Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, 
RefAuthors      M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., 
RefAuthors      Finegold, D. N.
RefTitle        Missense mutations interfere with VEGFR-3 signalling in 
RefTitle        primary lymphoedema.
RefLoc          Nat Genet 25:153-159 (2000)
DB CrossRef     OMIM; 136352.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34091
Feature           /change: t -> c
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3152
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1044
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 16; Homozygotes: 0
//
ID              FLT4_P1114L(1); standard; MUTATION; PK
Accession       K00367
Systematic name g.37445C>T, c.3341C>T, r.3341c>u, p.Pro1114Leu
Description     A point mutation in the exon 25 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 10835628
RefAuthors      Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, 
RefAuthors      M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., 
RefAuthors      Finegold, D. N.
RefTitle        Missense mutations interfere with VEGFR-3 signalling in 
RefTitle        primary lymphoedema.
RefLoc          Nat Genet 25:153-159 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 9817924
RefAuthors      Ferrell, R. E., Levinson, K. L., Esman, J. H., Kimak, M. 
RefAuthors      A., Lawrence, E. C., Barmada, M. M., Finegold, D. N.
RefTitle        Hereditary lymphedema: evidence for linkage and genetic 
RefTitle        heterogeneity.
RefLoc          Hum Mol Genet 7:2073-2078 (1998)
DB CrossRef     OMIM; 136352.0001
DB CrossRef     OMIM; 136352.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 37445
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 25
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3362
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1114
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
ID              FLT4_H1035R(1); standard; MUTATION; PK
Accession       K00368
Systematic name g.34064A>G, c.3104A>G, r.3104a>g, p.His1035Arg
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 10856194
RefAuthors      Irrthum, A., Karkkainen, M. J., Devriendt, K., Alitalo, 
RefAuthors      K., Vikkula, M.
RefTitle        Congenital hereditary lymphedema caused by a mutation that 
RefTitle        inactivates VEGFR3 tyrosine kinase.
RefLoc          Am J Hum Genet 67:295-301 (2000)
DB CrossRef     OMIM; 136352.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34064
Feature           /change: a -> g
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3125
Feature           /codon: cac -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1035
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 5; Homozygotes: 
//
ID              STK11_G135R(1); standard; MUTATION; PK
Accession       K00369
Systematic name g.13439G>C, c.403G>C, r.403g>c, p.Gly135Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10201537
RefAuthors      Rowan, A., Bataille, V., MacKie, R., Healy, E., Bicknell, 
RefAuthors      D., Bodmer, W., Tomlinson, I.
RefTitle        Somatic mutations in the peutz-jeghers (LKB1/STKII) gene 
RefTitle        in sporadic malignant melanomas.
RefLoc          J Invest Dermatol 112:509-511 (1999)
DB CrossRef     OMIM; 602216.0020
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 13439
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 741
Feature           /codon: ggc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 135
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Sporadic malignant melanoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_D194V(1); standard; MUTATION; PK
Accession       K00370
Systematic name g.14576A>T, c.581A>T, r.581a>u, p.Asp194Val
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            29-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10079245
RefAuthors      Avizienyte, E., Loukola, A., Roth, S., Hemminki, A., 
RefAuthors      Tarkkanen, M., Salovaara, R., Arola, J., Butzow, R., 
RefAuthors      Husgafvel-Pursiainen, K., Kokkola, A., Jarvinen, H., 
RefAuthors      Aaltonen, L. A.
RefTitle        LKB1 somatic mutations in sporadic tumors.
RefLoc          Am J Pathol 154:677-681 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14576
Feature           /change: a -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 919
Feature           /codon: gac -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 194
Feature           /change: D -> V
Feature           /domain: PK
Diagnosis       Sporadic malignant melanoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_#H107-2(1); standard; MUTATION; PK
Accession       K00371
Systematic name g.12534delC, c.321delC, r.321delc, p.His107fsX21
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            29-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10353780
RefLoc           : ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 12534
Feature           /change: -c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 659
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 107
Feature           /change: H -> QKMSSSWWMC YTTKRSRKCI WX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_K108R(1); standard; MUTATION; PK
Accession       K00372
Systematic name g.12536A>G, c.323A>G, r.323a>g, p.Lys108Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            29-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10353780
RefLoc           : ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 12536
Feature           /change: a -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 661
Feature           /codon: aaa -> aga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 108
Feature           /change: K -> R
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_E256A(1); standard; MUTATION; PK
Accession       K00373
Systematic name g.15332A>C, c.767A>C, r.767a>c, p.Glu256Ala
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            29-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10780518
RefAuthors      Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. 
RefAuthors      Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., 
RefAuthors      Park, J. G.
RefTitle        Germline mutations of the STK11 gene in korean peutz-
RefTitle        jeghers syndrome patients.
RefLoc          Br J Cancer 82:1403-1406 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15332
Feature           /change: a -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1105
Feature           /codon: gaa -> gca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 256
Feature           /change: E -> A
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_S232P(1); standard; MUTATION; PK
Accession       K00374
Systematic name g.14764T>C, c.694T>C, r.694u>c, p.Ser232Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            29-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10780518
RefAuthors      Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. 
RefAuthors      Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., 
RefAuthors      Park, J. G.
RefTitle        Germline mutations of the STK11 gene in korean peutz-
RefTitle        jeghers syndrome patients.
RefLoc          Br J Cancer 82:1403-1406 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14764
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1032
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 232
Feature           /change: S -> P
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 2; Homozygotes: 
//
ID              STK11_R297K(1); standard; MUTATION; PK
Accession       K00375
Systematic name g.16063G>A, c.890G>A, r.890g>a, p.Arg297Lys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10408777
RefAuthors      Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., 
RefAuthors      de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., 
RefAuthors      Halley, D. J., de Rooij, F. W., Wilson, J. H.
RefTitle        Novel mutations in the LKB1/STK11 gene in dutch peutz-
RefTitle        jeghers families.
RefLoc          Hum Mutat 13:476-481 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 16063
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1228
Feature           /codon: agg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 297
Feature           /change: R -> K
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_D194N(1); standard; MUTATION; PK
Accession       K00376
Systematic name g.14575G>A, c.580G>A, r.580g>a, p.Asp194Asn
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10408777
RefAuthors      Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., 
RefAuthors      de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., 
RefAuthors      Halley, D. J., de Rooij, F. W., Wilson, J. H.
RefTitle        Novel mutations in the LKB1/STK11 gene in dutch peutz-
RefTitle        jeghers families.
RefLoc          Hum Mutat 13:476-481 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
RefNumber       [9]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [5]
RefCrossRef     PUBMED; 17026623
RefAuthors      Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., 
RefAuthors      Spigelman, A. D., Scott, R. J.
RefTitle        An updated mutation spectrum in an Australian series of 
RefTitle        PJS patients provides further evidence for only one gene 
RefTitle        locus.
RefLoc          Clin Genet 70:409-14
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14575
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 918
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 194
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 4; Patients: 7; Homozygotes: 0
//
ID              STK11_@D53X162(1); standard; MUTATION; PK
Accession       K00377
Systematic name g.1157dupG, c.157dupG, r.157dupg, p.Asp53fsX109
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9934767
RefAuthors      Trojan, J., Brieger, A., Raedle, J., Roth, W. K., Zeuzem, 
RefAuthors      S.
RefTitle        Peutz-jeghers syndrome: molecular analysis of a three-
RefTitle        generation kindred with a novel defect in the serine 
RefTitle        threonine kinase gene STK11.
RefLoc          Am J Gastroenterol 94:257-261 (1999)
RefNumber       [9]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [6]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 1158
Feature           /change: +g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 496
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 53
Feature           /change: D -> 
Feature           /change: GPAGGRLLRQ GEGGAGLGDA VQEGRQDPQE EEVAKDPQRG
Feature           /change: GQREEGNSTT EEVTAQKCHP AGGCVIQRRE AENVYGDGVL
Feature           /change: RVWHAGNAGQ RAGEAFPSVP GPRVLLSADX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 3; Patients: 7; Homozygotes: 0
//
ID              ACVRL1_S333I(1); standard; MUTATION; PK
Accession       K00378
Systematic name g.3976G>T, c.998G>T, r.998g>u, p.Ser333Ile
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9245985
RefAuthors      Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. 
RefAuthors      W., Allen, W. P., Schwartz, C. E., Jackson, C. E., 
RefAuthors      Porteous, M. E., Marchuk, D. A.
RefTitle        The activin receptor-like kinase 1 gene: genomic structure 
RefTitle        and mutations in hereditary hemorrhagic telangiectasia 
RefTitle        type 2.
RefLoc          Am J Hum Genet 61:60-67 (1997)
RefNumber       [3]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3976
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1280
Feature           /codon: agc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 333
Feature           /change: S -> I
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_C308X(1); standard; MUTATION; PK
Accession       K00379
Systematic name g.3902C>A, c.924C>A, r.924c>a, p.Cys308X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9245985
RefAuthors      Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. 
RefAuthors      W., Allen, W. P., Schwartz, C. E., Jackson, C. E., 
RefAuthors      Porteous, M. E., Marchuk, D. A.
RefTitle        The activin receptor-like kinase 1 gene: genomic structure 
RefTitle        and mutations in hereditary hemorrhagic telangiectasia 
RefTitle        type 2.
RefLoc          Am J Hum Genet 61:60-67 (1997)
RefNumber       [3]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
RefNumber       [6]
RefCrossRef     PUBMED; 16123970
RefAuthors      Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, 
RefAuthors      S., Neuhaus, P., Nayernia, K., Engel, W.
RefTitle        ALK-1 mutations in liver transplanted patients with 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Liver Transpl 11:1132-5
RefNumber       [8]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3902
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1206
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 308
Feature           /change: C -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
//
ID              ACVRL1_@L289X391(1); standard; MUTATION; PK
Accession       K00380
Systematic name g.3842dupT, c.864dupT, r.864dupu, p.Leu289fsX102
Description     A frame shift duplication mutation in the exon 6 leading to
Description     a premature stop codon in the PK domain
Date            29-Sep-2003 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 2)

RefNumber       [1]
RefCrossRef     PUBMED; 9245985
RefAuthors      Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. 
RefAuthors      W., Allen, W. P., Schwartz, C. E., Jackson, C. E., 
RefAuthors      Porteous, M. E., Marchuk, D. A.
RefTitle        The activin receptor-like kinase 1 gene: genomic structure 
RefTitle        and mutations in hereditary hemorrhagic telangiectasia 
RefTitle        type 2.
RefLoc          Am J Hum Genet 61:60-67 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3843
Feature           /change: +t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1147
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 289
Feature           /change: L -> 
Feature           /change: SAETDAGAPS GSEASCVRGM RPGAPARGDL RYTGQTSHCP
Feature           /change: PRLQEPQCAG QEQPAVLHRR PGPGCDALTG QRLPGHRQQP
Feature           /change: ESGHQAVHGT RGAGRADPHG LLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              JAK3_V722I(1); standard; MUTATION; PK1
Accession       K00381
Systematic name g.14105G>A, c.2164G>A, r.2164g>a, p.Val722Ile
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982185 
RefAuthors      Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., 
RefAuthors      Savoldi, G., Giliani, S., Villa, A., Candotti, F., 
RefAuthors      Tampalini, A., O'Shea, J. J., Notarangelo, L. D.
RefTitle        Complete genomic organization of the human JAK3 gene and 
RefTitle        mutation analysis in severe combined immunodeficiency by 
RefTitle        single-strand conformation polymorphism
RefLoc          Hum. Genet. 106:73-79(2000)
RefNumber       [2]
RefCrossRef     PUBMED; 10900158 
RefAuthors      Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., 
RefAuthors      Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, 
RefAuthors      L. D.
RefTitle        Molecular modeling of the Jak3 kinase domains and 
RefTitle        structural basis for severe combined immunodeficiency
RefLoc          Clin. Immunol. 96:108-118(2000)
RefNumber       [3]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     JAK3base; J0012
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14105
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2259
Feature           /codon: gtc -> atc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 722
Feature           /change: V -> I
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Allele 1; Sterical clash in core ref [2]
//
ID              JAK3_C565X(1); standard; MUTATION; PK1
Accession       K00382
Systematic name g.11054C>A, c.1695C>A, r.1695c>a, p.Cys565X
Description     A point mutation in the exon 12 leading to a premature stop
Description     codon in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7481768 
RefAuthors      Russell, S. M., Tayebi, N., Nakajima, H., Riedy, M. C.,
RefAuthors      Roberts, J. L., Aman, M. A., Migone, T.-S., Noguchi, M.,
RefAuthors      Markert, M. L., Buckley, R. H., O'Shea, J. J., 
RefAuthors      Leonard, W. J.
RefTitle        Mutation of Jak3 in a patient with SCID: Essential role of
RefTitle        Jak3 in lymphoid development
RefLoc          Science 270:797-800 (1995)
RefNumber       [2]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     OMIM; 600173.0003
DB CrossRef     OMIM; 600173.0004
DB CrossRef     JAK3base; J0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 11054
Feature           /change: c -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 1790
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 565
Feature           /change: C -> X
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              JAK3_R651W(1); standard; MUTATION; PK1
Accession       K00383
Systematic name g.13813C>T, c.1951C>T, r.1951c>u, p.Arg651Trp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
RefNumber       [2]
RefCrossRef     PUBMED; 11668624
RefAuthors      Feldser, D. M., Kern, S. E.
RefTitle        Oncogenic levels of mitogen-activated protein 
RefTitle        kinase (MAPK) signaling of the dinucleotide KRAS2 
RefTitle        mutations G12F and GG12-13VC.
RefLoc          Hum Mutat 18:357 (2001)
DB CrossRef     JAK3base; J0018
DB CrossRef     JAK3base; J0021
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 13813
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2046
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 651
Feature           /change: R -> W
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       
Occurrence      Families: 4; Patients: 4; Homozygotes: 2
Comment         -!-In one patient is in trans with E694K
//
ID              JAK3_E694K(1); standard; MUTATION; PK1
Accession       K00384
Systematic name g.14021G>A, c.2080G>A, r.2080g>a, p.Glu694Lys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11668624
RefAuthors      Feldser, D. M., Kern, S. E.
RefTitle        Oncogenic levels of mitogen-activated protein 
RefTitle        kinase (MAPK) signaling of the dinucleotide KRAS2 
RefTitle        mutations G12F and GG12-13VC.
RefLoc          Hum Mutat 18:357 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14021
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2175
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 694
Feature           /change: E -> K
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-In one patient is in trans with R651W
//
ID              JAK3_P689S(1); standard; MUTATION; PK1
Accession       K00386
Systematic name g.14006C>T, c.2065C>T, r.2065c>u, p.Pro689Ser
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
RefNumber       [2]
RefCrossRef     PUBMED; 11668624
RefAuthors      Feldser, D. M., Kern, S. E.
RefTitle        Oncogenic levels of mitogen-activated protein 
RefTitle        kinase (MAPK) signaling of the dinucleotide KRAS2 
RefTitle        mutations G12F and GG12-13VC.
RefLoc          Hum Mutat 18:357 (2001)
DB CrossRef     JAK3base; J0017
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14006
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2160
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 689
Feature           /change: P -> S
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 2
//
ID              JAK3_Q766X(1); standard; MUTATION; PK1
Accession       K00387
Systematic name g.14367C>T, c.2296C>T, r.2296c>u, p.Gln766X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
RefNumber       [2]
RefCrossRef     PUBMED; 11668624
RefAuthors      Feldser, D. M., Kern, S. E.
RefTitle        Oncogenic levels of mitogen-activated protein 
RefTitle        kinase (MAPK) signaling of the dinucleotide KRAS2 
RefTitle        mutations G12F and GG12-13VC.
RefLoc          Hum Mutat 18:357 (2001)
DB CrossRef     JAK3base; J0019
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14367
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2391
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 766
Feature           /change: Q -> X
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 2
//
ID              JAK3_C759R(1); standard; MUTATION; PK1
Accession       K00388
Systematic name g.14346T>C, c.2275T>C, r.2275u>c, p.Cys759Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9354668 
RefAuthors      Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S.,
RefAuthors      Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., 
RefAuthors      Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P.,
RefAuthors      Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J.,
RefAuthors      Villa, A.
RefTitle        Structural and functional basis for JAK3-deficient severe
RefTitle        combined immunodeficiency
RefLoc          Blood 90:3996-4003 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 10419614 
RefAuthors      Schumacher, R. F., Mella, P., Lalatta, F., Fiorini, M., 
RefAuthors      Giliani, S., Villa, A., Candotti, F., Notarangelo, L. D.
RefTitle        Prenatal diagnosis of JAK3 deficient SCID
RefLoc          Prenat. Diagn. 19:653-656(1999)
RefNumber       [3]
RefCrossRef     PUBMED; 10629052 
RefAuthors      Chen, M., Cheng, A., Candotti, F., Zhou, Y. J., Hymel, A.,
RefAuthors      Fasth, A., Notarangelo, L. D., O'Shea, J. J.
RefTitle        Complex effects of naturally occurring mutations in the 
RefTitle        JAK3 pseudokinase domain: evidence for interactions 
RefTitle        between the kinase and pseudokinase domains
RefLoc          Mol. Cell. Biol. 20:947-956(2000)
RefNumber       [4]
RefCrossRef     PUBMED; 10982185 
RefAuthors      Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., 
RefAuthors      Savoldi, G., Giliani, S., Villa, A., Candotti, F., 
RefAuthors      Tampalini, A., O'Shea, J. J., Notarangelo, L. D.
RefTitle        Complete genomic organization of the human JAK3 gene and 
RefTitle        mutation analysis in severe combined immunodeficiency by 
RefTitle        single-strand conformation polymorphism
RefLoc          Hum. Genet. 106:73-79(2000)
RefNumber       [5]
RefCrossRef     PUBMED; 10900158 
RefAuthors      Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., 
RefAuthors      Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, 
RefAuthors      L. D.
RefTitle        Molecular modeling of the Jak3 kinase domains and 
RefTitle        structural basis for severe combined immunodeficiency
RefLoc          Clin. Immunol. 96:108-118(2000)
RefNumber       [6]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     JAK3base; J0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14346
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2370
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 759
Feature           /change: C -> R
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Allele 2; Sterical clash ref [5]
//
ID              JAK3_G589V(1); standard; MUTATION; PK1
Accession       K00391
Systematic name g.11843C>T, c.1766C>T, r.1766c>u, p.Gly589Val
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9354668 
RefAuthors      Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S.,
RefAuthors      Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., 
RefAuthors      Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P.,
RefAuthors      Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J.,
RefAuthors      Villa, A.
RefTitle        Structural and functional basis for JAK3-deficient severe
RefTitle        combined immunodeficiency
RefLoc          Blood 90:3996-4003 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 10629052 
RefAuthors      Chen, M., Cheng, A., Candotti, F., Zhou, Y. J., Hymel, A.,
RefAuthors      Fasth, A., Notarangelo, L. D., O'Shea, J. J.
RefTitle        Complex effects of naturally occurring mutations in the 
RefTitle        JAK3 pseudokinase domain: evidence for interactions 
RefTitle        between the kinase and pseudokinase domains
RefLoc          Mol. Cell. Biol. 20:947-956(2000)
RefNumber       [3]
RefCrossRef     PUBMED; 10982185 
RefAuthors      Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., 
RefAuthors      Savoldi, G., Giliani, S., Villa, A., Candotti, F., 
RefAuthors      Tampalini, A., O'Shea, J. J., Notarangelo, L. D.
RefTitle        Complete genomic organization of the human JAK3 gene and 
RefTitle        mutation analysis in severe combined immunodeficiency by 
RefTitle        single-strand conformation polymorphism
RefLoc          Hum. Genet. 106:73-79(2000)
RefNumber       [4]
RefCrossRef     PUBMED; 10900158 
RefAuthors      Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., 
RefAuthors      Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, 
RefAuthors      L. D.
RefTitle        Molecular modeling of the Jak3 kinase domains and 
RefTitle        structural basis for severe combined immunodeficiency
RefLoc          Clin. Immunol. 96:108-118(2000)
RefNumber       [5]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     JAK3base; J0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 11843
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 1861
Feature           /codon: ggc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 589
Feature           /change: G -> V
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
Protein struct  Allele 1 and 2; Fold alteration ref [4]
//
ID              JAK3_R582W(1); standard; MUTATION; PK1
Accession       K00392
Systematic name g.11821C>T, c.1744C>T, r.1744c>u, p.Arg582Trp
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 785357 
RefAuthors      Geha, R. S., Malakian, A., LeFranc, G., Chayban, D., 
RefAuthors      Serre, J. L.
RefTitle        Immunologic reconstitution in severe combined 
RefTitle        immunodeficiency following transplantation with parental 
RefTitle        bone marrow
RefLoc          Pediatrics 58:451-455(1976)
RefNumber       [2]
RefCrossRef     PUBMED; 9753072 
RefAuthors      Bozzi, F., Lefranc, G., Villa, A., Badolato, R., 
RefAuthors      Schumacher, R. F., Khalil, G., Loislet, J., Bresciani,
RefAuthors      S., O'Shea, J. J., Vezzoni, P., Notarangelo, L. D., 
RefAuthors      Candotti, F.
RefTitle        Molecular and biochemical characterization of JAK3
RefTitle        deficiency in a patient with severe combined
RefTitle        immunodeficiency over 20 years after bone marrow
RefTitle        transplantation: implications for treatment
RefLoc          Br. J. Haematol 102: 1363-6 (1998)
RefNumber       [3]
RefCrossRef     PUBMED; 10982185 
RefAuthors      Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., 
RefAuthors      Savoldi, G., Giliani, S., Villa, A., Candotti, F., 
RefAuthors      Tampalini, A., O'Shea, J. J., Notarangelo, L. D.
RefTitle        Complete genomic organization of the human JAK3 gene and 
RefTitle        mutation analysis in severe combined immunodeficiency by 
RefTitle        single-strand conformation polymorphism
RefLoc          Hum. Genet. 106:73-79(2000)
RefNumber       [4]
RefCrossRef     PUBMED; 10900158 
RefAuthors      Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., 
RefAuthors      Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, 
RefAuthors      L. D.
RefTitle        Molecular modeling of the Jak3 kinase domains and 
RefTitle        structural basis for severe combined immunodeficiency
RefLoc          Clin. Immunol. 96:108-118(2000)
RefNumber       [5]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     JAK3base; J0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 11821
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 1839
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 582
Feature           /change: R -> W
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Allele 1 and 2; Altered ligand interaction ref [3]
//
ID              JAK3_R771X(1); standard; MUTATION; PK1
Accession       K00394
Systematic name g.14382C>T, c.2311C>T, r.2311c>u, p.Arg771X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK1 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
RefNumber       [2]
RefCrossRef     PUBMED; 11668624
RefAuthors      Feldser, D. M., Kern, S. E.
RefTitle        Oncogenic levels of mitogen-activated protein 
RefTitle        kinase (MAPK) signaling of the dinucleotide KRAS2 
RefTitle        mutations G12F and GG12-13VC.
RefLoc          Hum Mutat 18:357 (2001)
DB CrossRef     JAK3base; J0022
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14382
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2406
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 771
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       T-B+ severe combined immunodeficiency
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 2
//
ID              JAK3dom2_#C1024X1037(1); standard; MUTATION; PK2
Accession       K00395
Systematic name g.18465delC, c.3072delC, r.3072delc, p.Cys1024fsX13
Description     A frame shift deletion mutation in the exon 22 leading to a
Description     premature stop codon in the PK2 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10900158 
RefAuthors      Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., 
RefAuthors      Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, 
RefAuthors      L. D.
RefTitle        Molecular modeling of the Jak3 kinase domains and 
RefTitle        structural basis for severe combined immunodeficiency
RefLoc          Clin. Immunol. 96:108-118(2000)
RefNumber       [2]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     JAK3base; J0016
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: JAK3_DNA: 18465
Feature           /change: -c
Feature           /genomic_region: exon; 22
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U09607; GI:1177044; U09607: 3167
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 1024
Feature           /change: C -> WTKAAAPRPS SCGX
Feature           /domain: PK2
Diagnosis       T-B+ severe combined immunodeficiency; mild phenotype
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Allele 2; Truncation ref [1]
//
ID              JAK3dom2_L910S(1); standard; MUTATION; PK2
Accession       K00398
Systematic name g.17242T>C, c.2729T>C, r.2729u>c, p.Leu910Ser
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK2 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982185 
RefAuthors      Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., 
RefAuthors      Savoldi, G., Giliani, S., Villa, A., Candotti, F., 
RefAuthors      Tampalini, A., O'Shea, J. J., Notarangelo, L. D.
RefTitle        Complete genomic organization of the human JAK3 gene and 
RefTitle        mutation analysis in severe combined immunodeficiency by 
RefTitle        single-strand conformation polymorphism
RefLoc          Hum. Genet. 106:73-79(2000)
RefNumber       [2]
RefCrossRef     PUBMED; 10900158 
RefAuthors      Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., 
RefAuthors      Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, 
RefAuthors      L. D.
RefTitle        Molecular modeling of the Jak3 kinase domains and 
RefTitle        structural basis for severe combined immunodeficiency
RefLoc          Clin. Immunol. 96:108-118(2000)
RefNumber       [3]
RefAuthors      Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, 
RefAuthors      G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. 
RefAuthors      F.
RefTitle        Mutations in severe combined immune deficiency due to JAK3
RefTitle        deficiency
DB CrossRef     JAK3base; J0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 17242
Feature           /change: t -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U09607; GI:1177044; U09607: 2824
Feature           /codon: ttg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 910
Feature           /change: L -> S
Feature           /domain: PK2
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  Allele 2; Truncation ref [2]
//
ID              JAK3dom2_Y1023X(1); standard; MUTATION; PK2
Accession       K00399
Systematic name g.18462C>A, c.3069C>A, r.3069c>a, p.Tyr1023X
Description     A point mutation in the exon 22 leading to a premature stop
Description     codon in the PK2 domain
Date            30-Sep-2003 (Rel. 2, Created)
Date            30-Sep-2003 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 18462
Feature           /change: c -> a
Feature           /genomic_region: exon; 22
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U09607; GI:1177044; U09607: 3164
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 1023
Feature           /change: Y -> X
Feature           /domain: PK2
Diagnosis       T-B+ severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_L74F(1); standard; MUTATION; PK1
Accession       K00400
Systematic name g.58792A>C, c.222A>C, r.222a>c, p.Leu74Phe
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58792
Feature           /change: a -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 222
Feature           /codon: tta -> ttc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 74
Feature           /change: L -> F
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_G80R(1); standard; MUTATION; PK1
Accession       K00401
Systematic name g.58808G>A, c.238G>A, r.238g>a, p.Gly80Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58808
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 238
Feature           /codon: gga -> aga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 80
Feature           /change: G -> R
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_R114W(1); standard; MUTATION; PK1
Accession       K00402
Systematic name g.72970C>T, c.340C>T, r.340c>u, p.Arg114Trp
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10094187
RefAuthors      Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., 
RefAuthors      Hanauer, A., Schwartz, C. E.
RefTitle        Novel mutations in rsk-2, the gene for coffin-lowry 
RefTitle        syndrome (CLS).
RefLoc          Eur J Hum Genet 7:20-26 (1999)
DB CrossRef     OMIM; 300075.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72970
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 340
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 114
Feature           /change: R -> W
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              RPS6KA3_R119P(1); standard; MUTATION; PK1
Accession       K00403
Systematic name g.72986G>C, c.356G>C, r.356g>c, p.Arg119Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72986
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 356
Feature           /codon: cgt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 119
Feature           /change: R -> P
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_I189K(1); standard; MUTATION; PK1
Accession       K00404
Systematic name g.74587T>A, c.566T>A, r.566u>a, p.Ile189Lys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10528858
RefAuthors      Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., 
RefAuthors      Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., 
RefAuthors      Croquette, M. F., Hanauer, A.
RefTitle        Unreported RSK2 missense mutation in two male sibs with an 
RefTitle        unusually mild form of coffin-lowry syndrome.
RefLoc          J Med Genet 36:775-778 (1999)
DB CrossRef     OMIM; 300075.0011
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 74587
Feature           /change: t -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 566
Feature           /codon: ata -> aaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 189
Feature           /change: I -> K
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_D193N(1); standard; MUTATION; PK1
Accession       K00405
Systematic name g.74598G>A, c.577G>A, r.577g>a, p.Asp193Asn
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 74598
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 577
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 193
Feature           /change: D -> N
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_T231I(1); standard; MUTATION; PK1
Accession       K00406
Systematic name g.80191C>T, c.692C>T, r.692c>u, p.Thr231Ile
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9832033
RefAuthors      Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., 
RefAuthors      Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, 
RefAuthors      W., Hanauer, A.
RefTitle        Rapid immunoblot and kinase assay tests for a syndromal 
RefTitle        form of X linked mental retardation: coffin-lowry 
RefTitle        syndrome.
RefLoc          J Med Genet 35:890-894 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80191
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 692
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 231
Feature           /change: T -> I
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_E69X(1); standard; MUTATION; PK1
Accession       K00407
Systematic name g.58775G>T, c.205G>T, r.205g>u, p.Glu69X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58775
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 205
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 69
Feature           /change: E -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_Q269X(1); standard; MUTATION; PK1
Accession       K00408
Systematic name g.81765C>T, c.805C>T, r.805c>u, p.Gln269X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81765
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 805
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 269
Feature           /change: Q -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_R243X(1); standard; MUTATION; PK1
Accession       K00409
Systematic name g.80226C>T, c.727C>T, r.727c>u, p.Arg243X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80226
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 727
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 243
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3_L311X(1); standard; MUTATION; PK1
Accession       K00410
Systematic name g.91103T>A, c.932T>A, r.932u>a, p.Leu311X
Description     A point mutation in the exon 11 leading to a premature stop
Description     codon in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9832033
RefAuthors      Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., 
RefAuthors      Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, 
RefAuthors      W., Hanauer, A.
RefTitle        Rapid immunoblot and kinase assay tests for a syndromal 
RefTitle        form of X linked mental retardation: coffin-lowry 
RefTitle        syndrome.
RefLoc          J Med Genet 35:890-894 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91103
Feature           /change: t -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 932
Feature           /codon: tta -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 311
Feature           /change: L -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_K451N(1); standard; MUTATION; PK2
Accession       K00411
Systematic name g.95355G>C, c.1353G>C, r.1353g>c, p.Lys451Asn
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95355
Feature           /change: g -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1353
Feature           /codon: aag -> aac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 451
Feature           /change: K -> N
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_L467R(1); standard; MUTATION; PK2
Accession       K00412
Systematic name g.98656T>G, c.1400T>G, r.1400u>g, p.Leu467Arg
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98656
Feature           /change: t -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1400
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 467
Feature           /change: L -> R
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_N475D(1); standard; MUTATION; PK2
Accession       K00413
Systematic name g.98679A>G, c.1423A>G, r.1423a>g, p.Asn475Asp
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98679
Feature           /change: a -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1423
Feature           /codon: aac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 475
Feature           /change: N -> D
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_V492G(1); standard; MUTATION; PK2
Accession       K00414
Systematic name g.100385T>G, c.1475T>G, r.1475u>g, p.Val492Gly
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100385
Feature           /change: t -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1475
Feature           /codon: gta -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 492
Feature           /change: V -> G
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 2; Homozygotes: 
//
ID              RPS6KA3dom2_M496R(1); standard; MUTATION; PK2
Accession       K00415
Systematic name g.100397T>G, c.1487T>G, r.1487u>g, p.Met496Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100397
Feature           /change: t -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1487
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 496
Feature           /change: M -> R
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_H537L(1); standard; MUTATION; PK2
Accession       K00416
Systematic name g.103048A>T, c.1610A>T, r.1610a>u, p.His537Leu
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103048
Feature           /change: a -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1610
Feature           /codon: cat -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 537
Feature           /change: H -> L
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_N544K(1); standard; MUTATION; PK2
Accession       K00417
Systematic name g.103070C>A, c.1632C>A, r.1632c>a, p.Asn544Lys
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103070
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1632
Feature           /codon: aac -> aaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 544
Feature           /change: N -> K
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_P587S(1); standard; MUTATION; PK2
Accession       K00418
Systematic name g.103197C>T, c.1759C>T, r.1759c>u, p.Pro587Ser
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103197
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1759
Feature           /codon: cca -> tca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 587
Feature           /change: P -> S
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 2; Homozygotes: 
//
ID              RPS6KA3dom2_N620D(1); standard; MUTATION; PK2
Accession       K00419
Systematic name g.106356A>G, c.1858A>G, r.1858a>g, p.Asn620Asp
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 106356
Feature           /change: a -> g
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1858
Feature           /codon: aat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 620
Feature           /change: N -> D
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 2; Homozygotes: 
//
ID              RPS6KA3dom2_Q567X(1); standard; MUTATION; PK2
Accession       K00420
Systematic name g.103137C>T, c.1699C>T, r.1699c>u, p.Gln567X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the PK2 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11180593
RefAuthors      Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., 
RefAuthors      Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the X-linked RSK2 gene (RPS6KA3) in patients 
RefTitle        with coffin-lowry syndrome.
RefLoc          Hum Mutat 17:103-116 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103137
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1699
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 567
Feature           /change: Q -> X
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RPS6KA3dom2_R273X(1); standard; MUTATION; PK1
Accession       K00421
Systematic name g.81777C>T, c.817C>T, r.817c>u, p.Arg273X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK1 domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837815
RefAuthors      Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., 
RefAuthors      Mandel, J. L., Sassone-Corsi, P., Hanauer, A.
RefTitle        Mutation analysis of the RSK2 gene in coffin-lowry 
RefTitle        patients: extensive allelic heterogeneity and a high rate 
RefTitle        of de novo mutations.
RefLoc          Am J Hum Genet 63:1631-1640 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81777
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 817
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 273
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              TEK_Y897S(1); standard; MUTATION; PK
Accession       K00422
Systematic name g.55887A>C, c.2690A>C, r.2690a>c, p.Tyr897Ser
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10369874
RefAuthors      Calvert, J. T., Riney, T. J., Kontos, C. D., Cha, E. H., 
RefAuthors      Prieto, V. G., Shea, C. R., Berg, J. N., Nevin, N. C., 
RefAuthors      Simpson, S. A., Pasyk, K. A., Speer, M. C., Peters, K. G., 
RefAuthors      Marchuk, D. A.
RefTitle        Allelic and locus heterogeneity in inherited venous 
RefTitle        malformations.
RefLoc          Hum Mol Genet 8:1279-1289 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
RefNumber       [3]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
DB CrossRef     OMIM; 600221.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55887
Feature           /change: a -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838
Feature           /codon: tac -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 897
Feature           /change: Y -> S
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Diagnosis       
Occurrence      Families: 3; Patients: 8; Homozygotes: 0
//
ID              NTRK1_G516R(1); standard; MUTATION; PK
Accession       K00423
Systematic name g.16208G>A, c.1546G>A, r.1546g>a, p.Gly516Arg
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982191
RefAuthors      Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., 
RefAuthors      Matsuda, I., Indo, Y.
RefTitle        Mutation and polymorphism analysis of the TRKA (NTRK1) 
RefTitle        gene encoding a high-affinity receptor for nerve growth 
RefTitle        factor in congenital insensitivity to pain with 
RefTitle        anhidrosis (CIPA) families.
RefLoc          Hum Genet 106:116-124 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16208
Feature           /change: g -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1666
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 516
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              NTRK1_R596X(1); standard; MUTATION; PK
Accession       K00424
Systematic name g.16637C>T, c.1786C>T, r.1786c>u, p.Arg596X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982191
RefAuthors      Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., 
RefAuthors      Matsuda, I., Indo, Y.
RefTitle        Mutation and polymorphism analysis of the TRKA (NTRK1) 
RefTitle        gene encoding a high-affinity receptor for nerve growth 
RefTitle        factor in congenital insensitivity to pain with 
RefTitle        anhidrosis (CIPA) families.
RefLoc          Hum Genet 106:116-124 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16637
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1906
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 596
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 
//
ID              NTRK1_R648C(1); standard; MUTATION; PK
Accession       K00425
Systematic name g.19342C>T, c.1942C>T, r.1942c>u, p.Arg648Cys
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982191
RefAuthors      Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., 
RefAuthors      Matsuda, I., Indo, Y.
RefTitle        Mutation and polymorphism analysis of the TRKA (NTRK1) 
RefTitle        gene encoding a high-affinity receptor for nerve growth 
RefTitle        factor in congenital insensitivity to pain with 
RefTitle        anhidrosis (CIPA) families.
RefLoc          Hum Genet 106:116-124 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 19342
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2062
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 648
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 
//
ID              NTRK1_D668Y(1); standard; MUTATION; PK
Accession       K00426
Systematic name g.19402G>T, c.2002G>T, r.2002g>u, p.Asp668Tyr
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982191
RefAuthors      Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., 
RefAuthors      Matsuda, I., Indo, Y.
RefTitle        Mutation and polymorphism analysis of the TRKA (NTRK1) 
RefTitle        gene encoding a high-affinity receptor for nerve growth 
RefTitle        factor in congenital insensitivity to pain with 
RefTitle        anhidrosis (CIPA) families.
RefLoc          Hum Genet 106:116-124 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 19402
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2122
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 668
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 4; Patients: 4; Homozygotes: 
//
ID              NTRK1_@R771X860(1); standard; MUTATION; PK
Accession       K00427
Systematic name g.21645dupT, c.2310dupT, r.2310dupu, p.Arg771fsX89
Description     A frame shift duplication mutation in the exon 16 leading
Description     to a premature stop codon in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            02-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10982191
RefAuthors      Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., 
RefAuthors      Matsuda, I., Indo, Y.
RefTitle        Mutation and polymorphism analysis of the TRKA (NTRK1) 
RefTitle        gene encoding a high-affinity receptor for nerve growth 
RefTitle        factor in congenital insensitivity to pain with 
RefTitle        anhidrosis (CIPA) families.
RefLoc          Hum Genet 106:116-124 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: NTRK1_DNA: 21646
Feature           /change: +t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2431
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 771
Feature           /change: V -> 
Feature           /change: CARPAASPGP GTSCLPGCPG LGGRPRGWEW LAGILGPALS
Feature           /change: IPHSSQQPQG DLEVSNSPSA CGKGQVGAGS RGCSCFSRQG
Feature           /change: PVIAIIFIIP
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              NTRK1_R774P(1); standard; MUTATION; PK
Accession       K00428
Systematic name g.21656G>C, c.2321G>C, r.2321g>c, p.Arg774Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10090906
RefAuthors      Greco, A., Villa, R., Tubino, B., Romano, L., Penso, D., 
RefAuthors      Pierotti, M. A.
RefTitle        A novel NTRK1 mutation associated with congenital 
RefTitle        insensitivity to pain with anhidrosis.
RefLoc          Am J Hum Genet 64:1207-1210 (1999)
DB CrossRef     OMIM; 191315.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 21656
Feature           /change: g -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2441
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 774
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 7; Homozygotes: 1
//
ID              NTRK1_P689L(1); standard; MUTATION; PK
Accession       K00429
Systematic name g.20102C>T, c.2066C>T, r.2066c>u, p.Pro689Leu
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10861667
RefAuthors      Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, 
RefAuthors      E., Herzog, L., Shorer, Z., Luder, A., Parvari, R.
RefTitle        Congenital insensitivity to pain with anhidrosis (CIPA) in 
RefTitle        israeli-bedouins: genetic heterogeneity, novel mutations 
RefTitle        in the TRKA/NGF receptor gene, clinical findings, and 
RefTitle        results of nerve conduction studies.
RefLoc          Am J Med Genet 92:353-360 (2000)
DB CrossRef     OMIM; 191315.0011
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 20102
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2186
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 689
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 3; Homozygotes: 
//
ID              NTRK1_@E615X626(1); standard; MUTATION; PK
Accession       K00430
Systematic name g.19242_19243insT, c.1842_1843insT, r.1842_1843insu,
Systematic name p.Glu615fsX11
Description     A frame shift insertion mutation in the exon 14 leading to
Description     a premature stop codon in the PK domain
Date            02-Oct-2003 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10861667
RefAuthors      Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, 
RefAuthors      E., Herzog, L., Shorer, Z., Luder, A., Parvari, R.
RefTitle        Congenital insensitivity to pain with anhidrosis (CIPA) in 
RefTitle        israeli-bedouins: genetic heterogeneity, novel mutations 
RefTitle        in the TRKA/NGF receptor gene, clinical findings, and 
RefTitle        results of nerve conduction studies.
RefLoc          Am J Med Genet 92:353-360 (2000)
DB CrossRef     OMIM; 191315.0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: NTRK1_DNA: 19243
Feature           /change: +t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1963
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 615
Feature           /change: P -> SPGSGAAAGR GX
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 10; Patients: 10; Homozygotes: 10
//
ID              IRAK4_Q293X(1); standard; MUTATION; PK
Accession       K00431
Systematic name g.21175C>T, c.877C>T, r.877c>u, p.Gln293X
Description     A point mutation in the exon 8 leading to a premature stop
Description     codon in the PK domain
Date            08-Oct-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 12637671
RefAuthors      Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, 
RefAuthors      J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J., 
RefAuthors      Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies, 
RefAuthors      G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al-
RefAuthors      Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R., 
RefAuthors      Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S., 
RefAuthors      Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A., 
RefAuthors      Ozinsky, A., Casanova, J. L.
RefTitle        Pyogenic bacterial infections in humans with IRAK-4 
RefTitle        deficiency.
RefLoc          Science 299:2076-2079 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 12925671
RefAuthors      Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J. 
RefAuthors      C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I., 
RefAuthors      Vogel, S. N.
RefTitle        Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to 
RefTitle        lipopolysaccharide and interleukin-1 in a patient with 
RefTitle        recurrent bacterial infections.
RefLoc          J Exp Med 198:521-531 (2003)
DB CrossRef     IRAK4base; I0002
DB CrossRef     IRAK4base; I0003
DB CrossRef     OMIM; 606883.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AY186092: 21175
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF155118; GI:5360130; AF155118: 926
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q8TDF7: 293
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       IRAK4 deficiency
Occurrence      Families: 4; Patients: 4; Homozygotes: 2
//
ID              IRAK4_#L274X287(1); standard; MUTATION; PK
Accession       K00432
Systematic name g.20671delT, c.821delT, r.821delu, p.Leu274fsX13
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            08-Oct-2003 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 12637671
RefAuthors      Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, 
RefAuthors      J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J., 
RefAuthors      Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies, 
RefAuthors      G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al-
RefAuthors      Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R., 
RefAuthors      Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S., 
RefAuthors      Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A., 
RefAuthors      Ozinsky, A., Casanova, J. L.
RefTitle        Pyogenic bacterial infections in humans with IRAK-4 
RefTitle        deficiency.
RefLoc          Science 299:2076-2079 (2003)
DB CrossRef     IRAK4base; I0001
DB CrossRef     OMIM; 606883.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AY186092: 20671
Feature           /change: -t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF155118; GI:5360130; AF155118: 870
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q8TDF7: 274
Feature           /change: L -> PLAWMVLHHF LGTX
Feature           /domain: PK
Diagnosis       IRAK4 deficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              IRAK4_#N207X219(1); standard; MUTATION; PK
Accession       K00433
Systematic name g.15978delA, c.620delA, r.620dela, p.Asn207fsX5
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            08-Oct-2003 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 12925671
RefAuthors      Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J. 
RefAuthors      C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I., 
RefAuthors      Vogel, S. N.
RefTitle        Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to 
RefTitle        lipopolysaccharide and interleukin-1 in a patient with 
RefTitle        recurrent bacterial infections.
RefLoc          J Exp Med 198:521-531 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 9103466
RefAuthors      Kuhns, D. B., Long Priel, D. A., Gallin, J. I.
RefTitle        Endotoxin and IL-1 hyporesponsiveness in a patient with 
RefTitle        recurrent bacterial infections.
RefLoc          J Immunol 158:3959-3964 (1997)
RefNumber       [9]
RefCrossRef     PUBMED; 17893200
RefAuthors      Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y., 
RefAuthors      Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C., 
RefAuthors      Cunningham, C. K., Gallin, J., Holland, S. M., Roifman, 
RefAuthors      C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O., 
RefAuthors      McDonald, D., Day-Good, N. K., Miller, R., Takada, H., 
RefAuthors      Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D., 
RefAuthors      Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi, 
RefAuthors      L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C., 
RefAuthors      Bossuyt, X., Abel, L., Puel, A., Casanova, J. L.
RefTitle        Selective predisposition to bacterial infections in IRAK-4-
RefTitle        deficient children: IRAK-4-dependent TLRs are otherwise 
RefTitle        redundant in protective immunity.
RefLoc          J Exp Med 204:2407-22
DB CrossRef     IRAK4base; I0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AY186092: 15978
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF155118; GI:5360130; AF155118: 669
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q8TDF7: 207
Feature           /change: N -> TQLWQX
Feature           /domain: PK
Diagnosis       IRAK4 deficiency
Diagnosis       
Occurrence      Families: 8; Patients: 14; Homozygotes: 0
//
ID              RET_S767R(1); standard; MUTATION; PK
Accession       K00434
Systematic name g.42326T>G, c.2301T>G, r.2301u>g, p.Ser767Arg
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42326
Feature           /change: t -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2496
Feature           /codon: agt -> agg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 767
Feature           /change: S -> R
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_R873Q(1); standard; MUTATION; PK
Accession       K00435
Systematic name g.44028G>A, c.2618G>A, r.2618g>a, p.Arg873Gln
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            02-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
RefNumber       [2]
RefCrossRef     PUBMED; 11302967
RefAuthors      Gath, R., Goessling, A., Keller, K. M., Koletzko, S., 
RefAuthors      Coerdt, W., Muntefering, H., Wirth, S., Hofstra, R. M., 
RefAuthors      Mulligan, L., Eng, C., von Deimling, A.
RefTitle        Analysis of the RET, GDNF, EDN3, and EDNRB genes in 
RefTitle        patients with intestinal neuronal dysplasia and 
RefTitle        hirschsprung disease.
RefLoc          Gut 48:671-675 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44028
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2813
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 873
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       Hirschsprung disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              RET_F893L(1); standard; MUTATION; PK
Accession       K00436
Systematic name g.44087T>C, c.2677T>C, r.2677u>c, p.Phe893Leu
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44087
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2872
Feature           /codon: ttc -> ctc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 893
Feature           /change: F -> L
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_K907E(1); standard; MUTATION; PK
Accession       K00437
Systematic name g.44129A>G, c.2719A>G, r.2719a>g, p.Lys907Glu
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44129
Feature           /change: a -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2914
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 907
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_M980T(1); standard; MUTATION; PK
Accession       K00438
Systematic name g.47745T>C, c.2939T>C, r.2939u>c, p.Met980Thr
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 47745
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3134
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 980
Feature           /change: M -> T
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_E921K(1); standard; MUTATION; PK
Accession       K00439
Systematic name g.45913G>A, c.2761G>A, r.2761g>a, p.Glu921Lys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7581377
RefAuthors      Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., 
RefAuthors      Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., 
RefAuthors      Munnich, A.
RefTitle        Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic hirschsprung disease.
RefLoc          Hum Mol Genet 4:1381-1386 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45913
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2956
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 921
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_E734K(1); standard; MUTATION; PK
Accession       K00440
Systematic name g.40584G>A, c.2200G>A, r.2200g>a, p.Glu734Lys
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10946353
RefAuthors      Inoue, K., Shimotake, T., Iwai, N.
RefTitle        Mutational analysis of RET/GDNF/NTN genes in children with 
RefTitle        total colonic aganglionosis with small bowel involvement.
RefLoc          Am J Med Genet 93:278-284 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 40584
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2395
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 734
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_W942C(1); standard; MUTATION; PK
Accession       K00441
Systematic name g.47632G>C, c.2826G>C, r.2826g>c, p.Trp942Cys
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10946353
RefAuthors      Inoue, K., Shimotake, T., Iwai, N.
RefTitle        Mutational analysis of RET/GDNF/NTN genes in children with 
RefTitle        total colonic aganglionosis with small bowel involvement.
RefLoc          Am J Med Genet 93:278-284 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 47632
Feature           /change: g -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3021
Feature           /codon: tgg -> tgc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 942
Feature           /change: W -> C
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_R969W(1); standard; MUTATION; PK
Accession       K00442
Systematic name g.47711C>T, c.2905C>T, r.2905c>u, p.Arg969Trp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10946353
RefAuthors      Inoue, K., Shimotake, T., Iwai, N.
RefTitle        Mutational analysis of RET/GDNF/NTN genes in children with 
RefTitle        total colonic aganglionosis with small bowel involvement.
RefLoc          Am J Med Genet 93:278-284 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 47711
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3100
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 969
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 1
//
ID              RET_E884D(1); standard; MUTATION; PK
Accession       K00443
Systematic name g.44062G>C, c.2652G>C, r.2652g>c, p.Glu884Asp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            09-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9094027
RefAuthors      Shimotake, T., Iwai, N., Inoue, K., Kimura, T., Ichikawa, 
RefAuthors      D., Abe, T., Inazawa, J.
RefTitle        Germline mutation of the RET proto-oncogene in children 
RefTitle        with total intestinal aganglionosis.
RefLoc          J Pediatr Surg 32:498-500 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44062
Feature           /change: g -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2847
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 884
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_D771N(1); standard; MUTATION; PK
Accession       K00444
Systematic name g.42336G>A, c.2311G>A, r.2311g>a, p.Asp771Asn
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            09-Oct-2003 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11436122
RefAuthors      Julies, M. G., Moore, S. W., Kotze, M. J., du Plessis, L.
RefTitle        Novel RET mutations in hirschsprung's disease patients 
RefTitle        from the diverse south african population.
RefLoc          Eur J Hum Genet 9:419-423 (2001)
RefNumber       [6]
RefCrossRef     PUBMED; 17270543
RefAuthors      Moore, S. W., Appfelstaedt, J., Zaahl, M. G.
RefTitle        Familial medullary carcinoma prevention, risk evaluation, 
RefTitle        and RET in children of families with MEN2.
RefLoc          J Pediatr Surg 42:326-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42336
Feature           /change: g -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2506
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 771
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              RET_R813Q(1); standard; MUTATION; PK
Accession       K00445
Systematic name g.43513G>A, c.2438G>A, r.2438g>a, p.Arg813Gln
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            10-Oct-2003 (Rel. 2, Created)
Date            10-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10090908
RefAuthors      Auricchio, A., Griseri, P., Carpentieri, M. L., Betsos, 
RefAuthors      N., Staiano, A., Tozzi, A., Priolo, M., Thompson, H., 
RefAuthors      Bocciardi, R., Romeo, G., Ballabio, A., Ceccherini, I.
RefTitle        Double heterozygosity for a RET substitution interfering 
RefTitle        with splicing and an EDNRB missense mutation in 
RefTitle        hirschsprung disease.
RefLoc          Am J Hum Genet 64:1216-1221 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43513
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2633
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 813
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_S922F(1); standard; MUTATION; PK
Accession       K00446
Systematic name g.45917C>T, c.2765C>T, r.2765c>u, p.Ser922Phe
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            10-Oct-2003 (Rel. 2, Created)
Date            10-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11692159
RefAuthors      Kalinin, V. N., Amosenko, F. A., Shabanov, M. A., 
RefAuthors      Lubchenko, L. N., Hosch, S. B., Garkavtseva, R. F., 
RefAuthors      Izbicki, J. R.
RefTitle        Three novel mutations in the RET proto-oncogene.
RefLoc          J Mol Med 79:609-612 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45917
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2960
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 922
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_W308C(1); standard; MUTATION; PK
Accession       K00447
Systematic name g.17075G>T, c.924G>T, r.924g>u, p.Trp308Cys
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9837816
RefAuthors      Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., 
RefAuthors      Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., 
RefAuthors      Antonarakis, S. E.
RefTitle        Loss of LKB1 kinase activity in peutz-jeghers syndrome, 
RefTitle        and evidence for allelic and locus heterogeneity.
RefLoc          Am J Hum Genet 63:1641-1650 (1998)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [6]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
RefNumber       [5]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17075
Feature           /change: g -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1262
Feature           /codon: tgg -> tgt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 308
Feature           /change: W -> C
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 13; Patients: 20; Homozygotes: 0
//
ID              STK11_D176N(1); standard; MUTATION; PK
Accession       K00448
Systematic name g.14521G>A, c.526G>A, r.526g>a, p.Asp176Asn
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            22-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9837816
RefAuthors      Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., 
RefAuthors      Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., 
RefAuthors      Antonarakis, S. E.
RefTitle        Loss of LKB1 kinase activity in peutz-jeghers syndrome, 
RefTitle        and evidence for allelic and locus heterogeneity.
RefLoc          Am J Hum Genet 63:1641-1650 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point

Feature           /loc: IDRefSeq: STK11_DNA: 14521
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 864
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 176
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 5; Homozygotes: 
//
ID              STK11_@I192X265(1); standard; MUTATION; PK
Accession       K00449
Systematic name g.14569dupA, c.574dupA, r.574dupa, p.Ile192fsX73
Description     A frame shift duplication mutation in the exon 4 leading to
Description     a premature stop codon in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9837816
RefAuthors      Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., 
RefAuthors      Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., 
RefAuthors      Antonarakis, S. E.
RefTitle        Loss of LKB1 kinase activity in peutz-jeghers syndrome, 
RefTitle        and evidence for allelic and locus heterogeneity.
RefLoc          Am J Hum Genet 63:1641-1650 (1998)
RefNumber       [5]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 14570
Feature           /change: +a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 913
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 192
Feature           /change: I -> 
Feature           /change: NLRPGRGRGT APVRGGRHLP DQPGLPGFPA ARDCQRPGHL
Feature           /change: LRLQGGHLVG WGHPLQHHHG SVPLRRGQHL QVVX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_#R301X335(1); standard; MUTATION; PK
Accession       K00450
Systematic name g.16076delG, c.903delG, r.903delg, p.Gln302fsX33
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9837816
RefAuthors      Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., 
RefAuthors      Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., 
RefAuthors      Antonarakis, S. E.
RefTitle        Loss of LKB1 kinase activity in peutz-jeghers syndrome, 
RefTitle        and evidence for allelic and locus heterogeneity.
RefLoc          Am J Hum Genet 63:1641-1650 (1998)
RefNumber       [5]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 16076
Feature           /change: -g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1241
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 301
Feature           /change: R -> RRSGSTAGSG RNILRLKHQC PSHRAQTPRT GGAAX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 9; Homozygotes: 0
//
ID              STK11_#D53X63(1); standard; MUTATION; PK
Accession       K00451
Systematic name g.1158delA, c.158delA, r.158dela, p.Asp53fsX10
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            22-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9887330
RefAuthors      Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, 
RefAuthors      M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., 
RefAuthors      Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, 
RefAuthors      P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., 
RefAuthors      Aaltonen, L. A.
RefTitle        Mutations and impaired function of LKB1 in familial and 
RefTitle        non-familial peutz-jeghers syndrome and a sporadic 
RefTitle        testicular cancer.
RefLoc          Hum Mol Genet 8:45-51 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1158
Feature           /change: -a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 496
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 53
Feature           /change: D -> ACWGKALTAR X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_F157S(1); standard; MUTATION; PK
Accession       K00452
Systematic name g.14465T>C, c.470T>C, r.470u>c, p.Phe157Ser
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9887330
RefAuthors      Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, 
RefAuthors      M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., 
RefAuthors      Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, 
RefAuthors      P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., 
RefAuthors      Aaltonen, L. A.
RefTitle        Mutations and impaired function of LKB1 in familial and 
RefTitle        non-familial peutz-jeghers syndrome and a sporadic 
RefTitle        testicular cancer.
RefLoc          Hum Mol Genet 8:45-51 (1999)
RefNumber       [6]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14465
Feature           /change: t -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 808
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 157
Feature           /change: F -> S
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_Q152X(1); standard; MUTATION; PK
Accession       K00453
Systematic name g.13490C>T, c.454C>T, r.454c>u, p.Gln152X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9887330
RefAuthors      Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, 
RefAuthors      M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., 
RefAuthors      Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, 
RefAuthors      P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., 
RefAuthors      Aaltonen, L. A.
RefTitle        Mutations and impaired function of LKB1 in familial and 
RefTitle        non-familial peutz-jeghers syndrome and a sporadic 
RefTitle        testicular cancer.
RefLoc          Hum Mol Genet 8:45-51 (1999)
RefNumber       [6]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
RefNumber       [4]
RefCrossRef     PUBMED; 17026623
RefAuthors      Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., 
RefAuthors      Spigelman, A. D., Scott, R. J.
RefTitle        An updated mutation spectrum in an Australian series of 
RefTitle        PJS patients provides further evidence for only one gene 
RefTitle        locus.
RefLoc          Clin Genet 70:409-14
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 13490
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 792
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 152
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              STK11_N181Y(1); standard; MUTATION; PK
Accession       K00454
Systematic name g.14536A>T, c.541A>T, r.541a>u, p.Asn181Tyr
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            22-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9887330
RefAuthors      Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, 
RefAuthors      M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., 
RefAuthors      Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, 
RefAuthors      P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., 
RefAuthors      Aaltonen, L. A.
RefTitle        Mutations and impaired function of LKB1 in familial and 
RefTitle        non-familial peutz-jeghers syndrome and a sporadic 
RefTitle        testicular cancer.
RefLoc          Hum Mol Genet 8:45-51 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14536
Feature           /change: a -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 879
Feature           /codon: aac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 181
Feature           /change: N -> Y
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              STK11_W308X(1); standard; MUTATION; PK
Accession       K00455
Systematic name g.17074G>A, c.923G>A, r.923g>a, p.Trp308X
Description     A point mutation in the exon 8 leading to a premature stop
Description     codon in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9887330
RefAuthors      Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, 
RefAuthors      M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., 
RefAuthors      Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, 
RefAuthors      P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., 
RefAuthors      Aaltonen, L. A.
RefTitle        Mutations and impaired function of LKB1 in familial and 
RefTitle        non-familial peutz-jeghers syndrome and a sporadic 
RefTitle        testicular cancer.
RefLoc          Hum Mol Genet 8:45-51 (1999)
RefNumber       [8]
RefCrossRef     PUBMED; 20497868
RefAuthors      Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C.
RefTitle        Clinical and genetic analysis of Peutz-Jeghers syndrome 
RefTitle        patients in Taiwan.
RefLoc          J Formos Med Assoc 109:354-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17074
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1261
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 308
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_Q220X(1); standard; MUTATION; PK
Accession       K00456
Systematic name g.14728C>T, c.658C>T, r.658c>u, p.Gln220X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            22-Oct-2003 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9887330
RefAuthors      Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, 
RefAuthors      M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., 
RefAuthors      Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, 
RefAuthors      P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., 
RefAuthors      Aaltonen, L. A.
RefTitle        Mutations and impaired function of LKB1 in familial and 
RefTitle        non-familial peutz-jeghers syndrome and a sporadic 
RefTitle        testicular cancer.
RefLoc          Hum Mol Genet 8:45-51 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
RefNumber       [4]
RefCrossRef     PUBMED; 17026623
RefAuthors      Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., 
RefAuthors      Spigelman, A. D., Scott, R. J.
RefTitle        An updated mutation spectrum in an Australian series of 
RefTitle        PJS patients provides further evidence for only one gene 
RefTitle        locus.
RefLoc          Clin Genet 70:409-14
RefNumber       [11]
RefCrossRef     PUBMED; 20559149
RefAuthors      Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., 
RefAuthors      Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H.
RefTitle        Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung 
RefTitle        adenocarcinomas.
RefLoc          J Thorac Oncol 5:1130-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14728
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 996
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 220
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              MET_Y1235D(1); standard; MUTATION; PK
Accession       K00457
Systematic name g.111970T>G, c.3703T>G, r.3703u>g, p.Tyr1235Asp
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10734314
RefAuthors      Di Renzo, M. F., Olivero, M., Martone, T., Maffe, A., 
RefAuthors      Maggiora, P., Stefani, A. D., Valente, G., Giordano, S., 
RefAuthors      Cortesina, G., Comoglio, P. M.
RefTitle        Somatic mutations of the MET oncogene are selected during 
RefTitle        metastatic spread of human HNSC carcinomas.
RefLoc          Oncogene 19:1547-1555 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 14627992
RefAuthors      Aebersold, D. M., Landt, O., Berthou, S., Gruber, G., 
RefAuthors      Beer, K. T., Greiner, R. H., Zimmer, Y.
RefTitle        Prevalence and clinical impact of met Y1253D-activating 
RefTitle        point mutation in radiotherapy-treated squamous cell 
RefTitle        cancer of the oropharynx.
RefLoc          Oncogene 22:8519-8523 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111970
Feature           /change: t -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3897
Feature           /codon: tat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1235
Feature           /change: Y -> D
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 18; Patients: 18; Homozygotes: 0
//
ID              MET_T1173I(1); standard; MUTATION; PK
Accession       K00458
Systematic name g.107549C>T, c.3518C>T, r.3518c>u, p.Thr1173Ile
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9927037
RefAuthors      Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. 
RefAuthors      S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, 
RefAuthors      K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., 
RefAuthors      Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y.
RefTitle        Somatic mutations in the kinase domain of the 
RefTitle        met/hepatocyte growth factor receptor gene in childhood 
RefTitle        hepatocellular carcinomas.
RefLoc          Cancer Res 59:307-310 (1999)
DB CrossRef     OMIM; 164860.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 107549
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3712
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1173
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Childhood hepatocellular carcinomas
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              MET_M1250I(1); standard; MUTATION; PK
Accession       K00459
Systematic name g.112017G>A, c.3750G>A, r.3750g>a, p.Met1250Ile
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9927037
RefAuthors      Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. 
RefAuthors      S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, 
RefAuthors      K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., 
RefAuthors      Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y.
RefTitle        Somatic mutations in the kinase domain of the 
RefTitle        met/hepatocyte growth factor receptor gene in childhood 
RefTitle        hepatocellular carcinomas.
RefLoc          Cancer Res 59:307-310 (1999)
DB CrossRef     OMIM; 164860.0009
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 112017
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3944
Feature           /codon: atg -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1250
Feature           /change: M -> I
Feature           /domain: PK
Diagnosis       Childhood hepatocellular carcinomas
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              MET_K1244R(1); standard; MUTATION; PK
Accession       K00460
Systematic name g.111998A>G, c.3731A>G, r.3731a>g, p.Lys1244Arg
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9927037
RefAuthors      Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. 
RefAuthors      S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, 
RefAuthors      K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., 
RefAuthors      Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y.
RefTitle        Somatic mutations in the kinase domain of the 
RefTitle        met/hepatocyte growth factor receptor gene in childhood 
RefTitle        hepatocellular carcinomas.
RefLoc          Cancer Res 59:307-310 (1999)
DB CrossRef     OMIM; 164860.0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 111998
Feature           /change: a -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3925
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1244
Feature           /change: K -> R
Feature           /domain: PK
Diagnosis       Childhood hepatocellular carcinomas
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              MET_H1094R(1); standard; MUTATION; PK
Accession       K00461
Systematic name g.106006A>G, c.3281A>G, r.3281a>g, p.His1094Arg
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9563489
RefAuthors      Schmidt, L., Junker, K., Weirich, G., Glenn, G., Choyke, 
RefAuthors      P., Lubensky, I., Zhuang, Z., Jeffers, M., Vande Woude, 
RefAuthors      G., Neumann, H., Walther, M., Linehan, W. M., Zbar, B.
RefTitle        Two north american families with hereditary papillary 
RefTitle        renal carcinoma and identical novel mutations in the MET 
RefTitle        proto-oncogene.
RefLoc          Cancer Res 58:1719-1722 (1998)
DB CrossRef     OMIM; 164860.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 106006
Feature           /change: a -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3475
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1094
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 2; Patients: 20; Homozygotes: 
//
ID              MET_H1094Y(1); standard; MUTATION; PK
Accession       K00462
Systematic name g.106005C>T, c.3280C>T, r.3280c>u, p.His1094Tyr
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            23-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10327054
RefAuthors      Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., 
RefAuthors      Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., 
RefAuthors      Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, 
RefAuthors      R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., 
RefAuthors      Linehan, W. M., Zbar, B.
RefTitle        Novel mutations of the MET proto-oncogene in papillary 
RefTitle        renal carcinomas.
RefLoc          Oncogene 18:2343-2350 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 106005
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3474
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1094
Feature           /change: H -> Y
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 2; Patients: 2; Homozygotes: 
//
ID              MET_H1106D(1); standard; MUTATION; PK
Accession       K00463
Systematic name g.106041C>G, c.3316C>G, r.3316c>g, p.His1106Asp
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            23-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10327054
RefAuthors      Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., 
RefAuthors      Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., 
RefAuthors      Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, 
RefAuthors      R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., 
RefAuthors      Linehan, W. M., Zbar, B.
RefTitle        Novel mutations of the MET proto-oncogene in papillary 
RefTitle        renal carcinomas.
RefLoc          Oncogene 18:2343-2350 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 106041
Feature           /change: c -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3510
Feature           /codon: cac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1106
Feature           /change: H -> D
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              MET_V1092I(1); standard; MUTATION; PK
Accession       K00464
Systematic name g.105999G>A, c.3274G>A, r.3274g>a, p.Val1092Ile
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            23-Oct-2003 (Rel. 2, Created)
Date            23-Oct-2003 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10417759
RefAuthors      Olivero, M., Valente, G., Bardelli, A., Longati, P., 
RefAuthors      Ferrero, N., Cracco, C., Terrone, C., Rocca-Rossetti, S., 
RefAuthors      Comoglio, P. M., Di Renzo, M. F.
RefTitle        Novel mutation in the ATP-binding site of the MET oncogene 
RefTitle        tyrosine kinase in a HPRCC family.
RefLoc          Int J Cancer 82:640-643 (1999)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 105999
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3468
Feature           /codon: gta -> ata; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1092
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 3; Homozygotes: 
//
ID              KIT_E839K(1); standard; MUTATION; PK
Accession       K00465
Systematic name g.79513G>A, c.2515G>A, r.2515g>a, p.Glu839Lys
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            28-Oct-2003 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9990072
RefAuthors      Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., 
RefAuthors      Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y.
RefTitle        Activating and dominant inactivating c-KIT catalytic 
RefTitle        domain mutations in distinct clinical forms of human 
RefTitle        mastocytosis.
RefLoc          Proc Natl Acad Sci U S A 96:1609-1614 (1999)
DB CrossRef     OMIM; 164920.0020
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 79513
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2536
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 839
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Childhood-onset sporadic mastocytosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_A883F(1); standard; MUTATION; PK
Accession       K00466
Systematic name g.44057G>T, c.2647G>T, r.2647g>u, p.Ala883Ser
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Oct-2003 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 8729519
RefAuthors      Marsh, D. J., Learoyd, D. L., Andrew, S. D., Krishnan, L., 
RefAuthors      Pojer, R., Richardson, A. L., Delbridge, L., Eng, C., 
RefAuthors      Robinson, B. G.
RefTitle        Somatic mutations in the RET proto-oncogene in sporadic 
RefTitle        medullary thyroid carcinoma.
RefLoc          Clin Endocrinol (Oxf) 44:249-257 (1996)
RefNumber       [2]
RefCrossRef     PUBMED; 9360560
RefAuthors      Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., 
RefAuthors      Dahia, P. L., Mulligan, L. M., Zajac, J. D., Robinson, B. 
RefAuthors      G., Eng, C.
RefTitle        Germline dinucleotide mutation in codon 883 of the RET 
RefTitle        proto-oncogene in multiple endocrine neoplasia type 2B 
RefTitle        without codon 918 mutation.
RefLoc          J Clin Endocrinol Metab 82:3902-3904 (1997)
RefNumber       [3]
RefCrossRef     PUBMED; 9294615
RefAuthors      Smith, D. P., Houghton, C., Ponder, B. A.
RefTitle        Germline mutation of RET codon 883 in two cases of de novo 
RefTitle        MEN 2B.
RefLoc          Oncogene 15:1213-1217 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44057
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2842
Feature           /codon: gct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 883
Feature           /change: A -> S
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 5; Patients: 7; Homozygotes: 0
//
ID              KIT_D816F(1); standard; MUTATION; PK
Accession       K00467
Systematic name g.76139G>T, c.2446G>T, r.2446g>u, p.Asp816Tyr
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            29-Oct-2003 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9990072
RefAuthors      Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., 
RefAuthors      Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y.
RefTitle        Activating and dominant inactivating c-KIT catalytic 
RefTitle        domain mutations in distinct clinical forms of human 
RefTitle        mastocytosis.
RefLoc          Proc Natl Acad Sci U S A 96:1609-1614 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 12598308
RefAuthors      Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, 
RefAuthors      S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B.
RefTitle        One-step detection of c-kit point mutations using peptide 
RefTitle        nucleic acid-mediated polymerase chain reaction clamping 
RefTitle        and hybridization probes.
RefLoc          Am J Pathol 162:737-746 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76139
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2467
Feature           /codon: gac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 816
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Childhood-onset sporadic mastocytosis
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              RHOK_T298M(1); standard; MUTATION; PK
Accession       K00468
Systematic name g.1001C>T, c.893C>T, r.893c>u, p.Thr298Met
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            30-Oct-2003 (Rel. 2, Created)
Date            30-Oct-2003 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RHOK_DNA: 1001
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 1001
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RK_HUMAN: 298
Feature           /change: T -> M
Feature           /domain: PK
Diagnosis       Autosomal recessive retinis pigmentosa
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RHOK_N330S(1); standard; MUTATION; PK
Accession       K00469
Systematic name g.1097A>G, c.989A>G, r.989a>g, p.Asn330Ser
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            30-Oct-2003 (Rel. 2, Created)
Date            30-Oct-2003 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RHOK_DNA: 1097
Feature           /change: a -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 1097
Feature           /codon: aat -> agt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RK_HUMAN: 330
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Autosomal recessive retinis pigmentosa
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RHOK_R438H(1); standard; MUTATION; PK
Accession       K00470
Systematic name g.1421G>A, c.1313G>A, r.1313g>a, p.Arg438His
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            30-Oct-2003 (Rel. 2, Created)
Date            30-Oct-2003 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RHOK_DNA: 1421
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 1421
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RK_HUMAN: 438
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Autosomal recessive retinis pigmentosa
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              CHEK2_E239X(1); standard; MUTATION; PK
Accession       K00471
Systematic name g.33724G>T, c.715G>T, r.715g>u, p.Glu239X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
DB CrossRef     OMIM; 604373.0010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 33724
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 751
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 239
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CHEK2_E239K(1); standard; MUTATION; PK
Accession       K00472
Systematic name g.33724G>A, c.715G>A, r.715g>a, p.Glu239Lys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            25-Jun-2008 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
DB CrossRef     OMIM; 604373.0011
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 33724
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 751
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 239
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Prostate cancer
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              CHEK2_I251F(1); standard; MUTATION; PK
Accession       K00473
Systematic name g.33760A>T, c.751A>T, r.751a>u, p.Ile251Phe
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 33760
Feature           /change: a -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 787
Feature           /codon: atc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 251
Feature           /change: I -> F
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CHEK2_R318H(1); standard; MUTATION; PK
Accession       K00474
Systematic name g.45817G>A, c.953G>A, r.953g>a, p.Arg318His
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 45817
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 989
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 318
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CHEK2_T323P(1); standard; MUTATION; PK
Accession       K00475
Systematic name g.45831A>C, c.967A>C, r.967a>c, p.Thr323Pro
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            25-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 45831
Feature           /change: a -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1003
Feature           /codon: acc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 323
Feature           /change: T -> P
Feature           /domain: PK
Diagnosis       Prostate cancer
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              CHEK2_Y327C(1); standard; MUTATION; PK
Accession       K00476
Systematic name g.45844A>G, c.980A>G, r.980a>g, p.Tyr327Cys
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 45844
Feature           /change: a -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1016
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 327
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CHEK2_T476K(1); standard; MUTATION; PK
Accession       K00477
Systematic name g.51644C>A, c.1427C>A, r.1427c>a, p.Thr476Lys
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            09-Jan-2004 (Rel. 2, Created)
Date            25-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12533788
RefAuthors      Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, 
RefAuthors      J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, 
RefAuthors      S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., 
RefAuthors      Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. 
RefAuthors      J., Thibodeau, S. N., Liu, W.
RefTitle        Mutations in CHEK2 associated with prostate cancer risk.
RefLoc          Am J Hum Genet 72:270-280 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 51644
Feature           /change: c -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1463
Feature           /codon: acg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 476
Feature           /change: T -> K
Feature           /domain: PK
Diagnosis       Prostate cancer
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR1_V607M(1); standard; MUTATION; PK
Accession       K00478
Systematic name g.53714G>A, c.1819G>A, r.1819g>a, p.Val607Met
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            15-Jan-2004 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 12627230
RefAuthors      Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le 
RefAuthors      Du, N., Soussi-Yanicostas, N., Coimbra, R. S., 
RefAuthors      Delmaghani, S., Compain-Nouaille, S., Baverel, F., 
RefAuthors      Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., 
RefAuthors      Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., 
RefAuthors      Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de 
RefAuthors      Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., 
RefAuthors      Sanchez-Franco, F., Saura, R., Young, J., Petit, C., 
RefAuthors      Hardelin, J. P.
RefTitle        Loss-of-function mutations in FGFR1 cause autosomal 
RefTitle        dominant kallmann syndrome.
RefLoc          Nat Genet 33:463-465 (2003)
DB CrossRef     OMIM; 136350.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 53714
Feature           /change: g -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2545
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 607
Feature           /change: V -> M
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Diagnosis       
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
Comment         -!-donor splice site mutation
//
ID              FGFR1_R622X(1); standard; MUTATION; PK
Accession       K00479
Systematic name g.54727C>T, c.1864C>T, r.1864c>u, p.Arg622X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the PK domain
Date            15-Jan-2004 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 12627230
RefAuthors      Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le 
RefAuthors      Du, N., Soussi-Yanicostas, N., Coimbra, R. S., 
RefAuthors      Delmaghani, S., Compain-Nouaille, S., Baverel, F., 
RefAuthors      Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., 
RefAuthors      Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., 
RefAuthors      Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de 
RefAuthors      Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., 
RefAuthors      Sanchez-Franco, F., Saura, R., Young, J., Petit, C., 
RefAuthors      Hardelin, J. P.
RefTitle        Loss-of-function mutations in FGFR1 cause autosomal 
RefTitle        dominant kallmann syndrome.
RefLoc          Nat Genet 33:463-465 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 15613419
RefAuthors      Pitteloud, N., Acierno, J. S., Meysing, A. U., Dwyer, A. 
RefAuthors      A., Hayes, F. J., Crowley, W. F.
RefTitle        Reversible kallmann syndrome, delayed puberty, and 
RefTitle        isolated anosmia occurring in a single family with a 
RefTitle        mutation in the fibroblast growth factor receptor 1 gene.
RefLoc          J Clin Endocrinol Metab 90:1317-22
RefNumber       [7]
RefCrossRef     PUBMED; 16764984
RefAuthors      Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., 
RefAuthors      Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, 
RefAuthors      F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., 
RefAuthors      Mohammadi, M., Crowley, W. F.
RefTitle        Mutations in fibroblast growth factor receptor 1 cause 
RefTitle        Kallmann syndrome with a wide spectrum of reproductive 
RefTitle        phenotypes.
RefLoc          Mol Cell Endocrinol 254-255:60-9
RefNumber       [11]
RefCrossRef     PUBMED; 17200176
RefAuthors      Xu, N., Qin, Y., Reindollar, R. H., Tho, S. P., McDonough, 
RefAuthors      P. G., Layman, L. C.
RefTitle        A mutation in the fibroblast growth factor receptor 1 gene 
RefTitle        causes fully penetrant normosmic isolated hypogonadotropic 
RefTitle        hypogonadism.
RefLoc          J Clin Endocrinol Metab 92:1155-8
DB CrossRef     OMIM; 136350.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 54727
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2590
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 622
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 5; Patients: 17; Homozygotes: 0
Comment         -!-Hypogonadotropic Hypogonadism
//
ID              FGFR1_#T657X673(1); standard; MUTATION; PK
Accession       K00480
Systematic name g.54833delC, c.1970delC, r.1970delc, p.Thr657fsX7
Description     A frame shift deletion mutation in the exon 14 leading to a
Description     premature stop codon in the PK domain
Date            15-Jan-2004 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12627230
RefAuthors      Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le 
RefAuthors      Du, N., Soussi-Yanicostas, N., Coimbra, R. S., 
RefAuthors      Delmaghani, S., Compain-Nouaille, S., Baverel, F., 
RefAuthors      Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., 
RefAuthors      Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., 
RefAuthors      Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de 
RefAuthors      Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., 
RefAuthors      Sanchez-Franco, F., Saura, R., Young, J., Petit, C., 
RefAuthors      Hardelin, J. P.
RefTitle        Loss-of-function mutations in FGFR1 cause autosomal 
RefTitle        dominant kallmann syndrome.
RefLoc          Nat Genet 33:463-465 (2003)
DB CrossRef     OMIM; 136350.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: FGFR1_DNA: 54833
Feature           /change: -c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2696
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 657
Feature           /change: T -> KPTADCLX
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families:  1; Patients:  3; Homozygotes: 0
//
ID              FGFR1_W666R(1); standard; MUTATION; PK
Accession       K00481
Systematic name g.55008T>A, c.1996T>A, r.1996u>a, p.Trp666Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            15-Jan-2004 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 12627230
RefAuthors      Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le 
RefAuthors      Du, N., Soussi-Yanicostas, N., Coimbra, R. S., 
RefAuthors      Delmaghani, S., Compain-Nouaille, S., Baverel, F., 
RefAuthors      Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., 
RefAuthors      Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., 
RefAuthors      Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de 
RefAuthors      Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., 
RefAuthors      Sanchez-Franco, F., Saura, R., Young, J., Petit, C., 
RefAuthors      Hardelin, J. P.
RefTitle        Loss-of-function mutations in FGFR1 cause autosomal 
RefTitle        dominant kallmann syndrome.
RefLoc          Nat Genet 33:463-465 (2003)
DB CrossRef     OMIM; 136350.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55008
Feature           /change: t -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2722
Feature           /codon: tgg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 666
Feature           /change: W -> R
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_M719R(2); standard; MUTATION; PK
Accession       K00484
Systematic name g.55437T>G, c.2156T>G, r.2156u>g, p.Met719Arg
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            15-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12627230
RefAuthors      Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le 
RefAuthors      Du, N., Soussi-Yanicostas, N., Coimbra, R. S., 
RefAuthors      Delmaghani, S., Compain-Nouaille, S., Baverel, F., 
RefAuthors      Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., 
RefAuthors      Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., 
RefAuthors      Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de 
RefAuthors      Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., 
RefAuthors      Sanchez-Franco, F., Saura, R., Young, J., Petit, C., 
RefAuthors      Hardelin, J. P.
RefTitle        Loss-of-function mutations in FGFR1 cause autosomal 
RefTitle        dominant kallmann syndrome.
RefLoc          Nat Genet 33:463-465 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55437
Feature           /change: t -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2882
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 719
Feature           /change: M -> R
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_N822K(1); standard; MUTATION; PK
Accession       K00486
Systematic name g.76159T>A, c.2466T>A, r.2466u>a, p.Asn822Lys
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            16-Jan-2004 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 10)
RefNumber       [1]
RefCrossRef     PUBMED; 14695343
RefAuthors      Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, 
RefAuthors      L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., 
RefAuthors      Town, A., Heinrich, M. C.
RefTitle        KIT mutations are common in testicular seminomas.
RefLoc          Am J Pathol 164:305-313 (2004)
RefNumber       [2]
RefCrossRef     PUBMED; 12824897
RefAuthors      Kitamura, Y., Hirota, S., Nishida, T.
RefTitle        Gastrointestinal stromal tumors (GIST): a model for 
RefTitle        molecule-based diagnosis and treatment of solid tumors.
RefLoc          Cancer Sci 94:315-320 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 11719439
RefAuthors      Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. 
RefAuthors      L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., 
RefAuthors      Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, 
RefAuthors      J. A.
RefTitle        KIT activation is a ubiquitous feature of gastrointestinal 
RefTitle        stromal tumors.
RefLoc          Cancer Res 61:8118-8121 (2001)
RefNumber       [4]
RefCrossRef     PUBMED; 14645423
RefAuthors      Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, 
RefAuthors      C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., 
RefAuthors      Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, 
RefAuthors      B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, 
RefAuthors      C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A.
RefTitle        Kinase mutations and imatinib response in patients with 
RefTitle        metastatic gastrointestinal stromal tumor.
RefLoc          J Clin Oncol 21:4342-4349 (2003)
RefNumber       [14]
RefCrossRef     PUBMED; 17504295
RefAuthors      Steigen, S. E., Eide, T. J., Wasag, B., Lasota, J., 
RefAuthors      Miettinen, M.
RefTitle        Mutations in gastrointestinal stromal tumors--a population-
RefTitle        based study from Northern Norway.
RefLoc          APMIS 115:289-98
RefNumber       [16]
RefCrossRef     PUBMED; 17566038
RefAuthors      Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, 
RefAuthors      G., Frilling, A., Schmid, K. W.
RefTitle        Double resistance to imatinib and AMG 706 caused by 
RefTitle        multiple acquired KIT exon 17 mutations in a 
RefTitle        gastrointestinal stromal tumour.
RefLoc          Gut 56:1025-6
RefNumber       [20]
RefCrossRef     PUBMED; 18246046
RefAuthors      Lasota, J., Corless, C. L., Heinrich, M. C., Debiec-
RefAuthors      Rychter, M., Sciot, R., Wardelmann, E., Merkelbach-Bruse, 
RefAuthors      S., Schildhaus, H. U., Steigen, S. E., Stachura, J., 
RefAuthors      Wozniak, A., Antonescu, C., Daum, O., Martin, J., Del 
RefAuthors      Muro, J. G., Miettinen, M.
RefTitle        Clinicopathologic profile of gastrointestinal stromal 
RefTitle        tumors (GISTs) with primary KIT exon 13 or exon 17 
RefTitle        mutations: a multicenter study on 54 cases.
RefLoc          Mod Pathol 21:476-84
RefNumber       [8]
RefCrossRef     PUBMED; 18724244
RefAuthors      Thalheimer, A., Schlemmer, M., Bueter, M., Merkelbach-
RefAuthors      Bruse, S., Schildhaus, H. U., Buettner, R., Hartung, E., 
RefAuthors      Thiede, A., Meyer, D., Fein, M., Maroske, J., Wardelmann, 
RefAuthors      E.
RefTitle        Familial gastrointestinal stromal tumors caused by the 
RefTitle        novel KIT exon 17 germline mutation N822Y.
RefLoc          Am J Surg Pathol 32:1560-1565 (2008)
RefNumber       [30]
RefCrossRef     PUBMED; 20471335
RefAuthors      Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., 
RefAuthors      Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P.
RefTitle        High frequency of concomitant mastocytosis in patients 
RefTitle        with acute myeloid leukemia exhibiting the transforming 
RefTitle        KIT mutation D816V.
RefLoc          Mol Oncol 4:335-46
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76159
Feature           /change: t -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2487
Feature           /codon: aat -> aaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 822
Feature           /change: N -> K
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Piepaldism
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Childhood-onset sporadic mastocytosis
Occurrence      Families: 7; Patients: 10; Homozygotes: 0
//
ID              KIT_Y823D(1); standard; MUTATION; PK
Accession       K00487
Systematic name g.76160T>G, c.2467T>G, r.2467u>g, p.Tyr823Asp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            16-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 14695343
RefAuthors      Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, 
RefAuthors      L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., 
RefAuthors      Town, A., Heinrich, M. C.
RefTitle        KIT mutations are common in testicular seminomas.
RefLoc          Am J Pathol 164:305-313 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76160
Feature           /change: t -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2488
Feature           /codon: tat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 823
Feature           /change: Y -> D
Feature           /domain: PK
Diagnosis       Germ cell tumor
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              KIT_Y823C(1); standard; MUTATION; PK
Accession       K00488
Systematic name g.76161A>G, c.2468A>G, r.2468a>g, p.Tyr823Cys
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            16-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 14695343
RefAuthors      Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, 
RefAuthors      L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., 
RefAuthors      Town, A., Heinrich, M. C.
RefTitle        KIT mutations are common in testicular seminomas.
RefLoc          Am J Pathol 164:305-313 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76161
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2489
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 823
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Germ cell tumor
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_T801I(1); standard; MUTATION; PK
Accession       K00489
Systematic name g.76095C>T, c.2402C>T, r.2402c>u, p.Thr801Ile
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            16-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 14695343
RefAuthors      Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, 
RefAuthors      L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., 
RefAuthors      Town, A., Heinrich, M. C.
RefTitle        KIT mutations are common in testicular seminomas.
RefLoc          Am J Pathol 164:305-313 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76095
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2423
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 801
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Germ cell tumor
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_K642Q(1); standard; MUTATION; PK
Accession       K00490
Systematic name g.71040A>C, c.1924A>C, r.1924a>c, p.Lys642Gln
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12918066
RefAuthors      Wardelmann, E., Losen, I., Hans, V., Neidt, I., Speidel, 
RefAuthors      N., Bierhoff, E., Heinicke, T., Pietsch, T., Buttner, R., 
RefAuthors      Merkelbach-Bruse, S.
RefTitle        Deletion of trp-557 and lys-558 in the juxtamembrane 
RefTitle        domain of the c-kit protooncogene is associated with 
RefTitle        metastatic behavior of gastrointestinal stromal tumors.
RefLoc          Int J Cancer 106:887-895 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 15010069
RefAuthors      Debiec-Rychter, M., Dumez, H., Judson, I., Wasag, B., 
RefAuthors      Verweij, J., Brown, M., Dimitrijevic, S., Sciot, R., Stul, 
RefAuthors      M., Vranck, H., Scurr, M., Hagemeijer, A., Van Glabbeke, 
RefAuthors      M., Van Oosterom, A. T.
RefTitle        Use of c-KIT/PDGFRA mutational analysis to predict the 
RefTitle        clinical response to imatinib in patients with advanced 
RefTitle        gastrointestinal stromal tumours entered on phase I and II 
RefTitle        studies of the EORTC soft tissue and bone sarcoma group.
RefLoc          Eur J Cancer 40:689-695 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71040
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1945
Feature           /codon: aaa -> caa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 642
Feature           /change: K -> Q
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              KIT_D820Y(1); standard; MUTATION; PK
Accession       K00491
Systematic name g.76151G>T, c.2458G>T, r.2458g>u, p.Asp820Tyr
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11984533
RefAuthors      Hirota, S., Nishida, T., Isozaki, K., Taniguchi, M., 
RefAuthors      Nishikawa, K., Ohashi, A., Takabayashi, A., Obayashi, T., 
RefAuthors      Okuno, T., Kinoshita, K., Chen, H., Shinomura, Y., 
RefAuthors      Kitamura, Y.
RefTitle        Familial gastrointestinal stromal tumors associated with 
RefTitle        dysphagia and novel type germline mutation of KIT gene.
RefLoc          Gastroenterology 122:1493-1499 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76151
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2479
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 820
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: ?; Homozygotes: 0
//
ID              KIT_K642E(1); standard; MUTATION; PK
Accession       K00492
Systematic name g.71040A>G, c.1924A>G, r.1924a>g, p.Lys642Glu
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 10)
RefNumber       [1]
RefCrossRef     PUBMED; 12824897
RefAuthors      Kitamura, Y., Hirota, S., Nishida, T.
RefTitle        Gastrointestinal stromal tumors (GIST): a model for 
RefTitle        molecule-based diagnosis and treatment of solid tumors.
RefLoc          Cancer Sci 94:315-320 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 10702394
RefAuthors      Lux, M. L., Rubin, B. P., Biase, T. L., Chen, C. J., 
RefAuthors      Maclure, T., Demetri, G., Xiao, S., Singer, S., Fletcher, 
RefAuthors      C. D., Fletcher, J. A.
RefTitle        KIT extracellular and kinase domain mutations in 
RefTitle        gastrointestinal stromal tumors.
RefLoc          Am J Pathol 156:791-795 (2000)
RefNumber       [3]
RefCrossRef     PUBMED; 14645423
RefAuthors      Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, 
RefAuthors      C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., 
RefAuthors      Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, 
RefAuthors      B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, 
RefAuthors      C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A.
RefTitle        Kinase mutations and imatinib response in patients with 
RefTitle        metastatic gastrointestinal stromal tumor.
RefLoc          J Clin Oncol 21:4342-4349 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 11021812
RefAuthors      Lasota, J., Wozniak, A., Sarlomo-Rikala, M., Rys, J., 
RefAuthors      Kordek, R., Nassar, A., Sobin, L. H., Miettinen, M.
RefTitle        Mutations in exons 9 and 13 of KIT gene are rare events in 
RefTitle        gastrointestinal stromal tumors. A study of 200 cases.
RefLoc          Am J Pathol 157:1091-1095 (2000)
RefNumber       [10]
RefCrossRef     PUBMED; 15897563
RefAuthors      Tarn, C., Merkel, E., Canutescu, A. A., Shen, W., 
RefAuthors      Skorobogatko, Y., Heslin, M. J., Eisenberg, B., Birbe, R., 
RefAuthors      Patchefsky, A., Dunbrack, R., Arnoletti, J. P., von 
RefAuthors      Mehren, M., Godwin, A. K.
RefTitle        Analysis of KIT mutations in sporadic and familial 
RefTitle        gastrointestinal stromal tumors: therapeutic implications 
RefTitle        through protein modeling.
RefLoc          Clin Cancer Res 11:3668-77
RefNumber       [15]
RefCrossRef     PUBMED; 17504295
RefAuthors      Steigen, S. E., Eide, T. J., Wasag, B., Lasota, J., 
RefAuthors      Miettinen, M.
RefTitle        Mutations in gastrointestinal stromal tumors--a population-
RefTitle        based study from Northern Norway.
RefLoc          APMIS 115:289-98
RefNumber       [20]
RefCrossRef     PUBMED; 18246046
RefAuthors      Lasota, J., Corless, C. L., Heinrich, M. C., Debiec-
RefAuthors      Rychter, M., Sciot, R., Wardelmann, E., Merkelbach-Bruse, 
RefAuthors      S., Schildhaus, H. U., Steigen, S. E., Stachura, J., 
RefAuthors      Wozniak, A., Antonescu, C., Daum, O., Martin, J., Del 
RefAuthors      Muro, J. G., Miettinen, M.
RefTitle        Clinicopathologic profile of gastrointestinal stromal 
RefTitle        tumors (GISTs) with primary KIT exon 13 or exon 17 
RefTitle        mutations: a multicenter study on 54 cases.
RefLoc          Mod Pathol 21:476-84
RefNumber       [32]
RefCrossRef     PUBMED; 15543597
RefAuthors      Vu, H. A., Xinh, P. T., Kikushima, M., Zhu, Y., Tokuhara, 
RefAuthors      M., Tani, M., Shimizu, T., Saito, K., Tokunaga, K., Sato, 
RefAuthors      Y.
RefTitle        A recurrent duodenal gastrointestinal stromal tumor with a 
RefTitle        frameshift mutation resulting in a stop codon in KIT exon 
RefTitle        13.
RefLoc          Genes Chromosomes Cancer 42:179-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71040
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1945
Feature           /codon: aaa -> gaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 642
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Piepaldism
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 9; Patients: 9; Homozygotes: 2
//
ID              KIT_N822H(1); standard; MUTATION; PK
Accession       K00493
Systematic name g.76157A>C, c.2464A>C, r.2464a>c, p.Asn822His
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            16-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 12824897
RefAuthors      Kitamura, Y., Hirota, S., Nishida, T.
RefTitle        Gastrointestinal stromal tumors (GIST): a model for 
RefTitle        molecule-based diagnosis and treatment of solid tumors.
RefLoc          Cancer Sci 94:315-320 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 11719439
RefAuthors      Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. 
RefAuthors      L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., 
RefAuthors      Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, 
RefAuthors      J. A.
RefTitle        KIT activation is a ubiquitous feature of gastrointestinal 
RefTitle        stromal tumors.
RefLoc          Cancer Res 61:8118-8121 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 14645423
RefAuthors      Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, 
RefAuthors      C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., 
RefAuthors      Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, 
RefAuthors      B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, 
RefAuthors      C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A.
RefTitle        Kinase mutations and imatinib response in patients with 
RefTitle        metastatic gastrointestinal stromal tumor.
RefLoc          J Clin Oncol 21:4342-4349 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76157
Feature           /change: a -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2485
Feature           /codon: aat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 822
Feature           /change: N -> H
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_#S715-1(1); standard; MUTATION; PK
Accession       K00494
Systematic name g.74314delA, c.2143delA, r.2143dela, p.Ser715fsX9
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11786393
RefAuthors      Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, 
RefAuthors      G., Aman, P., Kindblom, L. G.
RefTitle        The complexity of KIT gene mutations and chromosome 
RefTitle        rearrangements and their clinical correlation in 
RefTitle        gastrointestinal stromal (pacemaker cell) tumors.
RefLoc          Am J Pathol 160:15-22 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 74314
Feature           /change: -a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2164
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 715
Feature           /change: S -> AIVLMSTWTX
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 7; Patients: 7; Homozygotes: 0
//
ID              KIT_#Y703-2(1); standard; MUTATION; PK
Accession       K00495
Systematic name g.72437delA, c.2108delA, r.2108dela, p.Tyr703fsX21
Description     A frame shift deletion mutation in the exon 14 leading to a
Description     premature stop codon in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11786393
RefAuthors      Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, 
RefAuthors      G., Aman, P., Kindblom, L. G.
RefTitle        The complexity of KIT gene mutations and chromosome 
RefTitle        rearrangements and their clinical correlation in 
RefTitle        gastrointestinal stromal (pacemaker cell) tumors.
RefLoc          Am J Pathol 160:15-22 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 72437
Feature           /change: -a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2129
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 703
Feature           /change: Y -> LRIFCIQRSL PAAIVLMSTW TX
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_R815K(1); standard; MUTATION; PK
Accession       K00496
Systematic name g.76137G>A, c.2444G>A, r.2444g>a, p.Arg815Lys
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jan-2004 (Rel. 2, Created)
Date            29-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12598308
RefAuthors      Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, 
RefAuthors      S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B.
RefTitle        One-step detection of c-kit point mutations using peptide 
RefTitle        nucleic acid-mediated polymerase chain reaction clamping 
RefTitle        and hybridization probes.
RefLoc          Am J Pathol 162:737-746 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76137
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2465
Feature           /codon: aga -> aaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 815
Feature           /change: R -> K
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_K650T(1); standard; MUTATION; PK
Accession       K00497
Systematic name g.13268A>C, c.1949A>C, r.1949a>c, p.Lys650Thr
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            21-Jan-2004 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 12743143
RefAuthors      van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., 
RefAuthors      Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., 
RefAuthors      Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C.
RefTitle        Molecular grading of urothelial cell carcinoma with 
RefTitle        fibroblast growth factor receptor 3 and MIB-1 is superior 
RefTitle        to pathologic grade for the prediction of clinical 
RefTitle        outcome.
RefLoc          J Clin Oncol 21:1912-1921 (2003)
RefNumber       [38]
RefCrossRef     PUBMED; 17585316
RefAuthors      Hafner, C., Hartmann, A., van Oers, J. M., Stoehr, R., 
RefAuthors      Zwarthoff, E. C., Hofstaedter, F., Landthaler, M., Vogt, 
RefAuthors      T.
RefTitle        FGFR3 mutations in seborrheic keratoses are already 
RefTitle        present in flat lesions and associated with age and 
RefTitle        localization.
RefLoc          Mod Pathol 20:895-903
RefNumber       [41]
RefCrossRef     PUBMED; 18583390
RefAuthors      Castro-Feijoo, L., Loidi, L., Vidal, A., Parajes, S., 
RefAuthors      Roson, E., Alvarez, A., Cabanas, P., Barreiro, J., Alonso, 
RefAuthors      A., Dominguez, F., Pombo, M.
RefTitle        Hypochondroplasia and Acanthosis nigricans: a new syndrome 
RefTitle        due to the p.Lys650Thr mutation in the fibroblast growth 
RefTitle        factor receptor 3 gene?
RefLoc          Eur J Endocrinol 159:243-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13268
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1988
Feature           /codon: aag -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 650
Feature           /change: K -> T
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Diagnosis       
Diagnosis       Urothelial cell carcinoma (UCC)
Diagnosis       Hypochondroplasia
Occurrence      Families: 4; Patients: 7; Homozygotes: 0
//
ID              FGFR2_N549H(1); standard; MUTATION; PK
Accession       K00498
Systematic name g.100882A>C, c.1645A>C, r.1645a>c, p.Asn549His
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11781872
RefAuthors      Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., 
RefAuthors      Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, 
RefAuthors      S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, 
RefAuthors      E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
RefTitle        Genomic screening of fibroblast growth-factor receptor 2 
RefTitle        reveals a wide spectrum of mutations in patients with 
RefTitle        syndromic craniosynostosis.
RefLoc          Am J Hum Genet 70:472-486 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 100882
Feature           /change: a -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1824
Feature           /codon: aat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 549
Feature           /change: N -> H
Feature           /domain: PK
Diagnosis       Crouzon syndrome (CS)
Diagnosis       
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              FGFR2_E565G(1); standard; MUTATION; PK
Accession       K00499
Systematic name g.102703A>G, c.1694A>G, r.1694a>g, p.Glu565Gly
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11781872
RefAuthors      Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., 
RefAuthors      Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, 
RefAuthors      S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, 
RefAuthors      E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
RefTitle        Genomic screening of fibroblast growth-factor receptor 2 
RefTitle        reveals a wide spectrum of mutations in patients with 
RefTitle        syndromic craniosynostosis.
RefLoc          Am J Hum Genet 70:472-486 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 102703
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1873
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 565
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Pfeiffer syndrome (PS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              FGFR2_K641R(1); standard; MUTATION; PK
Accession       K00500
Systematic name g.111349A>G, c.1922A>G, r.1922a>g, p.Lys641Arg
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11781872
RefAuthors      Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., 
RefAuthors      Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, 
RefAuthors      S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, 
RefAuthors      E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
RefTitle        Genomic screening of fibroblast growth-factor receptor 2 
RefTitle        reveals a wide spectrum of mutations in patients with 
RefTitle        syndromic craniosynostosis.
RefLoc          Am J Hum Genet 70:472-486 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 111349
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 2101
Feature           /codon: aaa -> aga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 641
Feature           /change: K -> R
Feature           /domain: PK
Diagnosis       Pfeiffer syndrome (PS)
Diagnosis       Pfeiffer syndrome (PS)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              FGFR2_K659N(1); standard; MUTATION; PK
Accession       K00501
Systematic name g.111404G>T, c.1977G>T, r.1977g>u, p.Lys659Asn
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11781872
RefAuthors      Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., 
RefAuthors      Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, 
RefAuthors      S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, 
RefAuthors      E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
RefTitle        Genomic screening of fibroblast growth-factor receptor 2 
RefTitle        reveals a wide spectrum of mutations in patients with 
RefTitle        syndromic craniosynostosis.
RefLoc          Am J Hum Genet 70:472-486 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 111404
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 2156
Feature           /codon: aag -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 659
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Syndromic craniosynostosis
Diagnosis       Crouzon syndrome (CS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR2_G663E(1); standard; MUTATION; PK
Accession       K00502
Systematic name g.111981G>A, c.1988G>A, r.1988g>a, p.Gly663Glu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11781872
RefAuthors      Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., 
RefAuthors      Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, 
RefAuthors      S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, 
RefAuthors      E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
RefTitle        Genomic screening of fibroblast growth-factor receptor 2 
RefTitle        reveals a wide spectrum of mutations in patients with 
RefTitle        syndromic craniosynostosis.
RefLoc          Am J Hum Genet 70:472-486 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 111981
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 2167
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 663
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Pfeiffer syndrome (PS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              FGFR2_R678G(1); standard; MUTATION; PK
Accession       K00503
Systematic name g.112025A>G, c.2032A>G, r.2032a>g, p.Arg678Gly
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11781872
RefAuthors      Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., 
RefAuthors      Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, 
RefAuthors      S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, 
RefAuthors      E. H., Wall, S. A., Muenke, M., Wilkie, A. O.
RefTitle        Genomic screening of fibroblast growth-factor receptor 2 
RefTitle        reveals a wide spectrum of mutations in patients with 
RefTitle        syndromic craniosynostosis.
RefLoc          Am J Hum Genet 70:472-486 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 112025
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 2211
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 678
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Crouzon syndrome (CS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              INSR_G1035V(1); standard; MUTATION; PK
Accession       K00504
Systematic name g.169455G>T, c.3104G>T, r.3104g>u, p.Gly1035Val
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 2544998
RefAuthors      Odawara, M., Kadowaki, T., Yamamoto, R., Shibasaki, Y., 
RefAuthors      Tobe, K., Accili, D., Bevins, C., Mikami, Y., Matsuura, 
RefAuthors      N., Akanuma, Y.
RefTitle        Human diabetes associated with a mutation in the tyrosine 
RefTitle        kinase domain of the insulin receptor.
RefLoc          Science 245:66-68 (1989)
DB CrossRef     OMIM; 147670.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 169455
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3242
Feature           /codon: ggc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1035
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              INSR_A1055V(1); standard; MUTATION; PK
Accession       K00505
Systematic name g.169515C>T, c.3164C>T, r.3164c>u, p.Ala1055Val
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10733238
RefAuthors      Rique, S., Nogues, C., Ibanez, L., Marcos, M. V., 
RefAuthors      Ferragut, J., Carrascosa, A., Potau, N.
RefTitle        Identification of three novel mutations in the insulin 
RefTitle        receptor gene in type A insulin resistant patients.
RefLoc          Clin Genet 57:67-69 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 169515
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3302
Feature           /codon: gcg -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1055
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Insulin resistance, type A
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              INSR_R1119W(1); standard; MUTATION; PK
Accession       K00506
Systematic name g.171999C>T, c.3355C>T, r.3355c>u, p.Arg1119Trp
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9249867
RefAuthors      Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., 
RefAuthors      Pennerath, A., Conteville, P., Magre, J., Besmond, C., 
RefAuthors      Goossens, M., Capeau, J., Amselem, S.
RefTitle        Molecular analysis of the insulin receptor gene for 
RefTitle        prenatal diagnosis of leprechaunism in two families.
RefLoc          Prenat Diagn 17:657-663 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 171999
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3493
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1119
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Leprechaunism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              INSR_I1143T(1); standard; MUTATION; PK
Accession       K00507
Systematic name g.172177T>C, c.3428T>C, r.3428u>c, p.Ile1143Thr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10443650
RefAuthors      Longo, N., Wang, Y., Pasquali, M.
RefTitle        Progressive decline in insulin levels in rabson-mendenhall 
RefTitle        syndrome.
RefLoc          J Clin Endocrinol Metab 84:2623-2629 (1999)
RefNumber       [2]
RefCrossRef     PUBMED; 12023989
RefAuthors      Longo, N., Wang, Y., Smith, S. A., Langley, S. D., 
RefAuthors      DiMeglio, L. A., Giannella-Neto, D.
RefTitle        Genotype-phenotype correlation in inherited severe insulin 
RefTitle        resistance.
RefLoc          Hum Mol Genet 11:1465-1475 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 172177
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3566
Feature           /codon: att -> act; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1143
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       Insulin resistance
Diagnosis       Leprechaunism
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              INSR_R1158W(1); standard; MUTATION; PK
Accession       K00508
Systematic name g.172221C>T, c.3472C>T, r.3472c>u, p.Arg1158Trp
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12023989
RefAuthors      Longo, N., Wang, Y., Smith, S. A., Langley, S. D., 
RefAuthors      DiMeglio, L. A., Giannella-Neto, D.
RefTitle        Genotype-phenotype correlation in inherited severe insulin 
RefTitle        resistance.
RefLoc          Hum Mol Genet 11:1465-1475 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 172221
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3610
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1158
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              INSR_R1201W(1); standard; MUTATION; PK
Accession       K00509
Systematic name g.174214C>T, c.3601C>T, r.3601c>u, p.Arg1201Trp
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9703342
RefAuthors      Whitehead, J. P., Soos, M. A., Jackson, R., Tasic, V., 
RefAuthors      Kocova, M., O'Rahilly, S.
RefTitle        Multiple molecular mechanisms of insulin receptor 
RefTitle        dysfunction in a patient with donohue syndrome.
RefLoc          Diabetes 47:1362-1364 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174214
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3739
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1201
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Leprechaunism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              INSR_E1206K(1); standard; MUTATION; PK
Accession       K00510
Systematic name g.174229G>A, c.3616G>A, r.3616g>a, p.Glu1206Lys
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            22-Jan-2004 (Rel. 2, Created)
Date            22-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9249867
RefAuthors      Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., 
RefAuthors      Pennerath, A., Conteville, P., Magre, J., Besmond, C., 
RefAuthors      Goossens, M., Capeau, J., Amselem, S.
RefTitle        Molecular analysis of the insulin receptor gene for 
RefTitle        prenatal diagnosis of leprechaunism in two families.
RefLoc          Prenat Diagn 17:657-663 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 174229
Feature           /change: g -> a
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3754
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1206
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Leprechaunism
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              RET_R844L(1); standard; MUTATION; PK
Accession       K00511
Systematic name g.43606G>T, c.2531G>T, r.2531g>u, p.Arg844Leu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10826520
RefAuthors      Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, 
RefAuthors      M., Hoppner, W.
RefTitle        A RET double mutation in the germline of a kindred with 
RefTitle        FMTC.
RefLoc          Exp Clin Endocrinol Diabetes 108:128-132 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43606
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2726
Feature           /codon: cgg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 844
Feature           /change: R -> L
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Detected together with V804M (K00030 mutation in
Comment         -!-KinMutBase)
//
ID              RET_R982C(1); standard; MUTATION; PK
Accession       K00512
Systematic name g.48824C>T, c.2944C>T, r.2944c>u, p.Arg982Cys
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 9760196
RefAuthors      Svensson, P. J., Anvret, M., Molander, M. L., 
RefAuthors      Nordenskjold, A.
RefTitle        Phenotypic variation in a family with mutations in two 
RefTitle        hirschsprung-related genes (RET and endothelin receptor 
RefTitle        B).
RefLoc          Hum Genet 103:145-148 (1998)
RefNumber       [2]
RefCrossRef     PUBMED; 10646792
RefAuthors      Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, 
RefAuthors      B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, 
RefAuthors      D., Tam, P. K.
RefTitle        Incidence of RET mutations in patients with hirschsprung's 
RefTitle        disease.
RefLoc          J Pediatr Surg 35:139-42; discussion 1421-3 (2000)
RefNumber       [5]
RefCrossRef     PUBMED; 16171945
RefAuthors      Tengs, T., Lee, J. C., Paez, J. G., Zhao, X., LaFramboise, 
RefAuthors      T., Giannoukos, G., Thomas, R. K.
RefTitle        A transforming MET mutation discovered in non-small cell 
RefTitle        lung cancer using microarray-based resequencing.
RefLoc          Cancer Lett 239:227-33
DB CrossRef     OMIM; 164761.0036
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 48824
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3139
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 982
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Diagnosis       
Occurrence      Families: 6; Patients: 8; Homozygotes: 0
Comment         -!-Lung Cancer
//
ID              RHOK_V380D(1); standard; MUTATION; PK
Accession       K00513
Systematic name g.1247T>A, c.1139T>A, r.1139u>a, p.Val380Asp
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            08-Jun-2011 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 9020843
RefAuthors      Yamamoto, S., Sippel, K. C., Berson, E. L., Dryja, T. P.
RefTitle        Defects in the rhodopsin kinase gene in the oguchi form of 
RefTitle        stationary night blindness.
RefLoc          Nat Genet 15:175-178 (1997)
RefNumber       [6]
RefCrossRef     PUBMED;     17070587
RefAuthors      Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., 
RefAuthors      Kitahara, K.
RefTitle        A novel homozygous GRK1 mutation (P391H) in 2 siblings 
RefTitle        with Oguchi disease with markedly reduced cone responses.
RefLoc          Ophthalmology 114:134-41
DB CrossRef     OMIM; 180381.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RHOK_DNA: 1247
Feature           /change: t -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 1247
Feature           /codon: gtc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RK_HUMAN: 380
Feature           /change: V -> D
Feature           /domain: PK
Diagnosis       Oguchi disease
Occurrence      Families: 5; Patients: 6; Homozygotes: 0
//
ID              AMHR2_#L444-8(1); standard; MUTATION; PK
Accession       K00514
Systematic name g.7064delC, c.1330delC, r.1330delc, p.Leu444fsX36
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mullerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mullerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
DB CrossRef     OMIM; 600956.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U29700: 7064
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1408
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 444
Feature           /change: L -> WAIPLPLMSY GPWQCRRGGV PTSHPPGAAL PQTLMGX
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 11; Patients: 11; Homozygotes: 4
//
ID              AMHR2_H282Q(1); standard; MUTATION; PK
Accession       K00515
Systematic name g.2790T>G, c.846T>G, r.846u>g, p.His282Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mllerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mllerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U29700: 2790
Feature           /change: t -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 924
Feature           /codon: cat -> cag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 282
Feature           /change: H -> Q
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The other allele was K0514 24 bp inframe deletion in exon10
//
ID              AMHR2_D426G(1); standard; MUTATION; PK
Accession       K00516
Systematic name g.6844A>G, c.1277A>G, r.1277a>g, p.Asp426Gly
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mllerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mllerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U29700: 6844
Feature           /change: a -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1355
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 426
Feature           /change: D -> G
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 2; Patients: 2; Homozygotes: 2
//
ID              AMHR2_V458A(1); standard; MUTATION; PK
Accession       K00517
Systematic name g.7107T>C, c.1373T>C, r.1373u>c, p.Val458Ala
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mllerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mllerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U29700: 7107
Feature           /change: t -> c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1451
Feature           /codon: gtg -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 458
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The other allele was K00514 mut. a 24 bp del in exon 10
//
ID              AMHR2_D491H(1); standard; MUTATION; PK
Accession       K00518
Systematic name g.8101G>C, c.1471G>C, r.1471g>c, p.Asp491His
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mllerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mllerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U29700: 8101
Feature           /change: g -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1549
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 491
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The other allele was K00514 mut. a 24 bp del in exon 10
//
ID              AMHR2_R504C(1); standard; MUTATION; PK
Accession       K00519
Systematic name g.8140C>T, c.1510C>T, r.1510c>u, p.Arg504Cys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            26-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mllerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mllerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U29700: 8140
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1588
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 504
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The other allele was K00514 mut. a 24 bp del in exon 10
//
ID              AMHR2_R406Q(1); standard; MUTATION; PK
Accession       K00521
Systematic name g.6784G>A, c.1217G>A, r.1217g>a, p.Arg406Gln
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            26-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 8872466
RefAuthors      Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., 
RefAuthors      di Clemente, N., Josso, N., Picard, J. Y.
RefTitle        A 27 base-pair deletion of the anti-mllerian type II 
RefTitle        receptor gene is the most common cause of the persistent 
RefTitle        mllerian duct syndrome.
RefLoc          Hum Mol Genet 5:1269-1277 (1996)
DB CrossRef     OMIM; 600956.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U29700: 6784
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1295
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AMH2_HUMAN: 406
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Persistent Mllerian duct syndrome, Type II
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              BMPR2_R211X(1); standard; MUTATION; PK
Accession       K00522
Systematic name g.142357C>T, c.631C>T, r.631c>u, p.Arg211X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 11015450
RefAuthors      Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, 
RefAuthors      N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., 
RefAuthors      Mikhail, G., Rogers, P., Newman, J., Wheeler, L., 
RefAuthors      Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., 
RefAuthors      Peacock, A., Allcock, R., Corris, P., Loyd, J. E., 
RefAuthors      Trembath, R. C., Nichols, W. C.
RefTitle        Sporadic primary pulmonary hypertension is associated with 
RefTitle        germline mutations of the gene encoding BMPR-II, a 
RefTitle        receptor member of the TGF-beta family.
RefLoc          J Med Genet 37:741-745 (2000)
RefNumber       [7]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [4]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142357
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1012
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 211
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 5; Patients: 6; Homozygotes: 0
//
ID              BMPR2_#K230X254(1); standard; MUTATION; PK
Accession       K00523
Systematic name g.142415delA, c.689delA, r.689dela, p.Val231fsX20
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 142415
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1070

Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 230
Feature           /change: K -> KCFPLQTVRI LSTKRTFTEC LX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
ID              BMPR2_E243X(1); standard; MUTATION; PK
Accession       K00524
Systematic name g.142453G>T, c.727G>T, r.727g>u, p.Glu243X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
RefNumber       [9]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [4]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142453
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1108
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 243
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 3; Patients: 4; Homozygotes: 0
//
ID              BMPR2_R332X(1); standard; MUTATION; PK
Accession       K00525
Systematic name g.154346C>T, c.994C>T, r.994c>u, p.Arg332X
Description     A point mutation in the exon 8 leading to a premature stop
Description     codon in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 11015450
RefAuthors      Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, 
RefAuthors      N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., 
RefAuthors      Mikhail, G., Rogers, P., Newman, J., Wheeler, L., 
RefAuthors      Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., 
RefAuthors      Peacock, A., Allcock, R., Corris, P., Loyd, J. E., 
RefAuthors      Trembath, R. C., Nichols, W. C.
RefTitle        Sporadic primary pulmonary hypertension is associated with 
RefTitle        germline mutations of the gene encoding BMPR-II, a 
RefTitle        receptor member of the TGF-beta family.
RefLoc          J Med Genet 37:741-745 (2000)
RefNumber       [8]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [15]
RefCrossRef     PUBMED; 15965979
RefAuthors      Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., 
RefAuthors      Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., 
RefAuthors      Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen-
RefAuthors      Sokolowski, A., Trembath, R. C., Laitinen, T.
RefTitle        BMPR2 mutations have short lifetime expectancy in primary 
RefTitle        pulmonary hypertension.
RefLoc          Hum Mutat 26:119-24
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
DB CrossRef     OMIM; 600799.0017
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154346
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1375
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 332
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 6; Patients: 15; Homozygotes: 0
//
ID              BMPR2_#T359X374(1); standard; MUTATION; PK
Accession       K00526
Systematic name g.154428delC, c.1076delC, r.1076delc, p.Thr359fsX15
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 154428
Feature           /change: -c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1457
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 359
Feature           /change: T -> MEIDWCAQGR KIMQPX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              BMPR2_C397X(1); standard; MUTATION; PK
Accession       K00527
Systematic name g.156173delT, c.1191delT, r.1191delu, p.Cys397fsX4
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            27-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156173
Feature           /change: -t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1572
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 397
Feature           /change: C -> WNQLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BMPR2_C420R(1); standard; MUTATION; PK
Accession       K00528
Systematic name g.156240T>C, c.1258T>C, r.1258u>c, p.Cys420Arg
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            27-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11115378
RefAuthors      Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. 
RefAuthors      B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, 
RefAuthors      J., Williams, D., Galie, N., Manes, A., McNeil, K., 
RefAuthors      Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, 
RefAuthors      M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. 
RefAuthors      E., Trembath, R. C., Nichols, W. C.
RefTitle        BMPR2 haploinsufficiency as the inherited molecular 
RefTitle        mechanism for primary pulmonary hypertension.
RefLoc          Am J Hum Genet 68:92-102 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156240
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1639
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 420
Feature           /change: C -> R
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              BMPR2_R491W(1); standard; MUTATION; PK
Accession       K00529
Systematic name g.176299C>T, c.1471C>T, r.1471c>u, p.Arg491Trp
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 10903931
RefAuthors      Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, 
RefAuthors      K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, 
RefAuthors      S. G., Barst, R. J., Hodge, S. E., Knowles, J. A.
RefTitle        Familial primary pulmonary hypertension (gene PPH1) is 
RefTitle        caused by mutations in the bone morphogenetic protein 
RefTitle        receptor-II gene.
RefLoc          Am J Hum Genet 67:737-744 (2000)
RefNumber       [5]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
RefNumber       [7]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
RefNumber       [6]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [6]
RefCrossRef     PUBMED; 14985116
RefAuthors      Zhicheng, J., Lihe, L., Zhiyan, H., Xiansheng, C., Yubao, 
RefAuthors      Z., Yuejin, Y., Rutai, H.
RefTitle        Bone morphogenetic protein receptor-II mutation Arg491Trp 
RefTitle        causes malignant phenotype of familial primary pulmonary 
RefTitle        hypertension.
RefLoc          Biochem Biophys Res Commun 315:1033-8
DB CrossRef     OMIM; 600799.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176299
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1852
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 491
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 11; Patients: 23; Homozygotes: 0
//
ID              BMPR2_#G367X369(1); standard; MUTATION; PK
Accession       K00530
Systematic name g.154451delG, c.1099delG, r.1099delg, p.Glu368fsX6
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10903931
RefAuthors      Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, 
RefAuthors      K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, 
RefAuthors      S. G., Barst, R. J., Hodge, S. E., Knowles, J. A.
RefTitle        Familial primary pulmonary hypertension (gene PPH1) is 
RefTitle        caused by mutations in the bone morphogenetic protein 
RefTitle        receptor-II gene.
RefLoc          Am J Hum Genet 67:737-744 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [4]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
DB CrossRef     OMIM; 600799.0009
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 154451
Feature           /change: -g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1480
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 367
Feature           /change: G -> GRKIMQPX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 3; Patients: 4; Homozygotes: 0
//
ID              BMPR2_R491Q(1); standard; MUTATION; PK
Accession       K00531
Systematic name g.176300G>A, c.1472G>A, r.1472g>a, p.Arg491Gln
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 10903931
RefAuthors      Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, 
RefAuthors      K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, 
RefAuthors      S. G., Barst, R. J., Hodge, S. E., Knowles, J. A.
RefTitle        Familial primary pulmonary hypertension (gene PPH1) is 
RefTitle        caused by mutations in the bone morphogenetic protein 
RefTitle        receptor-II gene.
RefLoc          Am J Hum Genet 67:737-744 (2000)
RefNumber       [14]
RefCrossRef     PUBMED; 15965979
RefAuthors      Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., 
RefAuthors      Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., 
RefAuthors      Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen-
RefAuthors      Sokolowski, A., Trembath, R. C., Laitinen, T.
RefTitle        BMPR2 mutations have short lifetime expectancy in primary 
RefTitle        pulmonary hypertension.
RefLoc          Hum Mutat 26:119-24
RefNumber       [3]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [8]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
RefNumber       [7]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
DB CrossRef     OMIM; 600799.0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176300
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1853
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 491
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 7; Patients: 7; Homozygotes: 0
//
ID              BMPR2_#K230X251(1); standard; MUTATION; PK
Accession       K00532
Systematic name g.142416A>T, c.690A>T, r.690a>u, p.Lys230Asn
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 10903931
RefAuthors      Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, 
RefAuthors      K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, 
RefAuthors      S. G., Barst, R. J., Hodge, S. E., Knowles, J. A.
RefTitle        Familial primary pulmonary hypertension (gene PPH1) is 
RefTitle        caused by mutations in the bone morphogenetic protein 
RefTitle        receptor-II gene.
RefLoc          Am J Hum Genet 67:737-744 (2000)
RefNumber       [17]
RefCrossRef     PUBMED; 18503968
RefAuthors      Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. 
RefAuthors      K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, 
RefAuthors      N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J.
RefTitle        Clinical implications of determining BMPR2 mutation status 
RefTitle        in a large cohort of children and adults with pulmonary 
RefTitle        arterial hypertension.
RefLoc          J Heart Lung Transplant 27:668-74
RefNumber       [3]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [5]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
DB CrossRef     OMIM; 600799.0014
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142416
Feature           /change: a -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1071
Feature           /codon: aaa -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 230
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 4; Patients: 5; Homozygotes: 0
//
ID              BMPR2_D485G(1); standard; MUTATION; PK
Accession       K00533
Systematic name g.176282A>G, c.1454A>G, r.1454a>g, p.Asp485Gly
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10973254
RefAuthors      Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. 
RefAuthors      R., Phillips, J. A., Loyd, J. E., Nichols, W. C., 
RefAuthors      Trembath, R. C.
RefTitle        Heterozygous germline mutations in BMPR2, encoding a TGF-
RefTitle        beta receptor, cause familial primary pulmonary 
RefTitle        hypertension. the international PPH consortium.
RefLoc          Nat Genet 26:81-84 (2000)
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
DB CrossRef     OMIM; 600799.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176282
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1835
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 485
Feature           /change: D -> G
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              BMPR2_C347Y(1); standard; MUTATION; PK
Accession       K00534
Systematic name g.154392G>A, c.1040G>A, r.1040g>a, p.Cys347Tyr
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10973254
RefAuthors      Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. 
RefAuthors      R., Phillips, J. A., Loyd, J. E., Nichols, W. C., 
RefAuthors      Trembath, R. C.
RefTitle        Heterozygous germline mutations in BMPR2, encoding a TGF-
RefTitle        beta receptor, cause familial primary pulmonary 
RefTitle        hypertension. the international PPH consortium.
RefLoc          Nat Genet 26:81-84 (2000)
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
DB CrossRef     OMIM; 600799.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154392
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1421
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 347
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              BMPR2_@G263X265(1); standard; MUTATION; PK
Accession       K00535
Systematic name g.142512dupT, c.786dupT, r.786dupu, p.Gly263fsX2
Description     A frame shift duplication mutation in the exon 6 leading to
Description     a premature stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            30-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11015450
RefAuthors      Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, 
RefAuthors      N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., 
RefAuthors      Mikhail, G., Rogers, P., Newman, J., Wheeler, L., 
RefAuthors      Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., 
RefAuthors      Peacock, A., Allcock, R., Corris, P., Loyd, J. E., 
RefAuthors      Trembath, R. C., Nichols, W. C.
RefTitle        Sporadic primary pulmonary hypertension is associated with 
RefTitle        germline mutations of the gene encoding BMPR-II, a 
RefTitle        receptor member of the TGF-beta family.
RefLoc          J Med Genet 37:741-745 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 142513
Feature           /change: +t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1168
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 263
Feature           /change: G -> WRX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#I416X418(1); standard; MUTATION; PK
Accession       K00536
Systematic name g.156230delA, c.1248delA, r.1248dela, p.Phe417fsX1
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11015450
RefAuthors      Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, 
RefAuthors      N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., 
RefAuthors      Mikhail, G., Rogers, P., Newman, J., Wheeler, L., 
RefAuthors      Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., 
RefAuthors      Peacock, A., Allcock, R., Corris, P., Loyd, J. E., 
RefAuthors      Trembath, R. C., Nichols, W. C.
RefTitle        Sporadic primary pulmonary hypertension is associated with 
RefTitle        germline mutations of the gene encoding BMPR-II, a 
RefTitle        receptor member of the TGF-beta family.
RefLoc          J Med Genet 37:741-745 (2000)
RefNumber       [12]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [4]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156230
Feature           /change: -a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1629
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 416
Feature           /change: I -> ILX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BMPR2_@I416X419(1); standard; MUTATION; PK
Accession       K00537
Systematic name g.156228_156229insG, c.1246_1247insG, r.1246_1247insg,
Systematic name p.Ile416fsX31
Description     A frame shift insertion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11015450
RefAuthors      Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, 
RefAuthors      N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., 
RefAuthors      Mikhail, G., Rogers, P., Newman, J., Wheeler, L., 
RefAuthors      Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., 
RefAuthors      Peacock, A., Allcock, R., Corris, P., Loyd, J. E., 
RefAuthors      Trembath, R. C., Nichols, W. C.
RefTitle        Sporadic primary pulmonary hypertension is associated with 
RefTitle        germline mutations of the gene encoding BMPR-II, a 
RefTitle        receptor member of the TGF-beta family.
RefLoc          J Med Genet 37:741-745 (2000)
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156229
Feature           /change: +g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1628
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 416
Feature           /change: I -> SIYEMYRPLP RGIRTRVPDG FSDRGWKPSH FX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_C483R(1); standard; MUTATION; PK
Accession       K00538
Systematic name g.176275T>C, c.1447T>C, r.1447u>c, p.Cys483Arg
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11015450
RefAuthors      Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, 
RefAuthors      N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., 
RefAuthors      Mikhail, G., Rogers, P., Newman, J., Wheeler, L., 
RefAuthors      Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., 
RefAuthors      Peacock, A., Allcock, R., Corris, P., Loyd, J. E., 
RefAuthors      Trembath, R. C., Nichols, W. C.
RefTitle        Sporadic primary pulmonary hypertension is associated with 
RefTitle        germline mutations of the gene encoding BMPR-II, a 
RefTitle        receptor member of the TGF-beta family.
RefLoc          J Med Genet 37:741-745 (2000)
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176275
Feature           /change: t -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1828
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 483
Feature           /change: C -> R
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_R273X(1); standard; MUTATION; PK
Accession       K00539
Systematic name g.161628C>T, c.817C>T, r.817c>u, p.Arg273X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            30-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11536076
RefAuthors      Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, 
RefAuthors      K., Aldred, M., Hampel, H., Launonen, V., Virta, S., 
RefAuthors      Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., 
RefAuthors      Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., 
RefAuthors      Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., 
RefAuthors      Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, 
RefAuthors      P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., 
RefAuthors      Eng, C.
RefTitle        Germline mutations in BMPR1A/ALK3 cause a subset of cases 
RefTitle        of juvenile polyposis syndrome and of cowden and bannayan-
RefTitle        riley-ruvalcaba syndromes.
RefLoc          Am J Hum Genet 69:704-711 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161628
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1126
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 273
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_R361X(1); standard; MUTATION; PK
Accession       K00540
Systematic name g.163737C>T, c.1081C>T, r.1081c>u, p.Arg361X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            30-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11536076
RefAuthors      Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, 
RefAuthors      K., Aldred, M., Hampel, H., Launonen, V., Virta, S., 
RefAuthors      Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., 
RefAuthors      Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., 
RefAuthors      Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., 
RefAuthors      Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, 
RefAuthors      P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., 
RefAuthors      Eng, C.
RefTitle        Germline mutations in BMPR1A/ALK3 cause a subset of cases 
RefTitle        of juvenile polyposis syndrome and of cowden and bannayan-
RefTitle        riley-ruvalcaba syndromes.
RefLoc          Am J Hum Genet 69:704-711 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163737
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1390
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 361
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_A338D(1); standard; MUTATION; PK
Accession       K00541
Systematic name g.163669C>A, c.1013C>A, r.1013c>a, p.Ala338Asp
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11536076
RefAuthors      Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, 
RefAuthors      K., Aldred, M., Hampel, H., Launonen, V., Virta, S., 
RefAuthors      Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., 
RefAuthors      Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., 
RefAuthors      Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., 
RefAuthors      Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, 
RefAuthors      P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., 
RefAuthors      Eng, C.
RefTitle        Germline mutations in BMPR1A/ALK3 cause a subset of cases 
RefTitle        of juvenile polyposis syndrome and of cowden and bannayan-
RefTitle        riley-ruvalcaba syndromes.
RefLoc          Am J Hum Genet 69:704-711 (2001)
DB CrossRef     OMIM; 601299.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163669
Feature           /change: c -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1322
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 338
Feature           /change: A -> D
Feature           /domain: PK
Diagnosis       Cowden-like syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_C376Y(1); standard; MUTATION; PK
Accession       K00542
Systematic name g.163783G>A, c.1127G>A, r.1127g>a, p.Cys376Tyr
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11536076
RefAuthors      Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, 
RefAuthors      K., Aldred, M., Hampel, H., Launonen, V., Virta, S., 
RefAuthors      Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., 
RefAuthors      Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., 
RefAuthors      Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., 
RefAuthors      Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, 
RefAuthors      P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., 
RefAuthors      Eng, C.
RefTitle        Germline mutations in BMPR1A/ALK3 cause a subset of cases 
RefTitle        of juvenile polyposis syndrome and of cowden and bannayan-
RefTitle        riley-ruvalcaba syndromes.
RefLoc          Am J Hum Genet 69:704-711 (2001)
DB CrossRef     OMIM; 601299.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163783
Feature           /change: g -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1436
Feature           /codon: tgc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 376
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_Q239X(1); standard; MUTATION; PK
Accession       K00543
Systematic name g.161526C>T, c.715C>T, r.715c>u, p.Gln239X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11381269
RefAuthors      Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., 
RefAuthors      Mitros, F. A., Petersen, G. M., Velculescu, V. E., 
RefAuthors      Traverso, G., Vogelstein, B.
RefTitle        Germline mutations of the gene encoding bone morphogenetic 
RefTitle        protein receptor 1A in juvenile polyposis.
RefLoc          Nat Genet 28:184-187 (2001)
DB CrossRef     OMIM; 601299.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161526
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1024
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 239
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 8; Homozygotes: 0
//
ID              BMPR1A_W271X(1); standard; MUTATION; PK
Accession       K00544
Systematic name g.161623G>A, c.812G>A, r.812g>a, p.Trp271X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11381269
RefAuthors      Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., 
RefAuthors      Mitros, F. A., Petersen, G. M., Velculescu, V. E., 
RefAuthors      Traverso, G., Vogelstein, B.
RefTitle        Germline mutations of the gene encoding bone morphogenetic 
RefTitle        protein receptor 1A in juvenile polyposis.
RefLoc          Nat Genet 28:184-187 (2001)
DB CrossRef     OMIM; 601299.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161623
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1121
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 271
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 6; Homozygotes: 0
//
ID              BMPR1A_L321X(1); standard; MUTATION; PK
Accession       K00545
Systematic name g.163617delC, c.961delC, r.961delc, p.Leu321X
Description     A deletion mutation in the exon 10 leading to a premature
Description     stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11381269
RefAuthors      Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., 
RefAuthors      Mitros, F. A., Petersen, G. M., Velculescu, V. E., 
RefAuthors      Traverso, G., Vogelstein, B.
RefTitle        Germline mutations of the gene encoding bone morphogenetic 
RefTitle        protein receptor 1A in juvenile polyposis.
RefLoc          Nat Genet 28:184-187 (2001)
DB CrossRef     OMIM; 601299.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163617
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1270
Feature           /codon: ctg -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 321
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 5; Homozygotes: 0
//
ID              BMPR1A_#V262X275(1); standard; MUTATION; PK
Accession       K00546
Systematic name g.161595delG, c.784delG, r.784delg, p.Val262fsX20
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            30-Jan-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11536076
RefAuthors      Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, 
RefAuthors      K., Aldred, M., Hampel, H., Launonen, V., Virta, S., 
RefAuthors      Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., 
RefAuthors      Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., 
RefAuthors      Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., 
RefAuthors      Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, 
RefAuthors      P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., 
RefAuthors      Eng, C.
RefTitle        Germline mutations in BMPR1A/ALK3 cause a subset of cases 
RefTitle        of juvenile polyposis syndrome and of cowden and bannayan-
RefTitle        riley-ruvalcaba syndromes.
RefLoc          Am J Hum Genet 69:704-711 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161595
Feature           /change: -g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1093
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 262
Feature           /change: V -> YSLPLKKPAG FEKQKSTKLC X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#E276X285(1); standard; MUTATION; PK
Accession       K00547
Systematic name g.161637delG, c.826delG, r.826delg, p.Glu276fsX6
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            30-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11536076
RefAuthors      Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, 
RefAuthors      K., Aldred, M., Hampel, H., Launonen, V., Virta, S., 
RefAuthors      Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., 
RefAuthors      Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., 
RefAuthors      Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., 
RefAuthors      Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, 
RefAuthors      P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., 
RefAuthors      Eng, C.
RefTitle        Germline mutations in BMPR1A/ALK3 cause a subset of cases 
RefTitle        of juvenile polyposis syndrome and of cowden and bannayan-
RefTitle        riley-ruvalcaba syndromes.
RefLoc          Am J Hum Genet 69:704-711 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161637
Feature           /change: -g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1135
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 276
Feature           /change: E -> KSTKLCX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_E768D(2); standard; MUTATION; PK
Accession       K00548
Systematic name g.42329G>T, c.2304G>T, r.2304g>u, p.Glu768Asp
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 14718397
RefAuthors      Kruckeberg, K. E., Thibodeau, S. N.
RefTitle        Pyrosequencing technology as a method for the diagnosis of 
RefTitle        multiple endocrine neoplasia type 2.
RefLoc          Clin Chem : ()
DB CrossRef     OMIM; 164761.0027
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42329
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2499
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 768
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_V804L(2); standard; MUTATION; PK
Accession       K00549
Systematic name g.43485G>C, c.2410G>C, r.2410g>c, p.Val804Leu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            30-Jan-2004 (Rel. 2, Created)
Date            30-Jan-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14718397
RefAuthors      Kruckeberg, K. E., Thibodeau, S. N.
RefTitle        Pyrosequencing technology as a method for the diagnosis of 
RefTitle        multiple endocrine neoplasia type 2.
RefLoc          Clin Chem : ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43485
Feature           /change: g -> c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605
Feature           /codon: gtg -> ctg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 804
Feature           /change: V -> L
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_S795R(1); standard; MUTATION; PK
Accession       K00550
Systematic name g.42410C>A, c.2385C>A, r.2385c>a, p.Ser795Arg
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            02-Feb-2004 (Rel. 2, Created)
Date            02-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10646792
RefAuthors      Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, 
RefAuthors      B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, 
RefAuthors      D., Tam, P. K.
RefTitle        Incidence of RET mutations in patients with hirschsprung's 
RefTitle        disease.
RefLoc          J Pediatr Surg 35:139-42; discussion 1421-3 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42410
Feature           /change: c -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2580
Feature           /codon: agc -> aga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 795
Feature           /change: S -> R
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_S922P(1); standard; MUTATION; PK
Accession       K00551
Systematic name g.45916T>C, c.2764T>C, r.2764u>c, p.Ser922Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            02-Feb-2004 (Rel. 2, Created)
Date            02-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14618242
RefAuthors      Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., 
RefAuthors      Bendlova, B.
RefTitle        The newly detected mutations in the RET proto-oncogene in 
RefTitle        exon 16 as a cause of sporadic medullary thyroid 
RefTitle        carcinoma.
RefLoc          J Mol Med 81:819-823 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45916
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2959
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 922
Feature           /change: S -> P
Feature           /domain: PK
Diagnosis       Sporadic medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
Comment         -!-Loss of heterozygosity detected
//
ID              RET_T930M(1); standard; MUTATION; PK
Accession       K00552
Systematic name g.45941C>T, c.2789C>T, r.2789c>u, p.Thr930Met
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            02-Feb-2004 (Rel. 2, Created)
Date            02-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14618242
RefAuthors      Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., 
RefAuthors      Bendlova, B.
RefTitle        The newly detected mutations in the RET proto-oncogene in 
RefTitle        exon 16 as a cause of sporadic medullary thyroid 
RefTitle        carcinoma.
RefLoc          J Mol Med 81:819-823 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45941
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2984
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 930
Feature           /change: T -> M
Feature           /domain: PK
Diagnosis       Sporadic medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_G849S(1); standard; MUTATION; PK
Accession       K00553
Systematic name g.43620G>A, c.2545G>A, r.2545g>a, p.Gly849Ser
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12632375
RefAuthors      Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., 
RefAuthors      Hollwarth, M. E., Green, A., Puri, P.
RefTitle        Mutation analysis of the RET gene in total intestinal 
RefTitle        aganglionosis by wave DNA fragment analysis system.
RefLoc          J Pediatr Surg 38:497-501 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43620
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2740
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 849
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Detected together with G667S, L746L, S880S
//
ID              RET_R873X(1); standard; MUTATION; PK
Accession       K00554
Systematic name g.44027C>T, c.2617C>T, r.2617c>u, p.Arg873Trp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12632375
RefAuthors      Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., 
RefAuthors      Hollwarth, M. E., Green, A., Puri, P.
RefTitle        Mutation analysis of the RET gene in total intestinal 
RefTitle        aganglionosis by wave DNA fragment analysis system.
RefLoc          J Pediatr Surg 38:497-501 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44027
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2812
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 873
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Detected together with G667S
//
ID              RET_P841L(1); standard; MUTATION; PK
Accession       K00555
Systematic name g.43597C>T, c.2522C>T, r.2522c>u, p.Pro841Leu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12566528
RefAuthors      Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., 
RefAuthors      Roesner, D., Schackert, H. K.
RefTitle        Association of germline mutations and polymorphisms of the 
RefTitle        RET proto-oncogene with idiopathic congenital central 
RefTitle        hypoventilation syndrome in 33 patients.
RefLoc          J Med Genet 40:E10 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43597
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2717
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 841
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The patients was affected in congenital central
Comment         -!-hypoventilation syndrome (CCHS) too
//
ID              STK11_I177N(1); standard; MUTATION; PK
Accession       K00556
Systematic name g.14525T>A, c.530T>A, r.530u>a, p.Ile177Asn
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12112668
RefAuthors      Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., 
RefAuthors      Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., 
RefAuthors      Piepoli, A., Grammatico, P., Guanti, G.
RefTitle        Two novel mutations and a new STK11/LKB1 gene isoform in 
RefTitle        peutz-jeghers patients.
RefLoc          Hum Mutat 20:78-79 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14525
Feature           /change: t -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 868
Feature           /codon: atc -> aac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 177
Feature           /change: I -> N
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_R304W(1); standard; MUTATION; PK
Accession       K00557
Systematic name g.16083C>T, c.910C>T, r.910c>u, p.Arg304Trp
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [1]
RefCrossRef     PUBMED; 12112668
RefAuthors      Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., 
RefAuthors      Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., 
RefAuthors      Piepoli, A., Grammatico, P., Guanti, G.
RefTitle        Two novel mutations and a new STK11/LKB1 gene isoform in 
RefTitle        peutz-jeghers patients.
RefLoc          Hum Mutat 20:78-79 (2002)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [7]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
RefNumber       [6]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
RefNumber       [6]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 16083
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1248
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 304
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 7; Patients: 10; Homozygotes: 0
//
ID              STK11_L160P(1); standard; MUTATION; PK
Accession       K00558
Systematic name g.14474T>C, c.479T>C, r.479u>c, p.Leu160Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12533684
RefAuthors      Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., 
RefAuthors      Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., 
RefAuthors      Konishi, I., Fujii, S.
RefTitle        Mutations in the STK11 gene characterize minimal deviation 
RefTitle        adenocarcinoma of the uterine cervix.
RefLoc          Lab Invest 83:35-45 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14474
Feature           /change: t -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 817
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 160
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Minimal deviation adenocarcinoma (MDA)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_F231L(1); standard; MUTATION; PK
Accession       K00559
Systematic name g.14761T>C, c.691T>C, r.691u>c, p.Phe231Leu
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            03-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12533684
RefAuthors      Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., 
RefAuthors      Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., 
RefAuthors      Konishi, I., Fujii, S.
RefTitle        Mutations in the STK11 gene characterize minimal deviation 
RefTitle        adenocarcinoma of the uterine cervix.
RefLoc          Lab Invest 83:35-45 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14761
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1029
Feature           /codon: ttc -> ctc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 231
Feature           /change: F -> L
Feature           /domain: PK
Diagnosis       Minimal deviation adenocarcinoma (MDA)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_V66M(1); standard; MUTATION; PK
Accession       K00560
Systematic name g.1196G>A, c.196G>A, r.196g>a, p.Val66Met
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            03-Feb-2004 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12533684
RefAuthors      Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., 
RefAuthors      Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., 
RefAuthors      Konishi, I., Fujii, S.
RefTitle        Mutations in the STK11 gene characterize minimal deviation 
RefTitle        adenocarcinoma of the uterine cervix.
RefLoc          Lab Invest 83:35-45 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1196
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 534
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 66
Feature           /change: V -> M
Feature           /domain: PK
Diagnosis       Minimal deviation adenocarcinoma (MDA)
Diagnosis       
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              TGFBR2_V250A(1); standard; MUTATION; PK
Accession       K00561
Systematic name g.66055T>C, c.749T>C, r.749u>c, p.Val250Ala
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            04-Feb-2004 (Rel. 2, Created)
Date            04-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9395234
RefAuthors      Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, 
RefAuthors      D. E., Weghorst, C. M.
RefTitle        Mutation and downregulation of the transforming growth 
RefTitle        factor beta type II receptor gene in primary squamous cell 
RefTitle        carcinomas of the head and neck.
RefLoc          Carcinogenesis 18:2285-2290 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66055
Feature           /change: t -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2321
Feature           /codon: gtg -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 250
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_Y448C(1); standard; MUTATION; PK
Accession       K00562
Systematic name g.68316A>G, c.1343A>G, r.1343a>g, p.Tyr448Cys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            04-Feb-2004 (Rel. 2, Created)
Date            04-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9395234
RefAuthors      Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, 
RefAuthors      D. E., Weghorst, C. M.
RefTitle        Mutation and downregulation of the transforming growth 
RefTitle        factor beta type II receptor gene in primary squamous cell 
RefTitle        carcinomas of the head and neck.
RefLoc          Carcinogenesis 18:2285-2290 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68316
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2915
Feature           /codon: tac -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 448
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_K488E(1); standard; MUTATION; PK
Accession       K00563
Systematic name g.82572A>G, c.1462A>G, r.1462a>g, p.Lys488Glu
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            04-Feb-2004 (Rel. 2, Created)
Date            04-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9395234
RefAuthors      Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, 
RefAuthors      D. E., Weghorst, C. M.
RefTitle        Mutation and downregulation of the transforming growth 
RefTitle        factor beta type II receptor gene in primary squamous cell 
RefTitle        carcinomas of the head and neck.
RefLoc          Carcinogenesis 18:2285-2290 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82572
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3034
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 488
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_M373I(1); standard; MUTATION; PK
Accession       K00564
Systematic name g.66425G>T, c.1119G>T, r.1119g>u, p.Met373Ile
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            04-Feb-2004 (Rel. 2, Created)
Date            04-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9395234
RefAuthors      Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, 
RefAuthors      D. E., Weghorst, C. M.
RefTitle        Mutation and downregulation of the transforming growth 
RefTitle        factor beta type II receptor gene in primary squamous cell 
RefTitle        carcinomas of the head and neck.
RefLoc          Carcinogenesis 18:2285-2290 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66425
Feature           /change: g -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2691
Feature           /codon: atg -> att; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 373
Feature           /change: M -> I
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_S401F(1); standard; MUTATION; PK
Accession       K00565
Systematic name g.66508C>T, c.1202C>T, r.1202c>u, p.Ser401Phe
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            04-Feb-2004 (Rel. 2, Created)
Date            04-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9395234
RefAuthors      Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, 
RefAuthors      D. E., Weghorst, C. M.
RefTitle        Mutation and downregulation of the transforming growth 
RefTitle        factor beta type II receptor gene in primary squamous cell 
RefTitle        carcinomas of the head and neck.
RefLoc          Carcinogenesis 18:2285-2290 (1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66508
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2774
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 401
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Head and neck squamous carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PAK3_A365E(1); standard; MUTATION; PK
Accession       K00566
Systematic name g.72299C>A, c.1094C>A, r.1094c>a, p.Ala365Glu
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12884430
RefAuthors      Gedeon, A. K., Nelson, J., Gecz, J., Mulley, J. C.
RefTitle        X-linked mild non-syndromic mental retardation with 
RefTitle        neuropsychiatric problems and the missense mutation A365E 
RefTitle        in PAK3.
RefLoc          Am J Med Genet 120A:509-517 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PAK3_DNA: 72299
Feature           /change: c -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF068864; GI:6174887; AF068864: 1094
Feature           /codon: gca -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PAK3_HUMAN: 365
Feature           /change: A -> E
Feature           /domain: PK
Diagnosis       X-linked nonsyndromic mental retardation (MRX)
Diagnosis       X-linked nonsyndromic mental retardation (MRX)
Occurrence      Families: 2; Patients: 38; Homozygotes: 0
//
ID              FLT3_D835Y(1); standard; MUTATION; PK
Accession       K00567
Systematic name g.53109G>T, c.2503G>T, r.2503g>u, p.Asp835Tyr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 13)
RefNumber       [1]
RefCrossRef     PUBMED; 11290608
RefAuthors      Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, 
RefAuthors      Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., 
RefAuthors      Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., 
RefAuthors      Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, 
RefAuthors      R., Ohno, R., Naoe, T.
RefTitle        Activating mutation of D835 within the activation loop of 
RefTitle        FLT3 in human hematologic malignancies.
RefLoc          Blood 97:2434-2439 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 12239147
RefAuthors      Kottaridis, P. D., Gale, R. E., Langabeer, S. E., Frew, M. 
RefAuthors      E., Bowen, D. T., Linch, D. C.
RefTitle        Studies of FLT3 mutations in paired presentation and 
RefTitle        relapse samples from patients with acute myeloid leukemia: 
RefTitle        implications for the role of FLT3 mutations in 
RefTitle        leukemogenesis, minimal residual disease detection, and 
RefTitle        possible therapy with FLT3 inhibitors.
RefLoc          Blood 100:2393-2398 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 12551822
RefAuthors      Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, 
RefAuthors      E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, 
RefAuthors      J., Torres, A., Sanz, M. A.
RefTitle        Incidence and prognostic value of FLT3 internal tandem 
RefTitle        duplication and D835 mutations in acute myeloid leukemia.
RefLoc          Haematologica 88:19-24 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 12692519
RefAuthors      Sheikhha, M. H., Awan, A., Tobal, K., Liu Yin, J. A.
RefTitle        Prognostic significance of FLT3 ITD and D835 mutations in 
RefTitle        AML patients.
RefLoc          Hematol J 4:41-46 (2003)
RefNumber       [5]
RefCrossRef     PUBMED; 12750701
RefAuthors      Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen, 
RefAuthors      S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H.
RefTitle        FLT3-TKD mutation in childhood acute myeloid leukemia.
RefLoc          Leukemia 17:883-886 (2003)
RefNumber       [6]
RefCrossRef     PUBMED; 14630076
RefAuthors      Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C., 
RefAuthors      Brunet, S., Aventin, A., Sierra, J.
RefTitle        FLT3 mutations are associated with other molecular lesions 
RefTitle        in AML.
RefLoc          Leuk Res 28:19-23 (2004)
RefNumber       [7]
RefCrossRef     PUBMED; 11442493
RefAuthors      Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. 
RefAuthors      S., Peake, I. R., Reilly, J. T.
RefTitle        Identification of novel FLT-3 asp835 mutations in adult 
RefTitle        acute myeloid leukaemia.
RefLoc          Br J Haematol 113:983-988 (2001)
RefNumber       [8]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
RefNumber       [9]
RefCrossRef     PUBMED; 14737077
RefAuthors      Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. 
RefAuthors      L., Dunn, P., Kuo, M. C.
RefTitle        Acquisition of FLT3 or N-ras mutations is frequently 
RefTitle        associated with progression of myelodysplastic syndrome to 
RefTitle        acute myeloid leukemia.
RefLoc          Leukemia 18:466-475 (2004)
RefNumber       [11]
RefCrossRef     PUBMED; 17943971
RefAuthors      Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., 
RefAuthors      Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., 
RefAuthors      Fioretos, T.
RefTitle        FLT3 mutations in a 10 year consecutive series of 177 
RefTitle        childhood acute leukemias and their impact on global gene 
RefTitle        expression patterns.
RefLoc          Genes Chromosomes Cancer 47:64-70
RefNumber       [13]
RefCrossRef     PUBMED; 20875128
RefAuthors      Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., 
RefAuthors      Buffler, P., Wiemels, J.
RefTitle        FLT3 mutation incidence and timing of origin in a 
RefTitle        population case series of pediatric leukemia.
RefLoc          BMC Cancer 10:513
DB CrossRef     OMIM; 136351.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53109
Feature           /change: g -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Diagnosis       Myelodysplastic syndrome
Occurrence      Families: 82; Patients: 82; Homozygotes: 0
Comment         -!-Pediatric Leukemia
//
ID              FLT3_D835V(1); standard; MUTATION; PK
Accession       K00568
Systematic name g.53110A>T, c.2504A>T, r.2504a>u, p.Asp835Val
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED; 11290608
RefAuthors      Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, 
RefAuthors      Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., 
RefAuthors      Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., 
RefAuthors      Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, 
RefAuthors      R., Ohno, R., Naoe, T.
RefTitle        Activating mutation of D835 within the activation loop of 
RefTitle        FLT3 in human hematologic malignancies.
RefLoc          Blood 97:2434-2439 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 12551822
RefAuthors      Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, 
RefAuthors      E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, 
RefAuthors      J., Torres, A., Sanz, M. A.
RefTitle        Incidence and prognostic value of FLT3 internal tandem 
RefTitle        duplication and D835 mutations in acute myeloid leukemia.
RefLoc          Haematologica 88:19-24 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 12750701
RefAuthors      Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen, 
RefAuthors      S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H.
RefTitle        FLT3-TKD mutation in childhood acute myeloid leukemia.
RefLoc          Leukemia 17:883-886 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 14630076
RefAuthors      Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C., 
RefAuthors      Brunet, S., Aventin, A., Sierra, J.
RefTitle        FLT3 mutations are associated with other molecular lesions 
RefTitle        in AML.
RefLoc          Leuk Res 28:19-23 (2004)
RefNumber       [5]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
RefNumber       [7]
RefCrossRef     PUBMED; 17943971
RefAuthors      Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., 
RefAuthors      Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., 
RefAuthors      Fioretos, T.
RefTitle        FLT3 mutations in a 10 year consecutive series of 177 
RefTitle        childhood acute leukemias and their impact on global gene 
RefTitle        expression patterns.
RefLoc          Genes Chromosomes Cancer 47:64-70
RefNumber       [9]
RefCrossRef     PUBMED; 20875128
RefAuthors      Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., 
RefAuthors      Buffler, P., Wiemels, J.
RefTitle        FLT3 mutation incidence and timing of origin in a 
RefTitle        population case series of pediatric leukemia.
RefLoc          BMC Cancer 10:513
DB CrossRef     OMIM; 136351.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53110
Feature           /change: a -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2561
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> V
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 17; Patients: 17; Homozygotes: 0
//
ID              FLT3_D835H(1); standard; MUTATION; PK
Accession       K00569
Systematic name g.53109G>C, c.2503G>C, r.2503g>c, p.Asp835His
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 9)
RefNumber       [1]
RefCrossRef     PUBMED; 11290608
RefAuthors      Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, 
RefAuthors      Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., 
RefAuthors      Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., 
RefAuthors      Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, 
RefAuthors      R., Ohno, R., Naoe, T.
RefTitle        Activating mutation of D835 within the activation loop of 
RefTitle        FLT3 in human hematologic malignancies.
RefLoc          Blood 97:2434-2439 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 12551822
RefAuthors      Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, 
RefAuthors      E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, 
RefAuthors      J., Torres, A., Sanz, M. A.
RefTitle        Incidence and prognostic value of FLT3 internal tandem 
RefTitle        duplication and D835 mutations in acute myeloid leukemia.
RefLoc          Haematologica 88:19-24 (2003)
RefNumber       [3]
RefCrossRef     PUBMED; 12750701
RefAuthors      Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen, 
RefAuthors      S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H.
RefTitle        FLT3-TKD mutation in childhood acute myeloid leukemia.
RefLoc          Leukemia 17:883-886 (2003)
RefNumber       [4]
RefCrossRef     PUBMED; 11442493
RefAuthors      Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. 
RefAuthors      S., Peake, I. R., Reilly, J. T.
RefTitle        Identification of novel FLT-3 asp835 mutations in adult 
RefTitle        acute myeloid leukaemia.
RefLoc          Br J Haematol 113:983-988 (2001)
RefNumber       [5]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
RefNumber       [6]
RefCrossRef     PUBMED; 14737077
RefAuthors      Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. 
RefAuthors      L., Dunn, P., Kuo, M. C.
RefTitle        Acquisition of FLT3 or N-ras mutations is frequently 
RefTitle        associated with progression of myelodysplastic syndrome to 
RefTitle        acute myeloid leukemia.
RefLoc          Leukemia 18:466-475 (2004)
RefNumber       [8]
RefCrossRef     PUBMED; 17943971
RefAuthors      Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., 
RefAuthors      Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., 
RefAuthors      Fioretos, T.
RefTitle        FLT3 mutations in a 10 year consecutive series of 177 
RefTitle        childhood acute leukemias and their impact on global gene 
RefTitle        expression patterns.
RefLoc          Genes Chromosomes Cancer 47:64-70
RefNumber       [11]
RefCrossRef     PUBMED; 20875128
RefAuthors      Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., 
RefAuthors      Buffler, P., Wiemels, J.
RefTitle        FLT3 mutation incidence and timing of origin in a 
RefTitle        population case series of pediatric leukemia.
RefLoc          BMC Cancer 10:513
DB CrossRef     OMIM; 136351.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53109
Feature           /change: g -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature           /codon: gat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Diagnosis       
Occurrence      Families: 29; Patients: 29; Homozygotes: 0
Comment         -!-Pediatric Leukemia
//
ID              FLT3_D835E(1); standard; MUTATION; PK
Accession       K00570
Systematic name g.53111T>A, c.2505T>A, r.2505u>a, p.Asp835Glu
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 11290608
RefAuthors      Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, 
RefAuthors      Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., 
RefAuthors      Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., 
RefAuthors      Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, 
RefAuthors      R., Ohno, R., Naoe, T.
RefTitle        Activating mutation of D835 within the activation loop of 
RefTitle        FLT3 in human hematologic malignancies.
RefLoc          Blood 97:2434-2439 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 14630076
RefAuthors      Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C., 
RefAuthors      Brunet, S., Aventin, A., Sierra, J.
RefTitle        FLT3 mutations are associated with other molecular lesions 
RefTitle        in AML.
RefLoc          Leuk Res 28:19-23 (2004)
RefNumber       [5]
RefCrossRef     PUBMED; 20875128
RefAuthors      Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., 
RefAuthors      Buffler, P., Wiemels, J.
RefTitle        FLT3 mutation incidence and timing of origin in a 
RefTitle        population case series of pediatric leukemia.
RefLoc          BMC Cancer 10:513
DB CrossRef     OMIM; 136351.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53111
Feature           /change: t -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2562
Feature           /codon: gat -> gaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> E
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
//
ID              FLT3_D835N(1); standard; MUTATION; PK
Accession       K00571
Systematic name g.53109G>A, c.2503G>A, r.2503g>a, p.Asp835Asn
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11290608
RefAuthors      Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, 
RefAuthors      Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., 
RefAuthors      Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., 
RefAuthors      Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, 
RefAuthors      R., Ohno, R., Naoe, T.
RefTitle        Activating mutation of D835 within the activation loop of 
RefTitle        FLT3 in human hematologic malignancies.
RefLoc          Blood 97:2434-2439 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
DB CrossRef     OMIM; 136351.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53109
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature           /codon: gat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Acute lymphocytic leukemia
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              FLT3_@I836+1(1); standard; MUTATION; PK
Accession       K00572
Systematic name g.53112A>T, c.2506A>T, r.2506a>u, p.Ile836Phe
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11290608
RefAuthors      Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, 
RefAuthors      Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., 
RefAuthors      Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., 
RefAuthors      Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, 
RefAuthors      R., Ohno, R., Naoe, T.
RefTitle        Activating mutation of D835 within the activation loop of 
RefTitle        FLT3 in human hematologic malignancies.
RefLoc          Blood 97:2434-2439 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53112
Feature           /change: a -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2563
Feature           /codon: atc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature           /change: I -> F
Feature           /domain: PK
Diagnosis       Myelodysplastic syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FLT3_D835A(1); standard; MUTATION; PK
Accession       K00573
Systematic name g.53110A>C, c.2504A>C, r.2504a>c, p.Asp835Ala
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12551822
RefAuthors      Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, 
RefAuthors      E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, 
RefAuthors      J., Torres, A., Sanz, M. A.
RefTitle        Incidence and prognostic value of FLT3 internal tandem 
RefTitle        duplication and D835 mutations in acute myeloid leukemia.
RefLoc          Haematologica 88:19-24 (2003)
RefNumber       [5]
RefCrossRef     PUBMED; 20875128
RefAuthors      Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., 
RefAuthors      Buffler, P., Wiemels, J.
RefTitle        FLT3 mutation incidence and timing of origin in a 
RefTitle        population case series of pediatric leukemia.
RefLoc          BMC Cancer 10:513
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53110
Feature           /change: a -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2561
Feature           /codon: gat -> gct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> A
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Pediatric Leukemia
//
ID              FLT3_D835E(2); standard; MUTATION; PK
Accession       K00574
Systematic name g.53111T>G, c.2505T>G, r.2505u>g, p.Asp835Glu
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            05-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12692519
RefAuthors      Sheikhha, M. H., Awan, A., Tobal, K., Liu Yin, J. A.
RefTitle        Prognostic significance of FLT3 ITD and D835 mutations in 
RefTitle        AML patients.
RefLoc          Hematol J 4:41-46 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53111
Feature           /change: t -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2562
Feature           /codon: gat -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> E
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Diagnosis       
Occurrence      Families: 10; Patients: 10; Homozygotes: 0
//
ID              FLT3_#D835-1(1); standard; MUTATION; PK
Accession       K00575
Systematic name g.53109delG, c.2503delG, r.2503delg, p.Asp835fsX2
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11442493
RefAuthors      Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. 
RefAuthors      S., Peake, I. R., Reilly, J. T.
RefTitle        Identification of novel FLT-3 asp835 mutations in adult 
RefTitle        acute myeloid leukaemia.
RefLoc          Br J Haematol 113:983-988 (2001)
DB CrossRef     OMIM; 136351.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: FLT3_DNA: 53109
Feature           /change: -g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> ISX
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_A680V(1); standard; MUTATION; PK
Accession       K00576
Systematic name g.43422C>T, c.2039C>T, r.2039c>u, p.Ala680Val
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14554237
RefAuthors      Piccaluga, P. P., Bianchini, M., Martinelli, G.
RefTitle        Novel FLT3 point mutation in acute myeloid leukaemia.
RefLoc          Lancet Oncol 4:604 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 43422
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2096
Feature           /codon: gcg -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 680
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_D835G(1); standard; MUTATION; PK
Accession       K00577
Systematic name g.53110A>G, c.2504A>G, r.2504a>g, p.Asp835Gly
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53110
Feature           /change: a -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2561
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> G
Feature           /domain: PK
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              FLT3_#I836-1(1); standard; MUTATION; PK
Accession       K00578
Systematic name g.53112delA, c.2506delA, r.2506dela, p.Ile836fsX1
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 17943971
RefAuthors      Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., 
RefAuthors      Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., 
RefAuthors      Fioretos, T.
RefTitle        FLT3 mutations in a 10 year consecutive series of 177 
RefTitle        childhood acute leukemias and their impact on global gene 
RefTitle        expression patterns.
RefLoc          Genes Chromosomes Cancer 47:64-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: FLT3_DNA: 53112
Feature           /change: -a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2563
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature           /change: I -> SX
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 18; Patients: 18; Homozygotes: 0
//
ID              FLT3_I836T(1); standard; MUTATION; PK
Accession       K00579
Systematic name g.53113T>C, c.2507T>C, r.2507u>c, p.Ile836Thr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53113
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2564
Feature           /codon: atc -> acc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_@I836+1(2); standard; MUTATION; PK
Accession       K00580
Systematic name g.53113_53114insG, c.2507_2508insG, r.2507_2508insg,
Systematic name p.Ile836fsX3
Description     A frame shift insertion mutation in the exon 19 leading to
Description     a premature stop codon in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12036858
RefAuthors      Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, 
RefAuthors      U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, 
RefAuthors      M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle        Analysis of FLT3-activating mutations in 979 patients with 
RefTitle        acute myelogenous leukemia: association with FAB subtypes 
RefTitle        and identification of subgroups with poor prognosis.
RefLoc          Blood 99:4326-4335 (2002)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: FLT3_DNA: 53114
Feature           /change: +g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2565
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature           /change: I -> MHEX
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_@N841+2(1); standard; MUTATION; PK
Accession       K00581
Systematic name g.53126_53127insG, c.2520_2521insG, r.2520_2521insg,
Systematic name p.Asn841fsX21
Description     A frame shift insertion mutation in the exon 19 leading to
Description     a premature stop codon in the PK domain
Date            05-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12384447
RefAuthors      Spiekermann, K., Bagrintseva, K., Schoch, C., Haferlach, 
RefAuthors      T., Hiddemann, W., Schnittger, S.
RefTitle        A new and recurrent activating length mutation in exon 20 
RefTitle        of the FLT3 gene in acute myeloid leukemia.
RefLoc          Blood 100:3423-3425 (2002)
DB CrossRef     OMIM; 136351.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: FLT3_DNA: 53127
Feature           /change: +g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2578
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 841
Feature           /change: N -> ELCCQGQCPS ACKMDGPRKP VX
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR1A_M470T(1); standard; MUTATION; PK
Accession       K00582
Systematic name g.167795T>C, c.1409T>C, r.1409u>c, p.Met470Thr
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12630959
RefAuthors      Kim, I. J., Park, J. H., Kang, H. C., Kim, K. H., Kim, J. 
RefAuthors      H., Ku, J. L., Kang, S. B., Park, S. Y., Lee, J. S., Park, 
RefAuthors      J. G.
RefTitle        Identification of a novel BMPR1A germline mutation in a 
RefTitle        korean juvenile polyposis patient without SMAD4 mutation.
RefLoc          Clin Genet 63:126-130 (2003)
DB CrossRef     OMIM; 601299.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 167795
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1718
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 470
Feature           /change: M -> T
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              GUCY2D_R660Q(1); standard; MUTATION; PK
Accession       K00583
Systematic name g.8429G>A, c.1979G>A, r.1979g>a, p.Arg660Gln
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12623820
RefAuthors      Milam, A. H., Barakat, M. R., Gupta, N., Rose, L., Aleman, 
RefAuthors      T. S., Pianta, M. J., Cideciyan, A. V., Sheffield, V. C., 
RefAuthors      Stone, E. M., Jacobson, S. G.
RefTitle        Clinicopathologic effects of mutant GUCY2D in leber 
RefTitle        congenital amaurosis.
RefLoc          Ophthalmology 110:549-558 (2003)
RefNumber       [2]
RefCrossRef     PUBMED; 10766140
RefAuthors      Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., 
RefAuthors      Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. 
RefAuthors      S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., 
RefAuthors      Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., 
RefAuthors      Stone, E. M.
RefTitle        Mutation analysis of 3 genes in patients with leber 
RefTitle        congenital amaurosis.
RefLoc          Arch Ophthalmol 118:538-543 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 8429
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2052
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 660
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Diagnosis       
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              GUCY2D_F565S(1); standard; MUTATION; PK
Accession       K00584
Systematic name g.6858T>C, c.1694T>C, r.1694u>c, p.Phe565Ser
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 10951519
RefAuthors      Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, 
RefAuthors      D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J. 
RefAuthors      L., Munnich, A., Kaplan, J.
RefTitle        Spectrum of retGC1 mutations in leber's congenital 
RefTitle        amaurosis.
RefLoc          Eur J Hum Genet 8:578-582 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 8944027
RefAuthors      Perrault, I., Rozet, J. M., Calvas, P., Gerber, S., 
RefAuthors      Camuzat, A., Dollfus, H., Chxtelin, S., Souied, E., Ghazi, 
RefAuthors      I., Leowski, C., Bonnemaison, M., Le Paslier, D., Frezal, 
RefAuthors      J., Dufier, J. L., Pittler, S., Munnich, A., Kaplan, J.
RefTitle        Retinal-specific guanylate cyclase gene mutations in 
RefTitle        leber's congenital amaurosis.
RefLoc          Nat Genet 14:461-464 (1996)
DB CrossRef     OMIM; 600179.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 6858
Feature           /change: t -> c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 1767
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 565
Feature           /change: F -> S
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 5; Patients: 5; Homozygotes: 3
//
ID              GUCY2D_#R602X628(1); standard; MUTATION; PK
Accession       K00585
Systematic name g.8156delG, c.1805delG, r.1805delg, p.Gly603fsX33
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10951519
RefAuthors      Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, 
RefAuthors      D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J. 
RefAuthors      L., Munnich, A., Kaplan, J.
RefTitle        Spectrum of retGC1 mutations in leber's congenital 
RefTitle        amaurosis.
RefLoc          Eur J Hum Genet 8:578-582 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: AJ222657: 8156
Feature           /change: -g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 1878
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 602
Feature           /change: R -> REQKALRPSG RATWLWSQST ARGALFRTSS LREKX
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              GUCY2D_R540C(1); standard; MUTATION; PK
Accession       K00586
Systematic name g.5311C>T, c.1618C>T, r.1618c>u, p.Arg540Cys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10951519
RefAuthors      Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, 
RefAuthors      D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J. 
RefAuthors      L., Munnich, A., Kaplan, J.
RefTitle        Spectrum of retGC1 mutations in leber's congenital 
RefTitle        amaurosis.
RefLoc          Eur J Hum Genet 8:578-582 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 5311
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 1691
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 540
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              GUCY2D_Y746C(1); standard; MUTATION; PK
Accession       K00587
Systematic name g.9184A>G, c.2237A>G, r.2237a>g, p.Tyr746Cys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10766140
RefAuthors      Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., 
RefAuthors      Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. 
RefAuthors      S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., 
RefAuthors      Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., 
RefAuthors      Stone, E. M.
RefTitle        Mutation analysis of 3 genes in patients with leber 
RefTitle        congenital amaurosis.
RefLoc          Arch Ophthalmol 118:538-543 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 9184
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2310
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 746
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              GUCY2D_R660X(1); standard; MUTATION; PK
Accession       K00588
Systematic name g.8428C>T, c.1978C>T, r.1978c>u, p.Arg660X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10766140
RefAuthors      Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., 
RefAuthors      Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. 
RefAuthors      S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., 
RefAuthors      Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., 
RefAuthors      Stone, E. M.
RefTitle        Mutation analysis of 3 genes in patients with leber 
RefTitle        congenital amaurosis.
RefLoc          Arch Ophthalmol 118:538-543 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 8428
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2051
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 660
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              GUCY2D_R768W(1); standard; MUTATION; PK
Accession       K00589
Systematic name g.9875C>T, c.2302C>T, r.2302c>u, p.Arg768Trp
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10766140
RefAuthors      Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., 
RefAuthors      Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. 
RefAuthors      S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., 
RefAuthors      Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., 
RefAuthors      Stone, E. M.
RefTitle        Mutation analysis of 3 genes in patients with leber 
RefTitle        congenital amaurosis.
RefLoc          Arch Ophthalmol 118:538-543 (2000)
RefNumber       [4]
RefCrossRef     PUBMED; 16272259
RefAuthors      Booij, J. C., Florijn, R. J., ten Brink, J. B., Loves, W., 
RefAuthors      Meire, F., van Schooneveld, M. J., de Jong, P. T., Bergen, 
RefAuthors      A. A.
RefTitle        Identification of mutations in the AIPL1, CRB1, GUCY2D, 
RefTitle        RPE65, and RPGRIP1 genes in patients with juvenile 
RefTitle        retinitis pigmentosa.
RefLoc          J Med Genet 42:e67
RefNumber       [7]
RefCrossRef     PUBMED; 17724218
RefAuthors      Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, 
RefAuthors      E., Bianchi, P. E., Fossarello, M., Signorini, S., 
RefAuthors      Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., 
RefAuthors      Ciccodicola, A., Rinaldi, E., Auricchio, A., Banfi, S.
RefTitle        Clinical and molecular genetics of Leber's congenital 
RefTitle        amaurosis: a multicenter study of Italian patients.
RefLoc          Invest Ophthalmol Vis Sci 48:4284-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 9875
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2375
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 768
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 6; Patients: 6; Homozygotes: 0
//
ID              GUCY2D_M773L(1); standard; MUTATION; PK
Accession       K00590
Systematic name g.9890A>C, c.2317A>C, r.2317a>c, p.Met773Leu
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10766140
RefAuthors      Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., 
RefAuthors      Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. 
RefAuthors      S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., 
RefAuthors      Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., 
RefAuthors      Stone, E. M.
RefTitle        Mutation analysis of 3 genes in patients with leber 
RefTitle        congenital amaurosis.
RefLoc          Arch Ophthalmol 118:538-543 (2000)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 9890
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2390
Feature           /codon: atg -> ctg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 773
Feature           /change: M -> L
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              GUCY2D_R838C(1); standard; MUTATION; 
Accession       K00591
Systematic name g.10656C>T, c.2512C>T, r.2512c>u, p.Arg838Cys
Description     A point mutation in the exon 13 leading to an amino acid
Description     change
Date            06-Feb-2004 (Rel. 2, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 11709018
RefAuthors      Downes, S. M., Payne, A. M., Kelsell, R. E., Fitzke, F. 
RefAuthors      W., Holder, G. E., Hunt, D. M., Moore, A. T., Bird, A. C.
RefTitle        Autosomal dominant cone-rod dystrophy with mutations in 
RefTitle        the guanylate cyclase 2D gene encoding retinal guanylate 
RefTitle        cyclase-1.
RefLoc          Arch Ophthalmol 119:1667-1673 (2001)
RefNumber       [2]
RefCrossRef     PUBMED; 9618177
RefAuthors      Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault, 
RefAuthors      I., Kaplan, J., Yang, R. B., Garbers, D. L., Bird, A. C., 
RefAuthors      Moore, A. T., Hunt, D. M.
RefTitle        Mutations in the retinal guanylate cyclase (RETGC-1) gene 
RefTitle        in dominant cone-rod dystrophy.
RefLoc          Hum Mol Genet 7:1179-1184 (1998)
RefNumber       [8]
RefCrossRef     PUBMED; 18487367
RefAuthors      Kitiratschky, V. B., Wilke, R., Renner, A. B., Kellner, 
RefAuthors      U., Vadala, M., Birch, D. G., Wissinger, B., Zrenner, E., 
RefAuthors      Kohl, S.
RefTitle        Mutation analysis identifies GUCY2D as the major gene 
RefTitle        responsible for autosomal dominant progressive cone 
RefTitle        degeneration.
RefLoc          Invest Ophthalmol Vis Sci 49:5015-23
DB CrossRef     OMIM; 600179.0006
DB CrossRef     OMIM; 600179.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 10656
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2585
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 838
Feature           /change: R -> C
Diagnosis       Cone-rod dystrophy
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 9; Patients: 29; Homozygotes: 0
//
ID              GUCY2D_R838H(1); standard; MUTATION; 
Accession       K00592
Systematic name g.10657G>A, c.2513G>A, r.2513g>a, p.Arg838His
Description     A point mutation in the exon 13 leading to an amino acid
Description     change
Date            06-Feb-2004 (Rel. 2, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 11709018
RefAuthors      Downes, S. M., Payne, A. M., Kelsell, R. E., Fitzke, F. 
RefAuthors      W., Holder, G. E., Hunt, D. M., Moore, A. T., Bird, A. C.
RefTitle        Autosomal dominant cone-rod dystrophy with mutations in 
RefTitle        the guanylate cyclase 2D gene encoding retinal guanylate 
RefTitle        cyclase-1.
RefLoc          Arch Ophthalmol 119:1667-1673 (2001)
RefNumber       [7]
RefCrossRef     PUBMED; 18487367
RefAuthors      Kitiratschky, V. B., Wilke, R., Renner, A. B., Kellner, 
RefAuthors      U., Vadala, M., Birch, D. G., Wissinger, B., Zrenner, E., 
RefAuthors      Kohl, S.
RefTitle        Mutation analysis identifies GUCY2D as the major gene 
RefTitle        responsible for autosomal dominant progressive cone 
RefTitle        degeneration.
RefLoc          Invest Ophthalmol Vis Sci 49:5015-23
DB CrossRef     OMIM; 600179.0008
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 10657
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2586
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 838
Feature           /change: R -> H
Diagnosis       Cone-rod dystrophy
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 4; Patients: 6; Homozygotes: 0
//
ID              GUCY2D_R838S(1); standard; MUTATION; 
Accession       K00593
Systematic name g.10656C>A, c.2512C>A, r.2512c>a, p.Arg838Ser
Description     A point mutation in the exon 13 leading to an amino acid
Description     change
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 10647719
RefAuthors      Gregory-Evans, K., Kelsell, R. E., Gregory-Evans, C. Y., 
RefAuthors      Downes, S. M., Fitzke, F. W., Holder, G. E., Simunovic, 
RefAuthors      M., Mollon, J. D., Taylor, R., Hunt, D. M., Bird, A. C., 
RefAuthors      Moore, A. T.
RefTitle        Autosomal dominant cone-rod retinal dystrophy (CORD6) from 
RefTitle        heterozygous mutation of GUCY2D, which encodes retinal 
RefTitle        guanylate cyclase.
RefLoc          Ophthalmology 107:55-61 (2000)
DB CrossRef     OMIM; 600179.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 10656
Feature           /change: c -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2585
Feature           /codon: cgc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 838
Feature           /change: R -> S
Diagnosis       Cone-rod dystrophy
Occurrence      Families: 1; Patients: 15; Homozygotes: 0
//
ID              GUCY2D_E837D(1); standard; MUTATION; 
Accession       K00594
Systematic name g.10655G>C, c.2511G>C, r.2511g>c, p.Glu837Asp
Description     A point mutation in the exon 13 leading to an amino acid
Description     change
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 10647719
RefAuthors      Gregory-Evans, K., Kelsell, R. E., Gregory-Evans, C. Y., 
RefAuthors      Downes, S. M., Fitzke, F. W., Holder, G. E., Simunovic, 
RefAuthors      M., Mollon, J. D., Taylor, R., Hunt, D. M., Bird, A. C., 
RefAuthors      Moore, A. T.
RefTitle        Autosomal dominant cone-rod retinal dystrophy (CORD6) from 
RefTitle        heterozygous mutation of GUCY2D, which encodes retinal 
RefTitle        guanylate cyclase.
RefLoc          Ophthalmology 107:55-61 (2000)
RefNumber       [2]
RefCrossRef     PUBMED; 9618177
RefAuthors      Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault, 
RefAuthors      I., Kaplan, J., Yang, R. B., Garbers, D. L., Bird, A. C., 
RefAuthors      Moore, A. T., Hunt, D. M.
RefTitle        Mutations in the retinal guanylate cyclase (RETGC-1) gene 
RefTitle        in dominant cone-rod dystrophy.
RefLoc          Hum Mol Genet 7:1179-1184 (1998)
DB CrossRef     OMIM; 600179.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 10655
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2584
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 837
Feature           /change: E -> D
Diagnosis       Cone-rod dystrophy
Occurrence      Families: 2; Patients: 25; Homozygotes: 0
//
ID              GUCY2D_837(1); standard; MUTATION; 
Accession       K00595
Systematic name g.10655G>C, c.2511G>C, r.2511g>c, p.Glu837Asp
Description     A point mutation in the exon 13 leading to an amino acid
Description     change
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9683616
RefAuthors      Perrault, I., Rozet, J. M., Gerber, S., Kelsell, R. E., 
RefAuthors      Souied, E., Cabot, A., Hunt, D. M., Munnich, A., Kaplan, 
RefAuthors      J.
RefTitle        A retGC-1 mutation in autosomal dominant cone-rod 
RefTitle        dystrophy.
RefLoc          Am J Hum Genet 63:651-654 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 10655
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2584
Feature           /codon: gag -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 837
Feature           /change: E -> D
Diagnosis       Cone-rod dystrophy
Occurrence      Families: 1; Patients: 6; Homozygotes: 0
//
ID              PHKG2_D215N(1); standard; MUTATION; PK
Accession       K00596
Systematic name g.8867G>A, c.643G>A, r.643g>a, p.Asp215Asn
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12930917
RefAuthors      Burwinkel, B., Rootwelt, T., Kvittingen, E. A., 
RefAuthors      Chakraborty, P. K., Kilimann, M. W.
RefTitle        Severe phenotype of phosphorylase kinase-deficient liver 
RefTitle        glycogenosis with mutations in the PHKG2 gene.
RefLoc          Pediatr Res 54:834-839 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 8867
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 736
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 215
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_W300X(1); standard; MUTATION; 
Accession       K00597
Systematic name g.9287G>A, c.900G>A, r.900g>a, p.Trp300X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12930917
RefAuthors      Burwinkel, B., Rootwelt, T., Kvittingen, E. A., 
RefAuthors      Chakraborty, P. K., Kilimann, M. W.
RefTitle        Severe phenotype of phosphorylase kinase-deficient liver 
RefTitle        glycogenosis with mutations in the PHKG2 gene.
RefLoc          Pediatr Res 54:834-839 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 9287
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 993
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 300
Feature           /change: W -> X
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-In the same patient with K00598: H89X
//
ID              PHKG2_#H89X109(1); standard; MUTATION; PK
Accession       K00598
Systematic name g.3875delA, c.266delA, r.266dela, p.His89fsX20
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12930917
RefAuthors      Burwinkel, B., Rootwelt, T., Kvittingen, E. A., 
RefAuthors      Chakraborty, P. K., Kilimann, M. W.
RefTitle        Severe phenotype of phosphorylase kinase-deficient liver 
RefTitle        glycogenosis with mutations in the PHKG2 gene.
RefLoc          Pediatr Res 54:834-839 (2003)
DB CrossRef     OMIM; 172471.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: PHKG2_DNA: 3875
Feature           /change: -a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 359
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 89
Feature           /change: H -> PSSPSSIPTS LLASCSWCLT X
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_E157K(1); standard; MUTATION; PK
Accession       K00599
Systematic name g.6069G>A, c.469G>A, r.469g>a, p.Glu157Lys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12930917
RefAuthors      Burwinkel, B., Rootwelt, T., Kvittingen, E. A., 
RefAuthors      Chakraborty, P. K., Kilimann, M. W.
RefTitle        Severe phenotype of phosphorylase kinase-deficient liver 
RefTitle        glycogenosis with mutations in the PHKG2 gene.
RefLoc          Pediatr Res 54:834-839 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 6069
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 562
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 157
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_#L93X109(1); standard; MUTATION; PK
Accession       K00600
Systematic name g.4153delC, c.277delC, r.277delc, p.Leu93fsX16
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9384616
RefAuthors      Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W.
RefTitle        Liver glycogenosis due to phosphorylase kinase deficiency: 
RefTitle        PHKG2 gene structure and mutations associated with 
RefTitle        cirrhosis.
RefLoc          Hum Mol Genet 7:149-154 (1998)
DB CrossRef     OMIM; 172471.0005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: PHKG2_DNA: 4153
Feature           /change: -c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 370
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 93
Feature           /change: L -> SSIPTSLLAS CSWCLTX
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_R44X(1); standard; MUTATION; PK
Accession       K00601
Systematic name g.3739C>T, c.130C>T, r.130c>u, p.Arg44X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9384616
RefAuthors      Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W.
RefTitle        Liver glycogenosis due to phosphorylase kinase deficiency: 
RefTitle        PHKG2 gene structure and mutations associated with 
RefTitle        cirrhosis.
RefLoc          Hum Mol Genet 7:149-154 (1998)
DB CrossRef     OMIM; 172471.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 3739
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 223
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 44
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_H145Y(1); standard; MUTATION; PK
Accession       K00602
Systematic name g.6033C>T, c.433C>T, r.433c>u, p.His145Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 9245685
RefAuthors      van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann, 
RefAuthors      R., Berger, R., van den Berg, I. E.
RefTitle        Autosomal recessive liver phosphorylase kinase deficiency 
RefTitle        caused by a novel splice-site mutation in the gene 
RefTitle        encoding the liver gamma subunit (PHKG2).
RefLoc          Biochem Biophys Res Commun 236:544-548 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 10905889
RefAuthors      Burwinkel, B., Tanner, M. S., Kilimann, M. W.
RefTitle        Phosphorylase kinase deficient liver glycogenosis: 
RefTitle        progression to cirrhosis in infancy associated with PHKG2 
RefTitle        mutations (H144Y and L225R)
RefLoc          J Med Genet 37:376-377 (2000)
DB CrossRef     OMIM; 172471.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 6033
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 526
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 145
Feature           /change: H -> Y
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PHKG2_L226R(1); standard; MUTATION; PK
Accession       K00603
Systematic name g.8995T>G, c.677T>G, r.677u>g, p.Leu226Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            06-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9245685
RefAuthors      van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann, 
RefAuthors      R., Berger, R., van den Berg, I. E.
RefTitle        Autosomal recessive liver phosphorylase kinase deficiency 
RefTitle        caused by a novel splice-site mutation in the gene 
RefTitle        encoding the liver gamma subunit (PHKG2).
RefLoc          Biochem Biophys Res Commun 236:544-548 (1997)
RefNumber       [2]
RefCrossRef     PUBMED; 10905889
RefAuthors      Burwinkel, B., Tanner, M. S., Kilimann, M. W.
RefTitle        Phosphorylase kinase deficient liver glycogenosis: 
RefTitle        progression to cirrhosis in infancy associated with PHKG2 
RefTitle        mutations (H144Y and L225R)
RefLoc          J Med Genet 37:376-377 (2000)
DB CrossRef     OMIM; 172471.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 8995
Feature           /change: t -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 770
Feature           /codon: ctc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 226
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              INSR_R1027X(1); standard; MUTATION; PK
Accession       K00604
Systematic name g.169430C>T, c.3079C>T, r.3079c>u, p.Arg1027X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK domain
Date            10-Feb-2004 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 2365819
RefAuthors      Kadowaki, T., Kadowaki, H., Rechler, M. M., Serrano-Rios, 
RefAuthors      M., Roth, J., Gorden, P., Taylor, S. I.
RefTitle        Five mutant alleles of the insulin receptor gene in 
RefTitle        patients with genetic forms of insulin resistance.
RefLoc          J Clin Invest 86:254-264 (1990)
DB CrossRef     OMIM; 147670.0013
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: INSR_DNA: 169430
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M10051; GI:33112647; M10051: 3217
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: INSR_HUMAN: 1027
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Insulin resistance
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              JAK3_#K733X794(1); standard; MUTATION; PK1
Accession       K00605
Systematic name g.14140delG, c.2199delG, r.2199delg, p.Lys734fsX21
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the PK1 domain
Date            10-Feb-2004 (Rel. 2, Created)
Date            10-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 7659163
RefAuthors      Macchi, P., Villa, A., Giliani, S., Sacco, M. G., 
RefAuthors      Frattini, A., Porta, F., Ugazio, A. G., Johnston, J. A., 
RefAuthors      Candotti, F., O'Shea, J. J.
RefTitle        Mutations of jak-3 gene in patients with autosomal severe 
RefTitle        combined immune deficiency (SCID).
RefLoc          Nature 377:65-68 (1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: JAK3_DNA: 14140
Feature           /change: -g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2294
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 733
Feature           /change: K -> KNSNFMRTGS SCRPPSGQSW PCX
Feature           /domain: PK1
Diagnosis       T-negative/B-positive type severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_S904C(1); standard; MUTATION; PK
Accession       K00606
Systematic name g.44121C>G, c.2711C>G, r.2711c>g, p.Ser904Cys
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11788682
RefAuthors      Menko, F. H., van der Luijt, R. B., de Valk, I. A., 
RefAuthors      Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C. 
RefAuthors      J.
RefTitle        Atypical MEN type 2B associated with two germline RET 
RefTitle        mutations on the same allele not involving codon 918.
RefLoc          J Clin Endocrinol Metab 87:393-397 (2002)
DB CrossRef     OMIM; 164761.0043
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44121
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2906
Feature           /codon: tcc -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 904
Feature           /change: S -> C
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
Comment         -!-4 members of a family holds also a V804M mutation in the
Comment         -!-same allele
//
ID              STK11_#V66X152(1); standard; MUTATION; PK
Accession       K00607
Systematic name g.1198delG, c.198delG, r.198delg, p.Leu67fsX28
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1198
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 536
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 66
Feature           /change: V -> VWTRRRCAGG PSRSSRRRSC EGSPTGRPTX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#D277X283(1); standard; MUTATION; PK
Accession       K00608
Systematic name g.15396delC, c.831delC, r.831delc, p.Cys278fsX8
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 9428765
RefAuthors      Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., 
RefAuthors      Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, 
RefAuthors      M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., 
RefAuthors      Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., 
RefAuthors      Olschwang, S., Olsen, A. S., Stratton, M. R., de la 
RefAuthors      Chapelle, A., Aaltonen, L. A.
RefTitle        A serine/threonine kinase gene defective in peutz-jeghers 
RefTitle        syndrome.
RefLoc          Nature 391:184-187 (1998)
DB CrossRef     OMIM; 602216.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15396
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1169
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 277
Feature           /change: D -> DVAPRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@V66X162(1); standard; MUTATION; PK
Accession       K00609
Systematic name g.1197dupT, c.197dupT, r.197dupu, p.Leu67fsX95
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10217080
RefAuthors      Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P., 
RefAuthors      Koole, R., van Velthuysen, M. L., Offerhaus, G. J., 
RefAuthors      Lindhout, D., de Rooij, F. W., Wilson, J. H.
RefTitle        Peutz-jeghers syndrome: 78-year follow-up of the original 
RefTitle        family.
RefLoc          Lancet 353:1211-1215 (1999)
DB CrossRef     OMIM; 602216.0014
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 1198
Feature           /change: +t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 536
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 66
Feature           /change: V -> 
Feature           /change: VAGLGDAVQE GRQDPQEEEV AKDPQRGGQR EEGNSTTEEV
Feature           /change: TAQKCHPAGG CVIQRREAEN VYGDGVLRVW HAGNAGQRAG
Feature           /change: EAFPSVPGPR VLLSADX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#P217X286(1); standard; MUTATION; PK
Accession       K00610
Systematic name g.14720delC, c.650delC, r.650delc, p.Pro217fsX69
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10362809
RefAuthors      Su, G. H., Hruban, R. H., Bansal, R. K., Bova, G. S., 
RefAuthors      Tang, D. J., Shekher, M. C., Westerman, A. M., Entius, M. 
RefAuthors      M., Goggins, M., Yeo, C. J., Kern, S. E.
RefTitle        Germline and somatic mutations of the STK11/LKB1 peutz-
RefTitle        jeghers gene in pancreatic and biliary cancers.
RefLoc          Am J Pathol 154:1835-1840 (1999)
DB CrossRef     OMIM; 602216.0016
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14720
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 988
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 217
Feature           /change: P -> 
Feature           /change: RLSSRPRLPT AWTPSPASRW TSGRLGSPST TSPRVCTPSK
Feature           /change: GTTSTSCLRT SGRGATPSRA TVAPRSLTCX
Feature           /domain: PK
Diagnosis       Pancreatic cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_W239C(1); standard; MUTATION; PK
Accession       K00611
Systematic name g.14787G>C, c.717G>C, r.717g>c, p.Trp239Cys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 12372054
RefAuthors      Scott, R. J., Crooks, R., Meldrum, C. J., Thomas, L., 
RefAuthors      Smith, C. J., Mowat, D., McPhillips, M., Spigelman, A. D.
RefTitle        Mutation analysis of the STK11/LKB1 gene and clinical 
RefTitle        characteristics of an australian series of peutz-jeghers 
RefTitle        syndrome patients.
RefLoc          Clin Genet 62:282-287 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 17026623
RefAuthors      Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., 
RefAuthors      Spigelman, A. D., Scott, R. J.
RefTitle        An updated mutation spectrum in an Australian series of 
RefTitle        PJS patients provides further evidence for only one gene 
RefTitle        locus.
RefLoc          Clin Genet 70:409-14
DB CrossRef     OMIM; 602216.0021
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14787
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1055
Feature           /codon: tgg -> tgc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 239
Feature           /change: W -> C
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_I398N(1); standard; MUTATION; PK
Accession       K00612
Systematic name g.4706T>A, c.1193T>A, r.1193u>a, p.Ile398Asn
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            11-Feb-2004 (Rel. 2, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11170071
RefAuthors      Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., 
RefAuthors      Rasmussen, K., Green, A., Vase, P.
RefTitle        Mutations in the ALK-1 gene and the phenotype of 
RefTitle        hereditary hemorrhagic telangiectasia in two large danish 
RefTitle        families.
RefLoc          Am J Med Genet 98:298-302 (2001)
RefNumber       [3]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
DB CrossRef     OMIM; 601284.0006
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4706
Feature           /change: t -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1475
Feature           /codon: atc -> aac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 398
Feature           /change: I -> N
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              RPS6KA3_#A136X147(1); standard; MUTATION; PK1
Accession       K00613
Systematic name g.73833delC, c.407delC, r.407delc, p.Ala136fsX27
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK1 domain
Date            13-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8955270
RefAuthors      Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., 
RefAuthors      Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., 
RefAuthors      Hanauer, A.
RefTitle        Mutations in the kinase rsk-2 associated with coffin-lowry 
RefTitle        syndrome.
RefLoc          Nature 384:567-570 (1996)
DB CrossRef     OMIM; 300075.0001
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73833
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 407
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 136
Feature           /change: A -> VFKLKGSCIL FWIFSGEEIC LHAYPKRX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#R151X175(1); standard; MUTATION; PK1
Accession       K00614
Systematic name g.73877delA, c.451delA, r.451dela, p.Arg151fsX12
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK1 domain
Date            13-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10094187
RefAuthors      Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., 
RefAuthors      Hanauer, A., Schwartz, C. E.
RefTitle        Novel mutations in rsk-2, the gene for coffin-lowry 
RefTitle        syndrome (CLS).
RefLoc          Eur J Hum Genet 7:20-26 (1999)
DB CrossRef     OMIM; 300075.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73877
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 451
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 151
Feature           /change: R -> GEEICLHAYP KRX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT4_P954S(1); standard; MUTATION; PK
Accession       K00616
Systematic name g.31635C>T, c.2860C>T, r.2860c>u, p.Pro954Ser
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            13-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11807987
RefAuthors      Walter, J. W., North, P. E., Waner, M., Mizeracki, A., 
RefAuthors      Blei, F., Walker, J. W., Reinisch, J. F., Marchuk, D. A.
RefTitle        Somatic mutation of vascular endothelial growth factor 
RefTitle        receptors in juvenile hemangioma.
RefLoc          Genes Chromosomes Cancer 33:295-303 (2002)
DB CrossRef     OMIM; 136352.0007
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 31635
Feature           /change: c -> t
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2881
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 954
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Juvenile hemangioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_G189E(1); standard; MUTATION; PK
Accession       K00617
Systematic name g.8790G>A, c.566G>A, r.566g>a, p.Gly189Glu
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            13-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8896567
RefAuthors      Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., 
RefAuthors      Kilimann, M. W.
RefTitle        Mutations in the testis/liver isoform of the phosphorylase 
RefTitle        kinase gamma subunit (PHKG2) cause autosomal liver 
RefTitle        glycogenosis in the gsd rat and in humans.
RefLoc          Nat Genet 14:337-340 (1996)
DB CrossRef     OMIM; 172471.0002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 8790
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 659
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 189
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_V106E(1); standard; MUTATION; PK
Accession       K00618
Systematic name g.4193T>A, c.317T>A, r.317u>a, p.Val106Glu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            13-Feb-2004 (Rel. 2, Created)
Date            13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 8896567
RefAuthors      Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., 
RefAuthors      Kilimann, M. W.
RefTitle        Mutations in the testis/liver isoform of the phosphorylase 
RefTitle        kinase gamma subunit (PHKG2) cause autosomal liver 
RefTitle        glycogenosis in the gsd rat and in humans.
RefLoc          Nat Genet 14:337-340 (1996)
DB CrossRef     OMIM; 172471.0003
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PHKG2_DNA: 4193
Feature           /change: t -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 410
Feature           /codon: gtg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 106
Feature           /change: V -> E
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              LTK_E763K(1); standard; MUTATION; PK
Accession       K00619
Systematic name g.10479G>A, c.2287G>A, r.2287g>a, p.Glu763Lys
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            18-Feb-2004 (Rel. 2, Created)
Date            18-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14695357
RefAuthors      Li, N., Nakamura, K., Jiang, Y., Tsurui, H., Matsuoka, S., 
RefAuthors      Abe, M., Ohtsuji, M., Nishimura, H., Kato, K., Kawai, T., 
RefAuthors      Atsumi, T., Koike, T., Shirai, T., Ueno, H., Hirose, S.
RefTitle        Gain-of-function polymorphism in mouse and human ltk: 
RefTitle        implications for the pathogenesis of systemic lupus 
RefTitle        erythematosus.
RefLoc          Hum Mol Genet 13:171-179 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: LTK_DNA: 10479
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D16105; GI:440855; D16105 : 2384
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: HSLTKLP2: 763
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Systemic lupus erythematosus
Occurrence      Families: 11; Patients: 11; Homozygotes: 0
Comment         -!-Polimorphism, which frequency is significantly higher in
Comment         -!-SLE patients than in controlThe mutant allele
Comment         -!-constitutively activates the PI3K pthway
//
ID              FGFR1_P745S(1); standard; MUTATION; PK
Accession       K00620
Systematic name g.55642C>T, c.2233C>T, r.2233c>u, p.Pro745Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            01-Apr-2004 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 15001591
RefAuthors      Sato, N., Katsumata, N., Kagami, M., Hasegawa, T., Hori, 
RefAuthors      N., Kawakita, S., Minowada, S., Shimotsuka, A., Shishiba, 
RefAuthors      Y., Yokozawa, M., Yasuda, T., Nagasaki, K., Hasegawa, D., 
RefAuthors      Hasegawa, Y., Tachibana, K., Naiki, Y., Horikawa, R., 
RefAuthors      Tanaka, T., Ogata, T.
RefTitle        Clinical assessment and mutation analysis of kallmann 
RefTitle        syndrome 1 (KAL1) and fibroblast growth factor receptor 
RefTitle        1 (FGFR1, or KAL2) in five families and 18 sporadic 
RefTitle        patients.
RefLoc          J Clin Endocrinol Metab 89:1079-1088 (2004)
RefNumber       [4]
RefCrossRef     PUBMED; 15845591
RefAuthors      Sato, N., Hasegawa, T., Hori, N., Fukami, M., Yoshimura, 
RefAuthors      Y., Ogata, T.
RefTitle        Gonadotrophin therapy in Kallmann syndrome caused by 
RefTitle        heterozygous mutations of the gene for fibroblast growth 
RefTitle        factor receptor 1: report of three families: case report.
RefLoc          Hum Reprod 20:2173-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55642
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2959
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 745
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Diagnosis       
Occurrence      Families: 3; Patients: 5; Homozygotes: 0
//
ID              JAK3_E698X(1); standard; MUTATION; PK1
Accession       K00621
Systematic name g.14033G>T, c.2092G>T, r.2092g>u, p.Glu698X
Description     A point mutation in the exon 16 leading to a premature stop
Description     codon in the PK1 domain
Date            01-Apr-2004 (Rel. 2, Created)
Date            01-Apr-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11668624
RefAuthors      Feldser, D. M., Kern, S. E.
RefTitle        Oncogenic levels of mitogen-activated protein 
RefTitle        kinase (MAPK) signaling of the dinucleotide KRAS2 
RefTitle        mutations G12F and GG12-13VC.
RefLoc          Hum Mutat 18:357 (2001)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: JAK3_DNA: 14033
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U09607; GI:1708581; U09607: 2187
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: JAK3_HUMAN: 698
Feature           /change: E -> X
Feature           /domain: PK1
Diagnosis       T-negative/B-positive type severe combined immunodeficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_D835F(1); standard; MUTATION; PK
Accession       K00622
Systematic name g.53109G>T, c.2503G>T, r.2503g>u, p.Asp835Tyr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Apr-2004 (Rel. 2, Created)
Date            05-Apr-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14737077
RefAuthors      Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. 
RefAuthors      L., Dunn, P., Kuo, M. C.
RefTitle        Acquisition of FLT3 or N-ras mutations is frequently 
RefTitle        associated with progression of myelodysplastic syndrome to 
RefTitle        acute myeloid leukemia.
RefLoc          Leukemia 18:466-475 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53109
Feature           /change: g -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_I836S(1); standard; MUTATION; PK
Accession       K00623
Systematic name g.53112A>T, c.2506A>T, r.2506a>u, p.Ile836Phe
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            05-Apr-2004 (Rel. 2, Created)
Date            05-Apr-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14737077
RefAuthors      Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. 
RefAuthors      L., Dunn, P., Kuo, M. C.
RefTitle        Acquisition of FLT3 or N-ras mutations is frequently 
RefTitle        associated with progression of myelodysplastic syndrome to 
RefTitle        acute myeloid leukemia.
RefLoc          Leukemia 18:466-475 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53112
Feature           /change: a -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2563
Feature           /codon: atc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature           /change: I -> F
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y246X(1); standard; MUTATION; PK
Accession       K00624
Systematic name g.15303C>G, c.738C>G, r.738c>g, p.Tyr246X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            30-Jun-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15200509
RefAuthors      Hernan, I., Roig, I., Martin, B., Gamundi, M. J., Martinez-
RefAuthors      Gimeno, M., Carballo, M.
RefTitle        De novo germline mutation in the serine-threonine kinase 
RefTitle        STK11/LKB1 gene associated with peutz-jeghers syndrome.
RefLoc          Clin Genet 66:58-62 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15303
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1076
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 246
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Protein struct  LOH in the hamartomatous polyps
//
ID              FLT3_N841Y(1); standard; MUTATION; PK
Accession       K00625
Systematic name g.53127A>T, c.2521A>T, r.2521a>u, p.Asn841Tyr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            30-Jun-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15178581
RefAuthors      Jiang, J., Paez, J. G., Lee, J. C., Bo, R., Stone, R. M., 
RefAuthors      DeAngelo, D. J., Galinsky, I., Wolpin, B. M., Jonasova, 
RefAuthors      A., Herman, P., Fox, E. A., Boggon, T. J., Eck, M. J., 
RefAuthors      Weisberg, E., Griffin, J. D., Gilliland, D. G., Meyerson, 
RefAuthors      M., Sellers, W. R.
RefTitle        Identification and characterization of a novel activating 
RefTitle        mutation of the FLT3 tyrosine kinase in AML.
RefLoc          Blood : ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53127
Feature           /change: a -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2578
Feature           /codon: aac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 841
Feature           /change: N -> Y
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_N841I(1); standard; MUTATION; PK
Accession       K00626
Systematic name g.53128A>T, c.2522A>T, r.2522a>u, p.Asn841Ile
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            30-Jun-2004 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15178581
RefAuthors      Jiang, J., Paez, J. G., Lee, J. C., Bo, R., Stone, R. M., 
RefAuthors      DeAngelo, D. J., Galinsky, I., Wolpin, B. M., Jonasova, 
RefAuthors      A., Herman, P., Fox, E. A., Boggon, T. J., Eck, M. J., 
RefAuthors      Weisberg, E., Griffin, J. D., Gilliland, D. G., Meyerson, 
RefAuthors      M., Sellers, W. R.
RefTitle        Identification and characterization of a novel activating 
RefTitle        mutation of the FLT3 tyrosine kinase in AML.
RefLoc          Blood : ()
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53128
Feature           /change: a -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2579
Feature           /codon: aac -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 841
Feature           /change: N -> I
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-N841I mutation confers constitutive activity to the
Comment         -!-receptor
//
ID              BMPR2_R213X(1); standard; MUTATION; PK
Accession       K00627
Systematic name g.142363C>T, c.637C>T, r.637c>u, p.Arg213X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 15146475
RefAuthors      Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., 
RefAuthors      Tomoike, H., Morisaki, T.
RefTitle        BMPR2 mutations found in japanese patients with familial 
RefTitle        and sporadic primary pulmonary hypertension.
RefLoc          Hum Mutat 23:632 (2004)
RefNumber       [8]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [4]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142363
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1018
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 213
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 4; Patients: 5; Homozygotes: 0
//
ID              BMPR2_Q403X(1); standard; MUTATION; PK
Accession       K00628
Systematic name g.156189C>T, c.1207C>T, r.1207c>u, p.Gln403X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 15146475
RefAuthors      Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., 
RefAuthors      Tomoike, H., Morisaki, T.
RefTitle        BMPR2 mutations found in japanese patients with familial 
RefTitle        and sporadic primary pulmonary hypertension.
RefLoc          Hum Mutat 23:632 (2004)
RefNumber       [2]
RefCrossRef     PUBMED; 12139571
RefAuthors      Uehara, R., Suzuki, H., Kurokawa, N., Urashima, T., 
RefAuthors      Fujiwara, M., Matoba, M., Eto, Y.
RefTitle        Novel nonsense mutation of the BMPR-II gene in a japanese 
RefTitle        patient with familial primary pulmonary hypertension.
RefLoc          Pediatr Int 44:433-435 (2002)
RefNumber       [3]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [5]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156189
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1588
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 403
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Detected in a familiar case
//
ID              BMPR2_C420Y(1); standard; MUTATION; PK
Accession       K00629
Systematic name g.156241G>A, c.1259G>A, r.1259g>a, p.Cys420Tyr
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 15146475
RefAuthors      Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., 
RefAuthors      Tomoike, H., Morisaki, T.
RefTitle        BMPR2 mutations found in japanese patients with familial 
RefTitle        and sporadic primary pulmonary hypertension.
RefLoc          Hum Mutat 23:632 (2004)
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156241
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1640
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 420
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Detected in a sporadic case
//
ID              BMPR2_#R459X469(1); standard; MUTATION; PK
Accession       K00630
Systematic name g.165935delA, c.1375delA, r.1375dela, p.Arg459fsX14
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            30-Jun-2004 (Rel. 2, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 15146475
RefAuthors      Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., 
RefAuthors      Tomoike, H., Morisaki, T.
RefTitle        BMPR2 mutations found in japanese patients with familial 
RefTitle        and sporadic primary pulmonary hypertension.
RefLoc          Hum Mutat 23:632 (2004)
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 165935
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1756
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 459
Feature           /change: R -> DPSSQKPGKK IAWQX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Detected in a sporadic case
//
ID              FGFR1_G97D(1); standard; MUTATION; IGC21
Accession       K00631
Systematic name g.39869G>A, c.290G>A, r.290g>a, p.Gly97Asp
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the IGC21 domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 39869
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 1016
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 97
Feature           /change: G -> D
Feature           /domain: IGC21
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_Y99C(1); standard; MUTATION; IGC21
Accession       K00632
Systematic name g.39875A>G, c.296A>G, r.296a>g, p.Tyr99Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the IGC21 domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 39875
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 1022
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 99
Feature           /change: Y -> C
Feature           /domain: IGC21
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_A167S(1); standard; MUTATION; IGC22
Accession       K00633
Systematic name g.41576G>T, c.499G>T, r.499g>u, p.Ala167Ser
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the IGC22 domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 41576
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 1225
Feature           /codon: gca -> tca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 167
Feature           /change: A -> S
Feature           /domain: IGC22
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_C277Y(1); standard; MUTATION; IGC23
Accession       K00634
Systematic name g.45004G>A, c.830G>A, r.830g>a, p.Cys277Tyr
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the IGC23 domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 45004
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 1556
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 277
Feature           /change: C -> Y
Feature           /domain: IGC23
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_G70E(1); standard; MUTATION; IGC21
Accession       K00635
Systematic name g.39788G>A, c.209G>A, r.209g>a, p.Gly70Glu
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the IGC21 domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 39788
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 935
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 70
Feature           /change: G -> E
Feature           /domain: IGC21
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-donor splice site mutation
//
ID              FGFR1_M667R(1); standard; MUTATION; PK
Accession       K00636
Systematic name g.55012T>G, c.2000T>G, r.2000u>g, p.Met667Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55012
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2726
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 667
Feature           /change: M -> R
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_M771T(1); standard; MUTATION; 
Accession       K00637
Systematic name g.55834T>C, c.2312T>C, r.2312u>c, p.Met771Thr
Description     A point mutation in the exon 18 leading to an amino acid
Description     change
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55834
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 3038
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 771
Feature           /change: M -> T
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_@V102X103(1); standard; MUTATION; IGC21
Accession       K00638
Systematic name g.39882dupC, c.303dupC, r.303dupc, p.Val102fsX8
Description     A frame shift duplication mutation in the exon 3 leading to
Description     a premature stop codon in the IGC21 domain
Date            01-Nov-2005 (Rel. 2, Created)
Date            01-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: FGFR1_DNA: 39883
Feature           /change: +c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X66945; GI:120046; X66945: 1030
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 102
Feature           /change: V -> RNQQPLGQX
Feature           /domain: IGC21
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_E14K(1); standard; MUTATION; 
Accession       K00639
Systematic name g.1040G>A, c.40G>A, r.40g>a, p.Glu14Lys
Description     A point mutation in the exon 1 leading to an amino acid
Description     change
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1040
Feature           /change: g -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 378
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 14
Feature           /change: E -> K
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y49D(1); standard; MUTATION; PK
Accession       K00640
Systematic name g.1145T>G, c.145T>G, r.145u>g, p.Tyr49Asp
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1145
Feature           /change: t -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 483
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 49
Feature           /change: Y -> D
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_P314H(1); standard; MUTATION; 
Accession       K00641
Systematic name g.17092C>A, c.941C>A, r.941c>a, p.Pro314His
Description     A point mutation in the exon 8 leading to an amino acid
Description     change
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17092
Feature           /change: c -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1279
Feature           /codon: cct -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 314
Feature           /change: P -> H
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_P324L(1); standard; MUTATION; 
Accession       K00642
Systematic name g.17122C>T, c.971C>T, r.971c>u, p.Pro324Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17122
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1309
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 324
Feature           /change: P -> L
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_F354L(1); standard; MUTATION; 
Accession       K00643
Systematic name g.17213C>G, c.1062C>G, r.1062c>g, p.Phe354Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17213
Feature           /change: c -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1400
Feature           /codon: ttc -> ttg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 354
Feature           /change: F -> L
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_T367M(1); standard; MUTATION; 
Accession       K00644
Systematic name g.17251C>T, c.1100C>T, r.1100c>u, p.Thr367Met
Description     A point mutation in the exon 8 leading to an amino acid
Description     change
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17251
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1438
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 367
Feature           /change: T -> M
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y36X(1); standard; MUTATION; 
Accession       K00645
Systematic name g.1108C>A, c.108C>A, r.108c>a, p.Tyr36X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1108
Feature           /change: c -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 446
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 36
Feature           /change: Y -> X
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Q37X(1); standard; MUTATION; 
Accession       K00646
Systematic name g.1109C>T, c.109C>T, r.109c>u, p.Gln37X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1109
Feature           /change: c -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 447
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 37
Feature           /change: Q -> X
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_K44X(1); standard; MUTATION; 
Accession       K00647
Systematic name g.1130A>T, c.130A>T, r.130a>u, p.Lys44X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1130
Feature           /change: a -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 468
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 44
Feature           /change: K -> X
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_E65X(1); standard; MUTATION; PK
Accession       K00648
Systematic name g.1193G>T, c.193G>T, r.193g>u, p.Glu65X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1193
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 531
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 65
Feature           /change: E -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_C210X(1); standard; MUTATION; PK
Accession       K00649
Systematic name g.14700C>A, c.630C>A, r.630c>a, p.Cys210X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14700
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 968
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 210
Feature           /change: C -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_E223X(1); standard; MUTATION; PK
Accession       K00650
Systematic name g.14737G>T, c.667G>T, r.667g>u, p.Glu223X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14737
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1005
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 223
Feature           /change: E -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_W332X(1); standard; MUTATION; 
Accession       K00651
Systematic name g.17147G>A, c.996G>A, r.996g>a, p.Trp332X
Description     A point mutation in the exon 8 leading to a premature stop
Description     codon
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17147
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1334
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 332
Feature           /change: W -> X
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@D53X162(2); standard; MUTATION; PK
Accession       K00652
Systematic name g.1156dupG, c.156dupG, r.156dupg, p.Asp53fsX109
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the PK domain
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 1157
Feature           /change: +g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 495
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 53
Feature           /change: D -> 
Feature           /change: GPAGGRLLRQ GEGGAGLGDA VQEGRQDPQE EEVAKDPQRG
Feature           /change: GQREEGNSTT EEVTAQKCHP AGGCVIQRRE AENVYGDGVL
Feature           /change: RVWHAGNAGQ RAGEAFPSVP GPRVLLSADX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#E57X63(1); standard; MUTATION; PK
Accession       K00653
Systematic name g.1169delG, c.169delG, r.169delg, p.Glu57fsX6
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1169
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 507
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 57
Feature           /change: E -> KALTARX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#K312X335(1); standard; MUTATION; 
Accession       K00654
Systematic name g.17087delA, c.936delA, r.936dela, p.Lys312fsX23
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 17087
Feature           /change: -a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1274
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 312
Feature           /change: K -> NILRLKHQCP SHRAQTPRTG GAAX
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#P319X335(1); standard; MUTATION; 
Accession       K00655
Systematic name g.17108delA, c.957delA, r.957dela, p.Val320fsX15
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon
Date            18-Nov-2005 (Rel. 2, Created)
Date            18-Nov-2005 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 17108
Feature           /change: -a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1295
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 319
Feature           /change: P -> PCPSHRAQTP RTGGAAX
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_R86X(1); standard; MUTATION; PK
Accession       K00656
Systematic name g.1256C>T, c.256C>T, r.256c>u, p.Arg86X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1256
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 594
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 86
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#R39X158(1); standard; MUTATION; 
Accession       K00657
Systematic name g.1115delC, c.115delC, r.115delc, p.Arg39fsX11
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1115
Feature           /change: -c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 453
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 39
Feature           /change: R -> AASGPSSSAS TX
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#R42X46(1); standard; MUTATION; 
Accession       K00658
Systematic name g.1125delG, c.125delG, r.125delg, p.Ala43fsX7
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1125
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 463
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 42
Feature           /change: R -> RPSSSASTX
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@A43X162(1); standard; MUTATION; 
Accession       K00659
Systematic name g.1127G>G, c.127G>G, r.127g>g, p.Ala43Ala
Description     A point mutation in the exon 1 leading to an amino acid
Description     change
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1127
Feature           /change: g -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 465
Feature           /codon: gcc -> gcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 43
Feature           /change: A -> A
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@D53X162(3); standard; MUTATION; PK
Accession       K00660
Systematic name g.1157G>G, c.157G>G, r.157g>g, p.Asp53Asp
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1157
Feature           /change: g -> g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 495
Feature           /codon: gac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 53
Feature           /change: D -> D
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@Y60X(1); standard; MUTATION; PK
Accession       K00661
Systematic name g.1179A>A, c.179A>A, r.179a>a, p.Tyr60Tyr
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1179
Feature           /change: a -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 517
Feature           /codon: tac -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 60
Feature           /change: Y -> Y
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#V66-5(1); standard; MUTATION; PK
Accession       K00662
Systematic name g.1196delG, c.196delG, r.196delg, p.Val66fsX29
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1196
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 534
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 66
Feature           /change: V -> CWTRRRCAGG PSRSSRRRSC EGSPTGRPTX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Q100X(1); standard; MUTATION; PK
Accession       K00663
Systematic name g.12511C>T, c.298C>T, r.298c>u, p.Gln100X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 12511
Feature           /change: c -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 636
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 100
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#V116X155(1); standard; MUTATION; PK
Accession       K00664
Systematic name g.12560T>A, c.347T>A, r.347u>a, p.Val116Glu
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 12560
Feature           /change: t -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 685
Feature           /codon: gtg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 116
Feature           /change: V -> E
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@L117X162(1); standard; MUTATION; PK
Accession       K00665
Systematic name g.12564A>A, c.351A>A, r.351a>a, p.Leu117Leu
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 12564
Feature           /change: a -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 689
Feature           /codon: tta -> tta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 117
Feature           /change: L -> L
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_E138X(1); standard; MUTATION; PK
Accession       K00666
Systematic name g.13448G>T, c.412G>T, r.412g>u, p.Glu138X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 13448
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 750
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 138
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_C158X(1); standard; MUTATION; PK
Accession       K00667
Systematic name g.14469delT, c.474delT, r.474delu, p.Gln159fsX1
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
RefNumber       [3]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14469
Feature           /change: -t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 812
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 158
Feature           /change: C -> CSX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_L167R(1); standard; MUTATION; PK
Accession       K00668
Systematic name g.14495T>G, c.500T>G, r.500u>g, p.Leu167Arg
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14495
Feature           /change: t -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 838
Feature           /codon: ctg -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 167
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@S169X265(1); standard; MUTATION; PK
Accession       K00669
Systematic name g.14501G>G, c.506G>G, r.506g>g, p.Ser169Ser
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14501
Feature           /change: g -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 844
Feature           /codon: agc -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 169
Feature           /change: S -> S
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@I172X265(1); standard; MUTATION; PK
Accession       K00670
Systematic name g.14511T>T, c.516T>T, r.516u>u, p.Ile172Ile
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14511
Feature           /change: t -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 854
Feature           /codon: att -> att; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 172
Feature           /change: I -> I
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@P222X287(1); standard; MUTATION; PK
Accession       K00671
Systematic name g.14733dupG, c.663dupG, r.663dupg, p.Pro222fsX43
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 14734
Feature           /change: +g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1002
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 222
Feature           /change: P -> 
Feature           /change: ARDCQRPGHL LRLQGGHLVG WGHPLQHHHG SVPLRRGQHL QVVX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#S240X285(1); standard; MUTATION; PK
Accession       K00672
Systematic name g.14788delT, c.718delT, r.718delu, p.Ser240fsX46
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14788
Feature           /change: -t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1056
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 240
Feature           /change: S -> 
Feature           /change: RLGSPSTTSP RVCTPSKGTT STSCLRTSGR GATPSRATVA
Feature           /change: PRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_S240X(1); standard; MUTATION; PK
Accession       K00673
Systematic name g.14789C>A, c.719C>A, r.719c>a, p.Ser240X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            12-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
RefNumber       [2]
RefCrossRef     PUBMED;     18600394
RefAuthors      Hosogi, H., Nagayama, S., Kawamura, J., Koshiba, Y., 
RefAuthors      Nomura, A., Itami, A., Okabe, H., Satoh, S., Watanabe, G., 
RefAuthors      Sakai, Y.
RefTitle        Molecular insights into Peutz-Jeghers syndrome: two 
RefTitle        probands with a germline mutation of LKB1.
RefLoc          J Gastroenterol 43:492-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14789
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1057
Feature           /codon: tcg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 240
Feature           /change: S -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_#I260X286(1); standard; MUTATION; PK
Accession       K00674
Systematic name g.15344delT, c.779delT, r.779delu, p.Ile260fsX26
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
RefNumber       [9]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [3]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15344
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1117
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 260
Feature           /change: I -> TTSCLRTSGR GATPSRATVA PRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 6; Patients: 7; Homozygotes: 0
//
ID              STK11_#F264X285(1); standard; MUTATION; PK
Accession       K00675
Systematic name g.15355delT, c.790delT, r.790delu, p.Phe264fsX22
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
RefNumber       [2]
RefCrossRef     PUBMED; 17010210
RefAuthors      Thakur, N., Reddy, D. N., Rao, G. V., Mohankrishna, P., 
RefAuthors      Singh, L., Chandak, G. R.
RefTitle        A novel mutation in STK11 gene is associated with Peutz-
RefTitle        Jeghers Syndrome in Indian patients.
RefLoc          BMC Med Genet 7:73
RefNumber       [3]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15355
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1128
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 264
Feature           /change: F -> LRTSGRGATP SRATVAPRSL TCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              STK11_@E265X284(1); standard; MUTATION; PK
Accession       K00676
Systematic name g.15357_15358insA, c.792_793insA, r.792_793insa,
Systematic name p.Glu265fsX19
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: STK11_DNA: 15358
Feature           /change: +a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1131
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 265
Feature           /change: E -> REHREGELRH PGRLWPPALX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@P281X284(1); standard; MUTATION; PK
Accession       K00677
Systematic name g.15407C>C, c.842C>C, r.842c>c, p.Pro281Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15407
Feature           /change: c -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1180
Feature           /codon: ccg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 281
Feature           /change: P -> P
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_#I303-3(2); standard; MUTATION; PK
Accession       K00678
Systematic name g.16080delA, c.907delA, r.907dela, p.Ile303fsX32
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 16080
Feature           /change: -a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1245
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 303
Feature           /change: I -> SGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_R304P(1); standard; MUTATION; PK
Accession       K00679
Systematic name g.16084G>C, c.911G>C, r.911g>c, p.Arg304Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 16084
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1249
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 304
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_#S307X335(1); standard; MUTATION; PK
Accession       K00680
Systematic name g.17072delC, c.921delC, r.921delc, p.Trp308fsX27
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2006 (Rel. 2, Created)
Date            30-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16287113
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., 
RefAuthors      Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, 
RefAuthors      E., Santer, R., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic STK11 deletions in peutz-
RefTitle        jeghers syndrome.
RefLoc          Hum Mutat:513-519 (2005)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 17072
Feature           /change: -c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1259
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 307
Feature           /change: S -> SGSGRNILRL KHQCPSHRAQ TPRTGGAAX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_A883S(1); standard; MUTATION; PK
Accession       K00681
Systematic name g.44057G>T, c.2647G>T, r.2647g>u, p.Ala883Ser
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            31-May-2006 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 15947103
RefAuthors      Rossi, S., Fugazzola, L., De Pasquale, L., Braidotti, P., 
RefAuthors      Cirello, V., Beck-Peccoz, P., Bosari, S., Bastagli, A.
RefTitle        Medullary and papillary carcinoma of the thyroid gland 
RefTitle        occurring as a collision tumour: report of three cases 
RefTitle        with molecular analysis and review of the literature.
RefLoc          Endocr Relat Cancer:281-289 (2005)
RefNumber       [13]
RefCrossRef     PUBMED; 16532227
RefAuthors      Toledo, S. P., dos Santos, M. A., Toledo, R. d. e.  . A., 
RefAuthors      Lourenco, D. M.
RefTitle        Impact of RET proto-oncogene analysis on the clinical 
RefTitle        management of multiple endocrine neoplasia type 2.
RefLoc          Clinics (Sao Paulo) 61:59-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44057
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2842
Feature           /codon: gct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 883
Feature           /change: A -> S
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
Comment         -!-The patients in one family harboured, besides medullary
Comment         -!-cancer and C-cell hyperplasia, distinct foci of papillary
Comment         -!-thyroid cancer, which was positive for Val600Glu BRAF
Comment         -!-mutation
//
ID              RET_R694Q(1); standard; MUTATION; 
Accession       K00682
Systematic name g.38618G>A, c.2081G>A, r.2081g>a, p.Arg694Gln
Description     A point mutation in the exon 11 leading to an amino acid
Description     change
Date            31-May-2006 (Rel. 2, Created)
Date            31-May-2006 (Rel. 2, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15472167
RefAuthors      Orgiana, G., Pinna, G., Camedda, A., De Falco, V., 
RefAuthors      Santoro, M., Melillo, R. M., Elisei, R., Romei, C., Lai, 
RefAuthors      S., Carcassi, C., Mariotti, S.
RefTitle        A new germline RET mutation apparently devoid of 
RefTitle        transforming activity serendipitously discovered in a 
RefTitle        patient with atrophic autoimmune thyroiditis and primary 
RefTitle        ovarian failure.
RefLoc          J Clin Endocrinol Metab:4810-4816 (2004)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 38618
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2276
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 694
Feature           /change: R -> Q
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-atrophic Hashimoto's thyroiditis and primary ovarian
Comment         -!-failure
//
ID              RET_R912P(1); standard; MUTATION; PK
Accession       K00683
Systematic name g.45887G>C, c.2735G>C, r.2735g>c, p.Arg912Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            31-May-2006 (Rel. 2, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 15240641
RefAuthors      Jimenez, C., Dang, G. T., Schultz, P. N., El-Naggar, A., 
RefAuthors      Shapiro, S., Barnes, E. A., Evans, D. B., Vassilopoulou-
RefAuthors      Sellin, R., Gagel, R. F., Cote, G. J., Hoff, A. O.
RefTitle        A novel point mutation of the RET protooncogene involving 
RefTitle        the second intracellular tyrosine kinase domain in a 
RefTitle        family with medullary thyroid carcinoma.
RefLoc          J Clin Endocrinol Metab:3521-3526 (2004)
RefNumber       [6]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 45887
Feature           /change: g -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2930
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 912
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 2; Patients: 12; Homozygotes: 0
//
ID              CHEK2_H371Y(1); standard; MUTATION; PK
Accession       K00685
Systematic name g.49852C>T, c.1111C>T, r.1111c>u, p.His371Tyr
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            24-Jun-2008 (Rel. 2, Created)
Date            24-Jun-2008 (Rel. 2, Last updated, Version 2)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 49852
Feature           /change: c -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1147
Feature           /codon: cac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 371
Feature           /change: H -> Y
Feature           /domain: PK
Diagnosis       
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              CHEK2_E321K(1); standard; MUTATION; PK
Accession       K00686
Systematic name g.45825G>A, c.961G>A, r.961g>a, p.Glu321Lys
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            24-Jun-2008 (Rel. 2, Created)
Date            24-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 45825
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 997
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 321
Feature           /change: E -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_G687R(1); standard; MUTATION; PK
Accession       K00687
Systematic name g.55340G>A, c.2059G>A, r.2059g>a, p.Gly687Arg
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 15845591
RefAuthors      Sato, N., Hasegawa, T., Hori, N., Fukami, M., Yoshimura, 
RefAuthors      Y., Ogata, T.
RefTitle        Gonadotrophin therapy in Kallmann syndrome caused by 
RefTitle        heterozygous mutations of the gene for fibroblast growth 
RefTitle        factor receptor 1: report of three families: case report.
RefLoc          Hum Reprod 20:2173-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55340
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2785
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 687
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 5; Homozygotes: 0
//
ID              FGFR1_H621R(1); standard; MUTATION; PK
Accession       K00688
Systematic name g.54725A>G, c.1862A>G, r.1862a>g, p.His621Arg
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [7]
RefCrossRef     PUBMED; 17154279
RefAuthors      Dode, C., Fouveaut, C., Mortier, G., Janssens, S., 
RefAuthors      Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, 
RefAuthors      C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, 
RefAuthors      S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, 
RefAuthors      P., Young, J., Delpech, M., Hardelin, J. P.
RefTitle        Novel FGFR1 sequence variants in Kallmann syndrome, and 
RefTitle        genetic evidence that the FGFR1c isoform is required in 
RefTitle        olfactory bulb and palate morphogenesis.
RefLoc          Hum Mutat 28:97-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 54725
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2588
Feature           /codon: cac -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 621
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR1_R661X(1); standard; MUTATION; PK
Accession       K00689
Systematic name g.54993C>T, c.1981C>T, r.1981c>u, p.Arg661X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [7]
RefCrossRef     PUBMED; 17154279
RefAuthors      Dode, C., Fouveaut, C., Mortier, G., Janssens, S., 
RefAuthors      Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, 
RefAuthors      C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, 
RefAuthors      S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, 
RefAuthors      P., Young, J., Delpech, M., Hardelin, J. P.
RefTitle        Novel FGFR1 sequence variants in Kallmann syndrome, and 
RefTitle        genetic evidence that the FGFR1c isoform is required in 
RefTitle        olfactory bulb and palate morphogenesis.
RefLoc          Hum Mutat 28:97-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 54993
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2707
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 661
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              FGFR1_S685F(1); standard; MUTATION; PK
Accession       K00690
Systematic name g.55335C>T, c.2054C>T, r.2054c>u, p.Ser685Phe
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [7]
RefCrossRef     PUBMED; 17154279
RefAuthors      Dode, C., Fouveaut, C., Mortier, G., Janssens, S., 
RefAuthors      Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, 
RefAuthors      C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, 
RefAuthors      S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, 
RefAuthors      P., Young, J., Delpech, M., Hardelin, J. P.
RefTitle        Novel FGFR1 sequence variants in Kallmann syndrome, and 
RefTitle        genetic evidence that the FGFR1c isoform is required in 
RefTitle        olfactory bulb and palate morphogenesis.
RefLoc          Hum Mutat 28:97-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55335
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2780
Feature           /codon: tct -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 685
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR1_I693F(1); standard; MUTATION; PK
Accession       K00691
Systematic name g.55358A>T, c.2077A>T, r.2077a>u, p.Ile693Phe
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [7]
RefCrossRef     PUBMED; 17154279
RefAuthors      Dode, C., Fouveaut, C., Mortier, G., Janssens, S., 
RefAuthors      Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, 
RefAuthors      C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, 
RefAuthors      S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, 
RefAuthors      P., Young, J., Delpech, M., Hardelin, J. P.
RefTitle        Novel FGFR1 sequence variants in Kallmann syndrome, and 
RefTitle        genetic evidence that the FGFR1c isoform is required in 
RefTitle        olfactory bulb and palate morphogenesis.
RefLoc          Hum Mutat 28:97-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55358
Feature           /change: a -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2803
Feature           /codon: atc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 693
Feature           /change: I -> F
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
ID              FGFR1_I538V(1); standard; MUTATION; PK
Accession       K00692
Systematic name g.52262A>G, c.1612A>G, r.1612a>g, p.Ile538Val
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [5]
RefCrossRef     PUBMED; 16764984
RefAuthors      Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., 
RefAuthors      Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, 
RefAuthors      F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., 
RefAuthors      Mohammadi, M., Crowley, W. F.
RefTitle        Mutations in fibroblast growth factor receptor 1 cause 
RefTitle        Kallmann syndrome with a wide spectrum of reproductive 
RefTitle        phenotypes.
RefLoc          Mol Cell Endocrinol 254-255:60-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 52262
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2338
Feature           /codon: atc -> gtc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 538
Feature           /change: I -> V
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 3; Patients: 5; Homozygotes: 0
//
ID              FGFR1_Y585X(1); standard; MUTATION; PK
Accession       K00693
Systematic name g.53650C>A, c.1755C>A, r.1755c>a, p.Tyr585X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16764984
RefAuthors      Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., 
RefAuthors      Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, 
RefAuthors      F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., 
RefAuthors      Mohammadi, M., Crowley, W. F.
RefTitle        Mutations in fibroblast growth factor receptor 1 cause 
RefTitle        Kallmann syndrome with a wide spectrum of reproductive 
RefTitle        phenotypes.
RefLoc          Mol Cell Endocrinol 254-255:60-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 53650
Feature           /change: c -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2481
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 585
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR1_G703R(1); standard; MUTATION; PK
Accession       K00694
Systematic name g.55388G>C, c.2107G>C, r.2107g>c, p.Gly703Arg
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16764984
RefAuthors      Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., 
RefAuthors      Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, 
RefAuthors      F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., 
RefAuthors      Mohammadi, M., Crowley, W. F.
RefTitle        Mutations in fibroblast growth factor receptor 1 cause 
RefTitle        Kallmann syndrome with a wide spectrum of reproductive 
RefTitle        phenotypes.
RefLoc          Mol Cell Endocrinol 254-255:60-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55388
Feature           /change: g -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2833
Feature           /codon: ggt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 703
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 8; Homozygotes: 0
//
ID              FGFR1_G703S(1); standard; MUTATION; PK
Accession       K00695
Systematic name g.55388G>A, c.2107G>A, r.2107g>a, p.Gly703Ser
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16764984
RefAuthors      Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., 
RefAuthors      Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, 
RefAuthors      F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., 
RefAuthors      Mohammadi, M., Crowley, W. F.
RefTitle        Mutations in fibroblast growth factor receptor 1 cause 
RefTitle        Kallmann syndrome with a wide spectrum of reproductive 
RefTitle        phenotypes.
RefLoc          Mol Cell Endocrinol 254-255:60-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55388
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2833
Feature           /codon: ggt -> agt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 703
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR1_R622G(1); standard; MUTATION; PK
Accession       K00696
Systematic name g.54727C>G, c.1864C>G, r.1864c>g, p.Arg622Gly
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED; 16757108
RefAuthors      Zenaty, D., Bretones, P., Lambe, C., Guemas, I., David, 
RefAuthors      M., Leger, J., de Roux, N.
RefTitle        Paediatric phenotype of Kallmann syndrome due to mutations 
RefTitle        of fibroblast growth factor receptor 1 (FGFR1).
RefLoc          Mol Cell Endocrinol 254-255:78-83
RefNumber       [10]
RefCrossRef     PUBMED; 20536592
RefAuthors      Bailleul-Forestier, I., Gros, C., Zenaty, D., Bennaceur, 
RefAuthors      S., Leger, J., de Roux, N.
RefTitle        Dental agenesis in Kallmann syndrome individuals with 
RefTitle        FGFR1 mutations.
RefLoc          Int J Paediatr Dent 20:305-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 54727
Feature           /change: c -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2590
Feature           /codon: cga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 622
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              FGFR1_R622Q(1); standard; MUTATION; PK
Accession       K00697
Systematic name g.54728G>A, c.1865G>A, r.1865g>a, p.Arg622Gln
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED; 16757108
RefAuthors      Zenaty, D., Bretones, P., Lambe, C., Guemas, I., David, 
RefAuthors      M., Leger, J., de Roux, N.
RefTitle        Paediatric phenotype of Kallmann syndrome due to mutations 
RefTitle        of fibroblast growth factor receptor 1 (FGFR1).
RefLoc          Mol Cell Endocrinol 254-255:78-83
RefNumber       [10]
RefCrossRef     PUBMED; 20536592
RefAuthors      Bailleul-Forestier, I., Gros, C., Zenaty, D., Bennaceur, 
RefAuthors      S., Leger, J., de Roux, N.
RefTitle        Dental agenesis in Kallmann syndrome individuals with 
RefTitle        FGFR1 mutations.
RefLoc          Int J Paediatr Dent 20:305-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 54728
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2591
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 622
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 3; Patients: 5; Homozygotes: 0
//
ID              FGFR1_P722H(1); standard; MUTATION; PK
Accession       K00698
Systematic name g.55446C>A, c.2165C>A, r.2165c>a, p.Pro722His
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            25-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55446
Feature           /change: c -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2891
Feature           /codon: ccc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 722
Feature           /change: P -> H
Feature           /domain: PK
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              FGFR1_Q680X(1); standard; MUTATION; PK
Accession       K00699
Systematic name g.55050C>T, c.2038C>T, r.2038c>u, p.Gln680X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            25-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55050
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2764
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 680
Feature           /change: Q -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              FGFR1_#K618X654(1); standard; MUTATION; PK
Accession       K00700
Systematic name g.53747delA, c.1852delA, r.1852dela, p.Lys618fsX13
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [6]
RefCrossRef     PUBMED; 16882753
RefAuthors      Trarbach, E. B., Costa, E. M., Versiani, B., de Castro, 
RefAuthors      M., Baptista, M. T., Garmes, H. M., de Mendonca, B. B., 
RefAuthors      Latronico, A. C.
RefTitle        Novel fibroblast growth factor receptor 1 mutations in 
RefTitle        patients with congenital hypogonadotropic hypogonadism 
RefTitle        with and without anosmia.
RefLoc          J Clin Endocrinol Metab 91:4006-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: FGFR1_DNA: 53747
Feature           /change: -a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2578
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 618
Feature           /change: K -> SAYTETWQPG MSWX
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 2; Patients: 5; Homozygotes: 0
//
ID              FGFR1_P722S(1); standard; MUTATION; PK
Accession       K00701
Systematic name g.55445C>T, c.2164C>T, r.2164c>u, p.Pro722Ser
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            25-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [6]
RefCrossRef     PUBMED; 16882753
RefAuthors      Trarbach, E. B., Costa, E. M., Versiani, B., de Castro, 
RefAuthors      M., Baptista, M. T., Garmes, H. M., de Mendonca, B. B., 
RefAuthors      Latronico, A. C.
RefTitle        Novel fibroblast growth factor receptor 1 mutations in 
RefTitle        patients with congenital hypogonadotropic hypogonadism 
RefTitle        with and without anosmia.
RefLoc          J Clin Endocrinol Metab 91:4006-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55445
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2890
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 722
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BTK_K420X(1); standard; MUTATION; TK
Accession       K00702
Systematic name g.64600A>T, c.1258A>T, r.1258a>u, p.Lys420X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64600
Feature           /change: a -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1390
Feature           /codon: aaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 420
Feature           /change: K -> X
Feature           /domain: TK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Patient had leukemia. Carried also in the other allele a
Comment         -!-1-bp deletion in codon 386.
//
ID              BTK_L402P(2); standard; MUTATION; TK
Accession       K00703
Systematic name g.64547T>C, c.1205T>C, r.1205u>c, p.Leu402Pro
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64547
Feature           /change: t -> c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1337
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 402
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BTK_K430E(2); standard; MUTATION; TK
Accession       K00704
Systematic name g.64630A>G, c.1288A>G, r.1288a>g, p.Lys430Glu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64630
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1420
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> E
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_L512P(2); standard; MUTATION; TK
Accession       K00705
Systematic name g.65392T>C, c.1535T>C, r.1535u>c, p.Leu512Pro
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65392
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1667
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 512
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R544S(2); standard; MUTATION; TK
Accession       K00706
Systematic name g.67487G>T, c.1632G>T, r.1632g>u, p.Arg544Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67487
Feature           /change: g -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1764
Feature           /codon: agg -> agt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R544G(2); standard; MUTATION; TK
Accession       K00707
Systematic name g.66844A>G, c.1630A>G, r.1630a>g, p.Arg544Gly
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 66844
Feature           /change: a -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1762
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> G
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_P566S(2); standard; MUTATION; TK
Accession       K00708
Systematic name g.67551C>T, c.1696C>T, r.1696c>u, p.Pro566Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67551
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1828
Feature           /codon: ccg -> tcg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 566
Feature           /change: P -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_S575R(2); standard; MUTATION; TK
Accession       K00709
Systematic name g.67580C>A, c.1725C>A, r.1725c>a, p.Ser575Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67580
Feature           /change: c -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1857
Feature           /codon: agc -> aga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 575
Feature           /change: S -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              BTK_D579V(1); standard; MUTATION; TK
Accession       K00710
Systematic name g.67591A>T, c.1736A>T, r.1736a>u, p.Asp579Val
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67591
Feature           /change: a -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1868
Feature           /codon: gac -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 579
Feature           /change: D -> V
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_K466X(2); standard; MUTATION; TK
Accession       K00711
Systematic name g.65253A>T, c.1396A>T, r.1396a>u, p.Lys466X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65253
Feature           /change: a -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1528
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 466
Feature           /change: K -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_W581X(2); standard; MUTATION; TK
Accession       K00712
Systematic name g.67598G>A, c.1743G>A, r.1743g>a, p.Trp581X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67598
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1875
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 581
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Q612X(2); standard; MUTATION; TK
Accession       K00713
Systematic name g.68208C>T, c.1834C>T, r.1834c>u, p.Gln612X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68208
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1966
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 612
Feature           /change: Q -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BTK_@S572X587(2); standard; MUTATION; TK
Accession       K00714
Systematic name g.67570_67571insT, c.1715_1716insT, r.1715_1716insu,
Systematic name p.Lys573fsX6
Description     A frame shift insertion mutation in the exon 17 leading to
Description     a premature stop codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 67571
Feature           /change: +t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1848
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 572
Feature           /change: S -> SQVQQQIX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              BTK_#Q612X648(2); standard; MUTATION; TK
Accession       K00715
Systematic name g.68208delC, c.1834delC, r.1834delc, p.Gln612fsX36
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68208
Feature           /change: -c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1966
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 612
Feature           /change: Q -> KAYVSTGLIW LQRRYIPSCT VVGMRKQMSV PLSKFFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_W581S(1); standard; MUTATION; TK
Accession       K00716
Systematic name g.67597G>C, c.1742G>C, r.1742g>c, p.Trp581Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16405441
RefAuthors      Liu, A. J., Dao-Ung, L. P., McDonald, D., Nanan, R.
RefTitle        Chronic gingivitis in a new BTK mutation.
RefLoc          Eur J Haematol:171-175 (2006)
DB CrossRef     BTKbase; A1063
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67597
Feature           /change: g -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1874
Feature           /codon: tgg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 581
Feature           /change: W -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Mild XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#D426X431(1); standard; MUTATION; TK
Accession       K00717
Systematic name g.64620delC, c.1278delC, r.1278delc, p.Asp426fsX5
Description     A frame shift deletion mutation in the exon 14 leading to a
Description     premature stop codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 64620
Feature           /change: -c
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1410
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 426
Feature           /change: D -> EWPSRX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G613A(1); standard; MUTATION; TK
Accession       K00718
Systematic name g.68212G>C, c.1838G>C, r.1838g>c, p.Gly613Ala
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
DB CrossRef     BTKbase; A1061
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68212
Feature           /change: g -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1970
Feature           /codon: ggc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 613
Feature           /change: G -> A
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_M630R(1); standard; MUTATION; TK
Accession       K00719
Systematic name g.68263T>G, c.1889T>G, r.1889u>g, p.Met630Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68263
Feature           /change: t -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2021
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#F583X586(1); standard; MUTATION; TK
Accession       K00720
Systematic name g.67604delT, c.1749delT, r.1749delu, p.Phe583fsX3
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 67604
Feature           /change: -t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1881
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 583
Feature           /change: F -> LGFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G419E(1); standard; MUTATION; TK
Accession       K00721
Systematic name g.64598G>A, c.1256G>A, r.1256g>a, p.Gly419Glu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64598
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1388
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 419
Feature           /change: G -> E
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_W588R(1); standard; MUTATION; TK
Accession       K00722
Systematic name g.68136T>C, c.1762T>C, r.1762u>c, p.Trp588Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68136
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1894
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 588
Feature           /change: W -> R
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_C464X(1); standard; MUTATION; TK
Accession       K00723
Systematic name g.65249C>A, c.1392C>A, r.1392c>a, p.Cys464X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1020
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65249
Feature           /change: c -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1524
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 464
Feature           /change: C -> X
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Diagnosis       Classical XLA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BTK_#R641X646(1); standard; MUTATION; TK
Accession       K00724
Systematic name g.71533delC, c.1921delC, r.1921delc, p.Arg641fsX7
Description     A frame shift deletion mutation in the exon 19 leading to a
Description     premature stop codon in the TK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            27-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 71533
Feature           /change: -c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2053
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> VPLSKFFX
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_R621H(1); standard; MUTATION; PK
Accession       K00725
Systematic name g.13181G>A, c.1862G>A, r.1862g>a, p.Arg621His
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            27-Jun-2008 (Rel. 2, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [33]
RefCrossRef     PUBMED; 17033969
RefAuthors      Toydemir, R. M., Brassington, A. E., Bayrak-Toydemir, P., 
RefAuthors      Krakowiak, P. A., Jorde, L. B., Whitby, F. G., Longo, N., 
RefAuthors      Viskochil, D. H., Carey, J. C., Bamshad, M. J.
RefTitle        A novel mutation in FGFR3 causes camptodactyly, tall 
RefTitle        stature, and hearing loss (CATSHL) syndrome.
RefLoc          Am J Hum Genet 79:935-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13181
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1901
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 621
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 1; Patients: 20; Homozygotes: 0
Comment         -!-Diagnosed by camptodactyly, tall stature, scoloisis and
Comment         -!-hearing loss (CATSHL syndrome)
//
ID              FGFR1_R609X(1); standard; MUTATION; PK
Accession       K00726
Systematic name g.53720C>T, c.1825C>T, r.1825c>u, p.Arg609X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the PK domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 53720
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2551
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 609
Feature           /change: R -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 
Comment         -!-disease: nonsundromic cleft lip and palate (NS CLP)
//
ID              BTK_D639Y(1); standard; MUTATION; TK
Accession       K00727
Systematic name g.71527G>T, c.1915G>T, r.1915g>u, p.Asp639Tyr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71527
Feature           /change: g -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2047
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 639
Feature           /change: D -> Y
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R544S(3); standard; MUTATION; TK
Accession       K00728
Systematic name g.67487G>C, c.1632G>C, r.1632g>c, p.Arg544Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67487
Feature           /change: g -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1764
Feature           /codon: agg -> agc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> S
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_E605G(1); standard; MUTATION; TK
Accession       K00729
Systematic name g.68188A>G, c.1814A>G, r.1814a>g, p.Glu605Gly
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68188
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1946
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 605
Feature           /change: E -> G
Feature           /domain: TK
Diagnosis       X-linked agammaglobulinemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ROR2_#Y646X702(1); standard; MUTATION; STR1
Accession       K00730
Systematic name g.226606delA, c.1937delA, r.1937dela, p.Tyr646fsX58
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the STR1 domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ROR2_DNA: 226606
Feature           /change: -a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M97639; GI:13878706; HSROR2A: 2136
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ROR2_HUMAN: 646
Feature           /change: Y -> 
Feature           /change: SSCWGTRCCL SAGWPQRPSC TASSPSTQTS GPTVWSCGRS
Feature           /change: SATACSPTAG TPTRMWWRX
Feature           /domain: STR1
Diagnosis       Robinow syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              ROR2_R119X(1); standard; MUTATION; FZ
Accession       K00731
Systematic name g.193783C>T, c.355C>T, r.355c>u, p.Arg119X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the FZ domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ROR2_DNA: 193783
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M97639; GI:13878706; HSROR2A: 554
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ROR2_HUMAN: 119
Feature           /change: R -> X
Feature           /domain: FZ
Diagnosis       Robinow syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
Comment         -!-Patient has two heterozygous ROR2 mutations. Other mutation
Comment         -!-is K00732.
//
ID              ROR2_R184C(1); standard; MUTATION; KRINGLE
Accession       K00732
Systematic name g.213700C>T, c.550C>T, r.550c>u, p.Arg184Cys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the KRINGLE domain
Date            30-Jun-2008 (Rel. 2, Created)
Date            30-Jun-2008 (Rel. 2, Last updated, Version 2)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ROR2_DNA: 213700
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M97639; GI:13878706; HSROR2A: 749
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ROR2_HUMAN: 184
Feature           /change: R -> C
Feature           /domain: KRINGLE
Diagnosis       Robinow syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Patient has two heterozygous ROR2 mutations. Other mutation
Comment         -!-is K00731.
//
ID              FLT4_E1106K(1); standard; MUTATION; PK
Accession       K00733
Systematic name g.36463G>A, c.3316G>A, r.3316g>a, p.Glu1106Lys
Description     A point mutation in the exon 24 leading to an amino acid
Description     change in the PK domain
Date            06-Aug-2008 (Rel. 2, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED;     16924388
RefAuthors      Spiegel, R., Ghalamkarpour, A., Daniel-Spiegel, E., 
RefAuthors      Vikkula, M., Shalev, S. A.
RefTitle        Wide clinical spectrum in a family with hereditary 
RefTitle        lymphedema type I due to a novel missense mutation in 
RefTitle        VEGFR3.
RefLoc          J Hum Genet 51:846-50
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 36463
Feature           /change: g -> a
Feature           /genomic_region: exon; 24
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3337
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1106
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Diagnosis       
Occurrence      Families: 2; Patients: 34; Homozygotes: 0
//
ID              KIT_L611L(1); standard; MUTATION; PK
Accession       K00734
Systematic name g.70866G>A, c.1833G>A, r.1833g>a, p.Leu611Leu
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            13-Aug-2008 (Rel. 2, Created)
Date            13-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70866
Feature           /change: a -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1854
Feature           /codon: tta -> tta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 611
Feature           /change: L -> L
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              NTRK1_D770N(1); standard; MUTATION; PK
Accession       K00735
Systematic name g.21643G>A, c.2308G>A, r.2308g>a, p.Asp770Asn
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2008 (Rel. 2, Created)
Date            15-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 21643
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2428
Feature           /codon: gat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 770
Feature           /change: D -> N
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              NTRK1_L558F(1); standard; MUTATION; PK
Accession       K00736
Systematic name g.16523C>T, c.1672C>T, r.1672c>u, p.Leu558Phe
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2008 (Rel. 2, Created)
Date            15-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16523
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1792
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 558
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#G276X286(1); standard; MUTATION; PK
Accession       K00737
Systematic name g.15391delG, c.826delG, r.826delg, p.Gly276fsX10
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Aug-2008 (Rel. 2, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [12]
RefCrossRef     PUBMED; 18495044
RefAuthors      Yoo, J. H., Yoo, J. H., Choi, Y. J., Kang, J. G., Sun, Y. 
RefAuthors      K., Ki, C. S., Lee, K. A., Choi, J. R.
RefTitle        A novel de novo mutation in the serine-threonine kinase 
RefTitle        STK11 gene in a Korean patient with Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          BMC Med Genet 9:44
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15391
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1164
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 276
Feature           /change: G -> ATVAPRSLTC X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_#I274X286(1); standard; MUTATION; PK
Accession       K00738
Systematic name g.15386delT, c.821delT, r.821delu, p.Ile274fsX12
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Aug-2008 (Rel. 2, Created)
Date            22-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15386
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1159
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 274
Feature           /change: I -> TRATVAPRSL TCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_E480X(1); standard; MUTATION; PK
Accession       K00739
Systematic name g.82548G>T, c.1438G>T, r.1438g>u, p.Glu480X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            25-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82548
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3010
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 480
Feature           /change: E -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-A new dysmorphic syndrome with mutations in either
Comment         -!-transforming groth factor-beta receptor 1 (TGFBR1) or
Comment         -!-(TGFBR2) was reported as Loeys-Dietz syndrome(LDS)(2)
Comment         -!-characterized by hypertelorism (wide spaced eyes),cleft
Comment         -!-palate or bifid uvula, aortic root aneurysm, arterial
Comment         -!-tortuosity and aneurysmus of other vessels.
//
ID              TGFBR2_T516K(1); standard; MUTATION; PK
Accession       K00740
Systematic name g.85565C>A, c.1547C>A, r.1547c>a, p.Thr516Lys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 17979970
RefAuthors      van Steensel, M. A., van Geel, M., Parren, L. J., 
RefAuthors      Schrander-Stumpel, C. T., Marcus-Soekarman, D.
RefTitle        Shprintzen-Goldberg syndrome associated with a novel 
RefTitle        missense mutation in TGFBR2.
RefLoc          Exp Dermatol 17:362-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85565
Feature           /change: c -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3119
Feature           /codon: acg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 516
Feature           /change: T -> K
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Shprintzen-Goldberg syndrome (SGS) associated with a novel
Comment         -!-missence mutation in TGFBR2.Shprintzen-Goldberg syndrome
Comment         -!-(SGS) is a rare disorder characterized by a Marfan-like
Comment         -!-habitus, mental retardation and craniosynostosis. Cardiac
Comment         -!-abnormalities, such as aortic root dilation have also been
Comment         -!-noted as well as several skeletal abnormalities.Its
Comment         -!-nosological status is unclear as it is hard to delineate
Comment         -!-SGS from similar disorders, such as Furlong, Marfan type
Comment         -!-II, Camurati-Engelmann and Loeys-Dietz syndromes.
//
ID              TGFBR2_V513E(1); standard; MUTATION; PK
Accession       K00741
Systematic name g.85556G>A, c.1538G>A, r.1538g>a, p.Val513Glu
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            25-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85556
Feature           /change: t -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3110
Feature           /codon: gtg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 513
Feature           /change: V -> E
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Patient with Loeys-Dietz syndrome Patient with Loeys-Dietz
Comment         -!-syndrome in the setting of Patient with Loeys-Dietz
Comment         -!-syndrome in the setting of a murmur, diffuse hypodontia,
Comment         -!-macrocrania, and musculo-skletal abnormalities including
Comment         -!-bilateral knee dislocations and hip dislocations.
//
ID              TGFBR2_R528H(1); standard; MUTATION; PK
Accession       K00742
Systematic name g.85601G>A, c.1583G>A, r.1583g>a, p.Arg528His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85601
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3155
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 528
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Patient with Loeys-Dietz syndrome Patient with Loeys-Dietz
Comment         -!-syndrome in the setting of Patient with Loeys-Dietz
Comment         -!-syndrome in the setting of a murmur, diffuse hypodontia,
Comment         -!-macrocrania, and musculo-skletal abnormalities including
Comment         -!-bilateral knee dislocations and hip dislocations.
//
ID              TGFBR2_D524N(1); standard; MUTATION; PK
Accession       K00743
Systematic name g.85588G>A, c.1570G>A, r.1570g>a, p.Asp524Asn
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            25-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85588
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3142
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 524
Feature           /change: D -> N
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Patient with Loeys-Dietz syndrome in the setting of Patient
Comment         -!-with Loeys-Dietz syndrome in the setting of a murmur,
Comment         -!-diffuse hypodontia, macrocrania, and musculo-skletal
Comment         -!-abnormalities including bilateral knee dislocations and hip
Comment         -!-dislocations.
//
ID              TGFBR2_E440K(1); standard; MUTATION; PK
Accession       K00744
Systematic name g.68291G>A, c.1318G>A, r.1318g>a, p.Glu440Lys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            25-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68291
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2890
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 440
Feature           /change: E -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Patient with Loeys-Dietz syndrome for apnea,diffuse
Comment         -!-hypodontia,  and musculo-skletal abnormalities.
//
ID              TGFBR2_G4W(1); standard; MUTATION; SIGNAL
Accession       K00745
Systematic name g.1016C>T, c.10C>T, r.10c>u, p.Gly4Trp
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the SIGNAL domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            25-Aug-2008 (Rel. 2, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 1016
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 1582
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 4
Feature           /change: G -> W
Feature           /domain: SIGNAL
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The patient presented with features of both MFS and
Comment         -!-Loyes-Dietz syndrome (LDS). Features such as: rapidly
Comment         -!-progressive aneurysms, dissection and tortuous vascular
Comment         -!-disease involving the aortic root and arch,
Comment         -!-thoracoabdominal aorta, and the brachio-cephalic,
Comment         -!-vertebral, internal thoracic and superior mesenteric
Comment         -!-arteries.
//
ID              TGFBR2_R528C(1); standard; MUTATION; PK
Accession       K00746
Systematic name g.85600C>T, c.1582C>T, r.1582c>u, p.Arg528Cys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2008 (Rel. 2, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [3]
RefCrossRef     PUBMED;     20144264
RefAuthors      Chen, J., Li, B., Yang, Y., Hu, J., Zhao, T., Gong, Y., 
RefAuthors      Tan, Z.
RefTitle        Mutations of the TGFBR2 gene in Chinese patients with 
RefTitle        Marfan-related syndrome.
RefLoc          Clin Invest Med 33:E14-21
RefNumber       [6]
RefCrossRef     PUBMED; 19875893
RefAuthors      Jamsheer, A., Henggeler, C., Wierzba, J., Loeys, B., De 
RefAuthors      Paepe, A., Stheneur, C. h., Badziag, N., Matuszewska, K., 
RefAuthors      Matyas, G., Latos-Bielenska, A.
RefTitle        A new sporadic case of early-onset Loeys-Dietz syndrome 
RefTitle        due to the recurrent mutation p.R528C in the TGFBR2 gene 
RefTitle        substantiates interindividual clinical variability.
RefLoc          J Appl Genet 50:405-10
RefNumber       [5]
RefCrossRef     PUBMED; 17330129
RefAuthors      LeMaire, S. A., Pannu, H., Tran-Fadulu, V., Carter, S. A., 
RefAuthors      Coselli, J. S., Milewicz, D. M.
RefTitle        Severe aortic and arterial aneurysms associated with a 
RefTitle        TGFBR2 mutation.
RefLoc          Nat Clin Pract Cardiovasc Med 4:167-71
RefNumber       [4]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85600
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3154
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 528
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 9; Patients: 9; Homozygotes: 0
Comment         -!-The patient presented with features of both MFS and
Comment         -!-Loyes-Dietz syndrome (LDS). Features such as: rapidly
Comment         -!-progressive aneurysms, dissection and tortuous vascular
Comment         -!-disease involving the aortic root and arch,
Comment         -!-thoracoabdominal aorta, and the brachio-cephalic,
Comment         -!-vertebral, internal thoracic and superior mesenteric
Comment         -!-arteries.
Comment         -!-Neonatal Marfan Syndrome.
//
ID              TGFBR2_S441F(1); standard; MUTATION; PK
Accession       K00747
Systematic name g.68295C>T, c.1322C>T, r.1322c>u, p.Ser441Phe
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2008 (Rel. 2, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED;     16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
RefNumber       [4]
RefCrossRef     PUBMED;     19159394
RefAuthors      Soylen, B., Singh, K. K., Abuzainin, A., Rommel, K., 
RefAuthors      Becker, H., Arslan-Kirchner, M., Schmidtke, J.
RefTitle        Prevalence of dural ectasia in 63 gene-mutation-positive 
RefTitle        patients with features of Marfan syndrome type 1 and Loeys-
RefTitle        Dietz syndrome and report of 22 novel FBN1 mutations.
RefLoc          Clin Genet 75:265-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68295
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2894
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 441
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Diagnosis       Hereditary nonpolyposis colorectal cancer
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Marfan syndrome (MFS) is an autosomal dominant connective
Comment         -!-tissue disorder characterized by manifestations in the
Comment         -!-cardiovascular, skeletal, ocular and other organ syatems.
//
ID              TGFBR2_N384S(1); standard; MUTATION; PK
Accession       K00748
Systematic name g.66457A>G, c.1151A>G, r.1151a>g, p.Asn384Ser
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2008 (Rel. 2, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED;     16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66457
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2723
Feature           /codon: aat -> agt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 384
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 2; Patients: 5; Homozygotes: 0
Comment         -!-Marfan syndrome (MFS) is an autosomal dominant connective
Comment         -!-tissue disorder characterized by manifestations in the
Comment         -!-cardiovascular, skeletal, ocular and other organ syatems.
//
ID              TGFBR2_R460C(1); standard; MUTATION; PK
Accession       K00749
Systematic name g.68351C>T, c.1378C>T, r.1378c>u, p.Arg460Cys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2008 (Rel. 2, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED;     16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68351
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2950
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 460
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 4; Patients: 27; Homozygotes: 0
Comment         -!-Marfan syndrome (MFS) is an autosomal dominant connective
Comment         -!-tissue disorder characterized by manifestations in the
Comment         -!-cardiovascular, skeletal, ocular and other organ syatems.
Comment         -!-Thoracic Aortic Aneurysms and Dissections (TAAD) is the
Comment         -!-major cardiovascular coplication of Marfin syndrome (MFS),
Comment         -!-a pleiotropic disorder with involvement of cardiovascular,
Comment         -!-ocular, and skeletal systems.
//
ID              TGFBR2_C396W(1); standard; MUTATION; PK
Accession       K00750
Systematic name g.66494T>G, c.1188T>G, r.1188u>g, p.Cys396Trp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2008 (Rel. 2, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED;     16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66494
Feature           /change: t -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2760
Feature           /codon: tgt -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 396
Feature           /change: C -> W
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Marfan syndrome (MFS) is an autosomal dominant connective
Comment         -!-tissue disorder characterized by manifestations in the
Comment         -!-cardiovascular, skeletal, ocular and other organ syatems.
//
ID              TGFBR2_R497X(1); standard; MUTATION; PK
Accession       K00751
Systematic name g.82599C>T, c.1489C>T, r.1489c>u, p.Arg497X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            26-Aug-2008 (Rel. 2, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED;     16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
RefNumber       [22]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82599
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3061
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 497
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Diagnosis       Hereditary nonpolyposis colorectal cancer
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Comment         -!-Patient demonstrates with Loeys-Dietz aortic aneurysm
Comment         -!-syndrome (LDS). He had involvement of skeletal
Comment         -!-system(pectus excavatum, scoliosis, and arachnodactyly with
Comment         -!-positive thumb and wrist signs).
//
ID              TGFBR2_R460H(1); standard; MUTATION; PK
Accession       K00752
Systematic name g.68352G>A, c.1379G>A, r.1379g>a, p.Arg460His
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2008 (Rel. 2, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16885183
RefAuthors      Law, C., Bunyan, D., Castle, B., Day, L., Simpson, I., 
RefAuthors      Westwood, G., Keeton, B.
RefTitle        Clinical features in a family with an R460H mutation in 
RefTitle        transforming growth factor beta receptor 2 gene.
RefLoc          J Med Genet 43:908-16
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68352
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2951
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 460
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 3; Patients: 22; Homozygotes: 0
Comment         -!-Thoracic Aortic Aneurysms and Dissections (TAAD) is the
Comment         -!-major cardiovascular coplication of Marfin syndrome (MFS),
Comment         -!-a pleiotropic disorder with involvement of cardiovascular,
Comment         -!-ocular, and skeletal systems.
//
ID              TGFBR2_I510S(1); standard; MUTATION; PK
Accession       K00753
Systematic name g.85547T>G, c.1529T>G, r.1529u>g, p.Ile510Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            10-Feb-2011 (Rel. 3, Created)
Date            10-Feb-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19883511
RefAuthors      Drera, B., Ritelli, M., Zoppi, N., Wischmeijer, A., Gnoli, 
RefAuthors      M., Fattori, R., Calzavara-Pinton, P. G., Barlati, S., 
RefAuthors      Colombi, M.
RefTitle        Loeys-Dietz syndrome type I and type II: clinical findings 
RefTitle        and novel mutations in two Italian patients.
RefLoc          Orphanet J Rare Dis 4:24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85547
Feature           /change: t -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3101
Feature           /codon: atc -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 510
Feature           /change: I -> S
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_W221X(1); standard; MUTATION; PK
Accession       K00754
Systematic name g.3001G>A, c.662G>A, r.662g>a, p.Trp221X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3001
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 944
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 221
Feature           /change: W -> X
Feature           /domain: PK
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_#S225X235(1); standard; MUTATION; PK
Accession       K00755
Systematic name g.3012delA, c.673delA, r.673dela, p.Ser225fsX32
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [4]
RefCrossRef     PUBMED; 19508727
RefAuthors      Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., 
RefAuthors      Riedel, F., Hoermann, K., Bugert, P.
RefTitle        Mutation analysis of 'Endoglin' and 'Activin receptor-like 
RefTitle        kinase' genes in German patients with hereditary 
RefTitle        hemorrhagic telangiectasia and the value of rapid 
RefTitle        genotyping using an allele-specific PCR-technique.
RefLoc          BMC Med Genet 10:53
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3012
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 955
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 225
Feature           /change: S -> VWPSRSSPRG MNSPGSGRLR SITQYCSDTT TSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       
Occurrence      Families: 5; Patients: 7; Homozygotes: 0
Comment         -!-Frameshift deletion.
//
ID              ACVRL1_E236X(1); standard; MUTATION; PK
Accession       K00757
Systematic name g.3045G>T, c.706G>T, r.706g>u, p.Glu236X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3045
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 988
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 236
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@A307X393(1); standard; MUTATION; PK
Accession       K00758
Systematic name g.3898_3899insA, c.920_921insA, r.920_921insa,
Systematic name p.Cys308fsX83
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3899
Feature           /change: +a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1203
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 307
Feature           /change: A -> 
Feature           /change: AMRPGAPARG DLRYTGQTSH CPPRLQEPQC AGQEQPAVLH
Feature           /change: RRPGPGCDAL TGQRLPGHRQ QPESGHQAVH GTRGAGRADP HGLLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_V336V(1); standard; MUTATION; PK
Accession       K00759
Systematic name g.3986T>C, c.1008T>C, r.1008u>c, p.Val336Val
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3986
Feature           /change: g -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1290
Feature           /codon: gtg -> gtc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 336
Feature           /change: V -> V
Feature           /domain: PK
Occurrence      Families: ; Patients: ; Homozygotes: 
//
ID              ACVRL1_C344R(1); standard; MUTATION; PK
Accession       K00760
Systematic name g.4008T>C, c.1030T>C, r.1030u>c, p.Cys344Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [11]
RefCrossRef     PUBMED; 16470787
RefAuthors      Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, 
RefAuthors      S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, 
RefAuthors      H., Mao, R.
RefTitle        Genotype-phenotype correlation in hereditary hemorrhagic 
RefTitle        telangiectasia: mutations and manifestations.
RefLoc          Am J Med Genet A 140:463-70
RefNumber       [20]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4008
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1312
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 344
Feature           /change: C -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              ACVRL1_G350C(1); standard; MUTATION; PK
Accession       K00761
Systematic name g.4026G>T, c.1048G>T, r.1048g>u, p.Gly350Cys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4026
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1330
Feature           /codon: ggc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 350
Feature           /change: G -> C
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Comment         -!-Splice site Mutation
//
ID              ACVRL1_G402D(1); standard; MUTATION; PK
Accession       K00762
Systematic name g.4718G>A, c.1205G>A, r.1205g>a, p.Gly402Asp
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4718
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1487
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 402
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
ID              ACVRL1_E379K(1); standard; MUTATION; PK
Accession       K00763
Systematic name g.4648G>A, c.1135G>A, r.1135g>a, p.Glu379Lys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [4]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [2]
RefCrossRef     PUBMED; 18498373
RefAuthors      Brakensiek, K., Frye-Boukhriss, H., Malzer, M., 
RefAuthors      Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, 
RefAuthors      C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, 
RefAuthors      K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., 
RefAuthors      Stuhrmann, M.
RefTitle        Detection of a significant association between mutations 
RefTitle        in the ACVRL1 gene and hepatic involvement in German 
RefTitle        patients with hereditary haemorrhagic telangiectasia.
RefLoc          Clin Genet 74:171-7
RefNumber       [12]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [5]
RefCrossRef     PUBMED; 15712270
RefAuthors      Kuehl, H. K., Caselitz, M., Hasenkamp, S., Wagner, S., El-
RefAuthors      Harith, e. l. -. H. A., Manns, M. P., Stuhrmann, M.
RefTitle        Hepatic manifestation is associated with ALK1 in 
RefTitle        hereditary hemorrhagic telangiectasia: identification of 
RefTitle        five novel ALK1 and one novel ENG mutations.
RefLoc          Hum Mutat 25:320
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4648
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1417
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 379
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              ACVRL1_R374Q(1); standard; MUTATION; PK
Accession       K00764
Systematic name g.4634G>A, c.1121G>A, r.1121g>a, p.Arg374Gln
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [5]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [5]
RefCrossRef     PUBMED; 14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
RefNumber       [6]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [11]
RefCrossRef     PUBMED;     15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [12]
RefCrossRef     PUBMED; 12700602
RefAuthors      Abdalla, S. A., Cymerman, U., Johnson, R. M., Deber, C. 
RefAuthors      M., Letarte, M.
RefTitle        Disease-associated mutations in conserved residues of ALK-
RefTitle        1 kinase domain.
RefLoc          Eur J Hum Genet 11:279-87
RefNumber       [17]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4634
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1403
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 374
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
//
ID              ACVRL1_Y421D(1); standard; MUTATION; PK
Accession       K00765
Systematic name g.7525T>G, c.1261T>G, r.1261u>g, p.Tyr421Asp
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7525
Feature           /change: t -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1543
Feature           /codon: tat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 421
Feature           /change: Y -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_P449T(1); standard; MUTATION; PK
Accession       K00766
Systematic name g.7609C>A, c.1345C>A, r.1345c>a, p.Pro449Thr
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7609
Feature           /change: c -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1627
Feature           /codon: ccc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 449
Feature           /change: P -> T
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R479X(1); standard; MUTATION; PK
Accession       K00767
Systematic name g.9342C>T, c.1435C>T, r.1435c>u, p.Arg479X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 7)
RefNumber       [8]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [2]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [15]
RefCrossRef     PUBMED;     15065824
RefAuthors      Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. 
RefAuthors      M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. 
RefAuthors      H.
RefTitle        Primary pulmonary hypertension in families with hereditary 
RefTitle        haemorrhagic telangiectasia.
RefLoc          Eur Respir J 23:373-7
RefNumber       [16]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [8]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
RefNumber       [11]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9342
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1717
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 479
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 4; Patients: 6; Homozygotes: 0
//
ID              ACVRL1_R484L(1); standard; MUTATION; PK
Accession       K00768
Systematic name g.9358C>T, c.1451C>T, r.1451c>u, p.Arg484Leu
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            30-May-2011 (Rel. 3, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9358
Feature           /change: g -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1733
Feature           /codon: cgg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 484
Feature           /change: R -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: ; Patients: ; Homozygotes: 
//
ID              ACVRL1_R484W(1); standard; MUTATION; PK
Accession       K00769
Systematic name g.9357C>T, c.1450C>T, r.1450c>u, p.Arg484Trp
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-May-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [9]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [3]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [3]
RefCrossRef     PUBMED;     11484689
RefAuthors      Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, 
RefAuthors      N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, 
RefAuthors      N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. 
RefAuthors      W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., 
RefAuthors      Wheeler, L.
RefTitle        Clinical and molecular genetic features of pulmonary 
RefTitle        hypertension in patients with hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          N Engl J Med 345:325-34
RefNumber       [16]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [9]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9357
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1732
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 484
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 4; Patients: 8; Homozygotes: 0
//
ID              ACVRL1_S233X(1); standard; MUTATION; PK
Accession       K00770
Systematic name g.3037C>A, c.698C>A, r.698c>a, p.Ser233X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            31-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18498373
RefAuthors      Brakensiek, K., Frye-Boukhriss, H., Malzer, M., 
RefAuthors      Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, 
RefAuthors      C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, 
RefAuthors      K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., 
RefAuthors      Stuhrmann, M.
RefTitle        Detection of a significant association between mutations 
RefTitle        in the ACVRL1 gene and hepatic involvement in German 
RefTitle        patients with hereditary haemorrhagic telangiectasia.
RefLoc          Clin Genet 74:171-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3037
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 980
Feature           /codon: tcg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 233
Feature           /change: S -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_E407D(1); standard; MUTATION; PK
Accession       K00771
Systematic name g.4734G>T, c.1221G>T, r.1221g>u, p.Glu407Asp
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18498373
RefAuthors      Brakensiek, K., Frye-Boukhriss, H., Malzer, M., 
RefAuthors      Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, 
RefAuthors      C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, 
RefAuthors      K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., 
RefAuthors      Stuhrmann, M.
RefTitle        Detection of a significant association between mutations 
RefTitle        in the ACVRL1 gene and hepatic involvement in German 
RefTitle        patients with hereditary haemorrhagic telangiectasia.
RefLoc          Clin Genet 74:171-7
RefNumber       [3]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4734
Feature           /change: g -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1503
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 407
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_V442A(1); standard; MUTATION; PK
Accession       K00772
Systematic name g.7589T>C, c.1325T>C, r.1325u>c, p.Val442Ala
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            31-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18498373
RefAuthors      Brakensiek, K., Frye-Boukhriss, H., Malzer, M., 
RefAuthors      Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, 
RefAuthors      C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, 
RefAuthors      K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., 
RefAuthors      Stuhrmann, M.
RefTitle        Detection of a significant association between mutations 
RefTitle        in the ACVRL1 gene and hepatic involvement in German 
RefTitle        patients with hereditary haemorrhagic telangiectasia.
RefLoc          Clin Genet 74:171-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7589
Feature           /change: t -> c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1607
Feature           /codon: gtg -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 442
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R484L(2); standard; MUTATION; PK
Accession       K00773
Systematic name g.9358G>T, c.1451G>T, r.1451g>u, p.Arg484Leu
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            31-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18498373
RefAuthors      Brakensiek, K., Frye-Boukhriss, H., Malzer, M., 
RefAuthors      Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, 
RefAuthors      C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, 
RefAuthors      K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., 
RefAuthors      Stuhrmann, M.
RefTitle        Detection of a significant association between mutations 
RefTitle        in the ACVRL1 gene and hepatic involvement in German 
RefTitle        patients with hereditary haemorrhagic telangiectasia.
RefLoc          Clin Genet 74:171-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9358
Feature           /change: g -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1733
Feature           /codon: cgg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 484
Feature           /change: R -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R411W(1); standard; MUTATION; PK
Accession       K00774
Systematic name g.4744C>T, c.1231C>T, r.1231c>u, p.Arg411Trp
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [2]
RefCrossRef     PUBMED;     18607909
RefAuthors      Sankelo, M., Halme, M., Laitinen, T., Mattila, P. S.
RefTitle        Hereditary hemorrhagic telangiectasia type 1 and 2 
RefTitle        mutations in Finland.
RefLoc          Acta Otolaryngol 128:1238-41
RefNumber       [8]
RefCrossRef     PUBMED; 19508727
RefAuthors      Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., 
RefAuthors      Riedel, F., Hoermann, K., Bugert, P.
RefTitle        Mutation analysis of 'Endoglin' and 'Activin receptor-like 
RefTitle        kinase' genes in German patients with hereditary 
RefTitle        hemorrhagic telangiectasia and the value of rapid 
RefTitle        genotyping using an allele-specific PCR-technique.
RefLoc          BMC Med Genet 10:53
RefNumber       [33]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
RefNumber       [34]
RefCrossRef     PUBMED; 11484689
RefAuthors      Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, 
RefAuthors      N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, 
RefAuthors      N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. 
RefAuthors      W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., 
RefAuthors      Wheeler, L.
RefTitle        Clinical and molecular genetic features of pulmonary 
RefTitle        hypertension in patients with hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          N Engl J Med 345:325-34
RefNumber       [14]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [8]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
RefNumber       [11]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4744
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1513
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 411
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 10; Patients: 16; Homozygotes: 0
//
ID              ACVRL1_#S232-1(1); standard; MUTATION; PK
Accession       K00775
Systematic name g.3035delC, c.696delC, r.696delc, p.Ser233fsX24
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED; 19508727
RefAuthors      Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., 
RefAuthors      Riedel, F., Hoermann, K., Bugert, P.
RefTitle        Mutation analysis of 'Endoglin' and 'Activin receptor-like 
RefTitle        kinase' genes in German patients with hereditary 
RefTitle        hemorrhagic telangiectasia and the value of rapid 
RefTitle        genotyping using an allele-specific PCR-technique.
RefLoc          BMC Med Genet 10:53
RefNumber       [4]
RefCrossRef     PUBMED;     10767348
RefAuthors      Abdalla, S. A., Pece-Barbara, N., Vera, S., Tapia, E., 
RefAuthors      Paez, E., Bernabeu, C., Letarte, M.
RefTitle        Analysis of ALK-1 and endoglin in newborns from families 
RefTitle        with hereditary hemorrhagic telangiectasia type 2.
RefLoc          Hum Mol Genet 9:1227-37
RefNumber       [5]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3035
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 978
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 232
Feature           /change: S -> SRGMNSPGSG RLRSITQYCS DTTTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_#A347-1(1); standard; MUTATION; PK
Accession       K00776
Systematic name g.4018delC, c.1040delC, r.1040delc, p.Asp348fsX5
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            31-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18607909
RefAuthors      Sankelo, M., Halme, M., Laitinen, T., Mattila, P. S.
RefTitle        Hereditary hemorrhagic telangiectasia type 1 and 2 
RefTitle        mutations in Finland.
RefLoc          Acta Otolaryngol 128:1238-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4018
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1322
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 347
Feature           /change: A -> ATWAWLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P449L(1); standard; MUTATION; PK
Accession       K00777
Systematic name g.7610C>T, c.1346C>T, r.1346c>u, p.Pro449Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            31-May-2011 (Rel. 3, Created)
Date            31-May-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 19508727
RefAuthors      Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., 
RefAuthors      Riedel, F., Hoermann, K., Bugert, P.
RefTitle        Mutation analysis of 'Endoglin' and 'Activin receptor-like 
RefTitle        kinase' genes in German patients with hereditary 
RefTitle        hemorrhagic telangiectasia and the value of rapid 
RefTitle        genotyping using an allele-specific PCR-technique.
RefLoc          BMC Med Genet 10:53
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7610
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1628
Feature           /codon: ccc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 449
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#L203X218(1); standard; MUTATION; PK
Accession       K00778
Systematic name g.138492delT, c.608delT, r.608delu, p.Leu203fsX5
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 19223935
RefAuthors      Wang, H., Li, W., Zhang, W., Sun, K., Song, X., Gao, S., 
RefAuthors      Zhang, C., Hui, R., Hu, H.
RefTitle        Novel promoter and exon mutations of the BMPR2 gene in 
RefTitle        Chinese patients with pulmonary arterial hypertension.
RefLoc          Eur J Hum Genet 17:1063-9
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 138492
Feature           /change: -t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 989
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 203
Feature           /change: L -> RNCWSX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_Q433X(1); standard; MUTATION; PK
Accession       K00779
Systematic name g.165857C>T, c.1297C>T, r.1297c>u, p.Gln433X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 18792970
RefAuthors      Rigelsky, C. M., Jennings, C., Lehtonen, R., Minai, O. A., 
RefAuthors      Eng, C., Aldred, M. A.
RefTitle        BMPR2 mutation in a patient with pulmonary arterial 
RefTitle        hypertension and suspected hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Am J Med Genet A 146A:2551-6
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 165857
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1678
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 433
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              BMPR2_R321X(1); standard; MUTATION; PK
Accession       K00780
Systematic name g.143721C>T, c.961C>T, r.961c>u, p.Arg321X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [3]
RefCrossRef     PUBMED;     18503968
RefAuthors      Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. 
RefAuthors      K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, 
RefAuthors      N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J.
RefTitle        Clinical implications of determining BMPR2 mutation status 
RefTitle        in a large cohort of children and adults with pulmonary 
RefTitle        arterial hypertension.
RefLoc          J Heart Lung Transplant 27:668-74
RefNumber       [6]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [4]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
RefNumber       [7]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143721
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1342
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 321
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 4; Patients: 6; Homozygotes: 0
//
ID              BMPR2_Y382X(1); standard; MUTATION; PK
Accession       K00781
Systematic name g.156128T>G, c.1146T>G, r.1146u>g, p.Tyr382X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED;     18503968
RefAuthors      Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. 
RefAuthors      K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, 
RefAuthors      N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J.
RefTitle        Clinical implications of determining BMPR2 mutation status 
RefTitle        in a large cohort of children and adults with pulmonary 
RefTitle        arterial hypertension.
RefLoc          J Heart Lung Transplant 27:668-74
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156128
Feature           /change: t -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1527
Feature           /codon: tat -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 382
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E224D(1); standard; MUTATION; PK
Accession       K00782
Systematic name g.142398G>T, c.672G>T, r.672g>u, p.Glu224Asp
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     16121312
RefAuthors      Elliott, C. G.
RefTitle        Genetics of pulmonary arterial hypertension: current and 
RefTitle        future implications.
RefLoc          Semin Respir Crit Care Med 26:365-71
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142398
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1053
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 224
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E369E(1); standard; MUTATION; PK
Accession       K00783
Systematic name g.154459A>G, c.1107A>G, r.1107a>g, p.Glu369Glu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     16121312
RefAuthors      Elliott, C. G.
RefTitle        Genetics of pulmonary arterial hypertension: current and 
RefTitle        future implications.
RefLoc          Semin Respir Crit Care Med 26:365-71
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154459
Feature           /change: a -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1488
Feature           /codon: gaa -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 369
Feature           /change: E -> E
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_M449R(1); standard; MUTATION; PK
Accession       K00784
Systematic name g.165906T>G, c.1346T>G, r.1346u>g, p.Met449Arg
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 16728714
RefAuthors      Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. 
RefAuthors      A., Robbins, I. M., Hedges, L. K., Stanton, K. C., 
RefAuthors      Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. 
RefAuthors      C.
RefTitle        High frequency of BMPR2 exonic deletions/duplications in 
RefTitle        familial pulmonary arterial hypertension.
RefLoc          Am J Respir Crit Care Med 174:590-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 165906
Feature           /change: t -> g
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1727
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 449
Feature           /change: M -> R
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#T268X278(1); standard; MUTATION; PK
Accession       K00785
Systematic name g.142530delT, c.804delT, r.804delu, p.Ala269fsX9
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16728714
RefAuthors      Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. 
RefAuthors      A., Robbins, I. M., Hedges, L. K., Stanton, K. C., 
RefAuthors      Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. 
RefAuthors      C.
RefTitle        High frequency of BMPR2 exonic deletions/duplications in 
RefTitle        familial pulmonary arterial hypertension.
RefLoc          Am J Respir Crit Care Med 174:590-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 142530
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1185
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 268
Feature           /change: T -> TQMDAWNICL X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_L291X(1); standard; MUTATION; PK
Accession       K00786
Systematic name g.143632delT, c.872delT, r.872delu, p.Leu291X
Description     A deletion mutation in the exon 7 leading to a premature
Description     stop codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16728714
RefAuthors      Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. 
RefAuthors      A., Robbins, I. M., Hedges, L. K., Stanton, K. C., 
RefAuthors      Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. 
RefAuthors      C.
RefTitle        High frequency of BMPR2 exonic deletions/duplications in 
RefTitle        familial pulmonary arterial hypertension.
RefLoc          Am J Respir Crit Care Med 174:590-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 143632
Feature           /change: -t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1253
Feature           /codon: tta -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 291
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#R266X277(1); standard; MUTATION; PK
Accession       K00787
Systematic name g.142522delA, c.796delA, r.796dela, p.Arg266fsX12
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16728714
RefAuthors      Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. 
RefAuthors      A., Robbins, I. M., Hedges, L. K., Stanton, K. C., 
RefAuthors      Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. 
RefAuthors      C.
RefTitle        High frequency of BMPR2 exonic deletions/duplications in 
RefTitle        familial pulmonary arterial hypertension.
RefLoc          Am J Respir Crit Care Med 174:590-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 142522
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1177
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 266
Feature           /change: R -> ESLQMDAWNI CLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_W466X(1); standard; MUTATION; PK
Accession       K00788
Systematic name g.165957G>A, c.1397G>A, r.1397g>a, p.Trp466X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [9]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [5]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
RefNumber       [7]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 165957
Feature           /change: g -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1778
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 466
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              BMPR2_A490V(1); standard; MUTATION; PK
Accession       K00789
Systematic name g.176297C>T, c.1469C>T, r.1469c>u, p.Ala490Val
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [10]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176297
Feature           /change: c -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1850
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 490
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_#R459X469(2); standard; MUTATION; PK
Accession       K00790
Systematic name g.165936delG, c.1376delG, r.1376delg, p.Arg459fsX14
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [14]
RefCrossRef     PUBMED; 15965979
RefAuthors      Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., 
RefAuthors      Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., 
RefAuthors      Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen-
RefAuthors      Sokolowski, A., Trembath, R. C., Laitinen, T.
RefTitle        BMPR2 mutations have short lifetime expectancy in primary 
RefTitle        pulmonary hypertension.
RefLoc          Hum Mutat 26:119-24
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 165936
Feature           /change: -g
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1757
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 459
Feature           /change: R -> NPSSQKPGKK IAWQX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              DDR2_R752C(1); standard; MUTATION; PK
Accession       K00791
Systematic name g.144877C>T, c.2254C>T, r.2254c>u, p.Arg752Cys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [15]
RefCrossRef     PUBMED;     20223752
RefAuthors      Ali, B. R., Xu, H., Akawi, N. A., John, A., Karuvantevida, 
RefAuthors      N. S., Langer, R., Al-Gazali, L., Leitinger, B.
RefTitle        Trafficking defects and loss of ligand binding are the 
RefTitle        underlying causes of all reported DDR2 missense mutations 
RefTitle        found in SMED-SL patients.
RefLoc          Hum Mol Genet 19:2239-50
RefNumber       [17]
RefCrossRef     PUBMED;     19110212
RefAuthors      Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, 
RefAuthors      M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., 
RefAuthors      Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A.
RefTitle        Mutations in DDR2 gene cause SMED with short limbs and 
RefTitle        abnormal calcifications.
RefLoc          Am J Hum Genet 84:80-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: DDR2_DNA: 144877
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X74764; GI:2497564; X74764: 2607
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: DDR2_HUMAN: 752
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Insensitivity to pain
Occurrence      Families: 6; Patients: 8; Homozygotes: 0
//
ID              DDR2_I726R(1); standard; MUTATION; PK
Accession       K00792
Systematic name g.144800T>G, c.2177T>G, r.2177u>g, p.Ile726Arg
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [17]
RefCrossRef     PUBMED; 19110212
RefAuthors      Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, 
RefAuthors      M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., 
RefAuthors      Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A.
RefTitle        Mutations in DDR2 gene cause SMED with short limbs and 
RefTitle        abnormal calcifications.
RefLoc          Am J Hum Genet 84:80-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: DDR2_DNA: 144800
Feature           /change: t -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X74764; GI:2497564; X74764: 2530
Feature           /codon: ata -> aga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: DDR2_HUMAN: 726
Feature           /change: I -> R
Feature           /domain: PK
Diagnosis       Insensitivity to pain
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              DDR2_T713I(1); standard; MUTATION; PK
Accession       K00793
Systematic name g.144761C>T, c.2138C>T, r.2138c>u, p.Thr713Ile
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 19110212
RefAuthors      Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, 
RefAuthors      M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., 
RefAuthors      Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A.
RefTitle        Mutations in DDR2 gene cause SMED with short limbs and 
RefTitle        abnormal calcifications.
RefLoc          Am J Hum Genet 84:80-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: DDR2_DNA: 144761
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X74764; GI:2497564; X74764: 2491
Feature           /codon: aca -> ata; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: DDR2_HUMAN: 713
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Insensitivity to pain
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PHKG2_#H48X52(1); standard; MUTATION; PK
Accession       K00794
Systematic name g.3753delC, c.144delC, r.144delc, p.His48fsX4
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the PK domain
Date            07-Jun-2011 (Rel. 3, Created)
Date            07-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 17689125
RefAuthors      Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, 
RefAuthors      H., Mention, K., Kenny, P., Kolho, K. L., Raiman, J., 
RefAuthors      Walter, J., Treacy, E., Tanner, S., Sharrard, M.
RefTitle        Glycogen storage disease type IX: High variability in 
RefTitle        clinical phenotype.
RefLoc          Mol Genet Metab 92:88-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: PHKG2_DNA: 3753
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: M31606; GI:125536; HSPHK: 237
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KPBH_HUMAN: 48
Feature           /change: H -> QSLRX
Feature           /domain: PK
Diagnosis       Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PAK3_W446S(1); standard; MUTATION; PK
Accession       K00795
Systematic name g.74467G>C, c.1337G>C, r.1337g>c, p.Trp446Ser
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17853471
RefAuthors      Peippo, M., Koivisto, A. M., Sarkamo, T., Sipponen, M., 
RefAuthors      von Koskull, H., Ylisaukko-oja, T., Rehnstrom, K., Froyen, 
RefAuthors      G., Ignatius, J., Jarvela, I.
RefTitle        PAK3 related mental disability: further characterization 
RefTitle        of the phenotype.
RefLoc          Am J Med Genet A 143A:2406-16
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: PAK3_DNA: 74467
Feature           /change: g -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF068864; GI:6174887; AF068864: 1337
Feature           /codon: tgg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PAK3_HUMAN: 446
Feature           /change: W -> S
Feature           /domain: PK
Diagnosis       X-linked nonsyndromic mental retardation (MRX)
Occurrence      Families: 1; Patients: 5; Homozygotes: 
//
ID              RHOK_S205X(1); standard; MUTATION; PK
Accession       K00796
Systematic name g.722C>A, c.614C>A, r.614c>a, p.Ser205X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     19753316
RefAuthors      Azam, M., Collin, R. W., Khan, M. I., Shah, S. T., 
RefAuthors      Qureshi, N., Ajmal, M., den Hollander, A. I., Qamar, R., 
RefAuthors      Cremers, F. P.
RefTitle        A novel mutation in GRK1 causes Oguchi disease in a 
RefTitle        consanguineous Pakistani family.
RefLoc          Mol Vis 15:1788-93
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RHOK_DNA: 722
Feature           /change: c -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 722
Feature           /codon: tcg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: RK_HUMAN: 205
Feature           /change: S -> X
Feature           /domain: PK
Diagnosis       Oguchi disease
Occurrence      Families: 1; Patients: 9; Homozygotes: 9
//
ID              RHOK_P391H(1); standard; MUTATION; PK
Accession       K00797
Systematic name g.1280C>A, c.1172C>A, r.1172c>a, p.Pro391His
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED;     17070587
RefAuthors      Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., 
RefAuthors      Kitahara, K.
RefTitle        A novel homozygous GRK1 mutation (P391H) in 2 siblings 
RefTitle        with Oguchi disease with markedly reduced cone responses.
RefLoc          Ophthalmology 114:134-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RHOK_DNA: 1280
Feature           /change: c -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 1280
Feature           /codon: ccc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RK_HUMAN: 391
Feature           /change: P -> H
Feature           /domain: PK
Diagnosis       Oguchi disease
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              RHOK_#R536X543(1); standard; MUTATION; 
Accession       K00798
Systematic name g.1715delC, c.1607delC, r.1607delc, p.Arg536fsX8
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 2, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED;     17070587
RefAuthors      Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., 
RefAuthors      Kitahara, K.
RefTitle        A novel homozygous GRK1 mutation (P391H) in 2 siblings 
RefTitle        with Oguchi disease with markedly reduced cone responses.
RefLoc          Ophthalmology 114:134-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: RHOK_DNA: 1715
Feature           /change: -c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U63973; GI:2833269; U63973: 1715
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: RK_HUMAN: 536
Feature           /change: S -> WTVRCRTTX
Diagnosis       Oguchi disease
Occurrence      Families: 4; Patients: 5; Homozygotes: 0
//
ID              RPS6KA3_#V435X449(1); standard; MUTATION; PK2
Accession       K00799
Systematic name g.95305delG, c.1303delG, r.1303delg, p.Val435fsX15
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95305
Feature           /change: -g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1303
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 435
Feature           /change: V -> FARDVYIKLQ TWSLQX
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_K451X(1); standard; MUTATION; PK2
Accession       K00800
Systematic name g.95353A>T, c.1351A>T, r.1351a>u, p.Lys451X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95353
Feature           /change: a -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1351
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 451
Feature           /change: K -> X
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_L468P(1); standard; MUTATION; PK2
Accession       K00801
Systematic name g.98659T>C, c.1403T>C, r.1403u>c, p.Leu468Pro
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98659
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1403
Feature           /codon: ctt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 468
Feature           /change: L -> P
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#I476-1(1); standard; MUTATION; PK2
Accession       K00802
Systematic name g.98684delT, c.1428delT, r.1428delu, p.Ile477fsX2
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98684
Feature           /change: -t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1428
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 476
Feature           /change: I -> ISLX
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#Y488X499(1); standard; MUTATION; PK2
Accession       K00803
Systematic name g.100373delA, c.1463delA, r.1463dela, p.Tyr488fsX3
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100373
Feature           /change: -a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1463
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 488
Feature           /change: Y -> LCMX
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_C560R(1); standard; MUTATION; PK2
Accession       K00804
Systematic name g.103116T>C, c.1678T>C, r.1678u>c, p.Cys560Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103116
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1678
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 560
Feature           /change: C -> R
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_C599Y(1); standard; MUTATION; PK2
Accession       K00805
Systematic name g.105092G>A, c.1796G>A, r.1796g>a, p.Cys599Tyr
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 105092
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1796
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 599
Feature           /change: C -> Y
Feature           /domain: PK2
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_L655P(1); standard; MUTATION; PK2
Accession       K00806
Systematic name g.111856T>C, c.1964T>C, r.1964u>c, p.Leu655Pro
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 111856
Feature           /change: t -> c
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1964
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 655
Feature           /change: L -> P
Feature           /domain: PK2
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_R667S(1); standard; MUTATION; PK2
Accession       K00807
Systematic name g.111893A>T, c.2001A>T, r.2001a>u, p.Arg667Ser
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK2 domain
Date            08-Jun-2011 (Rel. 3, Created)
Date            08-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 111893
Feature           /change: a -> t
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 2001
Feature           /codon: aga -> agt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 667
Feature           /change: R -> S
Feature           /domain: PK2
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TEK_Y897C(1); standard; MUTATION; PK
Accession       K00808
Systematic name g.55887A>G, c.2690A>G, r.2690a>g, p.Tyr897Cys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
RefNumber       [2]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
RefNumber       [4]
RefCrossRef     PUBMED; 19079259
RefAuthors      Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., 
RefAuthors      Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., 
RefAuthors      Vikkula, M.
RefTitle        Somatic mutations in angiopoietin receptor gene TEK cause 
RefTitle        solitary and multiple sporadic venous malformations.
RefLoc          Nat Genet 41:118-24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55887
Feature           /change: a -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838
Feature           /codon: tac -> tgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 897
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 3; Patients: 5; Homozygotes: 0
//
ID              TEK_R915H(1); standard; MUTATION; PK
Accession       K00809
Systematic name g.55941G>A, c.2744G>A, r.2744g>a, p.Arg915His
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55941
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2892
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 915
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              TEK_R918C(1); standard; MUTATION; PK
Accession       K00810
Systematic name g.55949C>T, c.2752C>T, r.2752c>u, p.Arg918Cys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55949
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2900
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 918
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              TEK_V919L(1); standard; MUTATION; PK
Accession       K00811
Systematic name g.55952G>T, c.2755G>T, r.2755g>u, p.Val919Leu
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55952
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2903
Feature           /codon: gtg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 919
Feature           /change: V -> L
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TEK_A925S(1); standard; MUTATION; PK
Accession       K00812
Systematic name g.55970G>T, c.2773G>T, r.2773g>u, p.Ala925Ser
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19888299
RefAuthors      Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, 
RefAuthors      L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, 
RefAuthors      J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., 
RefAuthors      Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., 
RefAuthors      Rieu, P., Vikkula, M.
RefTitle        Hereditary cutaneomucosal venous malformations are caused 
RefTitle        by TIE2 mutations with widely variable hyper-
RefTitle        phosphorylating effects.
RefLoc          Eur J Hum Genet 18:414-20
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55970
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2921
Feature           /codon: gca -> tca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 925
Feature           /change: A -> S
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MERTK_#C738X769(1); standard; MUTATION; PK
Accession       K00813
Systematic name g.123711delT, c.2214delT, r.2214delu, p.Cys738fsX31
Description     A frame shift deletion mutation in the exon 17 leading to a
Description     premature stop codon in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16714263
RefAuthors      Tschernutter, M., Jenkins, S. A., Waseem, N. H., Saihan, 
RefAuthors      Z., Holder, G. E., Bird, A. C., Bhattacharya, S. S., Ali, 
RefAuthors      R. R., Webster, A. R.
RefTitle        Clinical characterisation of a family with retinal 
RefTitle        dystrophy caused by mutation in the Mertk gene.
RefLoc          Br J Ophthalmol 90:718-23
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: MERTK_DNA: 123711
Feature           /change: -t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: U08023; GI:10720097; HS08023: 2351
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: MERK_HUMAN: 738
Feature           /change: C -> WLRTSASLRR FTVAIITAKA ALLRCLLNGS PX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 4; Homozygotes: 4
//
ID              BMPR2_E243K(1); standard; MUTATION; PK
Accession       K00814
Systematic name g.142453G>A, c.727G>A, r.727g>a, p.Glu243Lys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142453
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1108
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 243
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_V348I(1); standard; MUTATION; PK
Accession       K00815
Systematic name g.154394G>A, c.1042G>A, r.1042g>a, p.Val348Ile
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154394
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1423
Feature           /codon: gtt -> att; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 348
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_M356L(1); standard; MUTATION; PK
Accession       K00816
Systematic name g.154418A>T, c.1066A>T, r.1066a>u, p.Met356Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154418
Feature           /change: a -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1447
Feature           /codon: atg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 356
Feature           /change: M -> L
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E386V(1); standard; MUTATION; PK
Accession       K00817
Systematic name g.156139A>T, c.1157A>T, r.1157a>u, p.Glu386Val
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156139
Feature           /change: a -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1538
Feature           /codon: gaa -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 386
Feature           /change: E -> V
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_V392A(1); standard; MUTATION; PK
Accession       K00818
Systematic name g.156157T>C, c.1175T>C, r.1175u>c, p.Val392Ala
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156157
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1556
Feature           /codon: gtg -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 392
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E415X(1); standard; MUTATION; PK
Accession       K00819
Systematic name g.156225G>T, c.1243G>T, r.1243g>u, p.Glu415X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156225
Feature           /change: g -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1624
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 415
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_N202Y(1); standard; MUTATION; 
Accession       K00820
Systematic name g.138488A>T, c.604A>T, r.604a>u, p.Asn202Tyr
Description     A point mutation in the exon 5 leading to an amino acid
Description     change
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 138488
Feature           /change: a -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 985
Feature           /codon: aat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 202
Feature           /change: N -> Y
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#R259X261(1); standard; MUTATION; PK
Accession       K00822
Systematic name g.142501delC, c.775delC, r.775delc, p.Arg259fsX2
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 142501
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1156
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 259
Feature           /change: R -> ALX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_#K204X208(1); standard; MUTATION; PK
Accession       K00823
Systematic name g.138496delA, c.612delA, r.612dela, p.Lys204fsX4
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 138496
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 993
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 204
Feature           /change: K -> NCWSX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_L277P(1); standard; MUTATION; PK
Accession       K00824
Systematic name g.142556T>C, c.830T>C, r.830u>c, p.Leu277Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            09-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142556
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1211
Feature           /codon: ctt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 277
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_S301P(1); standard; MUTATION; PK
Accession       K00825
Systematic name g.143661T>C, c.901T>C, r.901u>c, p.Ser301Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [5]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143661
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1282
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 301
Feature           /change: S -> P
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              BMPR2_R310X(1); standard; MUTATION; PK
Accession       K00826
Systematic name g.143688A>T, c.928A>T, r.928a>u, p.Arg310X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            09-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143688
Feature           /change: a -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1309
Feature           /codon: aga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 310
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_L334X(1); standard; MUTATION; PK
Accession       K00827
Systematic name g.154353T>G, c.1001T>G, r.1001u>g, p.Leu334X
Description     A point mutation in the exon 8 leading to a premature stop
Description     codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154353
Feature           /change: t -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1382
Feature           /codon: tta -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 334
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_L340P(1); standard; MUTATION; PK
Accession       K00828
Systematic name g.154371T>C, c.1019T>C, r.1019u>c, p.Leu340Pro
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154371
Feature           /change: t -> c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1400
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 340
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_A391T(1); standard; MUTATION; PK
Accession       K00829
Systematic name g.156153G>A, c.1171G>A, r.1171g>a, p.Ala391Thr
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156153
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1552
Feature           /codon: gct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 391
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_#E464X473(1); standard; MUTATION; PK
Accession       K00830
Systematic name g.165952delA, c.1392delA, r.1392dela, p.Ala465fsX8
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 165952
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1773
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 464
Feature           /change: E -> EPGKKIAWQX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_#K467X473(1); standard; MUTATION; PK
Accession       K00831
Systematic name g.165959delA, c.1399delA, r.1399dela, p.Glu468fsX5
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 165959
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1780
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 467
Feature           /change: K -> KKIAWQX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR1A_Q353X(1); standard; MUTATION; PK
Accession       K00832
Systematic name g.163713C>T, c.1057C>T, r.1057c>u, p.Gln353X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16152648
RefAuthors      Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, 
RefAuthors      M., Flejou, J. F., Thomas, G., Olschwang, S.
RefTitle        Vessels' morphology in SMAD4 and BMPR1A-related juvenile 
RefTitle        polyposis.
RefLoc          Am J Med Genet A 138A:113-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163713
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1366
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 353
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#I449X497(1); standard; MUTATION; PK
Accession       K00833
Systematic name g.167733delC, c.1347delC, r.1347delc, p.Ile449fsX48
Description     A frame shift deletion mutation in the exon 12 leading to a
Description     premature stop codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16152648
RefAuthors      Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, 
RefAuthors      M., Flejou, J. F., Thomas, G., Olschwang, S.
RefTitle        Vessels' morphology in SMAD4 and BMPR1A-related juvenile 
RefTitle        polyposis.
RefLoc          Am J Med Genet A 138A:113-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 167733
Feature           /change: -c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1656
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 449
Feature           /change: I -> 
Feature           /change: MWKNTNCHIT TWYRVIRHTK ICVRLCVSNV CGQLCLIGGT
Feature           /change: VMNVYEQFX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_L497X(1); standard; MUTATION; PK
Accession       K00834
Systematic name g.167963delT, c.1490delT, r.1490delu, p.Leu497X
Description     A deletion mutation in the exon 13 leading to a premature
Description     stop codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 16152648
RefAuthors      Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, 
RefAuthors      M., Flejou, J. F., Thomas, G., Olschwang, S.
RefTitle        Vessels' morphology in SMAD4 and BMPR1A-related juvenile 
RefTitle        polyposis.
RefLoc          Am J Med Genet A 138A:113-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 167963
Feature           /change: -t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1799
Feature           /codon: ttg -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 497
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR1A_E411K(1); standard; MUTATION; PK
Accession       K00835
Systematic name g.165937G>A, c.1231G>A, r.1231g>a, p.Glu411Lys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 16436638
RefAuthors      Pyatt, R. E., Pilarski, R., Prior, T. W.
RefTitle        Mutation screening in juvenile polyposis syndrome.
RefLoc          J Mol Diagn 8:84-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 165937
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1540
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 411
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_Y425X(1); standard; MUTATION; PK
Accession       K00836
Systematic name g.165981C>A, c.1275C>A, r.1275c>a, p.Tyr425X
Description     A point mutation in the exon 11 leading to a premature stop
Description     codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 16436638
RefAuthors      Pyatt, R. E., Pilarski, R., Prior, T. W.
RefTitle        Mutation screening in juvenile polyposis syndrome.
RefLoc          J Mol Diagn 8:84-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 165981
Feature           /change: c -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1584
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 425
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#K518-1(1); standard; MUTATION; PK
Accession       K00837
Systematic name g.168025delA, c.1552delA, r.1552dela, p.Lys518fsX12
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 16436638
RefAuthors      Pyatt, R. E., Pilarski, R., Prior, T. W.
RefTitle        Mutation screening in juvenile polyposis syndrome.
RefLoc          J Mol Diagn 8:84-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 168025
Feature           /change: -a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1861
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 518
Feature           /change: K -> RRRLPRWLNP KMX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_S337X(1); standard; MUTATION; PK
Accession       K00838
Systematic name g.163666C>G, c.1010C>G, r.1010c>g, p.Ser337X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12136244
RefAuthors      Friedl, W., Uhlhaas, S., Schulmann, K., Stolte, M., Loff, 
RefAuthors      S., Back, W., Mangold, E., Stern, M., Knaebel, H. P., 
RefAuthors      Sutter, C., Weber, R. G., Pistorius, S., Burger, B., 
RefAuthors      Propping, P.
RefTitle        Juvenile polyposis: massive gastric polyposis is more 
RefTitle        common in MADH4 mutation carriers than in BMPR1A mutation 
RefTitle        carriers.
RefLoc          Hum Genet 111:108-11
RefNumber       [2]
RefCrossRef     PUBMED; 17873119
RefAuthors      Aretz, S., Stienen, D., Uhlhaas, S., Stolte, M., Entius, 
RefAuthors      M. M., Loff, S., Back, W., Kaufmann, A., Keller, K. M., 
RefAuthors      Blaas, S. H., Siebert, R., Vogt, S., Spranger, S., 
RefAuthors      Holinski-Feder, E., Sunde, L., Propping, P., Friedl, W.
RefTitle        High proportion of large genomic deletions and a genotype 
RefTitle        phenotype update in 80 unrelated families with juvenile 
RefTitle        polyposis syndrome.
RefLoc          J Med Genet 44:702-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163666
Feature           /change: c -> g
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1319
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 337
Feature           /change: S -> X
Feature           /domain: PK
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR1A_Y245X(1); standard; MUTATION; PK
Accession       K00839
Systematic name g.161546T>A, c.735T>A, r.735u>a, p.Tyr245X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18262054
RefAuthors      Howe, J. R., Chinnathambi, S., Calva, D., Bair, J., 
RefAuthors      Pechman, B., Salamon, A., Tam, B., Simon, L.
RefTitle        A family with two consecutive nonsense mutations in BMPR1A 
RefTitle        causing juvenile polyposis.
RefLoc          Cancer Genet Cytogenet 181:52-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161546
Feature           /change: t -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1044
Feature           /codon: tat -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 245
Feature           /change: Y -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              BMPR1A_G246X(1); standard; MUTATION; PK
Accession       K00840
Systematic name g.161547G>T, c.736G>T, r.736g>u, p.Gly246X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18262054
RefAuthors      Howe, J. R., Chinnathambi, S., Calva, D., Bair, J., 
RefAuthors      Pechman, B., Salamon, A., Tam, B., Simon, L.
RefTitle        A family with two consecutive nonsense mutations in BMPR1A 
RefTitle        causing juvenile polyposis.
RefLoc          Cancer Genet Cytogenet 181:52-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161547
Feature           /change: g -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1045
Feature           /codon: gga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 246
Feature           /change: G -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              BMPR1A_R254H(1); standard; MUTATION; PK
Accession       K00841
Systematic name g.161572G>A, c.761G>A, r.761g>a, p.Arg254His
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            10-Jun-2011 (Rel. 3, Created)
Date            10-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18823382
RefAuthors      Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, 
RefAuthors      J., Larsen-Haidle, J., Howe, J. R.
RefTitle        The rate of germline mutations and large deletions of 
RefTitle        SMAD4 and BMPR1A in juvenile polyposis.
RefLoc          Clin Genet 75:79-85
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161572
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1070
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 254
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_W239X(1); standard; MUTATION; PK
Accession       K00842
Systematic name g.3055G>A, c.716G>A, r.716g>a, p.Trp239X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            13-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16690726
RefAuthors      Prigoda, N. L., Savas, S., Abdalla, S. A., Piovesan, B., 
RefAuthors      Rushlow, D., Vandezande, K., Zhang, E., Ozcelik, H., 
RefAuthors      Gallie, B. L., Letarte, M.
RefTitle        Hereditary haemorrhagic telangiectasia: mutation 
RefTitle        detection, test sensitivity and novel mutations.
RefLoc          J Med Genet 43:722-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3055
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 998
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 239
Feature           /change: W -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A352D(1); standard; MUTATION; PK
Accession       K00843
Systematic name g.4568C>A, c.1055C>A, r.1055c>a, p.Ala352Asp
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 16690726
RefAuthors      Prigoda, N. L., Savas, S., Abdalla, S. A., Piovesan, B., 
RefAuthors      Rushlow, D., Vandezande, K., Zhang, E., Ozcelik, H., 
RefAuthors      Gallie, B. L., Letarte, M.
RefTitle        Hereditary haemorrhagic telangiectasia: mutation 
RefTitle        detection, test sensitivity and novel mutations.
RefLoc          J Med Genet 43:722-8
RefNumber       [3]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4568
Feature           /change: c -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1337
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 352
Feature           /change: A -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_Q237K(1); standard; MUTATION; PK
Accession       K00844
Systematic name g.3048C>A, c.709C>A, r.709c>a, p.Gln237Lys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            13-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3048
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 991
Feature           /codon: cag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 237
Feature           /change: Q -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_L289P(1); standard; MUTATION; PK
Accession       K00845
Systematic name g.3844T>C, c.866T>C, r.866u>c, p.Leu289Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            13-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3844
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1148
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 289
Feature           /change: L -> P
Feature           /domain: PK
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_#H253-1(1); standard; MUTATION; PK
Accession       K00846
Systematic name g.3098delC, c.759delC, r.759delc, p.His253fsX4
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [2]
RefCrossRef     PUBMED;     11484689
RefAuthors      Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, 
RefAuthors      N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, 
RefAuthors      N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. 
RefAuthors      W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., 
RefAuthors      Wheeler, L.
RefTitle        Clinical and molecular genetic features of pulmonary 
RefTitle        hypertension in patients with hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          N Engl J Med 345:325-34
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3098
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1041
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 253
Feature           /change: H -> QTTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
ID              ACVRL1_G309S(1); standard; MUTATION; PK
Accession       K00847
Systematic name g.3903G>A, c.925G>A, r.925g>a, p.Gly309Ser
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            13-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3903
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1207
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 309
Feature           /change: G -> S
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_C344Y(1); standard; MUTATION; PK
Accession       K00848
Systematic name g.4009G>A, c.1031G>A, r.1031g>a, p.Cys344Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [3]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [2]
RefCrossRef     PUBMED;     14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
RefNumber       [34]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
RefNumber       [6]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4009
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1313
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 344
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 6; Patients: 8; Homozygotes: 0
//
ID              ACVRL1_G350R(1); standard; MUTATION; PK
Accession       K00849
Systematic name g.4026G>C, c.1048G>C, r.1048g>c, p.Gly350Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            13-Jun-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4026
Feature           /change: g -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1330
Feature           /codon: ggc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 350
Feature           /change: G -> R
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_M376V(1); standard; MUTATION; PK
Accession       K00850
Systematic name g.4639A>G, c.1126A>G, r.1126a>g, p.Met376Val
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [11]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [6]
RefCrossRef     PUBMED; 16123970
RefAuthors      Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, 
RefAuthors      S., Neuhaus, P., Nayernia, K., Engel, W.
RefTitle        ALK-1 mutations in liver transplanted patients with 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Liver Transpl 11:1132-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4639
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1408
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 376
Feature           /change: M -> V
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 6; Homozygotes: 0
//
ID              ACVRL1_R411P(1); standard; MUTATION; PK
Accession       K00851
Systematic name g.4745G>C, c.1232G>C, r.1232g>c, p.Arg411Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [11]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [14]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
RefNumber       [7]
RefCrossRef     PUBMED; 16123970
RefAuthors      Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, 
RefAuthors      S., Neuhaus, P., Nayernia, K., Engel, W.
RefTitle        ALK-1 mutations in liver transplanted patients with 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Liver Transpl 11:1132-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4745
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1514
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 411
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 7; Homozygotes: 0
//
ID              ACVRL1_R479Q(1); standard; MUTATION; PK
Accession       K00852
Systematic name g.9343G>A, c.1436G>A, r.1436g>a, p.Arg479Gln
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 8)
RefNumber       [1]
RefCrossRef     PUBMED;     16470787
RefAuthors      Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, 
RefAuthors      S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, 
RefAuthors      H., Mao, R.
RefTitle        Genotype-phenotype correlation in hereditary hemorrhagic 
RefTitle        telangiectasia: mutations and manifestations.
RefLoc          Am J Med Genet A 140:463-70
RefNumber       [2]
RefCrossRef     PUBMED; 17384219
RefAuthors      Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., 
RefAuthors      Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P.
RefTitle        Clinical and analytical sensitivities in hereditary 
RefTitle        hemorrhagic telangiectasia testing and a report of de novo 
RefTitle        mutations.
RefLoc          J Mol Diagn 9:258-65
RefNumber       [3]
RefCrossRef     PUBMED; 18159113
RefAuthors      Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., 
RefAuthors      Furutani, M., Imamura, S., Uehara, R., Nakayama, T., 
RefAuthors      Takao, A., Nakazawa, M., Saji, T.
RefTitle        Implications of mutations of activin receptor-like kinase 
RefTitle        1 gene (ALK1) in addition to bone morphogenetic protein 
RefTitle        receptor II gene (BMPR2) in children with pulmonary 
RefTitle        arterial hypertension.
RefLoc          Circ J 72:127-33
RefNumber       [19]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [27]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
RefNumber       [29]
RefCrossRef     PUBMED; 18285823
RefAuthors      Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, 
RefAuthors      F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, 
RefAuthors      F., Calender, A., Danesino, C., Giraud, S., Plauchu, 
RefAuthors      H., , .
RefTitle        Hereditary hemorrhagic telangiectasia: evidence for 
RefTitle        regional founder effects of ACVRL1 mutations in French and 
RefTitle        Italian patients.
RefLoc          Eur J Hum Genet 16:742-9
RefNumber       [18]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
RefNumber       [8]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9343
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 479
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 6; Patients: 6; Homozygotes: 0
Comment         -!-Idiopathic pulmonary arterial hypertension(IPAH)
//
ID              ACVRL1_R484Q(1); standard; MUTATION; PK
Accession       K00853
Systematic name g.9358G>A, c.1451G>A, r.1451g>a, p.Arg484Gln
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED; 18159113
RefAuthors      Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., 
RefAuthors      Furutani, M., Imamura, S., Uehara, R., Nakayama, T., 
RefAuthors      Takao, A., Nakazawa, M., Saji, T.
RefTitle        Implications of mutations of activin receptor-like kinase 
RefTitle        1 gene (ALK1) in addition to bone morphogenetic protein 
RefTitle        receptor II gene (BMPR2) in children with pulmonary 
RefTitle        arterial hypertension.
RefLoc          Circ J 72:127-33
RefNumber       [17]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [14]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
RefNumber       [4]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9358
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1733
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 484
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 4; Homozygotes: 0
Comment         -!-Idiopathic pulmonary arterial hypertension(IPAH)
//
ID              ACVRL1_L381P(1); standard; MUTATION; PK
Accession       K00854
Systematic name g.4655T>C, c.1142T>C, r.1142u>c, p.Leu381Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 18159113
RefAuthors      Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., 
RefAuthors      Furutani, M., Imamura, S., Uehara, R., Nakayama, T., 
RefAuthors      Takao, A., Nakazawa, M., Saji, T.
RefTitle        Implications of mutations of activin receptor-like kinase 
RefTitle        1 gene (ALK1) in addition to bone morphogenetic protein 
RefTitle        receptor II gene (BMPR2) in children with pulmonary 
RefTitle        arterial hypertension.
RefLoc          Circ J 72:127-33
RefNumber       [17]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [14]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
RefNumber       [4]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4655
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1424
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 381
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Idiopathic pulmonary arterial hypertension(IPAH)
//
ID              ACVRL1_H312Q(1); standard; MUTATION; PK
Accession       K00855
Systematic name g.3914C>G, c.936C>G, r.936c>g, p.His312Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 18159113
RefAuthors      Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., 
RefAuthors      Furutani, M., Imamura, S., Uehara, R., Nakayama, T., 
RefAuthors      Takao, A., Nakazawa, M., Saji, T.
RefTitle        Implications of mutations of activin receptor-like kinase 
RefTitle        1 gene (ALK1) in addition to bone morphogenetic protein 
RefTitle        receptor II gene (BMPR2) in children with pulmonary 
RefTitle        arterial hypertension.
RefLoc          Circ J 72:127-33
RefNumber       [17]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [3]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3914
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1218
Feature           /codon: cac -> cag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 312
Feature           /change: H -> Q
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Idiopathic pulmonary arterial hypertension(IPAH)
//
ID              ACVRL1_T277K(1); standard; MUTATION; PK
Accession       K00856
Systematic name g.3808C>A, c.830C>A, r.830c>a, p.Thr277Lys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3808
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1112
Feature           /codon: acg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 277
Feature           /change: T -> K
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-In the article it is written that the mutation is 831C>A,
Comment         -!-but it seems that this is just printing mistake. So here it
Comment         -!-is corrected.
//
ID              ACVRL1_W217G(1); standard; MUTATION; PK
Accession       K00857
Systematic name g.2988T>G, c.649T>G, r.649u>g, p.Trp217Gly
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2988
Feature           /change: t -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 931
Feature           /codon: tgg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 217
Feature           /change: W -> G
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_V226E(1); standard; MUTATION; PK
Accession       K00858
Systematic name g.3016T>A, c.677T>A, r.677u>a, p.Val226Glu
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3016
Feature           /change: t -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 959
Feature           /codon: gtg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 226
Feature           /change: V -> E
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_H280R(1); standard; MUTATION; PK
Accession       K00859
Systematic name g.3817A>G, c.839A>G, r.839a>g, p.His280Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3817
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1121
Feature           /codon: cac -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 280
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L294R(1); standard; MUTATION; PK
Accession       K00860
Systematic name g.3859T>G, c.881T>G, r.881u>g, p.Leu294Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3859
Feature           /change: t -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1163
Feature           /codon: ctg -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 294
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_H328Q(1); standard; MUTATION; PK
Accession       K00861
Systematic name g.3962C>A, c.984C>A, r.984c>a, p.His328Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3962
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1266
Feature           /codon: cac -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 328
Feature           /change: H -> Q
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_N335H(1); standard; MUTATION; PK
Accession       K00862
Systematic name g.3981A>C, c.1003A>C, r.1003a>c, p.Asn335His
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3981
Feature           /change: a -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1285
Feature           /codon: aat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 335
Feature           /change: N -> H
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L342P(1); standard; MUTATION; PK
Accession       K00863
Systematic name g.4003T>C, c.1025T>C, r.1025u>c, p.Leu342Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4003
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1307
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 342
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A347D(1); standard; MUTATION; PK
Accession       K00864
Systematic name g.4018C>A, c.1040C>A, r.1040c>a, p.Ala347Asp
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4018
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1322
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 347
Feature           /change: A -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P378S(1); standard; MUTATION; PK
Accession       K00865
Systematic name g.4645C>T, c.1132C>T, r.1132c>u, p.Pro378Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4645
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1414
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 378
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A400T(1); standard; MUTATION; PK
Accession       K00866
Systematic name g.4711G>A, c.1198G>A, r.1198g>a, p.Ala400Thr
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4711
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1480
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 400
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P424R(1); standard; MUTATION; PK
Accession       K00867
Systematic name g.7535C>G, c.1271C>G, r.1271c>g, p.Pro424Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7535
Feature           /change: c -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1553
Feature           /codon: ccc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 424
Feature           /change: P -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P449S(1); standard; MUTATION; PK
Accession       K00868
Systematic name g.7609C>T, c.1345C>T, r.1345c>u, p.Pro449Ser
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7609
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1627
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 449
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R479P(1); standard; MUTATION; PK
Accession       K00869
Systematic name g.9343G>C, c.1436G>C, r.1436g>c, p.Arg479Pro
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
RefNumber       [2]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9343
Feature           /change: g -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718
Feature           /codon: cga -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 479
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Idiopathic pulmonary arterial hypertension(IPAH)
//
ID              ACVRL1_K486E(1); standard; MUTATION; PK
Accession       K00870
Systematic name g.9363A>G, c.1456A>G, r.1456a>g, p.Lys486Glu
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9363
Feature           /change: a -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1738
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 486
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_E215X(1); standard; MUTATION; PK
Accession       K00871
Systematic name g.2982G>T, c.643G>T, r.643g>u, p.Glu215X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2982
Feature           /change: g -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 925
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 215
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_W274X(1); standard; MUTATION; PK
Accession       K00872
Systematic name g.3800G>A, c.822G>A, r.822g>a, p.Trp274X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3800
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1104
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 274
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#G214X257(1); standard; MUTATION; PK
Accession       K00873
Systematic name g.2980delG, c.641delG, r.641delg, p.Gly214fsX43
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2980
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 923
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 214
Feature           /change: G -> 
Feature           /change: AKCGGACGTV RVWPSRSSPR GMNSPGSGRL RSITQYCSDT TTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#T248X390(1); standard; MUTATION; PK
Accession       K00874
Systematic name g.3081delA, c.742delA, r.742dela, p.Thr248fsX9
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3081
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1024
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 248
Feature           /change: T -> QYCSDTTTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Frame shift deletion
//
ID              ACVRL1_#R479X501(1); standard; MUTATION; PK
Accession       K00875
Systematic name g.9343delG, c.1436delG, r.1436delg, p.Arg479fsX22
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9343
Feature           /change: -g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 479
Feature           /change: R -> HSPRCGSRRH YKKLATVQRS LKX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Frame shift deletion
//
ID              ACVRL1_G258S(1); standard; MUTATION; PK
Accession       K00876
Systematic name g.3111G>A, c.772G>A, r.772g>a, p.Gly258Ser
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3111
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1054
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 258
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L349P(1); standard; MUTATION; PK
Accession       K00877
Systematic name g.4024T>C, c.1046T>C, r.1046u>c, p.Leu349Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4024
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1328
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 349
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_D427V(1); standard; MUTATION; PK
Accession       K00878
Systematic name g.7544A>T, c.1280A>T, r.1280a>u, p.Asp427Val
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [2]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [22]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
RefNumber       [23]
RefCrossRef     PUBMED; 18285823
RefAuthors      Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, 
RefAuthors      F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, 
RefAuthors      F., Calender, A., Danesino, C., Giraud, S., Plauchu, 
RefAuthors      H., , .
RefTitle        Hereditary hemorrhagic telangiectasia: evidence for 
RefTitle        regional founder effects of ACVRL1 mutations in French and 
RefTitle        Italian patients.
RefLoc          Eur J Hum Genet 16:742-9
RefNumber       [8]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7544
Feature           /change: a -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1562
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 427
Feature           /change: D -> V
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_#G463X464(1); standard; MUTATION; PK
Accession       K00879
Systematic name g.9295delG, c.1388delG, r.1388delg, p.Gly463fsX1
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9295
Feature           /change: -g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1670
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 463
Feature           /change: G -> AX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Frame shift deletion
//
ID              ACVRL1_Q490X(1); standard; MUTATION; PK
Accession       K00880
Systematic name g.9375C>T, c.1468C>T, r.1468c>u, p.Gln490X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [2]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [2]
RefCrossRef     PUBMED;     11484689
RefAuthors      Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, 
RefAuthors      N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, 
RefAuthors      N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. 
RefAuthors      W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., 
RefAuthors      Wheeler, L.
RefTitle        Clinical and molecular genetic features of pulmonary 
RefTitle        hypertension in patients with hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          N Engl J Med 345:325-34
RefNumber       [7]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9375
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1750
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 490
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_G211D(1); standard; MUTATION; PK
Accession       K00881
Systematic name g.2971G>A, c.632G>A, r.632g>a, p.Gly211Asp
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [20]
RefCrossRef     PUBMED; 14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2971
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 914
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 211
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_W399S(1); standard; MUTATION; PK
Accession       K00882
Systematic name g.4709G>C, c.1196G>C, r.1196g>c, p.Trp399Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [6]
RefCrossRef     PUBMED;     14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
RefNumber       [7]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4709
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1478
Feature           /codon: tgg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 399
Feature           /change: W -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_K487T(1); standard; MUTATION; PK
Accession       K00883
Systematic name g.9367A>C, c.1460A>C, r.1460a>c, p.Lys487Thr
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [10]
RefCrossRef     PUBMED;     14684682
RefAuthors      Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. 
RefAuthors      A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, 
RefAuthors      I. M., Olschewski, H., McLaughlin, V., Gruenig, E., 
RefAuthors      Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, 
RefAuthors      T., Morrell, N. W., Trembath, R. C.
RefTitle        Molecular and functional analysis identifies ALK-1 as the 
RefTitle        predominant cause of pulmonary hypertension related to 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 40:865-71
RefNumber       [11]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9367
Feature           /change: a -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1742
Feature           /codon: aag -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 487
Feature           /change: K -> T
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_S462X(1); standard; MUTATION; PK
Accession       K00884
Systematic name g.9292C>G, c.1385C>G, r.1385c>g, p.Ser462X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED;     15065824
RefAuthors      Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. 
RefAuthors      M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. 
RefAuthors      H.
RefTitle        Primary pulmonary hypertension in families with hereditary 
RefTitle        haemorrhagic telangiectasia.
RefLoc          Eur Respir J 23:373-7
RefNumber       [15]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9292
Feature           /change: c -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1667
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 462
Feature           /change: S -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L273P(1); standard; MUTATION; PK
Accession       K00885
Systematic name g.3796T>C, c.818T>C, r.818u>c, p.Leu273Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [17]
RefCrossRef     PUBMED;     19357124
RefAuthors      Smoot, L. B., Obler, D., McElhinney, D. B., Boardman, K., 
RefAuthors      Wu, B. L., Lip, V., Mullen, M. P.
RefTitle        Clinical features of pulmonary arterial hypertension in 
RefTitle        young people with an ALK1 mutation and hereditary 
RefTitle        haemorrhagic telangiectasia.
RefLoc          Arch Dis Child 94:506-11
RefNumber       [18]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
RefNumber       [5]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3796
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1100
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 273
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 5; Homozygotes: 0
//
ID              ACVRL1_E224K(1); standard; MUTATION; PK
Accession       K00886
Systematic name g.3009G>A, c.670G>A, r.670g>a, p.Glu224Lys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3009
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 952
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 224
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_Q237X(1); standard; MUTATION; PK
Accession       K00887
Systematic name g.3048C>T, c.709C>T, r.709c>u, p.Gln237X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3048
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 991
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 237
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-In this article(16705692),it is written that the mutation
Comment         -!-is c709T>C, but it does not make any sense. So the database
Comment         -!-is updated by using the corrected mutation which is c709C>T
//
ID              ACVRL1_H280D(1); standard; MUTATION; PK
Accession       K00888
Systematic name g.3816C>G, c.838C>G, r.838c>g, p.His280Asp
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3816
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1120
Feature           /codon: cac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 280
Feature           /change: H -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_Y286X(1); standard; MUTATION; PK
Accession       K00889
Systematic name g.3836C>G, c.858C>G, r.858c>g, p.Tyr286X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3836
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1140
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 286
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_Q292P(1); standard; MUTATION; PK
Accession       K00890
Systematic name g.3853A>C, c.875A>C, r.875a>c, p.Gln292Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
RefNumber       [29]
RefCrossRef     PUBMED;     15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3853
Feature           /change: a -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1157
Feature           /codon: cag -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 292
Feature           /change: Q -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_G309C(1); standard; MUTATION; PK
Accession       K00891
Systematic name g.3903G>T, c.925G>T, r.925g>u, p.Gly309Cys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3903
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1207
Feature           /codon: ggc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 309
Feature           /change: G -> C
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_G319D(1); standard; MUTATION; PK
Accession       K00892
Systematic name g.3934G>A, c.956G>A, r.956g>a, p.Gly319Asp
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3934
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1238
Feature           /codon: ggt -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 319
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#L337X353(1); standard; MUTATION; PK
Accession       K00893
Systematic name g.3988delT, c.1010delT, r.1010delu, p.Leu337fsX16
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3988
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1292
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 337
Feature           /change: L -> RSRATCSVAS PTWAWLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@G371X391(1); standard; MUTATION; PK
Accession       K00894
Systematic name g.4625dupG, c.1112dupG, r.1112dupg, p.Thr372fsX19
Description     A frame shift duplication mutation in the exon 7 leading to
Description     a premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [25]
RefCrossRef     PUBMED;     12700602
RefAuthors      Abdalla, S. A., Cymerman, U., Johnson, R. M., Deber, C. 
RefAuthors      M., Letarte, M.
RefTitle        Disease-associated mutations in conserved residues of ALK-
RefTitle        1 kinase domain.
RefLoc          Eur J Hum Genet 11:279-87
RefNumber       [26]
RefCrossRef     PUBMED;         15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [27]
RefCrossRef     PUBMED; 16705692
RefAuthors      Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., 
RefAuthors      Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, 
RefAuthors      S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Distribution of ENG and ACVRL1 (ALK1) mutations in French 
RefTitle        HHT patients.
RefLoc          Hum Mutat 27:598
RefNumber       [15]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4626
Feature           /change: +g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1395
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 371
Feature           /change: G -> GHQAVHGTRG AGRADPHGLL X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 19; Patients: 26; Homozygotes: 0
//
ID              ACVRL1_#E281X300(1); standard; MUTATION; PK
Accession       K00895
Systematic name g.3820delA, c.842delA, r.842dela, p.Glu281fsX19
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED;     15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3820
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1124
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 281
Feature           /change: E -> GTAPSTTFCR DRRWSPIWLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L302R(1); standard; MUTATION; PK
Accession       K00896
Systematic name g.3883T>G, c.905T>G, r.905u>g, p.Leu302Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED;     15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3883
Feature           /change: t -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1187
Feature           /codon: cta -> cga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 302
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_H314Y(1); standard; MUTATION; PK
Accession       K00897
Systematic name g.3918C>T, c.940C>T, r.940c>u, p.His314Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [29]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [30]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3918
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1222
Feature           /codon: cac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 314
Feature           /change: H -> Y
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_S333G(1); standard; MUTATION; PK
Accession       K00898
Systematic name g.3975A>G, c.997A>G, r.997a>g, p.Ser333Gly
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [31]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3975
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1279
Feature           /codon: agc -> ggc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 333
Feature           /change: S -> G
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_G350S(1); standard; MUTATION; PK
Accession       K00899
Systematic name g.4026G>A, c.1048G>A, r.1048g>a, p.Gly350Ser
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            14-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [31]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4026
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1330
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 350
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A482V(1); standard; MUTATION; PK
Accession       K00900
Systematic name g.9352C>T, c.1445C>T, r.1445c>u, p.Ala482Val
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            14-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [34]
RefCrossRef     PUBMED;     10323406
RefAuthors      D'Abronzo, F. H., Swearingen, B., Klibanski, A., 
RefAuthors      Alexander, J. M.
RefTitle        Mutational analysis of activin/transforming growth factor-
RefTitle        beta type I and type II receptor kinases in human 
RefTitle        pituitary tumors.
RefLoc          J Clin Endocrinol Metab 84:1716-21
RefNumber       [35]
RefCrossRef     PUBMED; 15880681
RefAuthors      Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. 
RefAuthors      P., Blin, N., Pfister, M.
RefTitle        High frequency of ENG and ALK1/ACVRL1 mutations in German 
RefTitle        HHT patients.
RefLoc          Hum Mutat 25:595
RefNumber       [15]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [15]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9352
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1727
Feature           /codon: gcg -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 482
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_E215K(1); standard; MUTATION; PK
Accession       K00901
Systematic name g.2982G>A, c.643G>A, r.643g>a, p.Glu215Lys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2982
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 925
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 215
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_H222X(1); standard; MUTATION; PK
Accession       K00902
Systematic name g.3003delC, c.664delC, r.664delc, p.His222fsX35
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3003
Feature           /change: -c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 946
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 222
Feature           /change: H -> TVRVWPSRSS PRGMNSPGSG RLRSITQYCS DTTTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_G223R(1); standard; MUTATION; PK
Accession       K00903
Systematic name g.3006G>C, c.667G>C, r.667g>c, p.Gly223Arg
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3006
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 949
Feature           /codon: ggt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 223
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#V228X257(1); standard; MUTATION; PK
Accession       K00904
Systematic name g.3021delG, c.682delG, r.682delg, p.Val228fsX29
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3021
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 964
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 228
Feature           /change: V -> SRSSPRGMNS PGSGRLRSIT QYCSDTTTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_K229R(1); standard; MUTATION; PK
Accession       K00905
Systematic name g.3025A>G, c.686A>G, r.686a>g, p.Lys229Arg
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3025
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 968
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 229
Feature           /change: K -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#D235X257(1); standard; MUTATION; PK
Accession       K00906
Systematic name g.3043delA, c.704delA, r.704dela, p.Asp235fsX22
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3043
Feature           /change: -a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 986
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 235
Feature           /change: D -> VNSPGSGRLR SITQYCSDTT TSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L285F(1); standard; MUTATION; PK
Accession       K00907
Systematic name g.3831C>T, c.853C>T, r.853c>u, p.Leu285Phe
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3831
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1135
Feature           /codon: ctc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 285
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A306P(1); standard; MUTATION; PK
Accession       K00908
Systematic name g.3894G>C, c.916G>C, r.916g>c, p.Ala306Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3894
Feature           /change: g -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1198
Feature           /codon: gcg -> ccg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 306
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#P324X353(1); standard; MUTATION; PK
Accession       K00909
Systematic name g.3950delA, c.972delA, r.972dela, p.Ala325fsX28
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3950
Feature           /change: -a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1254
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 324
Feature           /change: P -> PPLPTATSRA AMCWSRATCS VASPTWAWLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L337P(1); standard; MUTATION; PK
Accession       K00910
Systematic name g.3988T>C, c.1010T>C, r.1010u>c, p.Leu337Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3988
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1292
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 337
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A347P(1); standard; MUTATION; PK
Accession       K00911
Systematic name g.4017G>C, c.1039G>C, r.1039g>c, p.Ala347Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [6]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [13]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4017
Feature           /change: g -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1321
Feature           /codon: gcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 347
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_D397G(1); standard; MUTATION; PK
Accession       K00912
Systematic name g.4703A>G, c.1190A>G, r.1190a>g, p.Asp397Gly
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4703
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1472
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 397
Feature           /change: D -> G
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_F425L(1); standard; MUTATION; PK
Accession       K00913
Systematic name g.7539C>G, c.1275C>G, r.1275c>g, p.Phe425Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [12]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
RefNumber       [6]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7539
Feature           /change: c -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1557
Feature           /codon: ttc -> ttg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 425
Feature           /change: F -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@S477X493(1); standard; MUTATION; PK
Accession       K00914
Systematic name g.9335dupC, c.1428dupC, r.1428dupc, p.Ser477fsX16
Description     A frame shift duplication mutation in the exon 9 leading to
Description     a premature stop codon in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [12]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9336
Feature           /change: +c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1711
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 477
Feature           /change: S -> LCPTHRAADQ EDTTKNX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R479L(1); standard; MUTATION; PK
Accession       K00915
Systematic name g.9343G>T, c.1436G>T, r.1436g>u, p.Arg479Leu
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            15-Jun-2011 (Rel. 3, Created)
Date            15-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [13]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9343
Feature           /change: g -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718
Feature           /codon: cga -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 479
Feature           /change: R -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@R484X493(1); standard; MUTATION; PK
Accession       K00916
Systematic name g.9357C>T, c.1450C>T, r.1450c>u, p.Arg484Trp
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            16-Jun-2011 (Rel. 3, Created)
Date            16-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20056902
RefAuthors      Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, 
RefAuthors      A., Jaes, X., Tregouet, D., Reis, A., Drouin-Garraud, V., 
RefAuthors      Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, 
RefAuthors      G., Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        patients carrying an ACVRL1 (ALK1) mutation.
RefLoc          Am J Respir Crit Care Med 181:851-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9357
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1732
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 484
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@M376X392(1); standard; MUTATION; PK
Accession       K00917
Systematic name g.4639_4640insG, c.1126_1127insG, r.1126_1127insg,
Systematic name p.Met376fsX15
Description     A frame shift insertion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            16-Jun-2011 (Rel. 3, Created)
Date            16-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15024723
RefAuthors      Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, 
RefAuthors      G., Odent, S., Riviere, S., Leheup, B., Goizet, C., 
RefAuthors      Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., 
RefAuthors      Calender, A., Giraud, S., , .
RefTitle        Molecular screening of ALK1/ACVRL1 and ENG genes in 
RefTitle        hereditary hemorrhagic telangiectasia in France.
RefLoc          Hum Mutat 23:289-99
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4640
Feature           /change: +g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1409
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 376
Feature           /change: M -> SGTRGAGRAD PHGLLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@S225X236(1); standard; MUTATION; PK
Accession       K00918
Systematic name g.3012dupA, c.673dupA, r.673dupa, p.Ser225fsX11
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the PK domain
Date            20-Jun-2011 (Rel. 3, Created)
Date            20-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3013
Feature           /change: +a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 956
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 225
Feature           /change: S -> KCGRQDLLLE GX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#S269X299(1); standard; MUTATION; PK
Accession       K00919
Systematic name g.3785delG, c.807delG, r.807delg, p.Ser270fsX30
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            20-Jun-2011 (Rel. 3, Created)
Date            20-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3785
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1089
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 269
Feature           /change: S -> SARSCGSSRT TTSTAPSTTF CRDRRWSPIW LX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@F424X447(1); standard; MUTATION; PK
Accession       K00920
Systematic name g.156251dupC, c.1269dupC, r.1269dupc, p.Phe424fsX23
Description     A frame shift duplication mutation in the exon 9 leading to
Description     a premature stop codon in the PK domain
Date            20-Jun-2011 (Rel. 3, Created)
Date            20-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18356561
RefAuthors      Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., 
RefAuthors      Sitbon, O., Montani, D., Souza, R., Simonneau, G., 
RefAuthors      Soubrier, F., Humbert, M.
RefTitle        Clinical outcomes of pulmonary arterial hypertension in 
RefTitle        carriers of BMPR2 mutation.
RefLoc          Am J Respir Crit Care Med 177:1377-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 156252
Feature           /change: +c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1651
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 424
Feature           /change: F -> LPRGIRTRVP DGFSDRGWKP SHFX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-As the position of the nucleotide change differ from that
Comment         -!-is reported to the publication,Mutation is updated
Comment         -!-according to the amino acid change.
//
ID              BMPR2_@T268X297(1); standard; MUTATION; PK
Accession       K00921
Systematic name g.142528dupA, c.802dupA, r.802dupa, p.Thr268fsX29
Description     A frame shift duplication mutation in the exon 6 leading to
Description     a premature stop codon in the PK domain
Date            20-Jun-2011 (Rel. 3, Created)
Date            20-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 20002458
RefAuthors      Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, 
RefAuthors      X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T.
RefTitle        Identities and frequencies of BMPR2 mutations in Chinese 
RefTitle        patients with idiopathic pulmonary arterial hypertension.
RefLoc          Clin Genet 77:189-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 142529
Feature           /change: +a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1184
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 268
Feature           /change: T -> NCRWTHGIFA CDGVLSQWIF MQVFKSPHKX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Mutation is updated according to the amino acid change.
//
ID              BMPR2_@R381X398(1); standard; MUTATION; PK
Accession       K00922
Systematic name g.156123dupA, c.1141dupA, r.1141dupa, p.Arg381fsX17
Description     A frame shift duplication mutation in the exon 9 leading to
Description     a premature stop codon in the PK domain
Date            20-Jun-2011 (Rel. 3, Created)
Date            20-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19206171

RefAuthors      Hamid, R., Cogan, J. D., Hedges, L. K., Austin, E., 
RefAuthors      Phillips, J. A., Newman, J. H., Loyd, J. E.
RefTitle        Penetrance of pulmonary arterial hypertension is modulated 
RefTitle        by the expression of normal BMPR2 allele.
RefLoc          Hum Mutat 30:649-54
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 156124
Feature           /change: +a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1523
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 381
Feature           /change: R -> KIYGTRSARR SCELEGLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_L308P(1); standard; MUTATION; PK
Accession       K00923
Systematic name g.66229T>C, c.923T>C, r.923u>c, p.Leu308Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [1]
RefCrossRef     PUBMED;     15235604
RefAuthors      Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, 
RefAuthors      M., Harada, N., Morisaki, T., Allard, D., Varret, M., 
RefAuthors      Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., 
RefAuthors      Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, 
RefAuthors      T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., 
RefAuthors      Boileau, C., Matsumoto, N.
RefTitle        Heterozygous TGFBR2 mutations in Marfan syndrome.
RefLoc          Nat Genet 36:855-60
RefNumber       [2]
RefCrossRef     PUBMED;     20358619
RefAuthors      Kirmani, S., Tebben, P. J., Lteif, A. N., Gordon, D., 
RefAuthors      Clarke, B. L., Hefferan, T. E., Yaszemski, M. J., McGrann, 
RefAuthors      P. S., Lindor, N. M., Ellison, J. W.
RefTitle        Germline TGF-beta receptor mutations and skeletal 
RefTitle        fragility: a report on two patients with Loeys-Dietz 
RefTitle        syndrome.
RefLoc          Am J Med Genet A 152A:1016-9
RefNumber       [24]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66229
Feature           /change: t -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2495
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 308
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Loeys Dietz Syndrome                Marfan Syndrome
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TGFBR2_W521R(1); standard; MUTATION; PK
Accession       K00924
Systematic name g.85579T>C, c.1561T>C, r.1561u>c, p.Trp521Arg
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 2, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 20358619
RefAuthors      Kirmani, S., Tebben, P. J., Lteif, A. N., Gordon, D., 
RefAuthors      Clarke, B. L., Hefferan, T. E., Yaszemski, M. J., McGrann, 
RefAuthors      P. S., Lindor, N. M., Ellison, J. W.
RefTitle        Germline TGF-beta receptor mutations and skeletal 
RefTitle        fragility: a report on two patients with Loeys-Dietz 
RefTitle        syndrome.
RefLoc          Am J Med Genet A 152A:1016-9
RefNumber       [5]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85579
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3133
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 521
Feature           /change: W -> R
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Diagnosis       Marfan syndrome type 2
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TGFBR2_Q508Q(1); standard; MUTATION; PK
Accession       K00925
Systematic name g.82634G>A, c.1524G>A, r.1524g>a, p.Gln508Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED;     15235604
RefAuthors      Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, 
RefAuthors      M., Harada, N., Morisaki, T., Allard, D., Varret, M., 
RefAuthors      Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., 
RefAuthors      Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, 
RefAuthors      T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., 
RefAuthors      Boileau, C., Matsumoto, N.
RefTitle        Heterozygous TGFBR2 mutations in Marfan syndrome.
RefLoc          Nat Genet 36:855-60
RefNumber       [23]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82634
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3096
Feature           /codon: cag -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 508
Feature           /change: Q -> Q
Feature           /domain: PK
Diagnosis       Marfan syndrome
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              TGFBR2_S449F(1); standard; MUTATION; PK
Accession       K00926
Systematic name g.68319C>T, c.1346C>T, r.1346c>u, p.Ser449Phe
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [2]
RefCrossRef     PUBMED;     15235604
RefAuthors      Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, 
RefAuthors      M., Harada, N., Morisaki, T., Allard, D., Varret, M., 
RefAuthors      Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., 
RefAuthors      Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, 
RefAuthors      T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., 
RefAuthors      Boileau, C., Matsumoto, N.
RefTitle        Heterozygous TGFBR2 mutations in Marfan syndrome.
RefLoc          Nat Genet 36:855-60
RefNumber       [4]
RefCrossRef     PUBMED;     19159394
RefAuthors      Soylen, B., Singh, K. K., Abuzainin, A., Rommel, K., 
RefAuthors      Becker, H., Arslan-Kirchner, M., Schmidtke, J.
RefTitle        Prevalence of dural ectasia in 63 gene-mutation-positive 
RefTitle        patients with features of Marfan syndrome type 1 and Loeys-
RefTitle        Dietz syndrome and report of 22 novel FBN1 mutations.
RefLoc          Clin Genet 75:265-70
RefNumber       [5]
RefCrossRef     PUBMED;   16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
RefNumber       [4]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68319
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2918
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 449
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Marfan syndrome
Diagnosis       Hereditary nonpolyposis colorectal cancer
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              TGFBR2_R537C(1); standard; MUTATION; PK
Accession       K00927
Systematic name g.85627C>T, c.1609C>T, r.1609c>u, p.Arg537Cys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [2]
RefCrossRef     PUBMED;     15235604
RefAuthors      Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, 
RefAuthors      M., Harada, N., Morisaki, T., Allard, D., Varret, M., 
RefAuthors      Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., 
RefAuthors      Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, 
RefAuthors      T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., 
RefAuthors      Boileau, C., Matsumoto, N.
RefTitle        Heterozygous TGFBR2 mutations in Marfan syndrome.
RefLoc          Nat Genet 36:855-60
RefNumber       [2]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85627
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3181
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 537
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Marfan syndrome
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 4; Patients: 8; Homozygotes: 0
Comment         -!-Probable Marfan Syndrome
Comment         -!-Thoracic Aortic Aneurysm or Dissection(TAAD)
//
ID              TGFBR2_T530I(1); standard; MUTATION; PK
Accession       K00928
Systematic name g.85607C>T, c.1589C>T, r.1589c>u, p.Thr530Ile
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19533785
RefAuthors      Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. 
RefAuthors      S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., 
RefAuthors      Yang, W., Lau, Y. L.
RefTitle        Identification of novel FBN1 and TGFBR2 mutations in 65 
RefTitle        probands with Marfan syndrome or Marfan-like phenotypes.
RefLoc          Am J Med Genet A 149A:1452-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85607
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3161
Feature           /codon: aca -> ata; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 530
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_#P501X517(1); standard; MUTATION; PK
Accession       K00929
Systematic name g.82612delC, c.1502delC, r.1502delc, p.Ser502fsX15
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19533785
RefAuthors      Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. 
RefAuthors      S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., 
RefAuthors      Yang, W., Lau, Y. L.
RefTitle        Identification of novel FBN1 and TGFBR2 mutations in 65 
RefTitle        probands with Marfan syndrome or Marfan-like phenotypes.
RefLoc          Am J Med Genet A 149A:1452-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82612
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3074
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 501
Feature           /change: P -> PASGSTTRAS RWCVRRX
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
Comment         -!-Original mutation in protein level is p.Ser502fsX15
//
ID              TGFBR2_G357R(1); standard; MUTATION; PK
Accession       K00930
Systematic name g.66375G>A, c.1069G>A, r.1069g>a, p.Gly357Arg
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19533785
RefAuthors      Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. 
RefAuthors      S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., 
RefAuthors      Yang, W., Lau, Y. L.
RefTitle        Identification of novel FBN1 and TGFBR2 mutations in 65 
RefTitle        probands with Marfan syndrome or Marfan-like phenotypes.
RefLoc          Am J Med Genet A 149A:1452-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66375
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2641
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 357
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_T325P(1); standard; MUTATION; PK
Accession       K00931
Systematic name g.66279A>C, c.973A>C, r.973a>c, p.Thr325Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19533785
RefAuthors      Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. 
RefAuthors      S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., 
RefAuthors      Yang, W., Lau, Y. L.
RefTitle        Identification of novel FBN1 and TGFBR2 mutations in 65 
RefTitle        probands with Marfan syndrome or Marfan-like phenotypes.
RefLoc          Am J Med Genet A 149A:1452-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66279
Feature           /change: a -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2545
Feature           /codon: acc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 325
Feature           /change: T -> P
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_D247V(1); standard; MUTATION; PK
Accession       K00932
Systematic name g.66046A>T, c.740A>T, r.740a>u, p.Asp247Val
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19533785
RefAuthors      Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. 
RefAuthors      S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., 
RefAuthors      Yang, W., Lau, Y. L.
RefTitle        Identification of novel FBN1 and TGFBR2 mutations in 65 
RefTitle        probands with Marfan syndrome or Marfan-like phenotypes.
RefLoc          Am J Med Genet A 149A:1452-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66046
Feature           /change: a -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2312
Feature           /codon: gac -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 247
Feature           /change: D -> V
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_E485K(1); standard; MUTATION; PK
Accession       K00933
Systematic name g.82563G>A, c.1453G>A, r.1453g>a, p.Glu485Lys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            21-Jun-2011 (Rel. 3, Created)
Date            21-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     19336958
RefAuthors      Yamawaki, T., Nagaoka, K., Morishige, K., Sadamatsu, K., 
RefAuthors      Tashiro, H., Yasunaga, H., Morisaki, H., Morisaki, T.
RefTitle        Familial thoracic aortic aneurysm and dissection 
RefTitle        associated with Marfan-related gene mutations: case report 
RefTitle        of a family with two gene mutations.
RefLoc          Intern Med 48:555-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82563
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3025
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 485
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-Inherited Thoracic aortic aneurysm and dissection(TAAD)
Comment         -!-which leads to Marfan's syndrome(MFS)
//
ID              TGFBR2_R495X(1); standard; MUTATION; PK
Accession       K00934
Systematic name g.82593C>T, c.1483C>T, r.1483c>u, p.Arg495X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     18084123
RefAuthors      Togashi, Y., Sakoda, H., Nishimura, A., Matsumoto, N., 
RefAuthors      Hiraoka, H., Matsuzawa, Y.
RefTitle        A Japanese family of typical Loeys-Dietz syndrome with a 
RefTitle        TGFBR2 mutation.
RefLoc          Intern Med 46:1995-2000
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82593
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3055
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 495
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 2; Homozygotes: 
//
ID              TGFBR2_V258G(1); standard; MUTATION; PK
Accession       K00935
Systematic name g.66079T>G, c.773T>G, r.773u>g, p.Val258Gly
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66079
Feature           /change: t -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2345
Feature           /codon: gtc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 258
Feature           /change: V -> G
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Marfan syndrome related disorder also.
//
ID              TGFBR2_G369V(1); standard; MUTATION; PK
Accession       K00936
Systematic name g.66412G>T, c.1106G>T, r.1106g>u, p.Gly369Val
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66412
Feature           /change: g -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2678
Feature           /codon: ggg -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 369
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Marfan syndrome type 2. Patient has mutation also in
Comment         -!-p.V387L. Two changes in one allele. One allele contains
Comment         -!-both c.1106G>T (p.G369V) and c.1159G>C ( p.V387L)
//
ID              TGFBR2_V387L(1); standard; MUTATION; PK
Accession       K00937
Systematic name g.66465G>C, c.1159G>C, r.1159g>c, p.Val387Leu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66465
Feature           /change: g -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2731
Feature           /codon: gtg -> ctg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 387
Feature           /change: V -> L
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Marfan syndrome type 2. Patient has mutation also in
Comment         -!-p.G369V. Two changes in one allele. One allele contains
Comment         -!-both c.1106G>T (p.G369V) and c.1159G>C ( p.V387L)
//
ID              TGFBR2_V387M(1); standard; MUTATION; PK
Accession       K00938
Systematic name g.66465G>A, c.1159G>A, r.1159g>a, p.Val387Met
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [4]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
RefNumber       [2]
RefCrossRef     PUBMED; 21524434
RefAuthors      Girdauskas, E., Schulz, S., Borger, M. A., Mierzwa, M., 
RefAuthors      Kuntze, T.
RefTitle        Transforming growth factor-beta receptor type II mutation 
RefTitle        in a patient with bicuspid aortic valve disease and 
RefTitle        intraoperative aortic dissection.
RefLoc          Ann Thorac Surg 91:e70-1
RefNumber       [3]
RefCrossRef     PUBMED; 11212236
RefAuthors      Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. 
RefAuthors      M., Hughes-Davies, L., Kemp, P. R., Hesketh, R.
RefTitle        Inhibiting mutations in the transforming growth factor 
RefTitle        beta type 2 receptor in recurrent human breast cancer.
RefLoc          Cancer Res 61:482-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66465
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2731
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 387
Feature           /change: V -> M
Feature           /domain: PK
Diagnosis       Marfan syndrome
Diagnosis       
Diagnosis       Human breast cancer
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
Comment         -!-Thoracic aortic aneurysms and dissections
Comment         -!-Bicuspid Aortic Valve Disease
//
ID              TGFBR2_C394Y(1); standard; MUTATION; PK
Accession       K00939
Systematic name g.66487G>A, c.1181G>A, r.1181g>a, p.Cys394Tyr
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66487
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2753
Feature           /codon: tgc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 394
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Thoracic aortic aneurysms and dissections
//
ID              TGFBR2_R356P(1); standard; MUTATION; PK
Accession       K00941
Systematic name g.66373G>C, c.1067G>C, r.1067g>c, p.Arg356Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16283890
RefAuthors      Ki, C. S., Jin, D. K., Chang, S. H., Kim, J. E., Kim, J. 
RefAuthors      W., Park, B. K., Choi, J. H., Park, I. S., Yoo, H. W.
RefTitle        Identification of a novel TGFBR2 gene mutation in a Korean 
RefTitle        patient with Loeys-Dietz aortic aneurysm syndrome; no 
RefTitle        mutation in TGFBR2 gene in 30 patients with classic 
RefTitle        Marfan's syndrome.
RefLoc          Clin Genet 68:561-3
RefNumber       [7]
RefCrossRef     PUBMED; 16835936
RefAuthors      Sakai, H., Visser, R., Ikegawa, S., Ito, E., Numabe, H., 
RefAuthors      Watanabe, Y., Mikami, H., Kondoh, T., Kitoh, H., Sugiyama, 
RefAuthors      R., Okamoto, N., Ogata, T., Fodde, R., Mizuno, S., 
RefAuthors      Takamura, K., Egashira, M., Sasaki, N., Watanabe, S., 
RefAuthors      Nishimaki, S., Takada, F., Nagai, T., Okada, Y., Aoka, Y., 
RefAuthors      Yasuda, K., Iwasa, M., Kogaki, S., Harada, N., Mizuguchi, 
RefAuthors      T., Matsumoto, N.
RefTitle        Comprehensive genetic analysis of relevant four genes in 
RefTitle        49 patients with Marfan syndrome or Marfan-related 
RefTitle        phenotypes.
RefLoc          Am J Med Genet A 140:1719-25
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66373
Feature           /change: g -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2639
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 356
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Diagnosis       Marfan syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TGFBR2_D446N(1); standard; MUTATION; PK
Accession       K00942
Systematic name g.68309G>A, c.1336G>A, r.1336g>a, p.Asp446Asn
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [6]
RefCrossRef     PUBMED; 16835936
RefAuthors      Sakai, H., Visser, R., Ikegawa, S., Ito, E., Numabe, H., 
RefAuthors      Watanabe, Y., Mikami, H., Kondoh, T., Kitoh, H., Sugiyama, 
RefAuthors      R., Okamoto, N., Ogata, T., Fodde, R., Mizuno, S., 
RefAuthors      Takamura, K., Egashira, M., Sasaki, N., Watanabe, S., 
RefAuthors      Nishimaki, S., Takada, F., Nagai, T., Okada, Y., Aoka, Y., 
RefAuthors      Yasuda, K., Iwasa, M., Kogaki, S., Harada, N., Mizuguchi, 
RefAuthors      T., Matsumoto, N.
RefTitle        Comprehensive genetic analysis of relevant four genes in 
RefTitle        49 patients with Marfan syndrome or Marfan-related 
RefTitle        phenotypes.
RefLoc          Am J Med Genet A 140:1719-25
RefNumber       [7]
RefCrossRef     PUBMED;     19006214
RefAuthors      Watanabe, Y., Sakai, H., Nishimura, A., Miyake, N., 
RefAuthors      Saitsu, H., Mizuguchi, T., Matsumoto, N.
RefTitle        Paternal somatic mosaicism of a TGFBR2 mutation 
RefTitle        transmitting to an affected son with Loeys-Dietz syndrome.
RefLoc          Am J Med Genet A 146A:3070-4
RefNumber       [3]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68309
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2908
Feature           /codon: gat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 446
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Marfan syndrome
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              TGFBR2_C394W(1); standard; MUTATION; PK
Accession       K00943
Systematic name g.66488C>G, c.1182C>G, r.1182c>g, p.Cys394Trp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66488
Feature           /change: c -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2754
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 394
Feature           /change: C -> W
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_D446H(1); standard; MUTATION; PK
Accession       K00944
Systematic name g.68309G>C, c.1336G>C, r.1336g>c, p.Asp446His
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68309
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2908
Feature           /codon: gat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 446
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_H377P(1); standard; MUTATION; PK
Accession       K00945
Systematic name g.66436A>C, c.1130A>C, r.1130a>c, p.His377Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66436
Feature           /change: a -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2702
Feature           /codon: cac -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 377
Feature           /change: H -> P
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 
Comment         -!-Neonatal Marfan Syndrome.
//
ID              TGFBR2_Q511X(1); standard; MUTATION; PK
Accession       K00946
Systematic name g.85549C>T, c.1531C>T, r.1531c>u, p.Gln511X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85549
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3103
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 511
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Probable Marfan Syndrome
//
ID              TGFBR2_P525R(1); standard; MUTATION; PK
Accession       K00947
Systematic name g.85592C>G, c.1574C>G, r.1574c>g, p.Pro525Arg
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85592
Feature           /change: c -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3146
Feature           /codon: cca -> cga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 525
Feature           /change: P -> R
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Probable Marfan Syndrome
//
ID              TGFBR2_R254H(1); standard; MUTATION; PK
Accession       K00948
Systematic name g.66067G>A, c.761G>A, r.761g>a, p.Arg254His
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66067
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2333
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 254
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Incomplete Marfan Syndrome
//
ID              TGFBR2_A426T(1); standard; MUTATION; PK
Accession       K00949
Systematic name g.68249G>A, c.1276G>A, r.1276g>a, p.Ala426Thr
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            22-Jun-2011 (Rel. 3, Created)
Date            22-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68249
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2848
Feature           /codon: gct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 426
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Incomplete Marfan Syndrome
//
ID              FGFR2_E565A(1); standard; MUTATION; PK
Accession       K00950
Systematic name g.102703A>C, c.1694A>C, r.1694a>c, p.Glu565Ala
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            23-Jun-2011 (Rel. 3, Created)
Date            23-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18541976
RefAuthors      Freeman, L., Elakis, G., Watson, G., Mullan, G. L., 
RefAuthors      Taylor, P. J., Anderson, P., Ogle, R., Buckley, M. F., 
RefAuthors      Roscioli, T.
RefTitle        Pfeiffer syndrome with neonatal death secondary to 
RefTitle        tracheal obstruction owing to the FGFR2 Glu565Ala 
RefTitle        mutation.
RefLoc          Clin Dysmorphol 17:223-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 102703
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1873
Feature           /codon: gag -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 565
Feature           /change: E -> A
Feature           /domain: PK
Diagnosis       Pfeiffer syndrome (PS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_A520T(1); standard; MUTATION; PK
Accession       K00951
Systematic name g.52208G>A, c.1558G>A, r.1558g>a, p.Ala520Thr
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15605412
RefAuthors      Albuisson, J., Pecheux, C., Carel, J. C., Lacombe, D., 
RefAuthors      Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., 
RefAuthors      Matthijs, G., Wasniewska, M., Delpech, M., Young, J., 
RefAuthors      Hardelin, J. P., Dode, C.
RefTitle        Kallmann syndrome: 14 novel mutations in KAL1 and 
RefTitle        FGFR1 (KAL2).
RefLoc          Hum Mutat 25:98-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 52208
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2284
Feature           /codon: gca -> aca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 520
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The nucleotide change differs(c.1558G>A) from which is
Comment         -!-mentioned in the article(c.1561G>A).
//
ID              FGFR1_Y730X(1); standard; MUTATION; PK
Accession       K00952
Systematic name g.55599C>G, c.2190C>G, r.2190c>g, p.Tyr730X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15605412
RefAuthors      Albuisson, J., Pecheux, C., Carel, J. C., Lacombe, D., 
RefAuthors      Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., 
RefAuthors      Matthijs, G., Wasniewska, M., Delpech, M., Young, J., 
RefAuthors      Hardelin, J. P., Dode, C.
RefTitle        Kallmann syndrome: 14 novel mutations in KAL1 and 
RefTitle        FGFR1 (KAL2).
RefLoc          Hum Mutat 25:98-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR1_DNA: 55599
Feature           /change: c -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2916
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 730
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR1_@Y613X655(1); standard; MUTATION; PK
Accession       K00953
Systematic name g.53732dupT, c.1837dupT, r.1837dupu, p.Tyr613fsX42
Description     A frame shift duplication mutation in the exon 13 leading
Description     to a premature stop codon in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15605412
RefAuthors      Albuisson, J., Pecheux, C., Carel, J. C., Lacombe, D., 
RefAuthors      Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., 
RefAuthors      Matthijs, G., Wasniewska, M., Delpech, M., Young, J., 
RefAuthors      Hardelin, J. P., Dode, C.
RefTitle        Kallmann syndrome: 14 novel mutations in KAL1 and 
RefTitle        FGFR1 (KAL2).
RefLoc          Hum Mutat 25:98-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: FGFR1_DNA: 53733
Feature           /change: +t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X66945; GI:120046; X66945: 2564
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: FGR1_HUMAN: 613
Feature           /change: Y -> 
Feature           /change: LSGLQEVHTP RPGSQECPGD RGQCDEDSRL WPRTGHSPHR LLX
Feature           /domain: PK
Diagnosis       Autosomal dominant Kallmann syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              IRAK4_R391H(1); standard; MUTATION; PK
Accession       K00955
Systematic name g.26645G>A, c.1172G>A, r.1172g>a, p.Arg391His
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17878374
RefAuthors      Hoarau, C., Gerard, B., Lescanne, E., Henry, D., Francois, 
RefAuthors      S., Lacapere, J. J., El Benna, J., Dang, P. M., 
RefAuthors      Grandchamp, B., Lebranchu, Y., Gougerot-Pocidalo, M. A., 
RefAuthors      Elbim, C.
RefTitle        TLR9 activation induces normal neutrophil responses in a 
RefTitle        child with IRAK-4 deficiency: involvement of the direct 
RefTitle        PI3K pathway.
RefLoc          J Immunol 179:4754-65
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AY186092: 26645
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF155118; GI:5360130; AF155118: 1221
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q8TDF7: 391
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       IRAK4 deficiency
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Nucleotide change differs(c.1172G>A) from that referenced
Comment         -!-sequence(c.1170G>A).
//
ID              FGFR2_K526E(1); standard; MUTATION; PK
Accession       K00956
Systematic name g.100813A>G, c.1576A>G, r.1576a>g, p.Lys526Glu
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 15523492
RefAuthors      de Ravel, T. J., Taylor, I. B., Van Oostveldt, A. J., 
RefAuthors      Fryns, J. P., Wilkie, A. O.
RefTitle        A further mutation of the FGFR2 tyrosine kinase domain in 
RefTitle        mild Crouzon syndrome.
RefLoc          Eur J Hum Genet 13:503-5
RefNumber       [9]
RefCrossRef     PUBMED; 16061565
RefAuthors      McGillivray, G., Savarirayan, R., Cox, T. C., Stojkoski, 
RefAuthors      C., McNeil, R., Bankier, A., Bateman, J. F., Roscioli, T., 
RefAuthors      Gardner, R. J., Lamande, S. R.
RefTitle        Familial scaphocephaly syndrome caused by a novel mutation 
RefTitle        in the FGFR2 tyrosine kinase domain.
RefLoc          J Med Genet 42:656-62
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 100813
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1755
Feature           /codon: aaa -> gaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 526
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Crouzon syndrome (CS)
Diagnosis       Crouzon syndrome (CS)
Occurrence      Families: 2; Patients: 13; Homozygotes: 0
Comment         -!-Familial scaphocephaly syndrome
//
ID              FGFR2_T513T(1); standard; MUTATION; PK
Accession       K00957
Systematic name g.98556C>T, c.1539C>T, r.1539c>u, p.Thr513Thr
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16010693
RefAuthors      Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., 
RefAuthors      Wilkie, A. O.
RefTitle        Fibroblast growth factor receptor 2, gain-of-function 
RefTitle        mutations, and tumourigenesis: investigating a potential 
RefTitle        link.
RefLoc          J Pathol 207:27-31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 98556
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1718
Feature           /codon: acc -> act; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 513
Feature           /change: T -> T
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Silent Mutation
//
ID              FGFR2_T524T(1); standard; MUTATION; PK
Accession       K00958
Systematic name g.100809A>G, c.1572A>G, r.1572a>g, p.Thr524Thr
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16010693
RefAuthors      Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., 
RefAuthors      Wilkie, A. O.
RefTitle        Fibroblast growth factor receptor 2, gain-of-function 
RefTitle        mutations, and tumourigenesis: investigating a potential 
RefTitle        link.
RefLoc          J Pathol 207:27-31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 100809
Feature           /change: a -> g
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1751
Feature           /codon: aca -> acg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 524
Feature           /change: T -> T
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Silent Mutation Tumourigenesis
//
ID              FGFR2_L647L(1); standard; MUTATION; PK
Accession       K00959
Systematic name g.111368C>T, c.1941C>T, r.1941c>u, p.Leu647Leu
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16010693
RefAuthors      Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., 
RefAuthors      Wilkie, A. O.
RefTitle        Fibroblast growth factor receptor 2, gain-of-function 
RefTitle        mutations, and tumourigenesis: investigating a potential 
RefTitle        link.
RefLoc          J Pathol 207:27-31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 111368
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 2120
Feature           /codon: ctc -> ctt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 647
Feature           /change: L -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Silent Mutation, Tumourigenesis
//
ID              FGFR2_S702S(1); standard; MUTATION; PK
Accession       K00960
Systematic name g.113920G>A, c.2106G>A, r.2106g>a, p.Ser702Ser
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16010693
RefAuthors      Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., 
RefAuthors      Wilkie, A. O.
RefTitle        Fibroblast growth factor receptor 2, gain-of-function 
RefTitle        mutations, and tumourigenesis: investigating a potential 
RefTitle        link.
RefLoc          J Pathol 207:27-31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 113920
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 2285
Feature           /codon: tcg -> tca; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 702
Feature           /change: S -> S
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Silent Mutation, Tumourigenesis
//
ID              FGFR2_P582L(1); standard; MUTATION; PK
Accession       K00961
Systematic name g.102754C>T, c.1745C>T, r.1745c>u, p.Pro582Leu
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            30-Jun-2011 (Rel. 3, Created)
Date            30-Jun-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16010693
RefAuthors      Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., 
RefAuthors      Wilkie, A. O.
RefTitle        Fibroblast growth factor receptor 2, gain-of-function 
RefTitle        mutations, and tumourigenesis: investigating a potential 
RefTitle        link.
RefLoc          J Pathol 207:27-31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR2_DNA: 102754
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X52832; GI:120049; X52832: 1924
Feature           /codon: ccc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR2_HUMAN: 582
Feature           /change: P -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Tumourigenesis
//
ID              NTRK1_Q562X(1); standard; MUTATION; PK
Accession       K00962
Systematic name g.16535C>T, c.1684C>T, r.1684c>u, p.Gln562X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the PK domain
Date            04-Jul-2011 (Rel. 3, Created)
Date            04-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     18077166
RefAuthors      Huehne, K., Zweier, C., Raab, K., Odent, S., Bonnaure-
RefAuthors      Mallet, M., Sixou, J. L., Landrieu, P., Goizet, C., 
RefAuthors      Sarlangue, J., Baumann, M., Eggermann, T., Rauch, A., 
RefAuthors      Ruppert, S., Stettner, G. M., Rautenstrauss, B.
RefTitle        Novel missense, insertion and deletion mutations in the 
RefTitle        neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) 
RefTitle        associated with congenital insensitivity to pain with 
RefTitle        anhidrosis.
RefLoc          Neuromuscul Disord 18:159-66
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16535
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1804
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 562
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change should be
Comment         -!-c.1684C>T and p.Q562X instead of c.1672C>T and p.Q558X
//
ID              NTRK1_L725R(1); standard; MUTATION; PK
Accession       K00963
Systematic name g.20210T>G, c.2174T>G, r.2174u>g, p.Leu725Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            04-Jul-2011 (Rel. 3, Created)
Date            04-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     18077166
RefAuthors      Huehne, K., Zweier, C., Raab, K., Odent, S., Bonnaure-
RefAuthors      Mallet, M., Sixou, J. L., Landrieu, P., Goizet, C., 
RefAuthors      Sarlangue, J., Baumann, M., Eggermann, T., Rauch, A., 
RefAuthors      Ruppert, S., Stettner, G. M., Rautenstrauss, B.
RefTitle        Novel missense, insertion and deletion mutations in the 
RefTitle        neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) 
RefTitle        associated with congenital insensitivity to pain with 
RefTitle        anhidrosis.
RefLoc          Neuromuscul Disord 18:159-66
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 20210
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2294
Feature           /codon: ctc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 725
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change should be
Comment         -!-c.2174T>G and p.L725R instead of c.2150T>G and p.L717R as
Comment         -!-reported in the article.
//
ID              NTRK1_V572G(1); standard; MUTATION; PK
Accession       K00964
Systematic name g.16566T>G, c.1715T>G, r.1715u>g, p.Val572Gly
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            04-Jul-2011 (Rel. 3, Created)
Date            04-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     18077166
RefAuthors      Huehne, K., Zweier, C., Raab, K., Odent, S., Bonnaure-
RefAuthors      Mallet, M., Sixou, J. L., Landrieu, P., Goizet, C., 
RefAuthors      Sarlangue, J., Baumann, M., Eggermann, T., Rauch, A., 
RefAuthors      Ruppert, S., Stettner, G. M., Rautenstrauss, B.
RefTitle        Novel missense, insertion and deletion mutations in the 
RefTitle        neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) 
RefTitle        associated with congenital insensitivity to pain with 
RefTitle        anhidrosis.
RefLoc          Neuromuscul Disord 18:159-66
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 16566
Feature           /change: t -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1835
Feature           /codon: gtc -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 572
Feature           /change: V -> G
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
Comment         -!-The  amino acid change should be  p.V572G instead of
Comment         -!-p.I572S as reported in the article.
//
ID              NTRK1_Q776X(1); standard; MUTATION; PK
Accession       K00965
Systematic name g.21661C>T, c.2326C>T, r.2326c>u, p.Gln776X
Description     A point mutation in the exon 16 leading to a premature stop
Description     codon in the PK domain
Date            04-Jul-2011 (Rel. 3, Created)
Date            04-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     18322713
RefAuthors      Tuysuz, B., Bayrakli, F., DiLuna, M. L., Bilguvar, K., 
RefAuthors      Bayri, Y., Yalcinkaya, C., Bursali, A., Ozdamar, E., 
RefAuthors      Korkmaz, B., Mason, C. E., Ozturk, A. K., Lifton, R. P., 
RefAuthors      State, M. W., Gunel, M.
RefTitle        Novel NTRK1 mutations cause hereditary sensory and 
RefTitle        autonomic neuropathy type IV: demonstration of a founder 
RefTitle        mutation in the Turkish population.
RefLoc          Neurogenetics 9:119-25
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 21661
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2446
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 776
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change should be
Comment         -!-c.2326C>T and p.Gln776X instead of c.2308C>T and p.Gln770X
//
ID              NTRK1_R765C(1); standard; MUTATION; PK
Accession       K00966
Systematic name g.21628C>T, c.2293C>T, r.2293c>u, p.Arg765Cys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            04-Jul-2011 (Rel. 3, Created)
Date            04-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 16373086
RefAuthors      Verpoorten, N., Claeys, K. G., Deprez, L., Jacobs, A., Van 
RefAuthors      Gerwen, V., Lagae, L., Arts, W. F., De Meirleir, L., 
RefAuthors      Keymolen, K., Ceuterick-de Groote, C., De Jonghe, P., 
RefAuthors      Timmerman, V., Nelis, E.
RefTitle        Novel frameshift and splice site mutations in the 
RefTitle        neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) 
RefTitle        associated with hereditary sensory neuropathy type IV.
RefLoc          Neuromuscul Disord 16:19-25
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: NTRK1_DNA: 21628
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2413
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TRKA_HUMAN: 765
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Congenital insensitivity to pain and anhidrosis
Occurrence      Families: 2; Patients: 2; Homozygotes: 2
Comment         -!-The nucleotide and amino acid change should be c.2293C>T
Comment         -!-and p.R765C instead of c.2281C>T and p.R761W as mentioned
Comment         -!-in the article.
//
ID              GUCY2D_P701S(1); standard; MUTATION; PK
Accession       K00967
Systematic name g.8551C>T, c.2101C>T, r.2101c>u, p.Pro701Ser
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 16272259
RefAuthors      Booij, J. C., Florijn, R. J., ten Brink, J. B., Loves, W., 
RefAuthors      Meire, F., van Schooneveld, M. J., de Jong, P. T., Bergen, 
RefAuthors      A. A.
RefTitle        Identification of mutations in the AIPL1, CRB1, GUCY2D, 
RefTitle        RPE65, and RPGRIP1 genes in patients with juvenile 
RefTitle        retinitis pigmentosa.
RefLoc          J Med Genet 42:e67
RefNumber       [2]
RefCrossRef     PUBMED; 20683928
RefAuthors      Coppieters, F., Casteels, I., Meire, F., De Jaegere, S., 
RefAuthors      Hooghe, S., van Regemorter, N., Van Esch, H., 
RefAuthors      Matuleviciene, A., Nunes, L., Meersschaut, V., Walraedt, 
RefAuthors      S., Standaert, L., Coucke, P., Hoeben, H., Kroes, H. Y., 
RefAuthors      Vande Walle, J., de Ravel, T., Leroy, B. P., De Baere, E.
RefTitle        Genetic screening of LCA in Belgium: predominance of 
RefTitle        CEP290 and identification of potential modifier alleles in 
RefTitle        AHI1 of CEP290-related phenotypes.
RefLoc          Hum Mutat 31:E1709-66
RefNumber       [6]
RefCrossRef     PUBMED; 17200655
RefAuthors      Yoshida, S., Yamaji, Y., Yoshida, A., Kuwahara, R., 
RefAuthors      Yamamoto, K., Kubata, T., Ishibashi, T.
RefTitle        Novel triple missense mutations of GUCY2D gene in Japanese 
RefTitle        family with cone-rod dystrophy: possible use of genotyping 
RefTitle        microarray.
RefLoc          Mol Vis 12:1558-64
RefNumber       [8]
RefCrossRef     PUBMED; 17724218
RefAuthors      Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, 
RefAuthors      E., Bianchi, P. E., Fossarello, M., Signorini, S., 
RefAuthors      Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., 
RefAuthors      Ciccodicola, A., Rinaldi, E., Auricchio, A., Banfi, S.
RefTitle        Clinical and molecular genetics of Leber's congenital 
RefTitle        amaurosis: a multicenter study of Italian patients.
RefLoc          Invest Ophthalmol Vis Sci 48:4284-90
RefNumber       [12]
RefCrossRef     PUBMED; 18055816
RefAuthors      Vallespin, E., Cantalapiedra, D., Riveiro-Alvarez, R., 
RefAuthors      Wilke, R., Aguirre-Lamban, J., Avila-Fernandez, A., Lopez-
RefAuthors      Martinez, M. A., Gimenez, A., Trujillo-Tiebas, M. J., 
RefAuthors      Ramos, C., Ayuso, C.
RefTitle        Mutation screening of 299 Spanish families with retinal 
RefTitle        dystrophies by Leber congenital amaurosis genotyping 
RefTitle        microarray.
RefLoc          Invest Ophthalmol Vis Sci 48:5653-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 8551
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2174
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 701
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Diagnosis       Cone-rod dystrophy
Occurrence      Families: 10; Patients: 11; Homozygotes: 1
Comment         -!-Autosomal recessive retinitis pigmentosa(ARRP)
Comment         -!-Autosomal dominant progressive cone degeneration.
//
ID              GUCY2D_R795Q(1); standard; MUTATION; PK
Accession       K00968
Systematic name g.9957G>A, c.2384G>A, r.2384g>a, p.Arg795Gln
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 17724218
RefAuthors      Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, 
RefAuthors      E., Bianchi, P. E., Fossarello, M., Signorini, S., 
RefAuthors      Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., 
RefAuthors      Ciccodicola, A., Rinaldi, E., Auricchio, A., Banfi, S.
RefTitle        Clinical and molecular genetics of Leber's congenital 
RefTitle        amaurosis: a multicenter study of Italian patients.
RefLoc          Invest Ophthalmol Vis Sci 48:4284-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 9957
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 2457
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 795
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Leber congenital amaurosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              GUCY2D_P575L(1); standard; MUTATION; PK
Accession       K00969
Systematic name g.6888C>T, c.1724C>T, r.1724c>u, p.Pro575Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 18332321
RefAuthors      Small, K. W., Silva-Garcia, R., Udar, N., Nguyen, E. V., 
RefAuthors      Heckenlively, J. R.
RefTitle        New mutation, P575L, in the GUCY2D gene in a family with 
RefTitle        autosomal dominant progressive cone degeneration.
RefLoc          Arch Ophthalmol 126:397-403
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: AJ222657: 6888
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M92432; GI:1345920; HSRETGC : 1797
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CYGD_HUMAN: 575
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Cone-rod dystrophy
Occurrence      Families: 1; Patients: 14; Homozygotes: 0
Comment         -!-Autosomal dominant progressive cone degeneration.
//
ID              ACVRL1_@T387X416(1); standard; MUTATION; PK
Accession       K00970
Systematic name g.4671_4672insA, c.1158_1159insA, r.1158_1159insa,
Systematic name p.Thr387fsX4
Description     A frame shift insertion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 20414677
RefAuthors      Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., 
RefAuthors      Ganguly, A.
RefTitle        Update on molecular diagnosis of hereditary hemorrhagic 
RefTitle        telangiectasia.
RefLoc          Hum Genet 128:61-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4672
Feature           /change: +a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1441
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 387
Feature           /change: T -> NGLLX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_N341K(1); standard; MUTATION; PK
Accession       K00971
Systematic name g.4001C>G, c.1023C>G, r.1023c>g, p.Asn341Lys
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 16470787
RefAuthors      Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, 
RefAuthors      S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, 
RefAuthors      H., Mao, R.
RefTitle        Genotype-phenotype correlation in hereditary hemorrhagic 
RefTitle        telangiectasia: mutations and manifestations.
RefLoc          Am J Med Genet A 140:463-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4001
Feature           /change: c -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1305
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 341
Feature           /change: N -> K
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_G402S(1); standard; MUTATION; PK
Accession       K00972
Systematic name g.4717G>A, c.1204G>A, r.1204g>a, p.Gly402Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 16470787
RefAuthors      Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, 
RefAuthors      S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, 
RefAuthors      H., Mao, R.
RefTitle        Genotype-phenotype correlation in hereditary hemorrhagic 
RefTitle        telangiectasia: mutations and manifestations.
RefLoc          Am J Med Genet A 140:463-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4717
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1486
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 402
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_I485F(1); standard; MUTATION; PK
Accession       K00973
Systematic name g.9360A>T, c.1453A>T, r.1453a>u, p.Ile485Phe
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [12]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9360
Feature           /change: a -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1735
Feature           /codon: atc -> ttc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 485
Feature           /change: I -> F
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 
//
ID              ACVRL1_R454W(1); standard; MUTATION; PK
Accession       K00974
Systematic name g.7624C>T, c.1360C>T, r.1360c>u, p.Arg454Trp
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [12]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7624
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1642
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 454
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_R386C(1); standard; MUTATION; PK
Accession       K00975
Systematic name g.4669C>T, c.1156C>T, r.1156c>u, p.Arg386Cys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [12]
RefCrossRef     PUBMED; 20501893
RefAuthors      Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., 
RefAuthors      Prudent, R., Feige, J. J., Bailly, S.
RefTitle        Functional analysis of the BMP9 response of ALK1 mutants 
RefTitle        from HHT2 patients: a diagnostic tool for novel ACVRL1 
RefTitle        mutations.
RefLoc          Blood 116:1604-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4669
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1438
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 386
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@A372X398(1); standard; MUTATION; PK
Accession       K00976
Systematic name g.154465dupT, c.1113dupT, r.1113dupu, p.Ala372fsX26
Description     A frame shift duplication mutation in the exon 8 leading to
Description     a premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [13]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 154466
Feature           /change: +t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1495
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 372
Feature           /change: A -> CSHKRGWHYQ IYGTRSARRS CELEGLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@H324X326(1); standard; MUTATION; PK
Accession       K00977
Systematic name g.154321dupT, c.969dupT, r.969dupu, p.His324fsX2
Description     A frame shift duplication mutation in the exon 8 leading to
Description     a premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [13]
RefCrossRef     PUBMED; 16717148
RefAuthors      Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., 
RefAuthors      Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., 
RefAuthors      Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., 
RefAuthors      Ward, K.
RefTitle        Relationship of BMPR2 mutations to vasoreactivity in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Circulation 113:2509-15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 154322
Feature           /change: +t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1351
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 324
Feature           /change: H -> SLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_@G563X596(1); standard; MUTATION; PK2
Accession       K00978
Systematic name g.103124dupT, c.1686dupT, r.1686dupu, p.Gly563fsX33
Description     A frame shift duplication mutation in the exon 18 leading
Description     to a premature stop codon in the PK2 domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103125
Feature           /change: +t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1687
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 563
Feature           /change: G -> WLCKTAESGK WSSHDSLLHC KFCCTRGFKK TRLX
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_@Q593X596(1); standard; MUTATION; PK2
Accession       K00979
Systematic name g.105074_105075insC, c.1778_1779insC, r.1778_1779insc,
Systematic name p.Gln593fsX3
Description     A frame shift insertion mutation in the exon 19 leading to
Description     a premature stop codon in the PK2 domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 16879200
RefAuthors      Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, 
RefAuthors      A.
RefTitle        Identification of novel mutations in the RSK2 
RefTitle        gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
RefLoc          Clin Genet 70:161-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 105075
Feature           /change: +c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1779
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 593
Feature           /change: Q -> HRLX
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_R443C(1); standard; MUTATION; PK
Accession       K00980
Systematic name g.166033C>T, c.1327C>T, r.1327c>u, p.Arg443Cys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED; 18823382
RefAuthors      Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, 
RefAuthors      J., Larsen-Haidle, J., Howe, J. R.
RefTitle        The rate of germline mutations and large deletions of 
RefTitle        SMAD4 and BMPR1A in juvenile polyposis.
RefLoc          Clin Genet 75:79-85
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 166033
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1636
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 443
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#I288X295(1); standard; MUTATION; PK
Accession       K00981
Systematic name g.161675delA, c.864delA, r.864dela, p.Gly290fsX2
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED; 18823382
RefAuthors      Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, 
RefAuthors      J., Larsen-Haidle, J., Howe, J. R.
RefTitle        The rate of germline mutations and large deletions of 
RefTitle        SMAD4 and BMPR1A in juvenile polyposis.
RefLoc          Clin Genet 75:79-85
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 161675
Feature           /change: -a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1173
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 288
Feature           /change: I -> ILVSX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_@L307X311(1); standard; MUTATION; PK
Accession       K00982
Systematic name g.163574_163575insA, c.918_919insA, r.918_919insa,
Systematic name p.Leu307fsX3
Description     A frame shift insertion mutation in the exon 10 leading to
Description     a premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED; 18823382
RefAuthors      Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, 
RefAuthors      J., Larsen-Haidle, J., Howe, J. R.
RefTitle        The rate of germline mutations and large deletions of 
RefTitle        SMAD4 and BMPR1A in juvenile polyposis.
RefLoc          Clin Genet 75:79-85
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163575
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1228
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 307
Feature           /change: L -> IDYX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#K355X363(1); standard; MUTATION; PK
Accession       K00983
Systematic name g.163720delA, c.1064delA, r.1064dela, p.Lys355fsX8
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED; 18823382
RefAuthors      Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, 
RefAuthors      J., Larsen-Haidle, J., Howe, J. R.
RefTitle        The rate of germline mutations and large deletions of 
RefTitle        SMAD4 and BMPR1A in juvenile polyposis.
RefLoc          Clin Genet 75:79-85
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163720
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1373
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 355
Feature           /change: K -> SPQLLIETX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#Q353X363(1); standard; MUTATION; PK
Accession       K00984
Systematic name g.163715delA, c.1059delA, r.1059dela, p.Gly354fsX9
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED; 18823382
RefAuthors      Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, 
RefAuthors      J., Larsen-Haidle, J., Howe, J. R.
RefTitle        The rate of germline mutations and large deletions of 
RefTitle        SMAD4 and BMPR1A in juvenile polyposis.
RefLoc          Clin Genet 75:79-85
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163715
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1368
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 353
Feature           /change: Q -> QESPQLLIET X
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E386K(1); standard; MUTATION; PK
Accession       K00985
Systematic name g.156138G>A, c.1156G>A, r.1156g>a, p.Glu386Lys
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [16]
RefCrossRef     PUBMED; 18503968
RefAuthors      Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. 
RefAuthors      K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, 
RefAuthors      N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J.
RefTitle        Clinical implications of determining BMPR2 mutation status 
RefTitle        in a large cohort of children and adults with pulmonary 
RefTitle        arterial hypertension.
RefLoc          J Heart Lung Transplant 27:668-74
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156138
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1537
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 386
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Nucleotide change differ(p.E386K)from the article (p.E386Q)
//
ID              BMPR1A_@G354X380(1); standard; MUTATION; PK
Accession       K00986
Systematic name g.163717G>C, c.1061G>C, r.1061g>c, p.Gly354Ala
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [17]
RefCrossRef     PUBMED; 16436638
RefAuthors      Pyatt, R. E., Pilarski, R., Prior, T. W.
RefTitle        Mutation screening in juvenile polyposis syndrome.
RefLoc          J Mol Diagn 8:84-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163717
Feature           /change: g -> c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1370
Feature           /codon: gga -> gca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 354
Feature           /change: G -> A
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_W217X(1); standard; MUTATION; PK
Accession       K00987
Systematic name g.2990G>A, c.651G>A, r.651g>a, p.Trp217X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2990
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 933
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 217
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_G219D(1); standard; MUTATION; PK
Accession       K00988
Systematic name g.2995G>A, c.656G>A, r.656g>a, p.Gly219Asp
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
RefNumber       [6]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 2995
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 938
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 219
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_I260L(1); standard; MUTATION; PK
Accession       K00989
Systematic name g.3756A>C, c.778A>C, r.778a>c, p.Ile260Leu
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3756
Feature           /change: a -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1060
Feature           /codon: atc -> ctc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 260
Feature           /change: I -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_F331S(1); standard; MUTATION; PK
Accession       K00990
Systematic name g.3970T>C, c.992T>C, r.992u>c, p.Phe331Ser
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3970
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1274
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 331
Feature           /change: F -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_Y426C(1); standard; MUTATION; PK
Accession       K00991
Systematic name g.7541A>G, c.1277A>G, r.1277a>g, p.Tyr426Cys
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7541
Feature           /change: a -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1559
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 426
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P433R(1); standard; MUTATION; PK
Accession       K00992
Systematic name g.7562C>G, c.1298C>G, r.1298c>g, p.Pro433Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7562
Feature           /change: c -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1580
Feature           /codon: ccc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 433
Feature           /change: P -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#K440-1(1); standard; MUTATION; PK
Accession       K00993
Systematic name g.7582delA, c.1318delA, r.1318dela, p.Lys440fsX24
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7582
Feature           /change: -a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1600
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 440
Feature           /change: K -> RWCVWISRPP PSLTGWLQTR SSQAX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_C471X(1); standard; MUTATION; PK
Accession       K00994
Systematic name g.9320C>A, c.1413C>A, r.1413c>a, p.Cys471X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9320
Feature           /change: c -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1695
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 471
Feature           /change: C -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_@I485X493(1); standard; MUTATION; PK
Accession       K00995
Systematic name g.9360dupA, c.1453dupA, r.1453dupa, p.Ile485fsX8
Description     A frame shift duplication mutation in the exon 9 leading to
Description     a premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 16752392
RefAuthors      Bossler, A. D., Richards, J., George, C., Godmilow, L., 
RefAuthors      Ganguly, A.
RefTitle        Novel mutations in ENG and ACVRL1 identified in a series 
RefTitle        of 200 individuals undergoing clinical genetic testing for 
RefTitle        hereditary hemorrhagic telangiectasia (HHT): correlation 
RefTitle        of genotype with phenotype.
RefLoc          Hum Mutat 27:667-75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9361
Feature           /change: +a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1736
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 485
Feature           /change: I -> NQEDTTKNX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_#G354X363(1); standard; MUTATION; PK
Accession       K00996
Systematic name g.163717delG, c.1061delG, r.1061delg, p.Gly354fsX9
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [20]
RefCrossRef     PUBMED; 18178612
RefAuthors      van Hattem, W. A., Brosens, L. A., de Leng, W. W., 
RefAuthors      Morsink, F. H., Lens, S., Carvalho, R., Giardiello, F. M., 
RefAuthors      Offerhaus, G. J.
RefTitle        Large genomic deletions of SMAD4, BMPR1A and PTEN in 
RefTitle        juvenile polyposis.
RefLoc          Gut 57:623-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR1A_DNA: 163717
Feature           /change: -g
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1370
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 354
Feature           /change: G -> ESPQLLIETX
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1A_R480W(1); standard; MUTATION; PK
Accession       K00997
Systematic name g.167824C>T, c.1438C>T, r.1438c>u, p.Arg480Trp
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [20]
RefCrossRef     PUBMED; 18178612
RefAuthors      van Hattem, W. A., Brosens, L. A., de Leng, W. W., 
RefAuthors      Morsink, F. H., Lens, S., Carvalho, R., Giardiello, F. M., 
RefAuthors      Offerhaus, G. J.
RefTitle        Large genomic deletions of SMAD4, BMPR1A and PTEN in 
RefTitle        juvenile polyposis.
RefLoc          Gut 57:623-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 167824
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1747
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 480
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Juvenile polyposis syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_W504X(1); standard; MUTATION; PK
Accession       K00998
Systematic name g.82621G>A, c.1511G>A, r.1511g>a, p.Trp504X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [21]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 82621
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3083
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 504
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Hereditary nonpolyposis colorectal cancer
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_R378G(1); standard; MUTATION; PK
Accession       K00999
Systematic name g.66438A>G, c.1132A>G, r.1132a>g, p.Arg378Gly
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [22]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66438
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2704
Feature           /codon: agg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 378
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_W521X(1); standard; MUTATION; PK
Accession       K01000
Systematic name g.85580G>A, c.1562G>A, r.1562g>a, p.Trp521X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [22]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 85580
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 3134
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 521
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_M425V(1); standard; MUTATION; PK
Accession       K01001
Systematic name g.68246A>G, c.1273A>G, r.1273a>g, p.Met425Val
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            05-Jul-2011 (Rel. 3, Created)
Date            05-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [22]
RefCrossRef     PUBMED; 18781618
RefAuthors      Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., 
RefAuthors      Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, 
RefAuthors      C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., 
RefAuthors      Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., 
RefAuthors      Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C.
RefTitle        Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations 
RefTitle        and genotype-phenotype investigations in 457 patients with 
RefTitle        Marfan syndrome type I and II, Loeys-Dietz syndrome and 
RefTitle        related disorders.
RefLoc          Hum Mutat 29:E284-95
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68246
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2845
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 425
Feature           /change: M -> V
Feature           /domain: PK
Diagnosis       Loeys-Dietz syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@G220X224(1); standard; MUTATION; PK
Accession       K01002
Systematic name g.142385dupG, c.659dupG, r.659dupg, p.Ser221fsX3
Description     A frame shift duplication mutation in the exon 6 leading to
Description     a premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 142386
Feature           /change: +g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1041
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 220
Feature           /change: G -> GLLGX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E265G(1); standard; MUTATION; PK
Accession       K01003
Systematic name g.142520A>G, c.794A>G, r.794a>g, p.Glu265Gly
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142520
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1175
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 265
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_R266T(1); standard; MUTATION; PK
Accession       K01004
Systematic name g.142523G>C, c.797G>C, r.797g>c, p.Arg266Thr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142523
Feature           /change: g -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1178
Feature           /codon: aga -> aca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 266
Feature           /change: R -> T
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_A269S(1); standard; MUTATION; PK
Accession       K01005
Systematic name g.142531G>T, c.805G>T, r.805g>u, p.Ala269Ser
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142531
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1186
Feature           /codon: gca -> tca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 269
Feature           /change: A -> S
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change (c.805G>T and
Comment         -!-p.A269S) differs from the reference article (c.806G>T and
Comment         -!-p.A268V.
//
ID              BMPR2_G311E(1); standard; MUTATION; PK
Accession       K01006
Systematic name g.143692G>A, c.932G>A, r.932g>a, p.Gly311Glu
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143692
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1313
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 311
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_C397X(2); standard; MUTATION; PK
Accession       K01007
Systematic name g.156171delT, c.1189delT, r.1189delu, p.Cys397fsX4
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
RefNumber       [3]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156171
Feature           /change: -t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1570
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 397
Feature           /change: C -> VNQLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The amino acid change differ(p.C397X) from the reference
Comment         -!-article(p.C347X)
//
ID              BMPR2_#R365X374(1); standard; MUTATION; PK
Accession       K01008
Systematic name g.154445delC, c.1093delC, r.1093delc, p.Arg365fsX9
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 154445
Feature           /change: -c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1474
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 365
Feature           /change: R -> AQGRKIMQPX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#D405X411(1); standard; MUTATION; PK
Accession       K01009
Systematic name g.156196delA, c.1214delA, r.1214dela, p.Asp405fsX6
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156196
Feature           /change: -a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1595
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 405
Feature           /change: D -> ACMLLDX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#I416X417(1); standard; MUTATION; PK
Accession       K01010
Systematic name g.156230delA, c.1248delA, r.1248dela, p.Phe417fsX1
Description     A frame shift deletion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156230
Feature           /change: -a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1629
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 416
Feature           /change: I -> ILX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@F424X447(2); standard; MUTATION; PK
Accession       K01011
Systematic name g.156253T>C, c.1271T>C, r.1271u>c, p.Phe424Ser
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156253
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1652
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 424
Feature           /change: F -> S
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_D487V(1); standard; MUTATION; PK
Accession       K01012
Systematic name g.176288A>T, c.1460A>T, r.1460a>u, p.Asp487Val
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19555857
RefAuthors      Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. 
RefAuthors      W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. 
RefAuthors      A., Soubrier, F., Trembath, R. C., Chung, W. K.
RefTitle        Genetics and genomics of pulmonary arterial hypertension.
RefLoc          J Am Coll Cardiol 54:S32-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176288
Feature           /change: a -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1841
Feature           /codon: gat -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 487
Feature           /change: D -> V
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_C496Y(1); standard; MUTATION; PK
Accession       K01013
Systematic name g.176315G>A, c.1487G>A, r.1487g>a, p.Cys496Tyr
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176315
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1868
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 496
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The amino acid change differs(p.C496Y) from the reference
Comment         -!-article(p.R496Y)
//
ID              BMPR2_@S221X224(1); standard; MUTATION; PK
Accession       K01014
Systematic name g.142386_142387insG, c.660_661insG, r.660_661insg,
Systematic name p.Ser221fsX3
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: BMPR2_DNA: 142387
Feature           /change: +g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1042
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 221
Feature           /change: S -> VLGX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@L222X230(1); standard; MUTATION; PK
Accession       K01015
Systematic name g.142390T>A, c.664T>A, r.664u>a, p.Leu222Met
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142390
Feature           /change: t -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1045
Feature           /codon: ttg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 222
Feature           /change: L -> M
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#D264X278(1); standard; MUTATION; PK
Accession       K01016
Systematic name g.142516delG, c.790delG, r.790delg, p.Asp264fsX14
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 142516
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1171
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 264
Feature           /change: D -> MRESLQMDAW NICLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_M273R(1); standard; MUTATION; PK
Accession       K01017
Systematic name g.142544T>G, c.818T>G, r.818u>g, p.Met273Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 142544
Feature           /change: t -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1199
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 273
Feature           /change: M -> R
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#G285X291(1); standard; MUTATION; PK
Accession       K01018
Systematic name g.143615delA, c.855delA, r.855dela, p.Ser286fsX5
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 143615
Feature           /change: -a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1236
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 285
Feature           /change: G -> GLYASIX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_L287X(1); standard; MUTATION; PK
Accession       K01019
Systematic name g.143620T>A, c.860T>A, r.860u>a, p.Leu287X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143620
Feature           /change: t -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1241
Feature           /codon: tta -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 287
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_R303H(1); standard; MUTATION; PK
Accession       K01020
Systematic name g.143668G>A, c.908G>A, r.908g>a, p.Arg303His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143668
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1289
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 303
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_A313P(1); standard; MUTATION; PK
Accession       K01021
Systematic name g.143697G>C, c.937G>C, r.937g>c, p.Ala313Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 143697
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1318
Feature           /codon: gct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 313
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@D323X326(1); standard; MUTATION; PK
Accession       K01022
Systematic name g.154320dupA, c.968dupA, r.968dupa, p.Asp323fsX3
Description     A frame shift duplication mutation in the exon 8 leading to
Description     a premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 154321
Feature           /change: +a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1350
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 323
Feature           /change: D -> ESLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#P327X334(1); standard; MUTATION; PK
Accession       K01023
Systematic name g.154332delC, c.980delC, r.980delc, p.Pro327fsX7
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 154332
Feature           /change: -c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1361
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 327
Feature           /change: P -> LQFPIEIX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_C347R(1); standard; MUTATION; PK
Accession       K01024
Systematic name g.154391T>C, c.1039T>C, r.1039u>c, p.Cys347Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 154391
Feature           /change: t -> c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1420
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 347
Feature           /change: C -> R
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#N371X374(1); standard; MUTATION; PK
Accession       K01025
Systematic name g.154465delT, c.1113delT, r.1113delu, p.Asn371fsX3
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 154465
Feature           /change: -t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1494
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 371
Feature           /change: N -> KQPX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_I374X(1); standard; MUTATION; PK
Accession       K01026
Systematic name g.154472delA, c.1120delA, r.1120dela, p.Ile374X
Description     A deletion mutation in the exon 8 leading to a premature
Description     stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 154472
Feature           /change: -a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1501
Feature           /codon: ata -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 374
Feature           /change: I -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_S399X(1); standard; MUTATION; PK
Accession       K01027
Systematic name g.156178C>G, c.1196C>G, r.1196c>g, p.Ser399X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156178
Feature           /change: c -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1577
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 399
Feature           /change: S -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_L401S(1); standard; MUTATION; PK
Accession       K01028
Systematic name g.156184T>C, c.1202T>C, r.1202u>c, p.Leu401Ser
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156184
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1583
Feature           /codon: ttg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 401
Feature           /change: L -> S
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_W414X(1); standard; MUTATION; PK
Accession       K01029
Systematic name g.156223G>A, c.1241G>A, r.1241g>a, p.Trp414X
Description     A point mutation in the exon 9 leading to a premature stop
Description     codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156223
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1622
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 414
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@I416X447(1); standard; MUTATION; PK
Accession       K01030
Systematic name g.156228_156229insG, c.1246_1247insG, r.1246_1247insg,
Systematic name p.Ile416fsX31
Description     A frame shift insertion mutation in the exon 9 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: BMPR2_DNA: 156229
Feature           /change: +g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1628
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 416
Feature           /change: I -> SIYEMYRPLP RGIRTRVPDG FSDRGWKPSH FX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#T438X472(1); standard; MUTATION; PK
Accession       K01031
Systematic name g.165873delC, c.1313delC, r.1313delc, p.Thr438fsX35
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
RefNumber       [3]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 165873
Feature           /change: -c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1694
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 438
Feature           /change: T -> KRLETIPLLR ICRFSCLGKN RDPSSQKPGK KIAWQX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR2_Q450X(1); standard; MUTATION; PK
Accession       K01032
Systematic name g.165908C>T, c.1348C>T, r.1348c>u, p.Gln450X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
RefNumber       [3]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 165908
Feature           /change: c -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1729
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 450
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_E386G(1); standard; MUTATION; PK
Accession       K01033
Systematic name g.156139A>G, c.1157A>G, r.1157a>g, p.Glu386Gly
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 156139
Feature           /change: a -> g
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1538
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 386
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_@E464X470(1); standard; MUTATION; PK
Accession       K01034
Systematic name g.165949dupA, c.1389dupA, r.1389dupa, p.Glu464fsX6
Description     A frame shift duplication mutation in the exon 10 leading
Description     to a premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: BMPR2_DNA: 165950
Feature           /change: +a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1771
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 464
Feature           /change: E -> RSLERKX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_Q495X(1); standard; MUTATION; PK
Accession       K01035
Systematic name g.176311C>T, c.1483C>T, r.1483c>u, p.Gln495X
Description     A point mutation in the exon 11 leading to a premature stop
Description     codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED; 15591269
RefAuthors      Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., 
RefAuthors      Olschewski, H., Wilkens, H., Halank, M., Winkler, J., 
RefAuthors      Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., 
RefAuthors      Nichols, W. C.
RefTitle        Low frequency of BMPR2 mutations in a German cohort of 
RefTitle        patients with sporadic idiopathic pulmonary arterial 
RefTitle        hypertension.
RefLoc          J Med Genet 41:e127
RefNumber       [6]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176311
Feature           /change: c -> t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1864
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 495
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_S475X(1); standard; MUTATION; PK
Accession       K01036
Systematic name g.176252C>A, c.1424C>A, r.1424c>a, p.Ser475X
Description     A point mutation in the exon 11 leading to a premature stop
Description     codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176252
Feature           /change: c -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1805
Feature           /codon: tca -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 475
Feature           /change: S -> X
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR2_#L476X505(1); standard; MUTATION; PK
Accession       K01037
Systematic name g.176255delT, c.1427delT, r.1427delu, p.Leu476fsX29
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: BMPR2_DNA: 176255
Feature           /change: -t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1808
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 476
Feature           /change: L -> PRRQSKTVGT RMQRLGLLHS VLRKGWLNLX
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Nucleotide change differc(c.1427delT) from the reference
Comment         -!-article (c.1426delT)
//
ID              BMPR2_E503D(1); standard; MUTATION; PK
Accession       K01038
Systematic name g.176337A>C, c.1509A>C, r.1509a>c, p.Glu503Asp
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429395
RefAuthors      Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., 
RefAuthors      Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., 
RefAuthors      Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., 
RefAuthors      Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., 
RefAuthors      Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., 
RefAuthors      Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., 
RefAuthors      Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., 
RefAuthors      Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., 
RefAuthors      Trembath, R. C.
RefTitle        Mutations of the TGF-beta type II receptor BMPR2 in 
RefTitle        pulmonary arterial hypertension.
RefLoc          Hum Mutat 27:121-32
RefNumber       [6]
RefCrossRef     PUBMED; 15358693
RefAuthors      Roberts, K. E., McElroy, J. J., Wong, W. P., Yen, E., 
RefAuthors      Widlitz, A., Barst, R. J., Knowles, J. A., Morse, J. H.
RefTitle        BMPR2 mutations in pulmonary arterial hypertension with 
RefTitle        congenital heart disease.
RefLoc          Eur Respir J 24:371-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR2_DNA: 176337
Feature           /change: a -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1890
Feature           /codon: gaa -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR2_HUMAN: 503
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Primary pulmonary hypertension
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_L769L(1); standard; MUTATION; PK
Accession       K01040
Systematic name g.42332G>T, c.2307G>T, r.2307g>u, p.Leu769Leu
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED;     21134561
RefAuthors      Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., 
RefAuthors      Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. 
RefAuthors      J.
RefTitle        Single nucleotide polymorphisms act as modifiers and 
RefTitle        correlate with the development of medullary and 
RefTitle        simultaneous medullary/papillary thyroid carcinomas in 2 
RefTitle        large, non-related families with the RET V804M proto-
RefTitle        oncogene mutation.
RefLoc          Surgery 148:1274-80; discussion 1280-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42332
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2502
Feature           /codon: ctg -> ctt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 769
Feature           /change: L -> L
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 2; Patients: 22; Homozygotes: 9
Comment         -!-Single nucleotide polymorphisms(SNPs)analysis in
Comment         -!-correlation to pathology results in 2families. Silent
Comment         -!-Mutation
//
ID              RET_S836I(1); standard; MUTATION; PK
Accession       K01042
Systematic name g.43582G>T, c.2507G>T, r.2507g>u, p.Ser836Ile
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            06-Jul-2011 (Rel. 3, Created)
Date            06-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED;     21134561
RefAuthors      Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., 
RefAuthors      Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. 
RefAuthors      J.
RefTitle        Single nucleotide polymorphisms act as modifiers and 
RefTitle        correlate with the development of medullary and 
RefTitle        simultaneous medullary/papillary thyroid carcinomas in 2 
RefTitle        large, non-related families with the RET V804M proto-
RefTitle        oncogene mutation.
RefLoc          Surgery 148:1274-80; discussion 1280-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43582
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2702
Feature           /codon: agc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 836
Feature           /change: S -> I
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Comment         -!-Single nucleotide polymorphisms(SNPs)analysis in
Comment         -!-correlation to pathology results in 2families. Nucleotide
Comment         -!-and amino acid change differs(c.2507G>T and p.S836I) from
Comment         -!-the reference article(c.2508G>T and p.S836S)
//
ID              RET_R820C(1); standard; MUTATION; PK
Accession       K01043
Systematic name g.43533C>T, c.2458C>T, r.2458c>u, p.Arg820Cys
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            07-Jul-2011 (Rel. 3, Created)
Date            07-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED;     20373984
RefAuthors      Pazaitou-Panayiotou, K., Giatzakis, C., Koutsodontis, G., 
RefAuthors      Vratimos, A., Chrisoulidou, A., Konstantinidis, T., 
RefAuthors      Kamakari, S.
RefTitle        Identification of two novel mutations in the RET proto-
RefTitle        oncogene in the same family.
RefLoc          Thyroid 20:401-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43533
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2653
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 820
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              RET_R770Q(1); standard; MUTATION; PK
Accession       K01044
Systematic name g.42334G>A, c.2309G>A, r.2309g>a, p.Arg770Gln
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            07-Jul-2011 (Rel. 3, Created)
Date            07-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     20013610
RefAuthors      Frank-Raue, K., Dohring, J., Scheumann, G., Rondot, S., 
RefAuthors      Lorenz, A., Schulze, E., Dralle, H., Raue, F., Leidig-
RefAuthors      Bruckner, G.
RefTitle        New mutations in the RET protooncogene-L881V - associated 
RefTitle        with medullary thyroid carcinoma and -R770Q - in a patient 
RefTitle        with mixed medullar/follicular thyroid tumour.
RefLoc          Exp Clin Endocrinol Diabetes 118:550-3
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42334
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2504
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 770
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Comment         -!-Heredity medullary thyroid carcinoma
//
ID              RET_L881V(1); standard; MUTATION; PK
Accession       K01045
Systematic name g.44051C>G, c.2641C>G, r.2641c>g, p.Leu881Val
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            07-Jul-2011 (Rel. 3, Created)
Date            07-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     20013610
RefAuthors      Frank-Raue, K., Dohring, J., Scheumann, G., Rondot, S., 
RefAuthors      Lorenz, A., Schulze, E., Dralle, H., Raue, F., Leidig-
RefAuthors      Bruckner, G.
RefTitle        New mutations in the RET protooncogene-L881V - associated 
RefTitle        with medullary thyroid carcinoma and -R770Q - in a patient 
RefTitle        with mixed medullar/follicular thyroid tumour.
RefLoc          Exp Clin Endocrinol Diabetes 118:550-3
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44051
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2836
Feature           /codon: ctg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 881
Feature           /change: L -> V
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-Heredity medullary thyroid carcinoma
//
ID              STK11_C210C(1); standard; MUTATION; PK
Accession       K01046
Systematic name g.14700C>T, c.630C>T, r.630c>u, p.Cys210Cys
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            12-Jul-2011 (Rel. 3, Created)
Date            12-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 17088437
RefAuthors      Ikediobi, O. N., Davies, H., Bignell, G., Edkins, S., 
RefAuthors      Stevens, C., O'Meara, S., Santarius, T., Avis, T., 
RefAuthors      Barthorpe, S., Brackenbury, L., Buck, G., Butler, A., 
RefAuthors      Clements, J., Cole, J., Dicks, E., Forbes, S., Gray, K., 
RefAuthors      Halliday, K., Harrison, R., Hills, K., Hinton, J., Hunter, 
RefAuthors      C., Jenkinson, A., Jones, D., Kosmidou, V., Lugg, R., 
RefAuthors      Menzies, A., Mironenko, T., Parker, A., Perry, J., Raine, 
RefAuthors      K., Richardson, D., Shepherd, R., Small, A., Smith, R., 
RefAuthors      Solomon, H., Stephens, P., Teague, J., Tofts, C., Varian, 
RefAuthors      J., Webb, T., West, S., Widaa, S., Yates, A., Reinhold, 
RefAuthors      W., Weinstein, J. N., Stratton, M. R., Futreal, P. A., 
RefAuthors      Wooster, R.
RefTitle        Mutation analysis of 24 known cancer genes in the NCI-60 
RefTitle        cell line set.
RefLoc          Mol Cancer Ther 5:2606-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14700
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 968
Feature           /codon: tgc -> tgt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 210
Feature           /change: C -> C
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CHEK2_S428F(1); standard; MUTATION; PK
Accession       K01047
Systematic name g.50491C>T, c.1283C>T, r.1283c>u, p.Ser428Phe
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 15649950
RefAuthors      Shaag, A., Walsh, T., Renbaum, P., Kirchhoff, T., Nafa, 
RefAuthors      K., Shiovitz, S., Mandell, J. B., Welcsh, P., Lee, M. K., 
RefAuthors      Ellis, N., Offit, K., Levy-Lahad, E., King, M. C.
RefTitle        Functional and genomic approaches reveal an ancient CHEK2 
RefTitle        allele associated with breast cancer in the Ashkenazi 
RefTitle        Jewish population.
RefLoc          Hum Mol Genet 14:555-63
RefNumber       [3]
RefCrossRef     PUBMED; 18085035
RefAuthors      Laitman, Y., Kaufman, B., Lahad, E. L., Papa, M. Z., 
RefAuthors      Friedman, E.
RefTitle        Germline CHEK2 mutations in Jewish Ashkenazi women at high 
RefTitle        risk for breast cancer.
RefLoc          Isr Med Assoc J 9:791-6
RefNumber       [7]
RefCrossRef     PUBMED; 18571837
RefAuthors      Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. 
RefAuthors      M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., 
RefAuthors      Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, 
RefAuthors      L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, 
RefAuthors      W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, 
RefAuthors      W. D.
RefTitle        Identification and characterization of novel SNPs in CHEK2 
RefTitle        in Ashkenazi Jewish men with prostate cancer.
RefLoc          Cancer Lett 270:173-80
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 50491
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1319
Feature           /codon: tct -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 428
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Breast cancer
Diagnosis       Hereditary prostate cancer (HPC)
Occurrence      Families: 7; Patients: 17; Homozygotes: 0
Comment         -!-SNPs in CHEK2 with Prostate cancer
//
ID              CHEK2_Y424H(1); standard; MUTATION; PK
Accession       K01048
Systematic name g.50478T>C, c.1270T>C, r.1270u>c, p.Tyr424His
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 18085035
RefAuthors      Laitman, Y., Kaufman, B., Lahad, E. L., Papa, M. Z., 
RefAuthors      Friedman, E.
RefTitle        Germline CHEK2 mutations in Jewish Ashkenazi women at high 
RefTitle        risk for breast cancer.
RefLoc          Isr Med Assoc J 9:791-6
RefNumber       [6]
RefCrossRef     PUBMED; 18571837
RefAuthors      Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. 
RefAuthors      M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., 
RefAuthors      Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, 
RefAuthors      L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, 
RefAuthors      W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, 
RefAuthors      W. D.
RefTitle        Identification and characterization of novel SNPs in CHEK2 
RefTitle        in Ashkenazi Jewish men with prostate cancer.
RefLoc          Cancer Lett 270:173-80
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 50478
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1306
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 424
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       Breast cancer
Occurrence      Families: 5; Patients: 10; Homozygotes: 0
Comment         -!-Polymorphic variant
Comment         -!-SNPs in CHEK2 with Prostate cancer
//
ID              CHEK2_R406H(1); standard; MUTATION; PK
Accession       K01049
Systematic name g.49958G>A, c.1217G>A, r.1217g>a, p.Arg406His
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18706089
RefAuthors      Novak, D. J., Chen, L. Q., Ghadirian, P., Hamel, N., 
RefAuthors      Zhang, P., Rossiny, V., Cardinal, G., Robidoux, A., Tonin, 
RefAuthors      P. N., Rousseau, F., Narod, S. A., Foulkes, W. D.
RefTitle        Identification of a novel CHEK2 variant and assessment of 
RefTitle        its contribution to the risk of breast cancer in French 
RefTitle        Canadian women.
RefLoc          BMC Cancer 8:239
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 49958
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1253
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 406
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Breast cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CHEK2_E394K(1); standard; MUTATION; PK
Accession       K01050
Systematic name g.49921G>A, c.1180G>A, r.1180g>a, p.Glu394Lys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18571837
RefAuthors      Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. 
RefAuthors      M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., 
RefAuthors      Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, 
RefAuthors      L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, 
RefAuthors      W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, 
RefAuthors      W. D.
RefTitle        Identification and characterization of novel SNPs in CHEK2 
RefTitle        in Ashkenazi Jewish men with prostate cancer.
RefLoc          Cancer Lett 270:173-80
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 49921
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1216
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 394
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Hereditary prostate cancer (HPC)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-SNPs in CHEK2 with Prostate cancer
//
ID              CHEK2_D438Y(1); standard; MUTATION; PK
Accession       K01051
Systematic name g.50520G>T, c.1312G>T, r.1312g>u, p.Asp438Tyr
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18571837
RefAuthors      Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. 
RefAuthors      M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., 
RefAuthors      Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, 
RefAuthors      L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, 
RefAuthors      W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, 
RefAuthors      W. D.
RefTitle        Identification and characterization of novel SNPs in CHEK2 
RefTitle        in Ashkenazi Jewish men with prostate cancer.
RefLoc          Cancer Lett 270:173-80
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: CHEK2_DNA: 50520
Feature           /change: g -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: BC004207; GI:6685284; BC004207: 1348
Feature           /codon: gat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CHK2_HUMAN: 438
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Hereditary prostate cancer (HPC)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-SNPs in CHEK2 with Prostate cancer
//
ID              STK11_#R297X335(1); standard; MUTATION; PK
Accession       K01052
Systematic name g.16063delG, c.890delG, r.890delg, p.Arg297fsX38
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 15617552
RefAuthors      Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., 
RefAuthors      Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., 
RefAuthors      Sugimura, H.
RefTitle        A novel STK11 germline mutation in two siblings with Peutz-
RefTitle        Jeghers syndrome complicated by primary gastric cancer.
RefLoc          Clin Genet 67:81-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 16063
Feature           /change: -g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1228
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 297
Feature           /change: R -> SSPSGRSGST AGSGRNILRL KHQCPSHRAQ TPRTGGAAX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y118X(1); standard; MUTATION; PK
Accession       K01053
Systematic name g.12567C>G, c.354C>G, r.354c>g, p.Tyr118X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 12567
Feature           /change: c -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 692
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 118
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              STK11_Y156X(1); standard; MUTATION; PK
Accession       K01054
Systematic name g.14463C>G, c.468C>G, r.468c>g, p.Tyr156X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14463
Feature           /change: c -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 806
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 156
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 5; Homozygotes: 0
//
ID              STK11_@I172X265(2); standard; MUTATION; PK
Accession       K01055
Systematic name g.14508_14509insT, c.513_514insT, r.513_514insu,
Systematic name p.Ile172fsX93
Description     A frame shift insertion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: STK11_DNA: 14509
Feature           /change: +t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 852
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 172
Feature           /change: I -> 
Feature           /change: YCAQGHQAGE PAAHHRWHPQ NLRPGRGRGT APVRGGRHLP
Feature           /change: DQPGLPGFPA ARDCQRPGHL LRLQGGHLVG WGHPLQHHHG
Feature           /change: SVPLRRGQHL QVVX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              STK11_#Q214X286(1); standard; MUTATION; PK
Accession       K01056
Systematic name g.14712delG, c.642delG, r.642delg, p.Gly215fsX71
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14712
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 980
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 214
Feature           /change: Q -> 
Feature           /change: QAPRLSSRPR LPTAWTPSPA SRWTSGRLGS PSTTSPRVCT
Feature           /change: PSKGTTSTSC LRTSGRGATP SRATVAPRSL TCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              STK11_@E223X287(1); standard; MUTATION; PK
Accession       K01057
Systematic name g.14736_14737insG, c.666_667insG, r.666_667insg,
Systematic name p.Glu223fsX42
Description     A frame shift insertion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: STK11_DNA: 14737
Feature           /change: +g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1005
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 223
Feature           /change: E -> 
Feature           /change: GDCQRPGHLL RLQGGHLVGW GHPLQHHHGS VPLRRGQHLQ VVX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              STK11_@G279X284(1); standard; MUTATION; PK
Accession       K01058
Systematic name g.15400_15401insC, c.835_836insC, r.835_836insc,
Systematic name p.Gly279fsX5
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [7]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: STK11_DNA: 15401
Feature           /change: +c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1174
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 279
Feature           /change: G -> APPALX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 5; Patients: 11; Homozygotes: 0
//
ID              STK11_Y49X(1); standard; MUTATION; PK
Accession       K01059
Systematic name g.1147C>A, c.147C>A, r.147c>a, p.Tyr49X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1147
Feature           /change: c -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 485
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 49
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#L55X63(1); standard; MUTATION; PK
Accession       K01060
Systematic name g.1165delG, c.165delG, r.165delg, p.Glu57fsX6
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1165
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 503
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 55
Feature           /change: L -> LGKALTARX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#E165X286(1); standard; MUTATION; PK
Accession       K01061
Systematic name g.14488delG, c.493delG, r.493delg, p.Glu165fsX121
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14488
Feature           /change: -g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 831
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 165
Feature           /change: E -> 
Feature           /change: STCIARALCT RTSSRGTCCS PPVAPSKSPT WAWPRHCTRS
Feature           /change: RRTTPAGPAR APRLSSRPRL PTAWTPSPAS RWTSGRLGSP
Feature           /change: STTSPRVCTP SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              STK11_@S169X265(2); standard; MUTATION; PK
Accession       K01062
Systematic name g.14501dupG, c.506dupG, r.506dupg, p.Ser169fsX96
Description     A frame shift duplication mutation in the exon 4 leading to
Description     a premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 14502
Feature           /change: +g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 845
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 169
Feature           /change: S -> 
Feature           /change: RPGHCAQGHQ AGEPAAHHRW HPQNLRPGRG RGTAPVRGGR
Feature           /change: HLPDQPGLPG FPAARDCQRP GHLLRLQGGH LVGWGHPLQH
Feature           /change: HHGSVPLRRG QHLQVVX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              STK11_Q214X(1); standard; MUTATION; PK
Accession       K01063
Systematic name g.14710C>T, c.640C>T, r.640c>u, p.Gln214X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [4]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14710
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 978
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 214
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 5; Homozygotes: 0
//
ID              STK11_#W239X286(1); standard; MUTATION; PK
Accession       K01064
Systematic name g.14786delG, c.716delG, r.716delg, p.Trp239fsX47
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14786
Feature           /change: -g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1054
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 239
Feature           /change: W -> 
Feature           /change: CRLGSPSTTS PRVCTPSKGT TSTSCLRTSG RGATPSRATV
Feature           /change: APRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_L245R(1); standard; MUTATION; PK
Accession       K01065
Systematic name g.14804T>G, c.734T>G, r.734u>g, p.Leu245Arg
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14804
Feature           /change: t -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1072
Feature           /codon: ctc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 245
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#L263X286(1); standard; MUTATION; PK
Accession       K01066
Systematic name g.15352delT, c.787delT, r.787delu, p.Leu263fsX23
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15352
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1125
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 263
Feature           /change: L -> CLRTSGRGAT PSRATVAPRS LTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#F264X286(1); standard; MUTATION; PK
Accession       K01067
Systematic name g.15355delT, c.790delT, r.790delu, p.Phe264fsX22
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [8]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15355
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1128
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 264
Feature           /change: F -> LRTSGRGATP SRATVAPRSL TCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
//
ID              STK11_#I303X335(1); standard; MUTATION; PK
Accession       K01068
Systematic name g.16080delA, c.907delA, r.907dela, p.Ile303fsX32
Description     A frame shift deletion mutation in the exon 7 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [9]
RefCrossRef     PUBMED; 15863673
RefAuthors      Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, 
RefAuthors      T., Moslein, G., Royer-Pokora, B.
RefTitle        STK11 genotyping and cancer risk in Peutz-Jeghers 
RefTitle        syndrome.
RefLoc          J Med Genet 42:428-35
RefNumber       [17]
RefCrossRef     PUBMED; 19908348
RefAuthors      Ausavarat, S., Leoyklang, P., Vejchapipat, P., 
RefAuthors      Chongsrisawat, V., Suphapeetiporn, K., Shotelersuk, V.
RefTitle        Novel mutations in the STK11 gene in Thai patients with 
RefTitle        Peutz-Jeghers syndrome.
RefLoc          World J Gastroenterol 15:5364-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 16080
Feature           /change: -a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1245
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 303
Feature           /change: I -> SGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 7; Homozygotes: 0
//
ID              FLT4_G933R(1); standard; MUTATION; PK
Accession       K01069
Systematic name g.31472G>C, c.2797G>C, r.2797g>c, p.Gly933Arg
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED;     16924388
RefAuthors      Spiegel, R., Ghalamkarpour, A., Daniel-Spiegel, E., 
RefAuthors      Vikkula, M., Shalev, S. A.
RefTitle        Wide clinical spectrum in a family with hereditary 
RefTitle        lymphedema type I due to a novel missense mutation in 
RefTitle        VEGFR3.
RefLoc          J Hum Genet 51:846-50
RefNumber       [1]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
RefNumber       [4]
RefCrossRef     PUBMED; 18719607
RefAuthors      Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., 
RefAuthors      Veraart, J. C., Bladergroen, R. S., Heckman, C. A., 
RefAuthors      Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., 
RefAuthors      Steijlen, P. M.
RefTitle        Functional analysis of FLT4 mutations associated with 
RefTitle        Nonne-Milroy lymphedema.
RefLoc          J Invest Dermatol 129:509-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 31472
Feature           /change: g -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2818
Feature           /codon: ggc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 933
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 3; Patients: 4; Homozygotes: 0
//
ID              FLT4_D1049N(1); standard; MUTATION; PK
Accession       K01070
Systematic name g.34105G>A, c.3145G>A, r.3145g>a, p.Asp1049Asn
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 18719607
RefAuthors      Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., 
RefAuthors      Veraart, J. C., Bladergroen, R. S., Heckman, C. A., 
RefAuthors      Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., 
RefAuthors      Steijlen, P. M.
RefTitle        Functional analysis of FLT4 mutations associated with 
RefTitle        Nonne-Milroy lymphedema.
RefLoc          J Invest Dermatol 129:509-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34105
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3166
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1049
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              FLT4_D1037H(1); standard; MUTATION; PK
Accession       K01071
Systematic name g.34069G>C, c.3109G>C, r.3109g>c, p.Asp1037His
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 18719607
RefAuthors      Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., 
RefAuthors      Veraart, J. C., Bladergroen, R. S., Heckman, C. A., 
RefAuthors      Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., 
RefAuthors      Steijlen, P. M.
RefTitle        Functional analysis of FLT4 mutations associated with 
RefTitle        Nonne-Milroy lymphedema.
RefLoc          J Invest Dermatol 129:509-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34069
Feature           /change: g -> c
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3130
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1037
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              FLT4_P1137L(1); standard; MUTATION; PK
Accession       K01072
Systematic name g.37514C>T, c.3410C>T, r.3410c>u, p.Pro1137Leu
Description     A point mutation in the exon 25 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 18719607
RefAuthors      Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., 
RefAuthors      Veraart, J. C., Bladergroen, R. S., Heckman, C. A., 
RefAuthors      Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., 
RefAuthors      Steijlen, P. M.
RefTitle        Functional analysis of FLT4 mutations associated with 
RefTitle        Nonne-Milroy lymphedema.
RefLoc          J Invest Dermatol 129:509-12
RefNumber       [4]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 37514
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 25
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3431
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1137
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              FLT4_#F1108-1(1); standard; MUTATION; PK
Accession       K01073
Systematic name g.36470delT, c.3323delT, r.3323delu, p.Phe1108fsX20
Description     A frame shift deletion mutation in the exon 24 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 18719607
RefAuthors      Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., 
RefAuthors      Veraart, J. C., Bladergroen, R. S., Heckman, C. A., 
RefAuthors      Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., 
RefAuthors      Steijlen, P. M.
RefTitle        Functional analysis of FLT4 mutations associated with 
RefTitle        Nonne-Milroy lymphedema.
RefLoc          J Invest Dermatol 129:509-12
RefNumber       [4]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: FLT4_DNA: 36470
Feature           /change: -t
Feature           /genomic_region: exon; 24
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3344
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1108
Feature           /change: F -> SLWGPPRTLG CRSMRSSASA X
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT4_G854S(1); standard; MUTATION; PK
Accession       K01074
Systematic name g.30794G>A, c.2560G>A, r.2560g>a, p.Gly854Ser
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [3]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 30794
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2581
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 854
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FLT4_A915P(1); standard; MUTATION; PK
Accession       K01075
Systematic name g.31275G>C, c.2743G>C, r.2743g>c, p.Ala915Pro
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 31275
Feature           /change: g -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2764
Feature           /codon: gcg -> ccg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 915
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT4_C916W(1); standard; MUTATION; PK
Accession       K01076
Systematic name g.31280C>G, c.2748C>G, r.2748c>g, p.Cys916Trp
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 31280
Feature           /change: c -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2769
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 916
Feature           /change: C -> W
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT4_R1041W(1); standard; MUTATION; PK
Accession       K01077
Systematic name g.34081C>T, c.3121C>T, r.3121c>u, p.Arg1041Trp
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34081
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3142
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1041
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT4_R1041Q(1); standard; MUTATION; PK
Accession       K01078
Systematic name g.34082G>A, c.3122G>A, r.3122g>a, p.Arg1041Gln
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 12960217
RefAuthors      Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, 
RefAuthors      C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H.
RefTitle        Identification of eight novel VEGFR-3 mutations in 
RefTitle        families with primary congenital lymphoedema.
RefLoc          J Med Genet 40:697-703
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT4_DNA: 34082
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3143
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: VGR3_HUMAN: 1041
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Hereditary lymphedema
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_A205T(1); standard; MUTATION; PK
Accession       K01079
Systematic name g.14683G>A, c.613G>A, r.613g>a, p.Ala205Thr
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16407837
RefAuthors      Qiu, W., Schonleben, F., Thaker, H. M., Goggins, M., Su, 
RefAuthors      G. H.
RefTitle        A novel mutation of STK11/LKB1 gene leads to the loss of 
RefTitle        cell growth inhibition in head and neck squamous cell 
RefTitle        carcinoma.
RefLoc          Oncogene 25:2937-42
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14683
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 951
Feature           /codon: gcg -> acg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 205
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y60X(2); standard; MUTATION; PK
Accession       K01080
Systematic name g.1180C>A, c.180C>A, r.180c>a, p.Tyr60X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
RefNumber       [3]
RefCrossRef     PUBMED; 17026623
RefAuthors      Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., 
RefAuthors      Spigelman, A. D., Scott, R. J.
RefTitle        An updated mutation spectrum in an Australian series of 
RefTitle        PJS patients provides further evidence for only one gene 
RefTitle        locus.
RefLoc          Clin Genet 70:409-14
RefNumber       [11]
RefCrossRef     PUBMED; 21118512
RefAuthors      Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen-
RefAuthors      Dale, A. L., Olah, E.
RefTitle        High prevalence of germline STK11 mutations in Hungarian 
RefTitle        Peutz-Jeghers Syndrome patients.
RefLoc          BMC Med Genet 11:169
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1180
Feature           /change: c -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 518
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 60
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              STK11_#M51X63(1); standard; MUTATION; PK
Accession       K01081
Systematic name g.1153delG, c.153delG, r.153delg, p.Asp53fsX10
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1153
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 491
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 51
Feature           /change: M -> MGTCWGKALT ARX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_K81X(1); standard; MUTATION; PK
Accession       K01082
Systematic name g.1241A>T, c.241A>T, r.241a>u, p.Lys81X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
RefNumber       [4]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1241
Feature           /change: a -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 579
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 81
Feature           /change: K -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change(c.241A>T and
Comment         -!-p.K81X) differs from the reference article(c.250A>T and
Comment         -!-p.K84X).
//
ID              STK11_#Q112X128(1); standard; MUTATION; PK
Accession       K01083
Systematic name g.12549delG, c.336delG, r.336delg, p.Gln112fsX16
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 12549
Feature           /change: -g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 674
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 112
Feature           /change: Q -> HWWMCYTTKR SRKCIWX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#Q123X128(1); standard; MUTATION; PK
Accession       K01084
Systematic name g.12581delA, c.368delA, r.368dela, p.Gln123fsX5
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 12581
Feature           /change: -a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 706
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 123
Feature           /change: Q -> RKCIWX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#S142X160(1); standard; MUTATION; PK
Accession       K01085
Systematic name g.13462delC, c.426delC, r.426delc, p.Ser142fsX18
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 13462
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 764
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 142
Feature           /change: S -> RCRRSVSQCA RPTGTSVSX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@W239X(1); standard; MUTATION; PK
Accession       K01086
Systematic name g.14786_14787insA, c.716_717insA, r.716_717insa, p.Trp239X
Description     An insertion mutation in the exon 5 leading to a premature
Description     stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: STK11_DNA: 14787
Feature           /change: +a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1055
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 239
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@Y272X(1); standard; MUTATION; PK
Accession       K01087
Systematic name g.15380dupA, c.815dupA, r.815dupa, p.Tyr272X
Description     A duplication mutation in the exon 6 leading to a premature
Description     stop codon in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 15381
Feature           /change: +a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1154
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 272
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_G242E(1); standard; MUTATION; PK
Accession       K01088
Systematic name g.14795G>A, c.725G>A, r.725g>a, p.Gly242Glu
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            13-Jul-2011 (Rel. 3, Created)
Date            13-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16582077
RefAuthors      Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. 
RefAuthors      G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, 
RefAuthors      P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, 
RefAuthors      R. S.
RefTitle        Exonic STK11 deletions are not a rare cause of Peutz-
RefTitle        Jeghers syndrome.
RefLoc          J Med Genet 43:e15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14795
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1063
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 242
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_L282P(1); standard; MUTATION; PK
Accession       K01089
Systematic name g.15410T>C, c.845T>C, r.845u>c, p.Leu282Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 17026623
RefAuthors      Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., 
RefAuthors      Spigelman, A. D., Scott, R. J.
RefTitle        An updated mutation spectrum in an Australian series of 
RefTitle        PJS patients provides further evidence for only one gene 
RefTitle        locus.
RefLoc          Clin Genet 70:409-14
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15410
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1183
Feature           /codon: ctc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 282
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change(c.845T>C and
Comment         -!-p.L282P) differs from the article(c.852T>C and p.L284P)
//
ID              STK11_V150G(1); standard; MUTATION; PK
Accession       K01090
Systematic name g.13485T>G, c.449T>G, r.449u>g, p.Val150Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 13485
Feature           /change: t -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 787
Feature           /codon: gtg -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 150
Feature           /change: V -> G
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The amino acid change(p.V150G) differs from the reference
Comment         -!-article(p.V150L).
//
ID              STK11_H174R(1); standard; MUTATION; PK
Accession       K01091
Systematic name g.14516A>G, c.521A>G, r.521a>g, p.His174Arg
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14516
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 859
Feature           /codon: cac -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 174
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Q112X(1); standard; MUTATION; PK
Accession       K01092
Systematic name g.12547C>T, c.334C>T, r.334c>u, p.Gln112X
Description     A point mutation in the exon 2 leading to a premature stop
Description     codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 12547
Feature           /change: c -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 672
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 112
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#K175-2(1); standard; MUTATION; PK
Accession       K01093
Systematic name g.14518delA, c.523delA, r.523dela, p.Lys175fsX111
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14518
Feature           /change: -a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 861
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 175
Feature           /change: K -> 
Feature           /change: RTSSRGTCCS PPVAPSKSPT WAWPRHCTRS RRTTPAGPAR
Feature           /change: APRLSSRPRL PTAWTPSPAS RWTSGRLGSP STTSPRVCTP
Feature           /change: SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@P217X265(1); standard; MUTATION; PK
Accession       K01094
Systematic name g.14720dupC, c.650dupC, r.650dupc, p.Ala218fsX47
Description     A frame shift duplication mutation in the exon 5 leading to
Description     a premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 17404884
RefAuthors      Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., 
RefAuthors      Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., 
RefAuthors      Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., 
RefAuthors      Burt, R. W., Picard, D.
RefTitle        Molecular and clinical characteristics in 46 families 
RefTitle        affected with Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 52:1924-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 14721
Feature           /change: +c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 989
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 217
Feature           /change: P -> 
Feature           /change: PGFPAARDCQ RPGHLLRLQG GHLVGWGHPL QHHHGSVPLR
Feature           /change: RGQHLQVVX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_G187S(1); standard; MUTATION; PK
Accession       K01095
Systematic name g.14554G>A, c.559G>A, r.559g>a, p.Gly187Ser
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 20082862
RefAuthors      Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., 
RefAuthors      Kim, C. H., Jung, T. H., Park, J. Y.
RefTitle        LKB1 mutations are extremely rare in Korean non-small cell 
RefTitle        lung cancers.
RefLoc          Cancer Genet Cytogenet 196:204-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14554
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 897
Feature           /codon: ggt -> agt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 187
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@E57X162(1); standard; MUTATION; PK
Accession       K01096
Systematic name g.1169dupG, c.169dupG, r.169dupg, p.Glu57fsX105
Description     A frame shift duplication mutation in the exon 1 leading to
Description     a premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 20435009
RefAuthors      De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De 
RefAuthors      Palma, G., Rossi, G. B., Staiano, A., Izzo, P.
RefTitle        Alu-mediated genomic deletion of the serine/threonine 
RefTitle        protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.
RefLoc          Gastroenterology 138:2558-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 1170
Feature           /change: +g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 508
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 57
Feature           /change: E -> 
Feature           /change: GRLLRQGEGG AGLGDAVQEG RQDPQEEEVA KDPQRGGQRE
Feature           /change: EGNSTTEEVT AQKCHPAGGC VIQRREAENV YGDGVLRVWH
Feature           /change: AGNAGQRAGE AFPSVPGPRV LLSADX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#L286-1(1); standard; MUTATION; PK
Accession       K01097
Systematic name g.15421delC, c.856delC, r.856delc, p.Leu286X
Description     A deletion mutation in the exon 6 leading to a premature
Description     stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 20435009
RefAuthors      De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De 
RefAuthors      Palma, G., Rossi, G. B., Staiano, A., Izzo, P.
RefTitle        Alu-mediated genomic deletion of the serine/threonine 
RefTitle        protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.
RefLoc          Gastroenterology 138:2558-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15421
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1194
Feature           /codon: ctg -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 286
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#T249-1(1); standard; MUTATION; PK
Accession       K01098
Systematic name g.15312delC, c.747delC, r.747delc, p.Thr250fsX36
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 20435009
RefAuthors      De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De 
RefAuthors      Palma, G., Rossi, G. B., Staiano, A., Izzo, P.
RefTitle        Alu-mediated genomic deletion of the serine/threonine 
RefTitle        protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.
RefLoc          Gastroenterology 138:2558-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15312
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1085
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 249
Feature           /change: T -> TRVCTPSKGT TSTSCLRTSG RGATPSRATV APRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_W239G(1); standard; MUTATION; PK
Accession       K01099
Systematic name g.14785T>G, c.715T>G, r.715u>g, p.Trp239Gly
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 20497868
RefAuthors      Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C.
RefTitle        Clinical and genetic analysis of Peutz-Jeghers syndrome 
RefTitle        patients in Taiwan.
RefLoc          J Formos Med Assoc 109:354-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14785
Feature           /change: t -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1053
Feature           /codon: tgg -> ggg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 239
Feature           /change: W -> G
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_P179L(1); standard; MUTATION; PK
Accession       K01100
Systematic name g.14531C>T, c.536C>T, r.536c>u, p.Pro179Leu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 20559149
RefAuthors      Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., 
RefAuthors      Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H.
RefTitle        Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung 
RefTitle        adenocarcinomas.
RefLoc          J Thorac Oncol 5:1130-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14531
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 874
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 179
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_L50X(1); standard; MUTATION; PK
Accession       K01101
Systematic name g.1148delC, c.148delC, r.148delc, p.Leu50X
Description     A deletion mutation in the exon 1 leading to a premature
Description     stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 20559149
RefAuthors      Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., 
RefAuthors      Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H.
RefTitle        Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung 
RefTitle        adenocarcinomas.
RefLoc          J Thorac Oncol 5:1130-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1148
Feature           /change: -c
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 486
Feature           /codon: ctg -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 50
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#I267X286(1); standard; MUTATION; PK
Accession       K01102
Systematic name g.15366delC, c.801delC, r.801delc, p.Ile267fsX19
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 21118512
RefAuthors      Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen-
RefAuthors      Dale, A. L., Olah, E.
RefTitle        High prevalence of germline STK11 mutations in Hungarian 
RefTitle        Peutz-Jeghers Syndrome patients.
RefLoc          BMC Med Genet 11:169
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 15366
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1139
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 267
Feature           /change: I -> MGRGATPSRA TVAPRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_Y292X(1); standard; MUTATION; PK
Accession       K01103
Systematic name g.16049C>G, c.876C>G, r.876c>g, p.Tyr292X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 21118512
RefAuthors      Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen-
RefAuthors      Dale, A. L., Olah, E.
RefTitle        High prevalence of germline STK11 mutations in Hungarian 
RefTitle        Peutz-Jeghers Syndrome patients.
RefLoc          BMC Med Genet 11:169
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 16049
Feature           /change: c -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1214
Feature           /codon: tac -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 292
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#L184X286(1); standard; MUTATION; PK
Accession       K01104
Systematic name g.14545delC, c.550delC, r.550delc, p.Leu184fsX102
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 21118512
RefAuthors      Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen-
RefAuthors      Dale, A. L., Olah, E.
RefTitle        High prevalence of germline STK11 mutations in Hungarian 
RefTitle        Peutz-Jeghers Syndrome patients.
RefLoc          BMC Med Genet 11:169
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14545
Feature           /change: -c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 888
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 184
Feature           /change: L -> 
Feature           /change: SPPVAPSKSP TWAWPRHCTR SRRTTPAGPA RAPRLSSRPR
Feature           /change: LPTAWTPSPA SRWTSGRLGS PSTTSPRVCT PSKGTTSTSC
Feature           /change: LRTSGRGATP SRATVAPRSL TCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#G180X286(1); standard; MUTATION; PK
Accession       K01105
Systematic name g.14535delG, c.540delG, r.540delg, p.Asn181fsX105
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 21118512
RefAuthors      Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen-
RefAuthors      Dale, A. L., Olah, E.
RefTitle        High prevalence of germline STK11 mutations in Hungarian 
RefTitle        Peutz-Jeghers Syndrome patients.
RefLoc          BMC Med Genet 11:169
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 14535
Feature           /change: -g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 878
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 180
Feature           /change: G -> 
Feature           /change: GTCCSPPVAP SKSPTWAWPR HCTRSRRTTP AGPARAPRLS
Feature           /change: SRPRLPTAWT PSPASRWTSG RLGSPSTTSP RVCTPSKGTT
Feature           /change: STSCLRTSGR GATPSRATVA PRSLTCX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_W308L(1); standard; MUTATION; PK
Accession       K01106
Systematic name g.17074G>T, c.923G>T, r.923g>u, p.Trp308Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 17711506
RefAuthors      Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., 
RefAuthors      Takahashi, T., Yatabe, Y., Mitsudomi, T.
RefTitle        LKB1 gene mutations in Japanese lung cancer patients.
RefLoc          Cancer Sci 98:1747-51
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 17074
Feature           /change: g -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1261
Feature           /codon: tgg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 308
Feature           /change: W -> L
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_S69X(1); standard; MUTATION; PK
Accession       K01107
Systematic name g.1206C>A, c.206C>A, r.206c>a, p.Ser69X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 18594528
RefAuthors      Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. 
RefAuthors      O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, 
RefAuthors      B. Y., Meyerson, M., Wong, K. K., Richards, W. G., 
RefAuthors      Sugarbaker, D. J., Johnson, B. E., Janne, P. A.
RefTitle        Mutations in the LKB1 tumour suppressor are frequently 
RefTitle        detected in tumours from Caucasian but not Asian lung 
RefTitle        cancer patients.
RefLoc          Br J Cancer 99:245-52
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1206
Feature           /change: c -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 544
Feature           /codon: tcg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 69
Feature           /change: S -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//

ID              STK11_Q159X(1); standard; MUTATION; PK
Accession       K01108
Systematic name g.14470C>T, c.475C>T, r.475c>u, p.Gln159X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 18594528
RefAuthors      Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. 
RefAuthors      O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, 
RefAuthors      B. Y., Meyerson, M., Wong, K. K., Richards, W. G., 
RefAuthors      Sugarbaker, D. J., Johnson, B. E., Janne, P. A.
RefTitle        Mutations in the LKB1 tumour suppressor are frequently 
RefTitle        detected in tumours from Caucasian but not Asian lung 
RefTitle        cancer patients.
RefLoc          Br J Cancer 99:245-52
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14470
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 813
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 159
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_D277Y(1); standard; MUTATION; PK
Accession       K01109
Systematic name g.15394G>T, c.829G>T, r.829g>u, p.Asp277Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 18594528
RefAuthors      Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. 
RefAuthors      O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, 
RefAuthors      B. Y., Meyerson, M., Wong, K. K., Richards, W. G., 
RefAuthors      Sugarbaker, D. J., Johnson, B. E., Janne, P. A.
RefTitle        Mutations in the LKB1 tumour suppressor are frequently 
RefTitle        detected in tumours from Caucasian but not Asian lung 
RefTitle        cancer patients.
RefLoc          Br J Cancer 99:245-52
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15394
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1167
Feature           /codon: gac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 277
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_D176Y(1); standard; MUTATION; PK
Accession       K01110
Systematic name g.14521G>T, c.526G>T, r.526g>u, p.Asp176Tyr
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 18594528
RefAuthors      Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. 
RefAuthors      O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, 
RefAuthors      B. Y., Meyerson, M., Wong, K. K., Richards, W. G., 
RefAuthors      Sugarbaker, D. J., Johnson, B. E., Janne, P. A.
RefTitle        Mutations in the LKB1 tumour suppressor are frequently 
RefTitle        detected in tumours from Caucasian but not Asian lung 
RefTitle        cancer patients.
RefLoc          Br J Cancer 99:245-52
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14521
Feature           /change: g -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 864
Feature           /codon: gac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 176
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_C73S(1); standard; MUTATION; PK
Accession       K01111
Systematic name g.1217T>A, c.217T>A, r.217u>a, p.Cys73Ser
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED; 19507030
RefAuthors      Gao, Y., Zhang, F. M., Huang, S., Wang, X., Zhang, P., 
RefAuthors      Huang, X. D., Ji, G. Z., Fan, Z. N.
RefTitle        A De Novo mutation of STK11 gene in a Chinese patient with 
RefTitle        Peutz-Jeghers syndrome.
RefLoc          Dig Dis Sci 55:1032-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 1217
Feature           /change: t -> a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 555
Feature           /codon: tgc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 73
Feature           /change: C -> S
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_#G61X63(1); standard; MUTATION; PK
Accession       K01112
Systematic name g.1182delG, c.182delG, r.182delg, p.Gly61fsX2
Description     A frame shift deletion mutation in the exon 1 leading to a
Description     premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [16]
RefCrossRef     PUBMED; 19908348
RefAuthors      Ausavarat, S., Leoyklang, P., Vejchapipat, P., 
RefAuthors      Chongsrisawat, V., Suphapeetiporn, K., Shotelersuk, V.
RefTitle        Novel mutations in the STK11 gene in Thai patients with 
RefTitle        Peutz-Jeghers syndrome.
RefLoc          World J Gastroenterol 15:5364-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: STK11_DNA: 1182
Feature           /change: -g
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 520
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 61
Feature           /change: G -> ARX
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ERBB2_@G776+1(1); standard; MUTATION; PK
Accession       K01113
Systematic name g.25506_25507insT, c.2326_2327insT, r.2326_2327insu,
Systematic name p.Gly776fsX97
Description     A frame shift insertion mutation in the exon 20 leading to
Description     a premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            15-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [17]
RefCrossRef     PUBMED; 20881644
RefAuthors      Lee, S. Y., Kim, M. J., Jin, G., Yoo, S. S., Park, J. Y., 
RefAuthors      Choi, J. E., Jeon, H. S., Cho, S., Lee, E. B., Cha, S. I., 
RefAuthors      Park, T. I., Kim, C. H., Jung, T. H., Park, J. Y.
RefTitle        Somatic mutations in epidermal growth factor receptor 
RefTitle        signaling pathway genes in non-small cell lung cancers.
RefLoc          J Thorac Oncol 5:1734-40
RefNumber       [2]
RefCrossRef     PUBMED; 17321325
RefAuthors      Bae, N. C., Chae, M. H., Lee, M. H., Kim, K. M., Lee, E. 
RefAuthors      B., Kim, C. H., Park, T. I., Han, S. B., Jheon, S., Jung, 
RefAuthors      T. H., Park, J. Y.
RefTitle        EGFR, ERBB2, and KRAS mutations in Korean non-small cell 
RefTitle        lung cancer patients.
RefLoc          Cancer Genet Cytogenet 173:107-13
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: ERBB2_DNA: 25507
Feature           /change: +t
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2501
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 776
Feature           /change: G -> 
Feature           /change: VCGLPICLPP SGHLPDIHGA AGDTAYALWL PLRPCPGKPR
Feature           /change: TPGLPGPAEL VYADCQGDEL PGGCAARTQG LGRSERAGQE
Feature           /change: SQPCQNYRLR AGSAAGHX
Feature           /domain: PK
Diagnosis       
Diagnosis       v-erb-b2 avian erythroblastic leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Non small cell Lung Cancer
//
ID              ERBB2_@A775+4(1); standard; MUTATION; PK
Accession       K01114
Systematic name g.25503dupG, c.2323dupG, r.2323dupg, p.Ala775fsX98
Description     A frame shift duplication mutation in the exon 20 leading
Description     to a premature stop codon in the PK domain
Date            14-Jul-2011 (Rel. 3, Created)
Date            14-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [17]
RefCrossRef     PUBMED; 20881644
RefAuthors      Lee, S. Y., Kim, M. J., Jin, G., Yoo, S. S., Park, J. Y., 
RefAuthors      Choi, J. E., Jeon, H. S., Cho, S., Lee, E. B., Cha, S. I., 
RefAuthors      Park, T. I., Kim, C. H., Jung, T. H., Park, J. Y.
RefTitle        Somatic mutations in epidermal growth factor receptor 
RefTitle        signaling pathway genes in non-small cell lung cancers.
RefLoc          J Thorac Oncol 5:1734-40
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: ERBB2_DNA: 25504
Feature           /change: +g
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2498
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 775
Feature           /change: A -> 
Feature           /change: GWCGLPICLP PSGHLPDIHG AAGDTAYALW LPLRPCPGKP
Feature           /change: RTPGLPGPAE LVYADCQGDE LPGGCAARTQ GLGRSERAGQ
Feature           /change: ESQPCQNYRL RAGSAAGHX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Non small cell Lung Cancer
//
ID              ERBB2_H878Y(1); standard; MUTATION; PK
Accession       K01115
Systematic name g.25949C>T, c.2632C>T, r.2632c>u, p.His878Tyr
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            15-Jul-2011 (Rel. 3, Created)
Date            15-Jul-2011 (Rel. 3, Last updated, Version 1)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25949
Feature           /change: c -> t
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2806
Feature           /codon: cat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 878
Feature           /change: H -> Y
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Disease: Hepatocellular carcinoma
//
ID              STK11_D176H(1); standard; MUTATION; PK
Accession       K01116
Systematic name g.14521G>C, c.526G>C, r.526g>c, p.Asp176His
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14521
Feature           /change: g -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 864
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 176
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_E265X(1); standard; MUTATION; PK
Accession       K01117
Systematic name g.15358G>T, c.793G>T, r.793g>u, p.Glu265X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 15358
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 1131
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 265
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              STK11_L164P(1); standard; MUTATION; PK
Accession       K01118
Systematic name g.14486T>C, c.491T>C, r.491u>c, p.Leu164Pro
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: STK11_DNA: 14486
Feature           /change: t -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 829
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: STKB_HUMAN: 164
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              STK11_@Y60X(2); standard; MUTATION; PK
Accession       K01119
Systematic name g.1179dupA, c.179dupA, r.179dupa, p.Tyr60X
Description     A duplication mutation in the exon 1 leading to a premature
Description     stop codon in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 19727776
RefAuthors      Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., 
RefAuthors      Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., 
RefAuthors      Aretz, S., Stemmler, S., Schmiegel, W.
RefTitle        Truncating mutations in Peutz-Jeghers syndrome are 
RefTitle        associated with more polyps, surgical interventions and 
RefTitle        cancers.
RefLoc          Int J Colorectal Dis 25:97-107
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: IDRefSeq: STK11_DNA: 1180
Feature           /change: +a
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: AF035625; GI:3024670; AF035625: 518
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: STKB_HUMAN: 60
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Peutz-Jeghers syndrome (PJS)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              KIT_V654A(1); standard; MUTATION; PK
Accession       K01120
Systematic name g.71077T>C, c.1961T>C, r.1961u>c, p.Val654Ala
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [5]
RefCrossRef     PUBMED; 15705916
RefAuthors      Tamborini, E., Gabanti, E., Lagonigro, M. S., Negri, T., 
RefAuthors      Pilotti, S., Pierotti, M. A., Pricl, S.
RefTitle        KIT/Val654 Ala receptor detected in one imatinib-resistant 
RefTitle        GIST patient.
RefLoc          Cancer Res 65:1115; author reply 1115
RefNumber       [13]
RefCrossRef     PUBMED; 17632543
RefAuthors      Lasota, J., vel Dobosz, A. J., Wasag, B., Wozniak, A., 
RefAuthors      Kraszewska, E., Michej, W., Ptaszynski, K., Rutkowski, P., 
RefAuthors      Sarlomo-Rikala, M., Steigen, S. E., Schneider-Stock, R., 
RefAuthors      Stachura, J., Chosia, M., Ogun, G., Ruka, W., Siedlecki, 
RefAuthors      J. A., Miettinen, M.
RefTitle        Presence of homozygous KIT exon 11 mutations is strongly 
RefTitle        associated with malignant clinical behavior in 
RefTitle        gastrointestinal stromal tumors.
RefLoc          Lab Invest 87:1029-41
RefNumber       [17]
RefCrossRef     PUBMED; 18488000
RefAuthors      Chen, L. L., Holden, J. A., Choi, H., Zhu, J., Wu, E. F., 
RefAuthors      Jones, K. A., Ward, J. H., Andtbacka, R. H., Randall, R. 
RefAuthors      L., Scaife, C. L., Hunt, K. K., Prieto, V. G., Raymond, A. 
RefAuthors      K., Zhang, W., Trent, J. C., Benjamin, R. S., Frazier, M. 
RefAuthors      L.
RefTitle        Evolution from heterozygous to homozygous KIT mutation in 
RefTitle        gastrointestinal stromal tumor correlates with the 
RefTitle        mechanism of mitotic nondisjunction and significant tumor 
RefTitle        progression.
RefLoc          Mod Pathol 21:826-36
RefNumber       [19]
RefCrossRef     PUBMED; 19096980
RefAuthors      Zheng, S., Pan, Y. L., Tao, D. Y., Wang, J. L., Huang, K. 
RefAuthors      E.
RefTitle        Secondary C-kit mutation is a cause of acquired resistance 
RefTitle        to imatinib in gastrointestinal stromal tumor.
RefLoc          Scand J Gastroenterol 44:760-3
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71077
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1982
Feature           /codon: gtg -> gcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 654
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Gastrointestinal stromal tumor (GIST)
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 8; Patients: 8; Homozygotes: 0
Comment         -!-The nucleotide change(1961T>C) differ from the
Comment         -!-reference(1982T>C)
//
ID              KIT_V620A(1); standard; MUTATION; PK
Accession       K01121
Systematic name g.70892T>C, c.1859T>C, r.1859u>c, p.Val620Ala
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 16456533
RefAuthors      Tosaki, H., Kunisada, T., Motohashi, T., Aoki, H., 
RefAuthors      Yoshida, H., Kitajima, Y.
RefTitle        Mice transgenic for Kit(V620A): recapitulation of 
RefTitle        piebaldism but not progressive depigmentation seen in 
RefTitle        humans with this mutation.
RefLoc          J Invest Dermatol 126:1111-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70892
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1880
Feature           /codon: gtc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 620
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              KIT_A621D(1); standard; MUTATION; PK
Accession       K01122
Systematic name g.70895C>A, c.1862C>A, r.1862c>a, p.Ala621Asp
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 17107413
RefAuthors      Lin, Z. M., Xu, Z., Bu, D. F., Yang, Y.
RefTitle        New mutations of KIT gene in two Chinese patients with 
RefTitle        piebaldism.
RefLoc          Br J Dermatol 155:1303-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70895
Feature           /change: c -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1883
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 621
Feature           /change: A -> D
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_L595P(1); standard; MUTATION; PK
Accession       K01123
Systematic name g.70817T>C, c.1784T>C, r.1784u>c, p.Leu595Pro
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 17107413
RefAuthors      Lin, Z. M., Xu, Z., Bu, D. F., Yang, Y.
RefTitle        New mutations of KIT gene in two Chinese patients with 
RefTitle        piebaldism.
RefLoc          Br J Dermatol 155:1303-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70817
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1805
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 595
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_N822K(2); standard; MUTATION; PK
Accession       K01124
Systematic name g.76159T>G, c.2466T>G, r.2466u>g, p.Asn822Lys
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 17566038
RefAuthors      Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, 
RefAuthors      G., Frilling, A., Schmid, K. W.
RefTitle        Double resistance to imatinib and AMG 706 caused by 
RefTitle        multiple acquired KIT exon 17 mutations in a 
RefTitle        gastrointestinal stromal tumour.
RefLoc          Gut 56:1025-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76159
Feature           /change: t -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2487
Feature           /codon: aat -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 822
Feature           /change: N -> K
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_K818R(1); standard; MUTATION; PK
Accession       K01125
Systematic name g.76146A>G, c.2453A>G, r.2453a>g, p.Lys818Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 17566038
RefAuthors      Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, 
RefAuthors      G., Frilling, A., Schmid, K. W.
RefTitle        Double resistance to imatinib and AMG 706 caused by 
RefTitle        multiple acquired KIT exon 17 mutations in a 
RefTitle        gastrointestinal stromal tumour.
RefLoc          Gut 56:1025-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76146
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2474
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 818
Feature           /change: K -> R
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_Y823N(1); standard; MUTATION; PK
Accession       K01126
Systematic name g.76160T>A, c.2467T>A, r.2467u>a, p.Tyr823Asn
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 17566038
RefAuthors      Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, 
RefAuthors      G., Frilling, A., Schmid, K. W.
RefTitle        Double resistance to imatinib and AMG 706 caused by 
RefTitle        multiple acquired KIT exon 17 mutations in a 
RefTitle        gastrointestinal stromal tumour.
RefLoc          Gut 56:1025-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76160
Feature           /change: t -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2488
Feature           /codon: tat -> aat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 823
Feature           /change: Y -> N
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_I798I(1); standard; MUTATION; PK
Accession       K01128
Systematic name g.76087C>T, c.2394C>T, r.2394c>u, p.Ile798Ile
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [13]
RefCrossRef     PUBMED; 18084259
RefAuthors      Kartha, R. V., Sundram, U. N.
RefTitle        Silent mutations in KIT and PDGFRA and coexpression of 
RefTitle        receptors with SCF and PDGFA in Merkel cell carcinoma: 
RefTitle        implications for tyrosine kinase-based tumorigenesis.
RefLoc          Mod Pathol 21:96-104
RefNumber       [20]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76087
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2415
Feature           /codon: atc -> att; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 798
Feature           /change: I -> I
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Silent Mutation Diseases: Primary adenoid cystic carcinoma
Comment         -!-of the salivary gland
//
ID              KIT_P832L(1); standard; MUTATION; PK
Accession       K01129
Systematic name g.79493C>T, c.2495C>T, r.2495c>u, p.Pro832Leu
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [17]
RefCrossRef     PUBMED; 19416250
RefAuthors      Oiso, N., Kishida, K., Fukai, K., Motokawa, T., Hosomi, 
RefAuthors      N., Suzuki, T., Mitsuhashi, Y., Tsuboi, R., Kawada, A.
RefTitle        A Japanese piebald patient with auburn hair colour 
RefTitle        associated with a novel mutation p.P832L in the KIT gene 
RefTitle        and a homozygous variant p.I120T in the MC1R gene.
RefLoc          Br J Dermatol 161:468-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 79493
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2516
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 832
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_L813L(1); standard; MUTATION; PK
Accession       K01130
Systematic name g.76130C>T, c.2437C>T, r.2437c>u, p.Leu813Leu
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [18]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76130
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2458
Feature           /codon: cta -> tta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 813
Feature           /change: L -> L
Feature           /domain: PK
Diagnosis       Piepaldism
Diagnosis       
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Silent Mutation
Comment         -!-Diseases: Primary adenoid cystic carcinoma of the salivary
Comment         -!-gland
//
ID              KIT_F591L(1); standard; MUTATION; PK
Accession       K01131
Systematic name g.70524T>C, c.1771T>C, r.1771u>c, p.Phe591Leu
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70524
Feature           /change: t -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1792
Feature           /codon: ttt -> ctt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 591
Feature           /change: F -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Primary adenoid cystic carcinoma of the salivary
Comment         -!-gland
//
ID              KIT_L813P(1); standard; MUTATION; PK
Accession       K01132
Systematic name g.76131T>C, c.2438T>C, r.2438u>c, p.Leu813Pro
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76131
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2459
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 813
Feature           /change: L -> P
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Primary adenoid cystic carcinoma of the salivary
Comment         -!-gland
//
ID              KIT_G803G(1); standard; MUTATION; PK
Accession       K01133
Systematic name g.76102T>C, c.2409T>C, r.2409u>c, p.Gly803Gly
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76102
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2430
Feature           /codon: ggt -> ggc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 803
Feature           /change: G -> G
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Silent Mutation Diseases: Primary adenoid cystic carcinoma
Comment         -!-of the salivary gland
//
ID              KIT_S639P(1); standard; MUTATION; PK
Accession       K01134
Systematic name g.71031T>C, c.1915T>C, r.1915u>c, p.Ser639Pro
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71031
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1936
Feature           /codon: tct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 639
Feature           /change: S -> P
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Primary adenoid cystic carcinoma of the salivary
Comment         -!-gland
//
ID              KIT_V643A(1); standard; MUTATION; PK
Accession       K01135
Systematic name g.71044T>C, c.1928T>C, r.1928u>c, p.Val643Ala
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 71044
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1949
Feature           /codon: gtc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 643
Feature           /change: V -> A
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Primary adenoid cystic carcinoma of the salivary
Comment         -!-gland
//
ID              KIT_N822S(1); standard; MUTATION; PK
Accession       K01136
Systematic name g.76158A>G, c.2465A>G, r.2465a>g, p.Asn822Ser
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76158
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2486
Feature           /codon: aat -> agt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 822
Feature           /change: N -> S
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Primary adenoid cystic carcinoma of the salivary
Comment         -!-gland
//
ID              KIT_N822Y(1); standard; MUTATION; PK
Accession       K01137
Systematic name g.76157A>T, c.2464A>T, r.2464a>u, p.Asn822Tyr
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [19]
RefCrossRef     PUBMED; 19617878
RefAuthors      Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. 
RefAuthors      J., Liu, C.
RefTitle        Identification of c-kit gene mutations in primary adenoid 
RefTitle        cystic carcinoma of the salivary gland.
RefLoc          Mod Pathol 22:1296-302
RefNumber       [21]
RefCrossRef     PUBMED; 20001354
RefAuthors      Terada, T.
RefTitle        Mediastinal seminoma with multiple KIT gene mutations.
RefLoc          Pathology 41:695-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76157
Feature           /change: a -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2485
Feature           /codon: aat -> tat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 822
Feature           /change: N -> Y
Feature           /domain: PK
Diagnosis       Germ cell tumor
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Mediastinal seminoma
//
ID              KIT_V825A(1); standard; MUTATION; PK
Accession       K01138
Systematic name g.76167T>C, c.2474T>C, r.2474u>c, p.Val825Ala
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [22]
RefCrossRef     PUBMED; 20471335
RefAuthors      Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., 
RefAuthors      Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P.
RefTitle        High frequency of concomitant mastocytosis in patients 
RefTitle        with acute myeloid leukemia exhibiting the transforming 
RefTitle        KIT mutation D816V.
RefLoc          Mol Oncol 4:335-46
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 76167
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 2495
Feature           /codon: gtt -> gct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 825
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Childhood-onset sporadic mastocytosis
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              KIT_L611F(1); standard; MUTATION; PK
Accession       K01139
Systematic name g.70866A>C, c.1833A>C, r.1833a>c, p.Leu611Phe
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [23]
RefCrossRef     PUBMED; 20688482
RefAuthors      Chong, K. L., Common, J. E., Lane, E. B., Goh, B. K.
RefTitle        A novel mutation in the kinase domain of KIT in an Indian 
RefTitle        family with a mild piebaldism phenotype.
RefLoc          J Dermatol Sci 59:206-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: KIT_DNA: 70866
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1854
Feature           /codon: tta -> ttc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIT_HUMAN: 611
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Childhood-onset sporadic mastocytosis
Diagnosis       Piepaldism
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              KIT_#K642X644(1); standard; MUTATION; PK
Accession       K01140
Systematic name g.71042delA, c.1926delA, r.1926dela, p.Val643fsX1
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [25]
RefCrossRef     PUBMED; 15543597
RefAuthors      Vu, H. A., Xinh, P. T., Kikushima, M., Zhu, Y., Tokuhara, 
RefAuthors      M., Tani, M., Shimizu, T., Saito, K., Tokunaga, K., Sato, 
RefAuthors      Y.
RefTitle        A recurrent duodenal gastrointestinal stromal tumor with a 
RefTitle        frameshift mutation resulting in a stop codon in KIT exon 
RefTitle        13.
RefLoc          Genes Chromosomes Cancer 42:179-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: KIT_DNA: 71042
Feature           /change: -a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X06182; GI:125472; X06182: 1947
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIT_HUMAN: 642
Feature           /change: K -> KSX
Feature           /domain: PK
Diagnosis       Gastrointestinal stromal tumor (GIST)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Frameshift mutation
//
ID              ERBB2_D769H(1); standard; MUTATION; PK
Accession       K01141
Systematic name g.24770G>C, c.2305G>C, r.2305g>c, p.Asp769His
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [26]
RefCrossRef     PUBMED; 16029927
RefAuthors      Lee, J. W., Soung, Y. H., Kim, S. Y., Nam, S. W., Park, W. 
RefAuthors      S., Wang, Y. P., Jo, K. H., Moon, S. W., Song, S. Y., Lee, 
RefAuthors      J. Y., Yoo, N. J., Lee, S. H.
RefTitle        ERBB2 kinase domain mutation in the lung squamous cell 
RefTitle        carcinoma.
RefLoc          Cancer Lett 237:89-94
RefNumber       [29]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 24770
Feature           /change: g -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2479
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 769
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Diseases: Lung squamous cell carcinoma
Comment         -!-Diseases: Gastric Cancers
//
ID              ERBB2_V842I(1); standard; MUTATION; PK
Accession       K01142
Systematic name g.25841G>A, c.2524G>A, r.2524g>a, p.Val842Ile
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [27]
RefCrossRef     PUBMED; 16309427
RefAuthors      Lee, J. W., Soung, Y. H., Kim, S. Y., Park, W. S., Nam, S. 
RefAuthors      W., Kim, S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        ERBB2 kinase domain mutation in a gastric cancer 
RefTitle        metastasis.
RefLoc          APMIS 113:683-7
RefNumber       [29]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25841
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2698
Feature           /codon: gta -> ata; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 842
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Diseases: Gastric cancer metastasis                       
Comment         -!-The amino acid change should be V842I instead of V832I
Comment         -!-Diseases: Colon Cancers
//
ID              ERBB2_K724N(1); standard; MUTATION; PK
Accession       K01143
Systematic name g.24386G>T, c.2172G>T, r.2172g>u, p.Lys724Asn
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 24386
Feature           /change: g -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2346
Feature           /codon: aag -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 724
Feature           /change: K -> N
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Gastric,Colorectal and Breast carcinomas
//
ID              ERBB2_T733I(1); standard; MUTATION; PK
Accession       K01144
Systematic name g.24412C>T, c.2198C>T, r.2198c>u, p.Thr733Ile
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 24412
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2372
Feature           /codon: aca -> ata; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 733
Feature           /change: T -> I
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Gastric Cancers
//
ID              ERBB2_L755S(1); standard; MUTATION; PK
Accession       K01145
Systematic name g.24729T>C, c.2264T>C, r.2264u>c, p.Leu755Ser
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 24729
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2438
Feature           /codon: ttg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 755
Feature           /change: L -> S
Feature           /domain: PK
Diagnosis       
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
Comment         -!-Diseases: Gastric Cancers
Comment         -!-Diseases: Breast Cancers
//
ID              ERBB2_Q799P(1); standard; MUTATION; PK
Accession       K01146
Systematic name g.25576A>C, c.2396A>C, r.2396a>c, p.Gln799Pro
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25576
Feature           /change: a -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2570
Feature           /codon: cag -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 799
Feature           /change: Q -> P
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Gastric Cancers
//
ID              ERBB2_V777L(1); standard; MUTATION; PK
Accession       K01147
Systematic name g.25509G>T, c.2329G>T, r.2329g>u, p.Val777Leu
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
RefNumber       [32]
RefCrossRef     PUBMED; 16988931
RefAuthors      Buttitta, F., Barassi, F., Fresu, G., Felicioni, L., 
RefAuthors      Chella, A., Paolizzi, D., Lattanzio, G., Salvatore, S., 
RefAuthors      Camplese, P. P., Rosini, S., Iarussi, T., Mucilli, F., 
RefAuthors      Sacco, R., Mezzetti, A., Marchetti, A.
RefTitle        Mutational analysis of the HER2 gene in lung tumors from 
RefTitle        Caucasian patients: mutations are mainly present in 
RefTitle        adenocarcinomas with bronchioloalveolar features.
RefLoc          Int J Cancer 119:2586-91
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25509
Feature           /change: g -> t
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2503
Feature           /codon: gtg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 777
Feature           /change: V -> L
Feature           /domain: PK
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Diseases: Gastric Cancers
Comment         -!-Diseases: Lung adenocarcinoma
//
ID              ERBB2_V777L(2); standard; MUTATION; PK
Accession       K01148
Systematic name g.25509G>C, c.2329G>C, r.2329g>c, p.Val777Leu
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25509
Feature           /change: g -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2503
Feature           /codon: gtg -> ctg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 777
Feature           /change: V -> L
Feature           /domain: PK
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Diseases: Gastric and colon Cancers
//
ID              ERBB2_L869Q(1); standard; MUTATION; PK
Accession       K01149
Systematic name g.25923T>A, c.2606T>A, r.2606u>a, p.Leu869Gln
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25923
Feature           /change: t -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2780
Feature           /codon: ctg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 869
Feature           /change: L -> Q
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Gastric Cancers
//
ID              ERBB2_V777M(1); standard; MUTATION; PK
Accession       K01150
Systematic name g.25509G>A, c.2329G>A, r.2329g>a, p.Val777Met
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 25509
Feature           /change: g -> a
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2503
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 777
Feature           /change: V -> M
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases:Colon Cancers
//
ID              ERBB2_R896C(1); standard; MUTATION; PK
Accession       K01151
Systematic name g.26125C>T, c.2686C>T, r.2686c>u, p.Arg896Cys
Description     A point mutation in the exon 22 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [30]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ERBB2_DNA: 26125
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 22
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2860
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 896
Feature           /change: R -> C
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Breast Cancers
//
ID              ERBB2_@R896X904(1); standard; MUTATION; PK
Accession       K01152
Systematic name g.26124_26125insT, c.2685_2686insT, r.2685_2686insu,
Systematic name p.Arg896fsX8
Description     A frame shift insertion mutation in the exon 22 leading to
Description     a premature stop codon in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [30]
RefCrossRef     PUBMED; 16397024
RefAuthors      Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. 
RefAuthors      H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, 
RefAuthors      S. H., Lee, J. Y., Yoo, N. J., Lee, S. H.
RefTitle        Somatic mutations of ERBB2 kinase domain in gastric, 
RefTitle        colorectal, and breast carcinomas.
RefLoc          Clin Cancer Res 12:57-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: ERBB2_DNA: 26125
Feature           /change: +t
Feature           /CpG; 1
Feature           /genomic_region: exon; 22
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X03363; GI:119533; HSERB2R: 2860
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: ERB2_HUMAN: 896
Feature           /change: R -> SPAVHPPEX
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Breast Cancers
//
ID              FGFR3_D580N(1); standard; MUTATION; PK
Accession       K01154
Systematic name g.12947G>A, c.1738G>A, r.1738g>a, p.Asp580Asn
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [32]
RefCrossRef     PUBMED; 16912704
RefAuthors      Heuertz, S., Le Merrer, M., Zabel, B., Wright, M., Legeai-
RefAuthors      Mallet, L., Cormier-Daire, V., Gibbs, L., Bonaventure, J.
RefTitle        Novel FGFR3 mutations creating cysteine residues in the 
RefTitle        extracellular domain of the receptor cause achondroplasia 
RefTitle        or severe forms of hypochondroplasia.
RefLoc          Eur J Hum Genet 14:1240-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12947
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1777
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 580
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Polymorphism
//
ID              FGFR3_G697C(1); standard; MUTATION; PK
Accession       K01155
Systematic name g.13709G>T, c.2089G>T, r.2089g>u, p.Gly697Cys
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [34]
RefCrossRef     PUBMED; 17044022
RefAuthors      Aubertin, J., Tourpin, S., Janot, F., Ahomadegbe, J. C., 
RefAuthors      Radvanyi, F.
RefTitle        Analysis of fibroblast growth factor receptor 3 G697C 
RefTitle        mutation in oral squamous cell carcinomas.
RefLoc          Int J Cancer 120:2058-9; author reply 2060
RefNumber       [45]
RefCrossRef     PUBMED;     15880580
RefAuthors      Zhang, Y., Hiraishi, Y., Wang, H., Sumi, K. S., Hayashido, 
RefAuthors      Y., Toratani, S., Kan, M., Sato, J. D., Okamoto, T.
RefTitle        Constitutive activating mutation of the FGFR3b in oral 
RefTitle        squamous cell carcinomas.
RefLoc          Int J Cancer 117:166-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13709
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 2128
Feature           /codon: ggc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 697
Feature           /change: G -> C
Feature           /domain: PK
Diagnosis       
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Diseases : Oral squamous cell carcinomas
//
ID              FGFR3_K649E(1); standard; MUTATION; PK
Accession       K01156
Systematic name g.13264A>G, c.1945A>G, r.1945a>g, p.Lys649Glu
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [35]
RefCrossRef     PUBMED; 17392824
RefAuthors      Hafner, C., Hartmann, A., Real, F. X., Hofstaedter, F., 
RefAuthors      Landthaler, M., Vogt, T.
RefTitle        Spectrum of FGFR3 mutations in multiple intraindividual 
RefTitle        seborrheic keratoses.
RefLoc          J Invest Dermatol 127:1883-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13264
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1984
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 649
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Seborrheic Keratoses
//
ID              FGFR3_N653H(1); standard; MUTATION; PK
Accession       K01157
Systematic name g.13276A>C, c.1957A>C, r.1957a>c, p.Asn653His
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [40]
RefCrossRef     PUBMED; 19287463
RefAuthors      Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez-
RefAuthors      Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., 
RefAuthors      Cheng, L.
RefTitle        FGFR3 and TP53 mutation analysis in inverted urothelial 
RefTitle        papilloma: incidence and etiological considerations.
RefLoc          Mod Pathol 22:627-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13276
Feature           /change: a -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1996
Feature           /codon: aac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 653
Feature           /change: N -> H
Feature           /domain: PK
Diagnosis       Hypochondroplasia
Diagnosis       Urothelial cell carcinoma (UCC)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_H643D(1); standard; MUTATION; PK
Accession       K01158
Systematic name g.13246C>G, c.1927C>G, r.1927c>g, p.His643Asp
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [40]
RefCrossRef     PUBMED; 19287463
RefAuthors      Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez-
RefAuthors      Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., 
RefAuthors      Cheng, L.
RefTitle        FGFR3 and TP53 mutation analysis in inverted urothelial 
RefTitle        papilloma: incidence and etiological considerations.
RefLoc          Mod Pathol 22:627-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13246
Feature           /change: c -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1966
Feature           /codon: cac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 643
Feature           /change: H -> D
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_D641N(1); standard; MUTATION; PK
Accession       K01159
Systematic name g.13240G>A, c.1921G>A, r.1921g>a, p.Asp641Asn
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [40]
RefCrossRef     PUBMED; 19287463
RefAuthors      Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez-
RefAuthors      Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., 
RefAuthors      Cheng, L.
RefTitle        FGFR3 and TP53 mutation analysis in inverted urothelial 
RefTitle        papilloma: incidence and etiological considerations.
RefLoc          Mod Pathol 22:627-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13240
Feature           /change: g -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1960
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 641
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Diagnosis       Urothelial cell carcinoma (UCC)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              FGFR3_E627D(1); standard; MUTATION; PK
Accession       K01160
Systematic name g.13200G>T, c.1881G>T, r.1881g>u, p.Glu627Asp
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [41]
RefCrossRef     PUBMED; 19287463
RefAuthors      Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez-
RefAuthors      Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., 
RefAuthors      Cheng, L.
RefTitle        FGFR3 and TP53 mutation analysis in inverted urothelial 
RefTitle        papilloma: incidence and etiological considerations.
RefLoc          Mod Pathol 22:627-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13200
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1920
Feature           /codon: gag -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 627
Feature           /change: E -> D
Feature           /domain: PK
Diagnosis       Urothelial cell carcinoma (UCC)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FGFR3_D617G(1); standard; MUTATION; PK
Accession       K01161
Systematic name g.13169A>G, c.1850A>G, r.1850a>g, p.Asp617Gly
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [42]
RefCrossRef     PUBMED; 19327639
RefAuthors      Chou, A., Dekker, N., Jordan, R. C.
RefTitle        Identification of novel fibroblast growth factor receptor 
RefTitle        3 gene mutations in actinic cheilitis and squamous cell 
RefTitle        carcinoma of the lip.
RefLoc          Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:535-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13169
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1889
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 617
Feature           /change: D -> G
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Squamous cell carcinoma
//
ID              FGFR3_V630M(1); standard; MUTATION; PK
Accession       K01162
Systematic name g.13207G>A, c.1888G>A, r.1888g>a, p.Val630Met
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [42]
RefCrossRef     PUBMED; 19327639
RefAuthors      Chou, A., Dekker, N., Jordan, R. C.
RefTitle        Identification of novel fibroblast growth factor receptor 
RefTitle        3 gene mutations in actinic cheilitis and squamous cell 
RefTitle        carcinoma of the lip.
RefLoc          Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:535-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13207
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1927
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 630
Feature           /change: V -> M
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Actinic Cheilitis with mild dysplasia
//
ID              FGFR3_E686K(1); standard; MUTATION; PK
Accession       K01163
Systematic name g.13676G>A, c.2056G>A, r.2056g>a, p.Glu686Lys
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [42]
RefCrossRef     PUBMED; 19327639
RefAuthors      Chou, A., Dekker, N., Jordan, R. C.
RefTitle        Identification of novel fibroblast growth factor receptor 
RefTitle        3 gene mutations in actinic cheilitis and squamous cell 
RefTitle        carcinoma of the lip.
RefLoc          Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:535-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 13676
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 2095
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 686
Feature           /change: E -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Diseases: Actinic Cheilitis
//
ID              FGFR3_Q485R(1); standard; MUTATION; PK
Accession       K01164
Systematic name g.12501A>G, c.1454A>G, r.1454a>g, p.Gln485Arg
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            19-Jul-2011 (Rel. 3, Created)
Date            19-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [43]
RefCrossRef     PUBMED; 19449430
RefAuthors      Pannier, S., Martinovic, J., Heuertz, S., Delezoide, A. 
RefAuthors      L., Munnich, A., Schibler, L., Serre, V., Legeai-Mallet, 
RefAuthors      L.
RefTitle        Thanatophoric dysplasia caused by double missense FGFR3 
RefTitle        mutations.
RefLoc          Am J Med Genet A 149A:1296-301
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FGFR3_DNA: 12501
Feature           /change: a -> g
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: M58051; GI:120050; M58051: 1493
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGR3_HUMAN: 485
Feature           /change: Q -> R
Feature           /domain: PK
Diagnosis       Thanatophoric dysplasia (TD)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_K663Q(1); standard; MUTATION; PK
Accession       K01165
Systematic name g.43370A>C, c.1987A>C, r.1987a>c, p.Lys663Gln
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16990784
RefAuthors      Schittenhelm, M. M., Yee, K. W., Tyner, J. W., McGreevey, 
RefAuthors      L., Haley, A. D., Town, A., Griffith, D. J., Bainbridge, 
RefAuthors      T., Braziel, R. M., O'Farrell, A. M., Cherrington, J. M., 
RefAuthors      Heinrich, M. C.
RefTitle        FLT3 K663Q is a novel AML-associated oncogenic kinase: 
RefTitle        Determination of biochemical properties and sensitivity to 
RefTitle        Sunitinib (SU11248).
RefLoc          Leukemia 20:2008-14
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 43370
Feature           /change: a -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2044
Feature           /codon: aag -> cag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 663
Feature           /change: K -> Q
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              FLT3_Y842C(1); standard; MUTATION; PK
Accession       K01166
Systematic name g.53131A>G, c.2525A>G, r.2525a>g, p.Tyr842Cys
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20875128
RefAuthors      Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., 
RefAuthors      Buffler, P., Wiemels, J.
RefTitle        FLT3 mutation incidence and timing of origin in a 
RefTitle        population case series of pediatric leukemia.
RefLoc          BMC Cancer 10:513
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: FLT3_DNA: 53131
Feature           /change: a -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: U02687; GI:544320; HS02687: 2582
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FLT3_HUMAN: 842
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Acute myeloid leukemia
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Pediatric Leukemia
//
ID              RET_S819N(1); standard; MUTATION; PK
Accession       K01167
Systematic name g.43531G>A, c.2456G>A, r.2456g>a, p.Ser819Asn
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43531
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2651
Feature           /codon: agc -> aac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 819
Feature           /change: S -> N
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The amino acid change should be p.Ser819Asn which differs
Comment         -!-from the reference article
//
ID              RET_R844Q(1); standard; MUTATION; PK
Accession       K01168
Systematic name g.43606G>A, c.2531G>A, r.2531g>a, p.Arg844Gln
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18058472
RefAuthors      Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., 
RefAuthors      Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., 
RefAuthors      Jagielska, A., Kozlowicz-Gudzinska, I.
RefTitle        The occurrence and the type of germline mutations in the 
RefTitle        RET gene in patients with medullary thyroid carcinoma and 
RefTitle        their unaffected kindred's from Central Poland.
RefLoc          Cancer Invest 25:742-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43606
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2726
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 844
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_V778I(1); standard; MUTATION; PK
Accession       K01169
Systematic name g.42357G>A, c.2332G>A, r.2332g>a, p.Val778Ile
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 18252215
RefAuthors      Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. 
RefAuthors      E., Freemerman, A. J.
RefTitle        Renal aplasia in humans is associated with RET mutations.
RefLoc          Am J Hum Genet 82:344-51
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42357
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2527
Feature           /codon: gtc -> atc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 778
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              RET_G894S(1); standard; MUTATION; PK
Accession       K01170
Systematic name g.44090G>A, c.2680G>A, r.2680g>a, p.Gly894Ser
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 18252215
RefAuthors      Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. 
RefAuthors      E., Freemerman, A. J.
RefTitle        Renal aplasia in humans is associated with RET mutations.
RefLoc          Am J Hum Genet 82:344-51
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44090
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2875
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 894
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_R833C(1); standard; MUTATION; PK
Accession       K01171
Systematic name g.43572C>T, c.2497C>T, r.2497c>u, p.Arg833Cys
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [9]
RefCrossRef     PUBMED; 16469774
RefAuthors      Cranston, A., Carniti, C., Martin, S., Mondellini, P., 
RefAuthors      Hooks, Y., Leyland, J., Hodgson, S., Clarke, S., Pierotti, 
RefAuthors      M., Ponder, B. A., Bongarzone, I.
RefTitle        A novel activating mutation in the RET tyrosine kinase 
RefTitle        domain mediates neoplastic transformation.
RefLoc          Mol Endocrinol 20:1633-43
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43572
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2692
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 833
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_N777S(1); standard; MUTATION; PK
Accession       K01172
Systematic name g.42355A>G, c.2330A>G, r.2330a>g, p.Asn777Ser
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 16384843
RefAuthors      D'Aloiso, L., Carlomagno, F., Bisceglia, M., Anaganti, S., 
RefAuthors      Ferretti, E., Verrienti, A., Arturi, F., Scarpelli, D., 
RefAuthors      Russo, D., Santoro, M., Filetti, S.
RefTitle        Clinical case seminar: in vivo and in vitro 
RefTitle        characterization of a novel germline RET mutation 
RefTitle        associated with low-penetrant nonaggressive familial 
RefTitle        medullary thyroid carcinoma.
RefLoc          J Clin Endocrinol Metab 91:754-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 42355
Feature           /change: a -> g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2525
Feature           /codon: aac -> agc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 777
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              RET_S904S(2); standard; MUTATION; PK
Accession       K01173
Systematic name g.44122C>G, c.2712C>G, r.2712c>g, p.Ser904Ser
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 16525712
RefAuthors      Fernandez, R. M., Navarro, E., Antinolo, G., Ruiz-Ferrer, 
RefAuthors      M., Borrego, S.
RefTitle        Evaluation of the role of RET polymorphisms/haplotypes as 
RefTitle        modifier loci for MEN 2, and analysis of the correlation 
RefTitle        with the type of RET mutation in a series of Spanish 
RefTitle        patients.
RefLoc          Int J Mol Med 17:575-81
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44122
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2907
Feature           /codon: tcc -> tcg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 904
Feature           /change: S -> S
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Polymorphism
//
ID              RET_S836S(1); standard; MUTATION; PK
Accession       K01174
Systematic name g.43583C>T, c.2508C>T, r.2508c>u, p.Ser836Ser
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 16525712
RefAuthors      Fernandez, R. M., Navarro, E., Antinolo, G., Ruiz-Ferrer, 
RefAuthors      M., Borrego, S.
RefTitle        Evaluation of the role of RET polymorphisms/haplotypes as 
RefTitle        modifier loci for MEN 2, and analysis of the correlation 
RefTitle        with the type of RET mutation in a series of Spanish 
RefTitle        patients.
RefLoc          Int J Mol Med 17:575-81
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43583
Feature           /change: c -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2703
Feature           /codon: agc -> agt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 836
Feature           /change: S -> S
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Polymorphism
//
ID              RET_K758E(1); standard; MUTATION; PK
Accession       K01175
Systematic name g.40656A>G, c.2272A>G, r.2272a>g, p.Lys758Glu
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [13]
RefCrossRef     PUBMED; 16534860
RefAuthors      Tou, J. F., Li, M. J., Guan, T., Li, J. C., Zhu, X. K., 
RefAuthors      Feng, Z. G.
RefTitle        Mutation of RET proto-oncogene in Hirschsprung's disease 
RefTitle        and intestinal neuronal dysplasia.
RefLoc          World J Gastroenterol 12:1136-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 40656
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2467
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 758
Feature           /change: K -> E
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Diagnosis       Hirschsprung disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The amino acid change should be p.Lys758Glu which differs
Comment         -!-from the reference article.
//
ID              MET_V1121I(1); standard; MUTATION; PK
Accession       K01176
Systematic name g.107392G>A, c.3361G>A, r.3361g>a, p.Val1121Ile
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18636147
RefAuthors      Salvi, A., Marchina, E., Benetti, A., Grigolato, P., De 
RefAuthors      Petro, G., Barlati, S.
RefTitle        Germline and somatic c-met mutations in 
RefTitle        multifocal/bilateral and sporadic papillary renal 
RefTitle        carcinomas of selected patients.
RefLoc          Int J Oncol 33:271-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: MET_DNA: 107392
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X54559; GI:125484; X54559: 3555
Feature           /codon: gtt -> att; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MET_HUMAN: 1121
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Hereditary papillary renal carcinoma
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
Comment         -!-The nucleotide change and amino acid change(3361G>A and
Comment         -!-V1121I) differs from the reference( 3522G>A and V1110I)
//
ID              RET_M1009V(1); standard; MUTATION; PK
Accession       K01177
Systematic name g.48905A>G, c.3025A>G, r.3025a>g, p.Met1009Val
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 17270543
RefAuthors      Moore, S. W., Appfelstaedt, J., Zaahl, M. G.
RefTitle        Familial medullary carcinoma prevention, risk evaluation, 
RefTitle        and RET in children of families with MEN2.
RefLoc          J Pediatr Surg 42:326-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 48905
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3220
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 1009
Feature           /change: M -> V
Feature           /domain: PK
Diagnosis       Familial medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RET_A750P(1); standard; MUTATION; PK
Accession       K01178
Systematic name g.40632G>C, c.2248G>C, r.2248g>c, p.Ala750Pro
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 17270543
RefAuthors      Moore, S. W., Appfelstaedt, J., Zaahl, M. G.
RefTitle        Familial medullary carcinoma prevention, risk evaluation, 
RefTitle        and RET in children of families with MEN2.
RefLoc          J Pediatr Surg 42:326-32
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 40632
Feature           /change: g -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2443
Feature           /codon: gca -> cca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 750
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Multiple endocrine neoplasia type II
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              RET_R844W(1); standard; MUTATION; PK
Accession       K01179
Systematic name g.43605C>T, c.2530C>T, r.2530c>u, p.Arg844Trp
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16818057
RefAuthors      Kim, J. H., Yoon, K. O., Kim, J. K., Kim, J. W., Lee, S. 
RefAuthors      K., Kong, S. Y., Seo, J. M.
RefTitle        Novel mutations of RET gene in Korean patients with 
RefTitle        sporadic Hirschsprung's disease.
RefLoc          J Pediatr Surg 41:1250-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 43605
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2725
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 844
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Hirschsprung disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              RET_R886W(1); standard; MUTATION; PK
Accession       K01180
Systematic name g.44066C>T, c.2656C>T, r.2656c>u, p.Arg886Trp
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            20-Jul-2011 (Rel. 3, Created)
Date            20-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 16712668
RefAuthors      Prazeres, H. J., Rodrigues, F., Figueiredo, P., Naidenov, 
RefAuthors      P., Soares, P., Bugalho, M. J., Lacerda, M., Campos, B., 
RefAuthors      Martins, T. C.
RefTitle        Occurrence of the Cys611Tyr mutation and a novel Arg886Trp 
RefTitle        substitution in the RET proto-oncogene in multiple 
RefTitle        endocrine neoplasia type 2 families and sporadic medullary 
RefTitle        thyroid carcinoma cases originating from the central 
RefTitle        region of Portugal.
RefLoc          Clin Endocrinol (Oxf) 64:659-66
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: RET_DNA: 44066
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2851
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: RET_HUMAN: 886
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Sporadic medullary thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_W221X(2); standard; MUTATION; PK
Accession       K01181
Systematic name g.3002G>A, c.663G>A, r.663g>a, p.Trp221X
Description     A point mutation in the exon 5 leading to a premature stop
Description     codon in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3002
Feature           /change: g -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 945
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 221
Feature           /change: W -> X
Feature           /domain: PK
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_D330Y(1); standard; MUTATION; PK
Accession       K01182
Systematic name g.3966G>T, c.988G>T, r.988g>u, p.Asp330Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
RefNumber       [6]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
RefNumber       [9]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3966
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1270
Feature           /codon: gac -> tac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 330
Feature           /change: D -> Y
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_@L310X393(1); standard; MUTATION; PK
Accession       K01183
Systematic name g.3905_3906insA, c.927_928insA, r.927_928insa,
Systematic name p.Leu310fsX81
Description     A frame shift insertion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18673552
RefAuthors      Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., 
RefAuthors      Albinana, V., Garrido-Martin, E. M., Blanco, F. J., 
RefAuthors      Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. 
RefAuthors      E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., 
RefAuthors      Botella, L. M.
RefTitle        Mutation study of Spanish patients with hereditary 
RefTitle        hemorrhagic telangiectasia.
RefLoc          BMC Med Genet 9:75
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3906
Feature           /change: +a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1210
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 310
Feature           /change: L -> 
Feature           /change: TGAPARGDLR YTGQTSHCPP RLQEPQCAGQ EQPAVLHRRP
Feature           /change: GPGCDALTGQ RLPGHRQQPE SGHQAVHGTR GAGRADPHGL LX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_#S232-1(2); standard; MUTATION; PK
Accession       K01184
Systematic name g.3033delT, c.694delT, r.694delu, p.Ser232fsX25
Description     A frame shift deletion mutation in the exon 5 leading to a
Description     premature stop codon in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3033
Feature           /change: -t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 976
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 232
Feature           /change: S -> PRGMNSPGSG RLRSITQYCS DTTTSX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TEK_Y897H(1); standard; MUTATION; PK
Accession       K01185
Systematic name g.55886T>C, c.2689T>C, r.2689u>c, p.Tyr897His
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
RefNumber       [3]
RefCrossRef     PUBMED; 19079259
RefAuthors      Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., 
RefAuthors      Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., 
RefAuthors      Vikkula, M.
RefTitle        Somatic mutations in angiopoietin receptor gene TEK cause 
RefTitle        solitary and multiple sporadic venous malformations.
RefLoc          Nat Genet 41:118-24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55886
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2837
Feature           /codon: tac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 897
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TEK_Y897F(1); standard; MUTATION; PK
Accession       K01186
Systematic name g.55887A>T, c.2690A>T, r.2690a>u, p.Tyr897Phe
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
RefNumber       [3]
RefCrossRef     PUBMED; 19079259
RefAuthors      Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., 
RefAuthors      Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., 
RefAuthors      Vikkula, M.
RefTitle        Somatic mutations in angiopoietin receptor gene TEK cause 
RefTitle        solitary and multiple sporadic venous malformations.
RefLoc          Nat Genet 41:118-24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55887
Feature           /change: a -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838
Feature           /codon: tac -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 897
Feature           /change: Y -> F
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TEK_L914F(1); standard; MUTATION; PK
Accession       K01187
Systematic name g.55937C>T, c.2740C>T, r.2740c>u, p.Leu914Phe
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55937
Feature           /change: c -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2888
Feature           /codon: ctt -> ttt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 914
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TEK_R915C(1); standard; MUTATION; PK
Accession       K01188
Systematic name g.55940C>T, c.2743C>T, r.2743c>u, p.Arg915Cys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
RefNumber       [3]
RefCrossRef     PUBMED; 19079259
RefAuthors      Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., 
RefAuthors      Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., 
RefAuthors      Vikkula, M.
RefTitle        Somatic mutations in angiopoietin receptor gene TEK cause 
RefTitle        solitary and multiple sporadic venous malformations.
RefLoc          Nat Genet 41:118-24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55940
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1

Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2891
Feature           /codon: cgc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 915
Feature           /change: R -> C
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TEK_R915L(1); standard; MUTATION; PK
Accession       K01189
Systematic name g.55941G>T, c.2744G>T, r.2744g>u, p.Arg915Leu
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
RefNumber       [3]
RefCrossRef     PUBMED; 19079259
RefAuthors      Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., 
RefAuthors      Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., 
RefAuthors      Vikkula, M.
RefTitle        Somatic mutations in angiopoietin receptor gene TEK cause 
RefTitle        solitary and multiple sporadic venous malformations.
RefLoc          Nat Genet 41:118-24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55941
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2892
Feature           /codon: cgc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 915
Feature           /change: R -> L
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TEK_S917I(1); standard; MUTATION; PK
Accession       K01190
Systematic name g.55947G>T, c.2750G>T, r.2750g>u, p.Ser917Ile
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            22-Jul-2011 (Rel. 3, Created)
Date            22-Jul-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 17803937
RefAuthors      Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., 
RefAuthors      Neubert, T. A., Miller, W. T., Mohammadi, M.
RefTitle        A molecular brake in the kinase hinge region regulates the 
RefTitle        activity of receptor tyrosine kinases.
RefLoc          Mol Cell 27:717-30
RefNumber       [3]
RefCrossRef     PUBMED; 19079259
RefAuthors      Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., 
RefAuthors      Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., 
RefAuthors      Vikkula, M.
RefTitle        Somatic mutations in angiopoietin receptor gene TEK cause 
RefTitle        solitary and multiple sporadic venous malformations.
RefLoc          Nat Genet 41:118-24
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TEK_DNA: 55947
Feature           /change: g -> t
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2898
Feature           /codon: agc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TIE2_HUMAN: 917
Feature           /change: S -> I
Feature           /domain: PK
Diagnosis       Multiple venous malformations of the skin and mucous membranes
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR1B_R486W(1); standard; MUTATION; PK
Accession       K01191
Systematic name g.397653C>T, c.1456C>T, r.1456c>u, p.Arg486Trp
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            11-Aug-2011 (Rel. 3, Created)
Date            11-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14523231
RefAuthors      Lehmann, K., Seemann, P., Stricker, S., Sammar, M., Meyer, 
RefAuthors      B., Suring, K., Majewski, F., Tinschert, S., Grzeschik, K. 
RefAuthors      H., Muller, D., Knaus, P., Nurnberg, P., Mundlos, S.
RefTitle        Mutations in bone morphogenetic protein receptor 1B cause 
RefTitle        brachydactyly type A2.
RefLoc          Proc Natl Acad Sci U S A 100:12277-82
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 397653
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001203.2; GI:4502431; NM_001203.2: 1730
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR1B_HUMAN: 486
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       Type A2 brachydactyly
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BMPR1B_R486Q(1); standard; MUTATION; PK
Accession       K01192
Systematic name g.397654G>A, c.1457G>A, r.1457g>a, p.Arg486Gln
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            11-Aug-2011 (Rel. 3, Created)
Date            11-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16957682
RefAuthors      Lehmann, K., Seemann, P., Boergermann, J., Morin, G., 
RefAuthors      Reif, S., Knaus, P., Mundlos, S.
RefTitle        A novel R486Q mutation in BMPR1B resulting in either a 
RefTitle        brachydactyly type C/symphalangism-like phenotype or 
RefTitle        brachydactyly type A2.
RefLoc          Eur J Hum Genet 14:1248-54
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 397654
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001203.2; GI:4502431; NM_001203.2: 1731
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMR1B_HUMAN: 486
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Type A2 brachydactyly
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_F425V(1); standard; MUTATION; PK
Accession       K01193
Systematic name g.7537T>G, c.1273T>G, r.1273u>g, p.Phe425Val
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15712270
RefAuthors      Kuehl, H. K., Caselitz, M., Hasenkamp, S., Wagner, S., El-
RefAuthors      Harith, e. l. -. H. A., Manns, M. P., Stuhrmann, M.
RefTitle        Hepatic manifestation is associated with ALK1 in 
RefTitle        hereditary hemorrhagic telangiectasia: identification of 
RefTitle        five novel ALK1 and one novel ENG mutations.
RefLoc          Hum Mutat 25:320
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7537
Feature           /change: t -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1555
Feature           /codon: ttc -> gtc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 425
Feature           /change: F -> V
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#F425-1(1); standard; MUTATION; PK
Accession       K01194
Systematic name g.7538delT, c.1274delT, r.1274delu, p.Phe425fsX13
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15712270
RefAuthors      Kuehl, H. K., Caselitz, M., Hasenkamp, S., Wagner, S., El-
RefAuthors      Harith, e. l. -. H. A., Manns, M. P., Stuhrmann, M.
RefTitle        Hepatic manifestation is associated with ALK1 in 
RefTitle        hereditary hemorrhagic telangiectasia: identification of 
RefTitle        five novel ALK1 and one novel ENG mutations.
RefLoc          Hum Mutat 25:320
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7538
Feature           /change: -t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1556
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 425
Feature           /change: F -> SMMWCPMTPA LRTX
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P378H(1); standard; MUTATION; PK
Accession       K01195
Systematic name g.4646C>A, c.1133C>A, r.1133c>a, p.Pro378His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4646
Feature           /change: c -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1415
Feature           /codon: ccc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 378
Feature           /change: P -> H
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_R386H(1); standard; MUTATION; PK
Accession       K01196
Systematic name g.4670G>A, c.1157G>A, r.1157g>a, p.Arg386His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4670
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1439
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 386
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P424S(1); standard; MUTATION; PK
Accession       K01197
Systematic name g.7534C>T, c.1270C>T, r.1270c>u, p.Pro424Ser
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7534
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1552
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 424
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_V441M(1); standard; MUTATION; PK
Accession       K01198
Systematic name g.7585G>A, c.1321G>A, r.1321g>a, p.Val441Met
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
RefNumber       [6]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7585
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1603
Feature           /codon: gtg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 441
Feature           /change: V -> M
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P452L(1); standard; MUTATION; PK
Accession       K01199
Systematic name g.7619C>T, c.1355C>T, r.1355c>u, p.Pro452Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7619
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1637
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 452
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_I276T(1); standard; MUTATION; PK
Accession       K01200
Systematic name g.3805T>C, c.827T>C, r.827u>c, p.Ile276Thr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3805
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1109
Feature           /codon: atc -> acc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 276
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_S284F(1); standard; MUTATION; PK
Accession       K01201
Systematic name g.3829C>T, c.851C>T, r.851c>u, p.Ser284Phe
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3829
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1133
Feature           /codon: tcc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 284
Feature           /change: S -> F
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_S305P(1); standard; MUTATION; PK
Accession       K01202
Systematic name g.3891T>C, c.913T>C, r.913u>c, p.Ser305Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3891
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1195
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 305
Feature           /change: S -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_Q357X(1); standard; MUTATION; PK
Accession       K01203
Systematic name g.4582C>T, c.1069C>T, r.1069c>u, p.Gln357X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 15712271
RefAuthors      Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., 
RefAuthors      Stoeber, G. P., Lemire, E. G., Letarte, M.
RefTitle        Novel mutations and polymorphisms in genes causing 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Hum Mutat 25:320-1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4582
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1351
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 357
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Several other family member,but not reported how many.
//
ID              ACVRL1_P433S(1); standard; MUTATION; PK
Accession       K01204
Systematic name g.7561C>T, c.1297C>T, r.1297c>u, p.Pro433Ser
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16123970
RefAuthors      Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, 
RefAuthors      S., Neuhaus, P., Nayernia, K., Engel, W.
RefTitle        ALK-1 mutations in liver transplanted patients with 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Liver Transpl 11:1132-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7561
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1579
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 433
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              ACVRL1_T481I(1); standard; MUTATION; PK
Accession       K01205
Systematic name g.9349C>T, c.1442C>T, r.1442c>u, p.Thr481Ile
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16123970
RefAuthors      Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, 
RefAuthors      S., Neuhaus, P., Nayernia, K., Engel, W.
RefTitle        ALK-1 mutations in liver transplanted patients with 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Liver Transpl 11:1132-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 9349
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1724
Feature           /codon: acc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 481
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              ACVRL1_R329H(1); standard; MUTATION; PK
Accession       K01206
Systematic name g.3964G>A, c.986G>A, r.986g>a, p.Arg329His
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16123970
RefAuthors      Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, 
RefAuthors      S., Neuhaus, P., Nayernia, K., Engel, W.
RefTitle        ALK-1 mutations in liver transplanted patients with 
RefTitle        hereditary hemorrhagic telangiectasia.
RefLoc          Liver Transpl 11:1132-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3964
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1268
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 329
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_K229M(1); standard; MUTATION; PK
Accession       K01207
Systematic name g.3025A>T, c.686A>T, r.686a>u, p.Lys229Met
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3025
Feature           /change: a -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 968
Feature           /codon: aag -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 229
Feature           /change: K -> M
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_T372I(1); standard; MUTATION; PK
Accession       K01208
Systematic name g.4628C>T, c.1115C>T, r.1115c>u, p.Thr372Ile
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4628
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1397
Feature           /codon: acc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 372
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_L403P(1); standard; MUTATION; PK
Accession       K01209
Systematic name g.4721T>C, c.1208T>C, r.1208u>c, p.Leu403Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
RefNumber       [7]
RefCrossRef     PUBMED; 16525724
RefAuthors      Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. 
RefAuthors      E., Teske, U., Engel, W., Nayernia, K.
RefTitle        Novel mutations in the ENG and ACVRL1 genes causing 
RefTitle        hereditary hemorrhagic teleangiectasia.
RefLoc          Int J Mol Med 17:655-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4721
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1490
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 403
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_Y286X(2); standard; MUTATION; PK
Accession       K01210
Systematic name g.3836C>A, c.858C>A, r.858c>a, p.Tyr286X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
RefNumber       [8]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3836
Feature           /change: c -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1140
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 286
Feature           /change: Y -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVRL1_Q321X(1); standard; MUTATION; PK
Accession       K01211
Systematic name g.3939C>T, c.961C>T, r.961c>u, p.Gln321X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3939
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1243
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 321
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_W406C(1); standard; MUTATION; PK
Accession       K01212
Systematic name g.4731G>T, c.1218G>T, r.1218g>u, p.Trp406Cys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16429404
RefAuthors      Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., 
RefAuthors      Suppressa, P., Pasculli, G., Sabba, C., Guanti, G.
RefTitle        DHPLC-based mutation analysis of ENG and ALK-1 genes in 
RefTitle        HHT Italian population.
RefLoc          Hum Mutat 27:213-4
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4731
Feature           /change: g -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1500
Feature           /codon: tgg -> tgt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 406
Feature           /change: W -> C
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_S233L(1); standard; MUTATION; PK
Accession       K01213
Systematic name g.3037C>T, c.698C>T, r.698c>u, p.Ser233Leu
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16525724
RefAuthors      Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. 
RefAuthors      E., Teske, U., Engel, W., Nayernia, K.
RefTitle        Novel mutations in the ENG and ACVRL1 genes causing 
RefTitle        hereditary hemorrhagic teleangiectasia.
RefLoc          Int J Mol Med 17:655-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3037
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 980
Feature           /codon: tcg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 233
Feature           /change: S -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_T265P(1); standard; MUTATION; PK
Accession       K01214
Systematic name g.3771A>C, c.793A>C, r.793a>c, p.Thr265Pro
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16525724
RefAuthors      Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. 
RefAuthors      E., Teske, U., Engel, W., Nayernia, K.
RefTitle        Novel mutations in the ENG and ACVRL1 genes causing 
RefTitle        hereditary hemorrhagic teleangiectasia.
RefLoc          Int J Mol Med 17:655-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 3771
Feature           /change: a -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1075
Feature           /codon: acc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 265
Feature           /change: T -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_G416S(1); standard; MUTATION; PK
Accession       K01215
Systematic name g.4759G>A, c.1246G>A, r.1246g>a, p.Gly416Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16525724
RefAuthors      Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. 
RefAuthors      E., Teske, U., Engel, W., Nayernia, K.
RefTitle        Novel mutations in the ENG and ACVRL1 genes causing 
RefTitle        hereditary hemorrhagic teleangiectasia.
RefLoc          Int J Mol Med 17:655-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4759
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1528
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 416
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_#S434X438(1); standard; MUTATION; PK
Accession       K01216
Systematic name g.7566C>A, c.1302C>A, r.1302c>a, p.Ser434Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16525724
RefAuthors      Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. 
RefAuthors      E., Teske, U., Engel, W., Nayernia, K.
RefTitle        Novel mutations in the ENG and ACVRL1 genes causing 
RefTitle        hereditary hemorrhagic teleangiectasia.
RefLoc          Int J Mol Med 17:655-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 7566
Feature           /change: c -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1584
Feature           /codon: agc -> aga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 434
Feature           /change: S -> R
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A400D(1); standard; MUTATION; PK
Accession       K01217
Systematic name g.4712C>A, c.1199C>A, r.1199c>a, p.Ala400Asp
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4712
Feature           /change: c -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1481
Feature           /codon: gcc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 400
Feature           /change: A -> D
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_P378L(1); standard; MUTATION; PK
Accession       K01218
Systematic name g.4646C>T, c.1133C>T, r.1133c>u, p.Pro378Leu
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4646
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1415
Feature           /codon: ccc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 378
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_A352P(1); standard; MUTATION; PK
Accession       K01219
Systematic name g.4567G>C, c.1054G>C, r.1054g>c, p.Ala352Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4567
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1336
Feature           /codon: gct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 352
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVRL1_C344F(1); standard; MUTATION; PK
Accession       K01220
Systematic name g.4009G>T, c.1031G>T, r.1031g>u, p.Cys344Phe
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 12114496
RefAuthors      Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, 
RefAuthors      A., Malvezzi, L., Buscarini, E., Danesino, C.
RefTitle        Identification of 13 new mutations in the ACVRL1 gene in a 
RefTitle        group of 52 unselected Italian patients affected by 
RefTitle        hereditary haemorrhagic telangiectasia.
RefLoc          J Med Genet 39:E39
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: ACVRL1_DNA: 4009
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1313
Feature           /codon: tgt -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KIR3_HUMAN: 344
Feature           /change: C -> F
Feature           /domain: PK
Diagnosis       Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_N435S(1); standard; MUTATION; PK
Accession       K01221
Systematic name g.68277A>G, c.1304A>G, r.1304a>g, p.Asn435Ser
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11212236
RefAuthors      Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. 
RefAuthors      M., Hughes-Davies, L., Kemp, P. R., Hesketh, R.
RefTitle        Inhibiting mutations in the transforming growth factor 
RefTitle        beta type 2 receptor in recurrent human breast cancer.
RefLoc          Cancer Res 61:482-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68277
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2876
Feature           /codon: aat -> agt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 435
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Human breast cancer
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              TGFBR2_V447A(1); standard; MUTATION; PK
Accession       K01222
Systematic name g.68313T>C, c.1340T>C, r.1340u>c, p.Val447Ala
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11212236
RefAuthors      Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. 
RefAuthors      M., Hughes-Davies, L., Kemp, P. R., Hesketh, R.
RefTitle        Inhibiting mutations in the transforming growth factor 
RefTitle        beta type 2 receptor in recurrent human breast cancer.
RefLoc          Cancer Res 61:482-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68313
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2912
Feature           /codon: gtc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 447
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       Human breast cancer
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              TGFBR2_L452M(1); standard; MUTATION; PK
Accession       K01223
Systematic name g.68327C>A, c.1354C>A, r.1354c>a, p.Leu452Met
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11212236
RefAuthors      Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. 
RefAuthors      M., Hughes-Davies, L., Kemp, P. R., Hesketh, R.
RefTitle        Inhibiting mutations in the transforming growth factor 
RefTitle        beta type 2 receptor in recurrent human breast cancer.
RefLoc          Cancer Res 61:482-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 68327
Feature           /change: c -> a
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2926
Feature           /codon: ctg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 452
Feature           /change: L -> M
Feature           /domain: PK
Diagnosis       Human breast cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR2_N389N(1); standard; MUTATION; PK
Accession       K01224
Systematic name g.66473C>T, c.1167C>T, r.1167c>u, p.Asn389Asn
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Aug-2011 (Rel. 3, Created)
Date            15-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 11212236
RefAuthors      Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. 
RefAuthors      M., Hughes-Davies, L., Kemp, P. R., Hesketh, R.
RefTitle        Inhibiting mutations in the transforming growth factor 
RefTitle        beta type 2 receptor in recurrent human breast cancer.
RefLoc          Cancer Res 61:482-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: TGFBR2_DNA: 66473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: D50683; GI:586086; HSD6831: 2739
Feature           /codon: aac -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGR2_HUMAN: 389
Feature           /change: N -> N
Feature           /domain: PK
Diagnosis       Human breast cancer
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Silent mutation
//
ID              EGFR_W731L(1); standard; MUTATION; PK
Accession       K01225
Systematic name g.156709G>T, c.2192G>T, r.2192g>u, p.Trp731Leu
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156709
Feature           /change: g -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2438
Feature           /codon: tgg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 731
Feature           /change: W -> L
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_E734Q(1); standard; MUTATION; PK
Accession       K01226
Systematic name g.156717G>C, c.2200G>C, r.2200g>c, p.Glu734Gln
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156717
Feature           /change: g -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2446
Feature           /codon: gaa -> caa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 734
Feature           /change: E -> Q
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_T785A(1); standard; MUTATION; PK
Accession       K01227
Systematic name g.163342A>G, c.2353A>G, r.2353a>g, p.Thr785Ala
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163342
Feature           /change: a -> g
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2599
Feature           /codon: acc -> gcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 785
Feature           /change: T -> A
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_C797Y(1); standard; MUTATION; PK
Accession       K01228
Systematic name g.163379G>A, c.2390G>A, r.2390g>a, p.Cys797Tyr
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163379
Feature           /change: g -> a
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2636
Feature           /codon: tgc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 797
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_Y801H(1); standard; MUTATION; PK
Accession       K01229
Systematic name g.163390T>C, c.2401T>C, r.2401u>c, p.Tyr801His
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163390
Feature           /change: t -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2647
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 801
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_R831H(1); standard; MUTATION; PK
Accession       K01230
Systematic name g.173721G>A, c.2492G>A, r.2492g>a, p.Arg831His
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173721
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2738
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 831
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_L858R(1); standard; MUTATION; PK
Accession       K01231
Systematic name g.173802T>G, c.2573T>G, r.2573u>g, p.Leu858Arg
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
RefNumber       [2]
RefCrossRef     PUBMED; 21764376
RefAuthors      Yasuda, H., Kobayashi, S., Costa, D. B.
RefTitle        EGFR exon 20 insertion mutations in non-small-cell lung 
RefTitle        cancer: preclinical data and clinical implications.
RefLoc          Lancet Oncol:
RefNumber       [8]
RefCrossRef     PUBMED; 15870435
RefAuthors      Cappuzzo, F., Hirsch, F. R., Rossi, E., Bartolini, S., 
RefAuthors      Ceresoli, G. L., Bemis, L., Haney, J., Witta, S., 
RefAuthors      Danenberg, K., Domenichini, I., Ludovini, V., Magrini, E., 
RefAuthors      Gregorc, V., Doglioni, C., Sidoni, A., Tonato, M., 
RefAuthors      Franklin, W. A., Crino, L., Bunn, P. A., Varella-Garcia, 
RefAuthors      M.
RefTitle        Epidermal growth factor receptor gene and protein and 
RefTitle        gefitinib sensitivity in non-small-cell lung cancer.
RefLoc          J Natl Cancer Inst 97:643-55
RefNumber       [9]
RefCrossRef     PUBMED; 16204011
RefAuthors      Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., 
RefAuthors      Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., 
RefAuthors      Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., 
RefAuthors      Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., 
RefAuthors      Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, 
RefAuthors      D. A.
RefTitle        Epidermal growth factor receptor mutations and gene 
RefTitle        amplification in non-small-cell lung cancer: molecular 
RefTitle        analysis of the IDEAL/INTACT gefitinib trials.
RefLoc          J Clin Oncol 23:8081-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173802
Feature           /change: t -> g
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2819
Feature           /codon: ctg -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 858
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 9; Patients: 9; Homozygotes: 0
//
ID              EGFR_L861Q(1); standard; MUTATION; PK
Accession       K01233
Systematic name g.173811T>A, c.2582T>A, r.2582u>a, p.Leu861Gln
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 21252719
RefAuthors      Kancha, R. K., Peschel, C., Duyster, J.
RefTitle        The epidermal growth factor receptor-L861Q mutation 
RefTitle        increases kinase activity without leading to enhanced 
RefTitle        sensitivity toward epidermal growth factor receptor kinase 
RefTitle        inhibitors.
RefLoc          J Thorac Oncol 6:387-92
RefNumber       [2]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173811
Feature           /change: t -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2828
Feature           /codon: ctg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 861
Feature           /change: L -> Q
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              EGFR_E868G(1); standard; MUTATION; PK
Accession       K01234
Systematic name g.173832A>G, c.2603A>G, r.2603a>g, p.Glu868Gly
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20942962
RefAuthors      Foster, J. M., Radhakrishna, U., Govindarajan, V., 
RefAuthors      Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., 
RefAuthors      Loggie, B. W.
RefTitle        Clinical implications of novel activating EGFR mutations 
RefTitle        in malignant peritoneal mesothelioma.
RefLoc          World J Surg Oncol 8:88
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173832
Feature           /change: a -> g
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2849
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 868
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_F856L(1); standard; MUTATION; PK
Accession       K01235
Systematic name g.173797T>A, c.2568T>A, r.2568u>a, p.Phe856Leu
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173797
Feature           /change: t -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2814
Feature           /codon: ttt -> tta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 856
Feature           /change: F -> L
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_F856Y(1); standard; MUTATION; PK
Accession       K01236
Systematic name g.173796T>A, c.2567T>A, r.2567u>a, p.Phe856Tyr
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173796
Feature           /change: t -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2813
Feature           /codon: ttt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 856
Feature           /change: F -> Y
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_L828M(1); standard; MUTATION; PK
Accession       K01237
Systematic name g.173711T>A, c.2482T>A, r.2482u>a, p.Leu828Met
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173711
Feature           /change: t -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2728
Feature           /codon: ttg -> atg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 828
Feature           /change: L -> M
Feature           /domain: PK
Diagnosis       Malignant peritoneal mesothelioma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_G863D(1); standard; MUTATION; PK
Accession       K01238
Systematic name g.173817G>A, c.2588G>A, r.2588g>a, p.Gly863Asp
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
RefNumber       [5]
RefCrossRef     PUBMED; 16204011
RefAuthors      Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., 
RefAuthors      Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., 
RefAuthors      Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., 
RefAuthors      Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., 
RefAuthors      Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, 
RefAuthors      D. A.
RefTitle        Epidermal growth factor receptor mutations and gene 
RefTitle        amplification in non-small-cell lung cancer: molecular 
RefTitle        analysis of the IDEAL/INTACT gefitinib trials.
RefLoc          J Clin Oncol 23:8081-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173817
Feature           /change: g -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2834
Feature           /codon: ggt -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 863
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              EGFR_V851I(1); standard; MUTATION; PK
Accession       K01239
Systematic name g.173780G>A, c.2551G>A, r.2551g>a, p.Val851Ile
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 15870435
RefAuthors      Cappuzzo, F., Hirsch, F. R., Rossi, E., Bartolini, S., 
RefAuthors      Ceresoli, G. L., Bemis, L., Haney, J., Witta, S., 
RefAuthors      Danenberg, K., Domenichini, I., Ludovini, V., Magrini, E., 
RefAuthors      Gregorc, V., Doglioni, C., Sidoni, A., Tonato, M., 
RefAuthors      Franklin, W. A., Crino, L., Bunn, P. A., Varella-Garcia, 
RefAuthors      M.
RefTitle        Epidermal growth factor receptor gene and protein and 
RefTitle        gefitinib sensitivity in non-small-cell lung cancer.
RefLoc          J Natl Cancer Inst 97:643-55
RefNumber       [9]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173780
Feature           /change: g -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2797
Feature           /codon: gtc -> atc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 851
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              EGFR_V897I(1); standard; MUTATION; PK
Accession       K01240
Systematic name g.174809G>A, c.2689G>A, r.2689g>a, p.Val897Ile
Description     A point mutation in the exon 22 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 16204011
RefAuthors      Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., 
RefAuthors      Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., 
RefAuthors      Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., 
RefAuthors      Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., 
RefAuthors      Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, 
RefAuthors      D. A.
RefTitle        Epidermal growth factor receptor mutations and gene 
RefTitle        amplification in non-small-cell lung cancer: molecular 
RefTitle        analysis of the IDEAL/INTACT gefitinib trials.
RefLoc          J Clin Oncol 23:8081-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 174809
Feature           /change: g -> a
Feature           /genomic_region: exon; 22
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2935
Feature           /codon: gtc -> atc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 897
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_D770N(1); standard; MUTATION; PK
Accession       K01241
Systematic name g.163297G>A, c.2308G>A, r.2308g>a, p.Asp770Asn
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 16204011
RefAuthors      Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., 
RefAuthors      Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., 
RefAuthors      Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., 
RefAuthors      Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., 
RefAuthors      Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, 
RefAuthors      D. A.
RefTitle        Epidermal growth factor receptor mutations and gene 
RefTitle        amplification in non-small-cell lung cancer: molecular 
RefTitle        analysis of the IDEAL/INTACT gefitinib trials.
RefLoc          J Clin Oncol 23:8081-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163297
Feature           /change: g -> a
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2554
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 770
Feature           /change: D -> N
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_T783I(1); standard; MUTATION; PK
Accession       K01242
Systematic name g.163337C>T, c.2348C>T, r.2348c>u, p.Thr783Ile
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [10]
RefCrossRef     PUBMED; 16204011
RefAuthors      Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., 
RefAuthors      Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., 
RefAuthors      Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., 
RefAuthors      Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., 
RefAuthors      Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, 
RefAuthors      D. A.
RefTitle        Epidermal growth factor receptor mutations and gene 
RefTitle        amplification in non-small-cell lung cancer: molecular 
RefTitle        analysis of the IDEAL/INTACT gefitinib trials.
RefLoc          J Clin Oncol 23:8081-92
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163337
Feature           /change: c -> t
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2594
Feature           /codon: acc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 783
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_A839V(1); standard; MUTATION; PK
Accession       K01243
Systematic name g.173745C>T, c.2516C>T, r.2516c>u, p.Ala839Val
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173745
Feature           /change: c -> t
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2762
Feature           /codon: gca -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 839
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_G796C(1); standard; MUTATION; PK
Accession       K01244
Systematic name g.163375G>T, c.2386G>T, r.2386g>u, p.Gly796Cys
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163375
Feature           /change: g -> t
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2632
Feature           /codon: ggc -> tgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 796
Feature           /change: G -> C
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Prostate Cancer
//
ID              EGFR_P877L(1); standard; MUTATION; PK
Accession       K01245
Systematic name g.174750C>T, c.2630C>T, r.2630c>u, p.Pro877Leu
Description     A point mutation in the exon 22 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 174750
Feature           /change: c -> t
Feature           /genomic_region: exon; 22
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2876
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 877
Feature           /change: P -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Prostate Cancer The amino acid change varies from the
Comment         -!-original sequence.
//
ID              EGFR_F795L(1); standard; MUTATION; PK
Accession       K01246
Systematic name g.163372T>C, c.2383T>C, r.2383u>c, p.Phe795Leu
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163372
Feature           /change: t -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2629
Feature           /codon: ttc -> ctc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 795
Feature           /change: F -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Prostate Cancer                                            
Comment         -!- The amino acid change varies from the original sequence.
//
ID              EGFR_Q820R(1); standard; MUTATION; PK
Accession       K01247
Systematic name g.163448A>G, c.2459A>G, r.2459a>g, p.Gln820Arg
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163448
Feature           /change: a -> g
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2705
Feature           /codon: cag -> cgg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 820
Feature           /change: Q -> R
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Prostate Cancer
//
ID              EGFR_E804G(1); standard; MUTATION; PK
Accession       K01248
Systematic name g.163400A>G, c.2411A>G, r.2411a>g, p.Glu804Gly
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18193092
RefAuthors      Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., 
RefAuthors      Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, 
RefAuthors      P.
RefTitle        Epidermal growth factor receptor activation in prostate 
RefTitle        cancer by three novel missense mutations.
RefLoc          Oncogene 27:3201-10
RefNumber       [2]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163400
Feature           /change: a -> g
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2657
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 804
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_R748K(1); standard; MUTATION; PK
Accession       K01249
Systematic name g.156760G>A, c.2243G>A, r.2243g>a, p.Arg748Lys
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 17376509
RefAuthors      Dobashi, Y., Suzuki, S., Sugawara, H., Ooi, A.
RefTitle        Involvement of epidermal growth factor receptor and 
RefTitle        downstream molecules in bone and soft tissue tumors.
RefLoc          Hum Pathol 38:914-25
RefNumber       [4]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156760
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2489
Feature           /codon: aga -> aaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 748
Feature           /change: R -> K
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Bone and soft tissue tumors.
//
ID              EGFR_E734K(1); standard; MUTATION; PK
Accession       K01250
Systematic name g.156717G>A, c.2200G>A, r.2200g>a, p.Glu734Lys
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 17376509
RefAuthors      Dobashi, Y., Suzuki, S., Sugawara, H., Ooi, A.
RefTitle        Involvement of epidermal growth factor receptor and 
RefTitle        downstream molecules in bone and soft tissue tumors.
RefLoc          Hum Pathol 38:914-25
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156717
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2446
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 734
Feature           /change: E -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Bone and soft tissue tumors.
//
ID              EGFR_T751I(1); standard; MUTATION; PK
Accession       K01251
Systematic name g.156769C>T, c.2252C>T, r.2252c>u, p.Thr751Ile
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16014883
RefAuthors      Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel-
RefAuthors      Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., 
RefAuthors      Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, 
RefAuthors      A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., 
RefAuthors      Pater, J., Shepherd, F. A.
RefTitle        Erlotinib in lung cancer - molecular and clinical 
RefTitle        predictors of outcome.
RefLoc          N Engl J Med 353:133-44
RefNumber       [7]
RefCrossRef     PUBMED; 21266046
RefAuthors      Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., 
RefAuthors      Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., 
RefAuthors      Torchio, B., Mosso, L., Chiorino, G., Aglietta, M.
RefTitle        Epidermal Growth Factor Receptor (EGFR) mutation analysis, 
RefTitle        gene expression profiling and EGFR protein expression in 
RefTitle        primary prostate cancer.
RefLoc          BMC Cancer 11:31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156769
Feature           /change: c -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2498
Feature           /codon: aca -> ata; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 751
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Prostate Cancer
//
ID              EGFR_P733L(1); standard; MUTATION; PK
Accession       K01252
Systematic name g.156715C>T, c.2198C>T, r.2198c>u, p.Pro733Leu
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 16014883
RefAuthors      Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel-
RefAuthors      Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., 
RefAuthors      Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, 
RefAuthors      A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., 
RefAuthors      Pater, J., Shepherd, F. A.
RefTitle        Erlotinib in lung cancer - molecular and clinical 
RefTitle        predictors of outcome.
RefLoc          N Engl J Med 353:133-44
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156715
Feature           /change: c -> t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2444
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 733
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_V742A(1); standard; MUTATION; PK
Accession       K01253
Systematic name g.156742T>C, c.2225T>C, r.2225u>c, p.Val742Ala
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 16014883
RefAuthors      Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel-
RefAuthors      Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., 
RefAuthors      Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, 
RefAuthors      A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., 
RefAuthors      Pater, J., Shepherd, F. A.
RefTitle        Erlotinib in lung cancer - molecular and clinical 
RefTitle        predictors of outcome.
RefLoc          N Engl J Med 353:133-44
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156742
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2471
Feature           /codon: gtc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 742
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_L792P(1); standard; MUTATION; PK
Accession       K01254
Systematic name g.163364T>C, c.2375T>C, r.2375u>c, p.Leu792Pro
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 16014883
RefAuthors      Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel-
RefAuthors      Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., 
RefAuthors      Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, 
RefAuthors      A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., 
RefAuthors      Pater, J., Shepherd, F. A.
RefTitle        Erlotinib in lung cancer - molecular and clinical 
RefTitle        predictors of outcome.
RefLoc          N Engl J Med 353:133-44
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163364
Feature           /change: t -> c
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2621
Feature           /codon: ctc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 792
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_V851A(1); standard; MUTATION; PK
Accession       K01255
Systematic name g.173781T>C, c.2552T>C, r.2552u>c, p.Val851Ala
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 16014883
RefAuthors      Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel-
RefAuthors      Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., 
RefAuthors      Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, 
RefAuthors      A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., 
RefAuthors      Pater, J., Shepherd, F. A.
RefTitle        Erlotinib in lung cancer - molecular and clinical 
RefTitle        predictors of outcome.
RefLoc          N Engl J Med 353:133-44
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173781
Feature           /change: t -> c
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2798
Feature           /codon: gtc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 851
Feature           /change: V -> A
Feature           /domain: PK
Diagnosis       NONSMALL CELL LUNG CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_R841K(1); standard; MUTATION; PK
Accession       K01256
Systematic name g.173751G>A, c.2522G>A, r.2522g>a, p.Arg841Lys
Description     A point mutation in the exon 21 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 18193092
RefAuthors      Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., 
RefAuthors      Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, 
RefAuthors      P.
RefTitle        Epidermal growth factor receptor activation in prostate 
RefTitle        cancer by three novel missense mutations.
RefLoc          Oncogene 27:3201-10
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173751
Feature           /change: g -> a
Feature           /genomic_region: exon; 21
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2768
Feature           /codon: agg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 841
Feature           /change: R -> K
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_G735S(1); standard; MUTATION; PK
Accession       K01257
Systematic name g.156720G>A, c.2203G>A, r.2203g>a, p.Gly735Ser
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 18193092
RefAuthors      Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., 
RefAuthors      Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, 
RefAuthors      P.
RefTitle        Epidermal growth factor receptor activation in prostate 
RefTitle        cancer by three novel missense mutations.
RefLoc          Oncogene 27:3201-10
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156720
Feature           /change: g -> a
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2449
Feature           /codon: ggt -> agt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 735
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EGFR_G796S(1); standard; MUTATION; PK
Accession       K01258
Systematic name g.163375G>A, c.2386G>A, r.2386g>a, p.Gly796Ser
Description     A point mutation in the exon 20 leading to an amino acid
Description     change in the PK domain
Date            25-Aug-2011 (Rel. 3, Created)
Date            25-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED; 18193092
RefAuthors      Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., 
RefAuthors      Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, 
RefAuthors      P.
RefTitle        Epidermal growth factor receptor activation in prostate 
RefTitle        cancer by three novel missense mutations.
RefLoc          Oncogene 27:3201-10
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163375
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 20
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2632
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: EGFR_HUMAN: 796
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Prostate cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              LRRK2_I2012T(1); standard; MUTATION; PK
Accession       K01259
Systematic name g.144637T>C, c.6035T>C, r.6035u>c, p.Ile2012Thr
Description     A point mutation in the exon 41 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16622854
RefAuthors      Tomiyama, H., Li, Y., Funayama, M., Hasegawa, K., Yoshino, 
RefAuthors      H., Kubo, S., Sato, K., Hattori, T., Lu, C. S., Inzelberg, 
RefAuthors      R., Djaldetti, R., Melamed, E., Amouri, R., Gouider-
RefAuthors      Khouja, N., Hentati, F., Hatano, Y., Wang, M., Imamichi, 
RefAuthors      Y., Mizoguchi, K., Miyajima, H., Obata, F., Toda, T., 
RefAuthors      Farrer, M. J., Mizuno, Y., Hattori, N.
RefTitle        Clinicogenetic study of mutations in LRRK2 exon 41 in 
RefTitle        Parkinson's disease patients from 18 countries.
RefLoc          Mov Disord 21:1102-8
RefNumber       [2]
RefCrossRef     PUBMED; 19472409
RefAuthors      Paisan-Ruiz, C.
RefTitle        LRRK2 gene variation and its contribution to Parkinson 
RefTitle        disease.
RefLoc          Hum Mutat 30:1153-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144637
Feature           /change: t -> c
Feature           /genomic_region: exon; 41
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6156
Feature           /codon: att -> act; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2012
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              LRRK2_E2108E(1); standard; MUTATION; PK
Accession       K01260
Systematic name g.152709G>A, c.6324G>A, r.6324g>a, p.Glu2108Glu
Description     A point mutation in the exon 43 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 20443975
RefAuthors      Abdalla-Carvalho, C. B., Santos-Reboucas, C. B., 
RefAuthors      Guimaraes, B. C., Campos, M., Pereira, J. S., de Rosso, A. 
RefAuthors      L., Nicaretta, D. H., Marinho e Silva, M., dos Santos, M. 
RefAuthors      J., Pimentel, M. M.
RefTitle        Genetic analysis of LRRK2 functional domains in Brazilian 
RefTitle        patients with Parkinson's disease.
RefLoc          Eur J Neurol 17:1479-81
RefNumber       [1]
RefCrossRef     PUBMED; 19357115
RefAuthors      Lesage, S., Condroyer, C., Lannuzel, A., Lohmann, E., 
RefAuthors      Troiano, A., Tison, F., Damier, P., Thobois, S., Ouvrard-
RefAuthors      Hernandez, A. M., Rivaud-Pechoux, S., Brefel-Courbon, C., 
RefAuthors      Destee, A., Tranchant, C., Romana, M., Leclere, L., Durr, 
RefAuthors      A., Brice, A., , .
RefTitle        Molecular analyses of the LRRK2 gene in European and North 
RefTitle        African autosomal dominant Parkinson's disease.
RefLoc          J Med Genet 46:458-64
RefNumber       [23]
RefCrossRef     PUBMED; 20669299
RefAuthors      Ross, O. A., Wilhoite, G. J., Bacon, J. A., Soto-Ortolaza, 
RefAuthors      A., Kachergus, J., Cobb, S. A., Puschmann, A., Vilarino-
RefAuthors      Guell, C., Farrer, M. J., Graff-Radford, N., Meschia, J. 
RefAuthors      F., Wszolek, Z. K.
RefTitle        LRRK2 variation and Parkinson's disease in African 
RefTitle        Americans.
RefLoc          Mov Disord 25:1973-6
RefNumber       [24]
RefCrossRef     PUBMED; 20721913
RefAuthors      Jasinska-Myga, B., Kachergus, J., Vilarino-Guell, C., 
RefAuthors      Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. 
RefAuthors      T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, 
RefAuthors      S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., 
RefAuthors      Hentati, F., Farrer, M. J.
RefTitle        Comprehensive sequencing of the LRRK2 gene in patients 
RefTitle        with familial Parkinson's disease from North Africa.
RefLoc          Mov Disord 25:2052-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 152709
Feature           /change: g -> a
Feature           /genomic_region: exon; 43
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6445
Feature           /codon: gag -> gaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2108
Feature           /change: E -> E
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 39; Patients: 39; Homozygotes: 16
Comment         -!-Novel polymorphism
//
ID              LRRK2_N2081D(1); standard; MUTATION; PK
Accession       K01261
Systematic name g.151141A>G, c.6241A>G, r.6241a>g, p.Asn2081Asp
Description     A point mutation in the exon 42 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 19357115
RefAuthors      Lesage, S., Condroyer, C., Lannuzel, A., Lohmann, E., 
RefAuthors      Troiano, A., Tison, F., Damier, P., Thobois, S., Ouvrard-
RefAuthors      Hernandez, A. M., Rivaud-Pechoux, S., Brefel-Courbon, C., 
RefAuthors      Destee, A., Tranchant, C., Romana, M., Leclere, L., Durr, 
RefAuthors      A., Brice, A., , .
RefTitle        Molecular analyses of the LRRK2 gene in European and North 
RefTitle        African autosomal dominant Parkinson's disease.
RefLoc          J Med Genet 46:458-64
RefNumber       [3]
RefCrossRef     PUBMED; 20443975
RefAuthors      Abdalla-Carvalho, C. B., Santos-Reboucas, C. B., 
RefAuthors      Guimaraes, B. C., Campos, M., Pereira, J. S., de Rosso, A. 
RefAuthors      L., Nicaretta, D. H., Marinho e Silva, M., dos Santos, M. 
RefAuthors      J., Pimentel, M. M.
RefTitle        Genetic analysis of LRRK2 functional domains in Brazilian 
RefTitle        patients with Parkinson's disease.
RefLoc          Eur J Neurol 17:1479-81
RefNumber       [25]
RefCrossRef     PUBMED; 20721913
RefAuthors      Jasinska-Myga, B., Kachergus, J., Vilarino-Guell, C., 
RefAuthors      Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. 
RefAuthors      T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, 
RefAuthors      S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., 
RefAuthors      Hentati, F., Farrer, M. J.
RefTitle        Comprehensive sequencing of the LRRK2 gene in patients 
RefTitle        with familial Parkinson's disease from North Africa.
RefLoc          Mov Disord 25:2052-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 151141
Feature           /change: a -> g
Feature           /genomic_region: exon; 42
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6362
Feature           /codon: aat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2081
Feature           /change: N -> D
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 8; Patients: 8; Homozygotes: 0
//
ID              LRRK2_G2019S(1); standard; MUTATION; PK
Accession       K01262
Systematic name g.144657G>A, c.6055G>A, r.6055g>a, p.Gly2019Ser
Description     A point mutation in the exon 41 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED; 20443975
RefAuthors      Abdalla-Carvalho, C. B., Santos-Reboucas, C. B., 
RefAuthors      Guimaraes, B. C., Campos, M., Pereira, J. S., de Rosso, A. 
RefAuthors      L., Nicaretta, D. H., Marinho e Silva, M., dos Santos, M. 
RefAuthors      J., Pimentel, M. M.
RefTitle        Genetic analysis of LRRK2 functional domains in Brazilian 
RefTitle        patients with Parkinson's disease.
RefLoc          Eur J Neurol 17:1479-81
RefNumber       [5]
RefCrossRef     PUBMED; 19357115
RefAuthors      Lesage, S., Condroyer, C., Lannuzel, A., Lohmann, E., 
RefAuthors      Troiano, A., Tison, F., Damier, P., Thobois, S., Ouvrard-
RefAuthors      Hernandez, A. M., Rivaud-Pechoux, S., Brefel-Courbon, C., 
RefAuthors      Destee, A., Tranchant, C., Romana, M., Leclere, L., Durr, 
RefAuthors      A., Brice, A., , .
RefTitle        Molecular analyses of the LRRK2 gene in European and North 
RefTitle        African autosomal dominant Parkinson's disease.
RefLoc          J Med Genet 46:458-64
RefNumber       [6]
RefCrossRef     PUBMED; 18539535
RefAuthors      Hulihan, M. M., Ishihara-Paul, L., Kachergus, J., Warren, 
RefAuthors      L., Amouri, R., Elango, R., Prinjha, R. K., Upmanyu, R., 
RefAuthors      Kefi, M., Zouari, M., Sassi, S. B., Yahmed, S. B., El Euch-
RefAuthors      Fayeche, G., Matthews, P. M., Middleton, L. T., Gibson, R. 
RefAuthors      A., Hentati, F., Farrer, M. J.
RefTitle        LRRK2 Gly2019Ser penetrance in Arab-Berber patients from 
RefTitle        Tunisia: a case-control genetic study.
RefLoc          Lancet Neurol 7:591-4
RefNumber       [7]
RefCrossRef     PUBMED; 16622854
RefAuthors      Tomiyama, H., Li, Y., Funayama, M., Hasegawa, K., Yoshino, 
RefAuthors      H., Kubo, S., Sato, K., Hattori, T., Lu, C. S., Inzelberg, 
RefAuthors      R., Djaldetti, R., Melamed, E., Amouri, R., Gouider-
RefAuthors      Khouja, N., Hentati, F., Hatano, Y., Wang, M., Imamichi, 
RefAuthors      Y., Mizoguchi, K., Miyajima, H., Obata, F., Toda, T., 
RefAuthors      Farrer, M. J., Mizuno, Y., Hattori, N.
RefTitle        Clinicogenetic study of mutations in LRRK2 exon 41 in 
RefTitle        Parkinson's disease patients from 18 countries.
RefLoc          Mov Disord 21:1102-8
RefNumber       [8]
RefCrossRef     PUBMED; 18621566
RefAuthors      De Rosa, A., Criscuolo, C., Mancini, P., De Martino, M., 
RefAuthors      Giordano, I. A., Pappata, S., Filla, A., De Michele, G.
RefTitle        Genetic screening for LRRK2 gene G2019S mutation in 
RefTitle        Parkinson's disease patients from Southern Italy.
RefLoc          Parkinsonism Relat Disord 15:242-4
RefNumber       [9]
RefCrossRef     PUBMED; 19283415
RefAuthors      Bar-Shira, A., Hutter, C. M., Giladi, N., Zabetian, C. P., 
RefAuthors      Orr-Urtreger, A.
RefTitle        Ashkenazi Parkinson's disease patients with the LRRK2 
RefTitle        G2019S mutation share a common founder dating from the 
RefTitle        second to fifth centuries.
RefLoc          Neurogenetics 10:355-8
RefNumber       [10]
RefCrossRef     PUBMED; 19412725
RefAuthors      Hassin-Baer, S., Laitman, Y., Azizi, E., Molchadski, I., 
RefAuthors      Galore-Haskel, G., Barak, F., Cohen, O. S., Friedman, E.
RefTitle        The leucine rich repeat kinase 2 (LRRK2) G2019S 
RefTitle        substitution mutation. Association with Parkinson disease, 
RefTitle        malignant melanoma and prevalence in ethnic groups in 
RefTitle        Israel.
RefLoc          J Neurol 256:483-7
RefNumber       [11]
RefCrossRef     PUBMED; 20721913
RefAuthors      Jasinska-Myga, B., Kachergus, J., Vilarino-Guell, C., 
RefAuthors      Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. 
RefAuthors      T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, 
RefAuthors      S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., 
RefAuthors      Hentati, F., Farrer, M. J.
RefTitle        Comprehensive sequencing of the LRRK2 gene in patients 
RefTitle        with familial Parkinson's disease from North Africa.
RefLoc          Mov Disord 25:2052-8
RefNumber       [25]
RefCrossRef     PUBMED; 16272164
RefAuthors      Khan, N. L., Jain, S., Lynch, J. M., Pavese, N., Abou-
RefAuthors      Sleiman, P., Holton, J. L., Healy, D. G., Gilks, W. P., 
RefAuthors      Sweeney, M. G., Ganguly, M., Gibbons, V., Gandhi, S., 
RefAuthors      Vaughan, J., Eunson, L. H., Katzenschlager, R., Gayton, 
RefAuthors      J., Lennox, G., Revesz, T., Nicholl, D., Bhatia, K. P., 
RefAuthors      Quinn, N., Brooks, D., Lees, A. J., Davis, M. B., Piccini, 
RefAuthors      P., Singleton, A. B., Wood, N. W.
RefTitle        Mutations in the gene LRRK2 encoding dardarin (PARK8) 
RefTitle        cause familial Parkinson's disease: clinical, 
RefTitle        pathological, olfactory and functional imaging and genetic 
RefTitle        data.
RefLoc          Brain 128:2786-96
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144657
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 41
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6176
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2019
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 201; Patients: 213; Homozygotes: 22
//
ID              LRRK2_I2020T(1); standard; MUTATION; PK
Accession       K01263
Systematic name g.144661T>C, c.6059T>C, r.6059u>c, p.Ile2020Thr
Description     A point mutation in the exon 41 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [12]
RefCrossRef     PUBMED; 15880653
RefAuthors      Funayama, M., Hasegawa, K., Ohta, E., Kawashima, N., 
RefAuthors      Komiyama, M., Kowa, H., Tsuji, S., Obata, F.
RefTitle        An LRRK2 mutation as a cause for the parkinsonism in the 
RefTitle        original PARK8 family.
RefLoc          Ann Neurol 57:918-21
RefNumber       [13]
RefCrossRef     PUBMED; 16622854
RefAuthors      Tomiyama, H., Li, Y., Funayama, M., Hasegawa, K., Yoshino, 
RefAuthors      H., Kubo, S., Sato, K., Hattori, T., Lu, C. S., Inzelberg, 
RefAuthors      R., Djaldetti, R., Melamed, E., Amouri, R., Gouider-
RefAuthors      Khouja, N., Hentati, F., Hatano, Y., Wang, M., Imamichi, 
RefAuthors      Y., Mizoguchi, K., Miyajima, H., Obata, F., Toda, T., 
RefAuthors      Farrer, M. J., Mizuno, Y., Hattori, N.
RefTitle        Clinicogenetic study of mutations in LRRK2 exon 41 in 
RefTitle        Parkinson's disease patients from 18 countries.
RefLoc          Mov Disord 21:1102-8
RefNumber       [14]
RefCrossRef     PUBMED; 19472409
RefAuthors      Paisan-Ruiz, C.
RefTitle        LRRK2 gene variation and its contribution to Parkinson 
RefTitle        disease.
RefLoc          Hum Mutat 30:1153-60
RefNumber       [15]
RefCrossRef     PUBMED; 15541309
RefAuthors      Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., 
RefAuthors      Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., 
RefAuthors      Uitti, R. J., Calne, D. B., Stoessl, A. J., Pfeiffer, R. 
RefAuthors      F., Patenge, N., Carbajal, I. C., Vieregge, P., Asmus, F., 
RefAuthors      Muller-Myhsok, B., Dickson, D. W., Meitinger, T., Strom, 
RefAuthors      T. M., Wszolek, Z. K., Gasser, T.
RefTitle        Mutations in LRRK2 cause autosomal-dominant parkinsonism 
RefTitle        with pleomorphic pathology.
RefLoc          Neuron 44:601-7
RefNumber       [16]
 
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144661
Feature           /change: t -> c
Feature           /genomic_region: exon; 41
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6180
Feature           /codon: att -> act; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2020
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 5; Patients: 62; Homozygotes: 0
//
ID              LRRK2_R1941H(1); standard; MUTATION; PK
Accession       K01264
Systematic name g.139288G>A, c.5822G>A, r.5822g>a, p.Arg1941His
Description     A point mutation in the exon 40 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [17]
RefCrossRef     PUBMED; 16272164
RefAuthors      Khan, N. L., Jain, S., Lynch, J. M., Pavese, N., Abou-
RefAuthors      Sleiman, P., Holton, J. L., Healy, D. G., Gilks, W. P., 
RefAuthors      Sweeney, M. G., Ganguly, M., Gibbons, V., Gandhi, S., 
RefAuthors      Vaughan, J., Eunson, L. H., Katzenschlager, R., Gayton, 
RefAuthors      J., Lennox, G., Revesz, T., Nicholl, D., Bhatia, K. P., 
RefAuthors      Quinn, N., Brooks, D., Lees, A. J., Davis, M. B., Piccini, 
RefAuthors      P., Singleton, A. B., Wood, N. W.
RefTitle        Mutations in the gene LRRK2 encoding dardarin (PARK8) 
RefTitle        cause familial Parkinson's disease: clinical, 
RefTitle        pathological, olfactory and functional imaging and genetic 
RefTitle        data.
RefLoc          Brain 128:2786-96
RefNumber       [18]
RefCrossRef     PUBMED; 19472409
RefAuthors      Paisan-Ruiz, C.
RefTitle        LRRK2 gene variation and its contribution to Parkinson 
RefTitle        disease.
RefLoc          Hum Mutat 30:1153-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 139288
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 40
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 5943
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 1941
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              LRRK2_Y2006H(1); standard; MUTATION; PK
Accession       K01265
Systematic name g.144618T>C, c.6016T>C, r.6016u>c, p.Tyr2006His
Description     A point mutation in the exon 41 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 17353388
RefAuthors      Lesage, S., Janin, S., Lohmann, E., Leutenegger, A. L., 
RefAuthors      Leclere, L., Viallet, F., Pollak, P., Durif, F., Thobois, 
RefAuthors      S., Layet, V., Vidailhet, M., Agid, Y., Durr, A., Brice, 
RefAuthors      A., , ., Bonnet, A. M., Borg, M., Broussolle, E., Damier, 
RefAuthors      P., Destee, A., Martinez, M., Penet, C., Rasco, O., Tison, 
RefAuthors      F., Tranchan, C., Verin, M.
RefTitle        LRRK2 exon 41 mutations in sporadic Parkinson disease in 
RefTitle        Europeans.
RefLoc          Arch Neurol 64:425-30
RefNumber       [20]
RefCrossRef     PUBMED; 19472409
RefAuthors      Paisan-Ruiz, C.
RefTitle        LRRK2 gene variation and its contribution to Parkinson 
RefTitle        disease.
RefLoc          Hum Mutat 30:1153-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144618
Feature           /change: t -> c
Feature           /genomic_region: exon; 41
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6137
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2006
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              LRRK2_T2031S(1); standard; MUTATION; PK
Accession       K01266
Systematic name g.144693A>T, c.6091A>T, r.6091a>u, p.Thr2031Ser
Description     A point mutation in the exon 41 leading to an amino acid
Description     change in the PK domain
Date            26-Aug-2011 (Rel. 3, Created)
Date            26-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [19]
RefCrossRef     PUBMED; 17353388
RefAuthors      Lesage, S., Janin, S., Lohmann, E., Leutenegger, A. L., 
RefAuthors      Leclere, L., Viallet, F., Pollak, P., Durif, F., Thobois, 
RefAuthors      S., Layet, V., Vidailhet, M., Agid, Y., Durr, A., Brice, 
RefAuthors      A., , ., Bonnet, A. M., Borg, M., Broussolle, E., Damier, 
RefAuthors      P., Destee, A., Martinez, M., Penet, C., Rasco, O., Tison, 
RefAuthors      F., Tranchan, C., Verin, M.
RefTitle        LRRK2 exon 41 mutations in sporadic Parkinson disease in 
RefTitle        Europeans.
RefLoc          Arch Neurol 64:425-30
RefNumber       [20]
RefCrossRef     PUBMED; 19472409
RefAuthors      Paisan-Ruiz, C.
RefTitle        LRRK2 gene variation and its contribution to Parkinson 
RefTitle        disease.
RefLoc          Hum Mutat 30:1153-60
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144693
Feature           /change: a -> t
Feature           /genomic_region: exon; 41
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6212
Feature           /codon: aca -> tca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: LRRK2_HUMAN: 2031
Feature           /change: T -> S
Feature           /domain: PK
Diagnosis       PARKINSON DISEASE-8
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              AURKC_#L49X71(1); standard; MUTATION; PK
Accession       K01267
Systematic name g.2065delC, c.145delC, r.145delc, p.Leu49fsX22
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17435757
RefAuthors      Dieterich, K., Soto Rifo, R., Faure, A. K., Hennebicq, S., 
RefAuthors      Ben Amar, B., Zahi, M., Perrin, J., Martinez, D., Sele, 
RefAuthors      B., Jouk, P. S., Ohlmann, T., Rousseaux, S., Lunardi, J., 
RefAuthors      Ray, P. F.
RefTitle        Homozygous mutation of AURKC yields large-headed polyploid 
RefTitle        spermatozoa and causes male infertility.
RefLoc          Nat Genet 39:661-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 2065
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 334
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: AURKC_HUMAN: 49
Feature           /change: L -> WARGNLGMCT WLGSRKAISL WPX
Feature           /domain: PK
Diagnosis       SPERMATOGENIC FAILURE 5
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              AURKC_#P48X71(1); standard; MUTATION; PK
Accession       K01268
Systematic name g.2064delC, c.144delC, r.144delc, p.Leu49fsX22
Description     A frame shift deletion mutation in the exon 3 leading to a
Description     premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 19147683
RefAuthors      Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., 
RefAuthors      Martinez, D., Bellayou, H., Prisant, N., Zoghmar, A., 
RefAuthors      Guichaoua, M. R., Koscinski, I., Kharouf, M., Noruzinia, 
RefAuthors      M., Nadifi, S., Sefiani, A., Lornage, J., Zahi, M., 
RefAuthors      Viville, S., Sele, B., Jouk, P. S., Jacob, M. C., 
RefAuthors      Escalier, D., Nikas, Y., Hennebicq, S., Lunardi, J., Ray, 
RefAuthors      P. F.
RefTitle        The Aurora Kinase C c.144delC mutation causes meiosis I 
RefTitle        arrest in men and is frequent in the North African 
RefTitle        population.
RefLoc          Hum Mol Genet 18:1301-9
RefNumber       [3]
RefCrossRef     PUBMED; 17435757
RefAuthors      Dieterich, K., Soto Rifo, R., Faure, A. K., Hennebicq, S., 
RefAuthors      Ben Amar, B., Zahi, M., Perrin, J., Martinez, D., Sele, 
RefAuthors      B., Jouk, P. S., Ohlmann, T., Rousseaux, S., Lunardi, J., 
RefAuthors      Ray, P. F.
RefTitle        Homozygous mutation of AURKC yields large-headed polyploid 
RefTitle        spermatozoa and causes male infertility.
RefLoc          Nat Genet 39:661-5
RefNumber       [4]
RefCrossRef     PUBMED; 21733974
RefAuthors      Ben Khelifa, M., Zouari, R., Harbuz, R., Halouani, L., 
RefAuthors      Arnoult, C., Lunardi, J., Ray, P. F.
RefTitle        A new AURKC mutation causing macrozoospermia: implications 
RefTitle        for human spermatogenesis and clinical diagnosis.
RefLoc          Mol Hum Reprod:
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 2064
Feature           /change: -c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 333
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: AURKC_HUMAN: 48
Feature           /change: P -> PWARGNLGMC TWLGSRKAIS LWPX
Feature           /domain: PK
Diagnosis       SPERMATOGENIC FAILURE 5
Diagnosis       MEIOSIS I ARREST
Occurrence      Families: 33; Patients: 36; Homozygotes: 32
Comment         -!-Male Infertility
//
ID              AURKC_I79V(1); standard; MUTATION; PK
Accession       K01269
Systematic name g.2155A>G, c.235A>G, r.235a>g, p.Ile79Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 19147683
RefAuthors      Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., 
RefAuthors      Martinez, D., Bellayou, H., Prisant, N., Zoghmar, A., 
RefAuthors      Guichaoua, M. R., Koscinski, I., Kharouf, M., Noruzinia, 
RefAuthors      M., Nadifi, S., Sefiani, A., Lornage, J., Zahi, M., 
RefAuthors      Viville, S., Sele, B., Jouk, P. S., Jacob, M. C., 
RefAuthors      Escalier, D., Nikas, Y., Hennebicq, S., Lunardi, J., Ray, 
RefAuthors      P. F.
RefTitle        The Aurora Kinase C c.144delC mutation causes meiosis I 
RefTitle        arrest in men and is frequent in the North African 
RefTitle        population.
RefLoc          Hum Mol Genet 18:1301-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 2155
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 424
Feature           /codon: ata -> gta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AURKC_HUMAN: 79
Feature           /change: I -> V
Feature           /domain: PK
Diagnosis       SPERMATOGENIC FAILURE 5
Diagnosis       MEIOSIS I ARREST
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The patient also carried mutation in c.144delC
//
ID              AURKC_C229Y(1); standard; MUTATION; PK
Accession       K01270
Systematic name g.4977G>A, c.686G>A, r.686g>a, p.Cys229Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19147683
RefAuthors      Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., 
RefAuthors      Martinez, D., Bellayou, H., Prisant, N., Zoghmar, A., 
RefAuthors      Guichaoua, M. R., Koscinski, I., Kharouf, M., Noruzinia, 
RefAuthors      M., Nadifi, S., Sefiani, A., Lornage, J., Zahi, M., 
RefAuthors      Viville, S., Sele, B., Jouk, P. S., Jacob, M. C., 
RefAuthors      Escalier, D., Nikas, Y., Hennebicq, S., Lunardi, J., Ray, 
RefAuthors      P. F.
RefTitle        The Aurora Kinase C c.144delC mutation causes meiosis I 
RefTitle        arrest in men and is frequent in the North African 
RefTitle        population.
RefLoc          Hum Mol Genet 18:1301-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 4977
Feature           /change: g -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 875
Feature           /codon: tgc -> tac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AURKC_HUMAN: 229
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       MEIOSIS I ARREST
Occurrence      Families: ; Patients: ; Homozygotes: 
Comment         -!-The patient is also carried mutation in c.144delC
//
ID              CDKL5_E203X(1); standard; MUTATION; PK
Accession       K01271
Systematic name g.163424G>T, c.607G>T, r.607g>u, p.Glu203X
Description     A point mutation in the exon 10 leading to a premature stop
Description     codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 21160487
RefAuthors      Hadzsiev, K., Polgar, N., Bene, J., Komlosi, K., Karteszi, 
RefAuthors      J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.
RefTitle        Analysis of Hungarian patients with Rett syndrome 
RefTitle        phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
RefLoc          J Hum Genet 56:183-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 163424
Feature           /change: g -> t
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 856
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 203
Feature           /change: E -> X
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_S196L(1); standard; MUTATION; PK
Accession       K01272
Systematic name g.163404C>T, c.587C>T, r.587c>u, p.Ser196Leu
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20397747
RefAuthors      White, R., Ho, G., Schmidt, S., Scheffer, I. E., Fischer, 
RefAuthors      A., Yendle, S. C., Bienvenu, T., Nectoux, J., Ellaway, C. 
RefAuthors      J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, 
RefAuthors      B., Kalra, V., Fullston, T., Gecz, J., Cox, T. C., 
RefAuthors      Christodoulou, J.
RefTitle        Cyclin-dependent kinase-like 5 (CDKL5) mutation screening 
RefTitle        in Rett syndrome and related disorders.
RefLoc          Twin Res Hum Genet 13:168-78
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 163404
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 836
Feature           /codon: tcg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 196
Feature           /change: S -> L
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_G20R(1); standard; MUTATION; PK
Accession       K01273
Systematic name g.82572G>C, c.58G>C, r.58g>c, p.Gly20Arg
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 20397747
RefAuthors      White, R., Ho, G., Schmidt, S., Scheffer, I. E., Fischer, 
RefAuthors      A., Yendle, S. C., Bienvenu, T., Nectoux, J., Ellaway, C. 
RefAuthors      J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, 
RefAuthors      B., Kalra, V., Fullston, T., Gecz, J., Cox, T. C., 
RefAuthors      Christodoulou, J.
RefTitle        Cyclin-dependent kinase-like 5 (CDKL5) mutation screening 
RefTitle        in Rett syndrome and related disorders.
RefLoc          Twin Res Hum Genet 13:168-78
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 82572
Feature           /change: g -> c
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 307
Feature           /codon: ggt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 20
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_I72T(1); standard; MUTATION; PK
Accession       K01274
Systematic name g.150841T>C, c.215T>C, r.215u>c, p.Ile72Thr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
RefNumber       [26]
RefCrossRef     PUBMED; 19241098
RefAuthors      Russo, S., Marchi, M., Cogliati, F., Bonati, M. T., 
RefAuthors      Pintaudi, M., Veneselli, E., Saletti, V., Balestrini, M., 
RefAuthors      Ben-Zeev, B., Larizza, L.
RefTitle        Novel mutations in the CDKL5 gene, predicted effects and 
RefTitle        associated phenotypes.
RefLoc          Neurogenetics 10:241-50
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150841
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 464
Feature           /codon: att -> act; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 72
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              CDKL5_C152F(1); standard; MUTATION; PK
Accession       K01275
Systematic name g.157360G>T, c.455G>T, r.455g>u, p.Cys152Phe
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED;     15499549
RefAuthors      Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., 
RefAuthors      Moser, B., Raynaud, M., Sperner, J., Fryns, J. P., 
RefAuthors      Schwinger, E., Gecz, J., Ropers, H. H., Kalscheuer, V. M.
RefTitle        Mutations in the X-linked cyclin-dependent kinase-like 
RefTitle        5 (CDKL5/STK9) gene are associated with severe 
RefTitle        neurodevelopmental retardation.
RefLoc          Am J Hum Genet 75:1149-54
RefNumber       [6]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 157360
Feature           /change: g -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 704
Feature           /codon: tgt -> ttt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 152
Feature           /change: C -> F
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Diagnosis       Severe mental retardation
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_R175S(1); standard; MUTATION; PK
Accession       K01276
Systematic name g.159742A>T, c.525A>T, r.525a>u, p.Arg175Ser
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED;     15499549
RefAuthors      Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., 
RefAuthors      Moser, B., Raynaud, M., Sperner, J., Fryns, J. P., 
RefAuthors      Schwinger, E., Gecz, J., Ropers, H. H., Kalscheuer, V. M.
RefTitle        Mutations in the X-linked cyclin-dependent kinase-like 
RefTitle        5 (CDKL5/STK9) gene are associated with severe 
RefTitle        neurodevelopmental retardation.
RefLoc          Am J Hum Genet 75:1149-54
RefNumber       [6]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
RefNumber       [25]
RefCrossRef     PUBMED; 16813600
RefAuthors      Nectoux, J., Heron, D., Tallot, M., Chelly, J., Bienvenu, 
RefAuthors      T.
RefTitle        Maternal origin of a novel C-terminal truncation mutation 
RefTitle        in CDKL5 causing a severe atypical form of Rett syndrome.
RefLoc          Clin Genet 70:29-33
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 159742
Feature           /change: a -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 774
Feature           /codon: aga -> agt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 175
Feature           /change: R -> S
Feature           /domain: PK
Diagnosis       Severe mental retardation
Diagnosis       Epileptic Encephalopathy-2
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              CDKL5_I72N(1); standard; MUTATION; PK
Accession       K01277
Systematic name g.150841T>A, c.215T>A, r.215u>a, p.Ile72Asn
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED; 16015284
RefAuthors      Evans, J. C., Archer, H. L., Colley, J. P., Ravn, K., 
RefAuthors      Nielsen, J. B., Kerr, A., Williams, E., Christodoulou, J., 
RefAuthors      Gecz, J., Jardine, P. E., Wright, M. J., Pilz, D. T., 
RefAuthors      Lazarou, L., Cooper, D. N., Sampson, J. R., Butler, R., 
RefAuthors      Whatley, S. D., Clarke, A. J.
RefTitle        Early onset seizures and Rett-like features associated 
RefTitle        with mutations in CDKL5.
RefLoc          Eur J Hum Genet 13:1113-20
RefNumber       [8]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150841
Feature           /change: t -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 464
Feature           /codon: att -> aat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 72
Feature           /change: I -> N
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_#E55X74(1); standard; MUTATION; PK
Accession       K01278
Systematic name g.150789delG, c.163delG, r.163delg, p.Glu55fsX20
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [9]
RefCrossRef     PUBMED;     15689447
RefAuthors      Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, 
RefAuthors      C., Longo, I., Meloni, I., Giachino, D., Bruttini, M., 
RefAuthors      Hayek, G., Zappella, M., Renieri, A.
RefTitle        CDKL5/STK9 is mutated in Rett syndrome variant with 
RefTitle        infantile spasms.
RefLoc          J Med Genet 42:103-7
RefNumber       [10]
RefCrossRef     PUBMED; 16015284
RefAuthors      Evans, J. C., Archer, H. L., Colley, J. P., Ravn, K., 
RefAuthors      Nielsen, J. B., Kerr, A., Williams, E., Christodoulou, J., 
RefAuthors      Gecz, J., Jardine, P. E., Wright, M. J., Pilz, D. T., 
RefAuthors      Lazarou, L., Cooper, D. N., Sampson, J. R., Butler, R., 
RefAuthors      Whatley, S. D., Clarke, A. J.
RefTitle        Early onset seizures and Rett-like features associated 
RefTitle        with mutations in CDKL5.
RefLoc          Eur J Hum Genet 13:1113-20
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150789
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 412
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 55
Feature           /change: E -> KRLYESLKCF GLSSRKTLWS X
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_#L61X75(1); standard; MUTATION; PK
Accession       K01279
Systematic name g.150809delT, c.183delT, r.183delu, p.Met63fsX12
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [11]
RefCrossRef     PUBMED; 16015284
RefAuthors      Evans, J. C., Archer, H. L., Colley, J. P., Ravn, K., 
RefAuthors      Nielsen, J. B., Kerr, A., Williams, E., Christodoulou, J., 
RefAuthors      Gecz, J., Jardine, P. E., Wright, M. J., Pilz, D. T., 
RefAuthors      Lazarou, L., Cooper, D. N., Sampson, J. R., Butler, R., 
RefAuthors      Whatley, S. D., Clarke, A. J.
RefTitle        Early onset seizures and Rett-like features associated 
RefTitle        with mutations in CDKL5.
RefLoc          Eur J Hum Genet 13:1113-20
RefNumber       [12]
RefCrossRef     PUBMED;     15492925
RefAuthors      Weaving, L. S., Christodoulou, J., Williamson, S. L., 
RefAuthors      Friend, K. L., McKenzie, O. L., Archer, H., Evans, J., 
RefAuthors      Clarke, A., Pelka, G. J., Tam, P. P., Watson, C., Lahooti, 
RefAuthors      H., Ellaway, C. J., Bennetts, B., Leonard, H., Gecz, J.
RefTitle        Mutations of CDKL5 cause a severe neurodevelopmental 
RefTitle        disorder with infantile spasms and mental retardation.
RefLoc          Am J Hum Genet 75:1079-93
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150809
Feature           /change: -t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 432
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 61
Feature           /change: L -> LKCFGLSSRK TLWSX
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Diagnosis       Severe mental retardation
Diagnosis       X-linked infantile spasm syndrome (ISSX)
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              CDKL5_P180L(1); standard; MUTATION; PK
Accession       K01280
Systematic name g.159756C>T, c.539C>T, r.539c>u, p.Pro180Leu
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [13]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
RefNumber       [14]
RefCrossRef     PUBMED;     16611748
RefAuthors      Archer, H. L., Evans, J., Edwards, S., Colley, J., Newbury-
RefAuthors      Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., 
RefAuthors      Tolmie, J., Sampson, J., Clarke, A., Osborne, J.
RefTitle        CDKL5 mutations cause infantile spasms, early onset 
RefTitle        seizures, and severe mental retardation in female 
RefTitle        patients.
RefLoc          J Med Genet 43:729-34
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 159756
Feature           /change: c -> t
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 788
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 180
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_R59X(1); standard; MUTATION; PK
Accession       K01281
Systematic name g.150801C>T, c.175C>T, r.175c>u, p.Arg59X
Description     A point mutation in the exon 6 leading to a premature stop
Description     codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [15]
RefCrossRef     PUBMED;     16611748
RefAuthors      Archer, H. L., Evans, J., Edwards, S., Colley, J., Newbury-
RefAuthors      Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., 
RefAuthors      Tolmie, J., Sampson, J., Clarke, A., Osborne, J.
RefTitle        CDKL5 mutations cause infantile spasms, early onset 
RefTitle        seizures, and severe mental retardation in female 
RefTitle        patients.
RefLoc          J Med Genet 43:729-34
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150801
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 424
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 59
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Severe mental retardation
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Infantile Spasms
//
ID              CDKL5_A40V(1); standard; MUTATION; PK
Accession       K01282
Systematic name g.139914C>T, c.119C>T, r.119c>u, p.Ala40Val
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [16]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
RefNumber       [17]
RefCrossRef     PUBMED; 17993579
RefAuthors      Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, 
RefAuthors      J., Girard, B., N'Guyen Morel, M. A., Gitiaux, C., Lazaro, 
RefAuthors      L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T.
RefTitle        Impairment of CDKL5 nuclear localisation as a cause for 
RefTitle        severe infantile encephalopathy.
RefLoc          J Med Genet 45:172-8
RefNumber       [26]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 139914
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 368
Feature           /codon: gcg -> gtg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 40
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Epileptic Encephalopathy-2
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
Comment         -!-Infantile Spasms                                           
Comment         -!-  Mental Retardation
//
ID              CDKL5_R65Q(1); standard; MUTATION; PK
Accession       K01283
Systematic name g.150820G>A, c.194G>A, r.194g>a, p.Arg65Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [18]
RefCrossRef     PUBMED; 17993579
RefAuthors      Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, 
RefAuthors      J., Girard, B., N'Guyen Morel, M. A., Gitiaux, C., Lazaro, 
RefAuthors      L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T.
RefTitle        Impairment of CDKL5 nuclear localisation as a cause for 
RefTitle        severe infantile encephalopathy.
RefLoc          J Med Genet 45:172-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150820
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 443
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 65
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Epileptic Encephalopathy-2
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Infantile Spasms                                           
Comment         -!-  Mental Retardation                                       
Comment         -!-    Nucleotide change should be g>a instead of c>a
//
ID              CDKL5_L220P(1); standard; MUTATION; PK
Accession       K01284
Systematic name g.163476T>C, c.659T>C, r.659u>c, p.Leu220Pro
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [18]
RefCrossRef     PUBMED; 17993579
RefAuthors      Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, 
RefAuthors      J., Girard, B., N'Guyen Morel, M. A., Gitiaux, C., Lazaro, 
RefAuthors      L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T.
RefTitle        Impairment of CDKL5 nuclear localisation as a cause for 
RefTitle        severe infantile encephalopathy.
RefLoc          J Med Genet 45:172-8
RefNumber       [19]
RefCrossRef     PUBMED; 19396824
RefAuthors      Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., 
RefAuthors      Marchi, M., Riva, D.
RefTitle        A CDKL5 mutated child with precocious puberty.
RefLoc          Am J Med Genet A 149A:1046-51
RefNumber       [26]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 163476
Feature           /change: t -> c
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 908
Feature           /codon: ctt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 220
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Epileptic Encephalopathy-2
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Comment         -!-Infantile Spasms                                           
Comment         -!-  Mental Retardation
//
ID              CDKL5_I72I(1); standard; MUTATION; PK
Accession       K01285
Systematic name g.150842T>A, c.216T>A, r.216u>a, p.Ile72Ile
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [20]
RefCrossRef     PUBMED;     17089071
RefAuthors      Li, M. R., Pan, H., Bao, X. H., Zhang, Y. Z., Wu, X. R.
RefTitle        MECP2 and CDKL5 gene mutation analysis in Chinese patients 
RefTitle        with Rett syndrome.
RefLoc          J Hum Genet 52:38-47
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150842
Feature           /change: t -> a
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 465
Feature           /codon: att -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 72
Feature           /change: I -> I
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_C291Y(1); standard; MUTATION; PK
Accession       K01287
Systematic name g.173926G>A, c.872G>A, r.872g>a, p.Cys291Tyr
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [21]
RefCrossRef     PUBMED; 18809835
RefAuthors      Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, 
RefAuthors      M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo 
RefAuthors      Giudice, M., Fichera, M.
RefTitle        CDKL5 mutations in boys with severe encephalopathy and 
RefTitle        early-onset intractable epilepsy.
RefLoc          Neurology 71:997-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 173926
Feature           /change: g -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1121
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 291
Feature           /change: C -> Y
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Diagnosis       Epileptic Encephalopathy-2
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              CDKL5_T288I(1); standard; MUTATION; PK
Accession       K01288
Systematic name g.173917C>T, c.863C>T, r.863c>u, p.Thr288Ile
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [22]
RefCrossRef     PUBMED; 18809835
RefAuthors      Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, 
RefAuthors      M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo 
RefAuthors      Giudice, M., Fichera, M.
RefTitle        CDKL5 mutations in boys with severe encephalopathy and 
RefTitle        early-onset intractable epilepsy.
RefLoc          Neurology 71:997-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 173917
Feature           /change: c -> t
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1112
Feature           /codon: aca -> ata; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 288
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Epileptic Encephalopathy-2
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_R178P(1); standard; MUTATION; PK
Accession       K01289
Systematic name g.159750G>C, c.533G>C, r.533g>c, p.Arg178Pro
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [22]
RefCrossRef     PUBMED; 18809835
RefAuthors      Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, 
RefAuthors      M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo 
RefAuthors      Giudice, M., Fichera, M.
RefTitle        CDKL5 mutations in boys with severe encephalopathy and 
RefTitle        early-onset intractable epilepsy.
RefLoc          Neurology 71:997-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 159750
Feature           /change: g -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 782
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 178
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       Epileptic Encephalopathy-2
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_Q118X(1); standard; MUTATION; PK
Accession       K01290
Systematic name g.155335C>T, c.352C>T, r.352c>u, p.Gln118X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [24]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 155335
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 601
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 118
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_L142X(1); standard; MUTATION; PK
Accession       K01291
Systematic name g.157330T>A, c.425T>A, r.425u>a, p.Leu142X
Description     A point mutation in the exon 8 leading to a premature stop
Description     codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [24]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 157330
Feature           /change: t -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 674
Feature           /codon: tta -> taa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 142
Feature           /change: L -> X
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_#E77X111(1); standard; MUTATION; PK
Accession       K01292
Systematic name g.150855delG, c.229delG, r.229delg, p.Glu77fsX35
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [24]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150855
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 478
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 77
Feature           /change: E -> KHFVGGESCT WCLSMLKKIC SNCWKKCQME FHLRKX
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_#N267X271(1); standard; MUTATION; PK
Accession       K01293
Systematic name g.170821delA, c.800delA, r.800dela, p.Asn267fsX6
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [24]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 170821
Feature           /change: -a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1049
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 267
Feature           /change: N -> IVFYLTX
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_@E289X325(1); standard; MUTATION; PK
Accession       K01294
Systematic name g.173918dupA, c.864dupA, r.864dupa, p.Glu289fsX36
Description     A frame shift duplication mutation in the exon 12 leading
Description     to a premature stop codon in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [24]
RefCrossRef     PUBMED; 18790821
RefAuthors      Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., 
RefAuthors      Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, 
RefAuthors      A., Rio, M., Heron, D., N'guyen Morel, M. A., 
RefAuthors      Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., 
RefAuthors      Bienvenu, T.
RefTitle        Key clinical features to identify girls with CDKL5 
RefTitle        mutations.
RefLoc          Brain 131:2647-61
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 173919
Feature           /change: +a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1114
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 289
Feature           /change: E -> RTVFESPYIS NPETSGSFSF KVSKKKTLPC GKQHIVX
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              CDKL5_H127R(1); standard; MUTATION; PK
Accession       K01295
Systematic name g.155363A>G, c.380A>G, r.380a>g, p.His127Arg
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [25]
RefCrossRef     PUBMED; 19241098
RefAuthors      Russo, S., Marchi, M., Cogliati, F., Bonati, M. T., 
RefAuthors      Pintaudi, M., Veneselli, E., Saletti, V., Balestrini, M., 
RefAuthors      Ben-Zeev, B., Larizza, L.
RefTitle        Novel mutations in the CDKL5 gene, predicted effects and 
RefTitle        associated phenotypes.
RefLoc          Neurogenetics 10:241-50
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 155363
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 629
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CDKL5_HUMAN: 127
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       Rett syndrome (RTT)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_V600E(1); standard; MUTATION; PK
Accession       K01296
Systematic name g.172429T>A, c.1799T>A, r.1799u>a, p.Val600Glu
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [26]
RefCrossRef     PUBMED; 21326296
RefAuthors      Qi, R. Q., He, L., Zheng, S., Hong, Y., Ma, L., Zhang, S., 
RefAuthors      Zhao, L., Guo, X., Wang, Y., Yu, J. Y., Fu, L., Zhang, W., 
RefAuthors      Long, T., Zhang, C., Chen, G., Lin, J., Wang, C., Zhou, 
RefAuthors      L., Mi, Q., Weiland, M., Chen, J. Z., McHenga, S. S., 
RefAuthors      Wang, Y. K., McHepange, U., Wang, Z., Chen, H. D., Gao, X. 
RefAuthors      H.
RefTitle        BRAF exon 15 T1799A mutation is common in melanocytic 
RefTitle        nevi, but less prevalent in cutaneous malignant melanoma, 
RefTitle        in Chinese Han.
RefLoc          J Invest Dermatol 131:1129-38
RefNumber       [28]
RefCrossRef     PUBMED; 21663470
RefAuthors      Tiacci, E., Trifonov, V., Schiavoni, G., Holmes, A., Kern, 
RefAuthors      W., Martelli, M. P., Pucciarini, A., Bigerna, B., Pacini, 
RefAuthors      R., Wells, V. A., Sportoletti, P., Pettirossi, V., 
RefAuthors      Mannucci, R., Elliott, O., Liso, A., Ambrosetti, A., 
RefAuthors      Pulsoni, A., Forconi, F., Trentin, L., Semenzato, G., 
RefAuthors      Inghirami, G., Capponi, M., Di Raimondo, F., Patti, C., 
RefAuthors      Arcaini, L., Musto, P., Pileri, S., Haferlach, C., 
RefAuthors      Schnittger, S., Pizzolo, G., Foa, R., Farinelli, L., 
RefAuthors      Haferlach, T., Pasqualucci, L., Rabadan, R., Falini, B.
RefTitle        BRAF mutations in hairy-cell leukemia.
RefLoc          N Engl J Med 364:2305-15
RefNumber       [30]
RefCrossRef     PUBMED; 20496269
RefAuthors      Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., 
RefAuthors      Tomaszewska, R.
RefTitle        BRAF mutations in sporadic colorectal carcinoma from 
RefTitle        polish patients.
RefLoc          Pol J Pathol 61:23-6
RefNumber       [34]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429
Feature           /change: t -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860
Feature           /codon: gtg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 600
Feature           /change: V -> E
Feature           /domain: PK
Diagnosis       Malignant melanoma
Diagnosis       Colorectal cancer
Diagnosis       Thyroid carcinoma
Occurrence      Families: 50; Patients: 50; Homozygotes: 0
Comment         -!-Hairy cell Leukemia
//
ID              BRAF_K601N(1); standard; MUTATION; PK
Accession       K01297
Systematic name g.172433A>T, c.1803A>T, r.1803a>u, p.Lys601Asn
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 20496269
RefAuthors      Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., 
RefAuthors      Tomaszewska, R.
RefTitle        BRAF mutations in sporadic colorectal carcinoma from 
RefTitle        polish patients.
RefLoc          Pol J Pathol 61:23-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172433
Feature           /change: a -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1864
Feature           /codon: aaa -> aat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 601
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Colorectal cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_G596R(1); standard; MUTATION; PK
Accession       K01298
Systematic name g.172416G>C, c.1786G>C, r.1786g>c, p.Gly596Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 20496269
RefAuthors      Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., 
RefAuthors      Tomaszewska, R.
RefTitle        BRAF mutations in sporadic colorectal carcinoma from 
RefTitle        polish patients.
RefLoc          Pol J Pathol 61:23-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172416
Feature           /change: g -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1847
Feature           /codon: ggt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 596
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Colorectal cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_D594G(1); standard; MUTATION; PK
Accession       K01299
Systematic name g.172411A>G, c.1781A>G, r.1781a>g, p.Asp594Gly
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 20496269
RefAuthors      Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., 
RefAuthors      Tomaszewska, R.
RefTitle        BRAF mutations in sporadic colorectal carcinoma from 
RefTitle        polish patients.
RefLoc          Pol J Pathol 61:23-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172411
Feature           /change: a -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1842
Feature           /codon: gat -> ggt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 594
Feature           /change: D -> G
Feature           /domain: PK
Diagnosis       Colorectal cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_G469A(1); standard; MUTATION; PK
Accession       K01300
Systematic name g.144163G>C, c.1406G>C, r.1406g>c, p.Gly469Ala
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [28]
RefCrossRef     PUBMED; 20496269
RefAuthors      Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., 
RefAuthors      Tomaszewska, R.
RefTitle        BRAF mutations in sporadic colorectal carcinoma from 
RefTitle        polish patients.
RefLoc          Pol J Pathol 61:23-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144163
Feature           /change: g -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1467
Feature           /codon: gga -> gca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 469
Feature           /change: G -> A
Feature           /domain: PK
Diagnosis       Colorectal cancer
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_F468S(1); standard; MUTATION; PK
Accession       K01301
Systematic name g.144160T>C, c.1403T>C, r.1403u>c, p.Phe468Ser
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [29]
RefCrossRef     PUBMED; 20859831
RefAuthors      Demir, E., Mancano, G., Pomponi, M. G., Ozcelik, A., 
RefAuthors      Gucuyener, K., Neri, G.
RefTitle        Cardio-facio-cutaneous syndrome: phenotypic variability 
RefTitle        and differential diagnosis in 3 cases with de novo BRAF 
RefTitle        mutations.
RefLoc          Neuropediatrics 41:127-31
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144160
Feature           /change: t -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1464
Feature           /codon: ttt -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 468
Feature           /change: F -> S
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_E501K(1); standard; MUTATION; PK
Accession       K01302
Systematic name g.147758G>A, c.1501G>A, r.1501g>a, p.Glu501Lys
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [29]
RefCrossRef     PUBMED; 20859831
RefAuthors      Demir, E., Mancano, G., Pomponi, M. G., Ozcelik, A., 
RefAuthors      Gucuyener, K., Neri, G.
RefTitle        Cardio-facio-cutaneous syndrome: phenotypic variability 
RefTitle        and differential diagnosis in 3 cases with de novo BRAF 
RefTitle        mutations.
RefLoc          Neuropediatrics 41:127-31
RefNumber       [3]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147758
Feature           /change: g -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1562
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 501
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BRAF_D638E(1); standard; MUTATION; PK
Accession       K01303
Systematic name g.176400T>A, c.1914T>A, r.1914u>a, p.Asp638Glu
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [29]
RefCrossRef     PUBMED; 20859831
RefAuthors      Demir, E., Mancano, G., Pomponi, M. G., Ozcelik, A., 
RefAuthors      Gucuyener, K., Neri, G.
RefTitle        Cardio-facio-cutaneous syndrome: phenotypic variability 
RefTitle        and differential diagnosis in 3 cases with de novo BRAF 
RefTitle        mutations.
RefLoc          Neuropediatrics 41:127-31
RefNumber       [3]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 176400
Feature           /change: t -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1975
Feature           /codon: gat -> gaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 638
Feature           /change: D -> E
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BRAF_V600L(1); standard; MUTATION; PK
Accession       K01304
Systematic name g.172428G>T, c.1798G>T, r.1798g>u, p.Val600Leu
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [30]
RefCrossRef     PUBMED; 19404918
RefAuthors      Boulalas, I., Zaravinos, A., Delakas, D., Spandidos, D. A.
RefTitle        Mutational analysis of the BRAF gene in transitional cell 
RefTitle        carcinoma of the bladder.
RefLoc          Int J Biol Markers 24:17-21
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172428
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1859
Feature           /codon: gtg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 600
Feature           /change: V -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Cell carcinoma of the bladder
//
ID              MAP2K1_P124L(1); standard; MUTATION; PK
Accession       K01305
Systematic name g.51009C>T, c.371C>T, r.371c>u, p.Pro124Leu
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [32]
RefCrossRef     PUBMED; 18632602
RefAuthors      Marks, J. L., Gong, Y., Chitale, D., Golas, B., McLellan, 
RefAuthors      M. D., Kasai, Y., Ding, L., Mardis, E. R., Wilson, R. K., 
RefAuthors      Solit, D., Levine, R., Michel, K., Thomas, R. K., Rusch, 
RefAuthors      V. W., Ladanyi, M., Pao, W.
RefTitle        Novel MEK1 mutation identified by mutational analysis of 
RefTitle        epidermal growth factor receptor signaling pathway genes 
RefTitle        in lung adenocarcinoma.
RefLoc          Cancer Res 68:5524-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:15:66678155:66784882:1: 51009
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002755.3; GI:5579478; NM_002755.3: 846
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MP2K1_HUMAN: 124
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneous Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MAP2K1_G128V(1); standard; MUTATION; PK
Accession       K01306
Systematic name g.51021G>T, c.383G>T, r.383g>u, p.Gly128Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [32]
RefCrossRef     PUBMED; 18632602
RefAuthors      Marks, J. L., Gong, Y., Chitale, D., Golas, B., McLellan, 
RefAuthors      M. D., Kasai, Y., Ding, L., Mardis, E. R., Wilson, R. K., 
RefAuthors      Solit, D., Levine, R., Michel, K., Thomas, R. K., Rusch, 
RefAuthors      V. W., Ladanyi, M., Pao, W.
RefTitle        Novel MEK1 mutation identified by mutational analysis of 
RefTitle        epidermal growth factor receptor signaling pathway genes 
RefTitle        in lung adenocarcinoma.
RefLoc          Cancer Res 68:5524-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:15:66678155:66784882:1: 51021
Feature           /change: g -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002755.3; GI:5579478; NM_002755.3: 858
Feature           /codon: ggc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MP2K1_HUMAN: 128
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneous Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MAP2K1_Y130C(1); standard; MUTATION; PK
Accession       K01307
Systematic name g.51027A>G, c.389A>G, r.389a>g, p.Tyr130Cys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [32]
RefCrossRef     PUBMED; 18632602
RefAuthors      Marks, J. L., Gong, Y., Chitale, D., Golas, B., McLellan, 
RefAuthors      M. D., Kasai, Y., Ding, L., Mardis, E. R., Wilson, R. K., 
RefAuthors      Solit, D., Levine, R., Michel, K., Thomas, R. K., Rusch, 
RefAuthors      V. W., Ladanyi, M., Pao, W.
RefTitle        Novel MEK1 mutation identified by mutational analysis of 
RefTitle        epidermal growth factor receptor signaling pathway genes 
RefTitle        in lung adenocarcinoma.
RefLoc          Cancer Res 68:5524-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:15:66678155:66784882:1: 51027
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002755.3; GI:5579478; NM_002755.3: 864
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MP2K1_HUMAN: 130
Feature           /change: Y -> C
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneous Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              MAP2K2_P128Q(1); standard; MUTATION; PK
Accession       K01308
Systematic name g.14553C>A, c.383C>A, r.383c>a, p.Pro128Gln
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [33]
RefCrossRef     PUBMED; 20358587
RefAuthors      Rauen, K. A., Tidyman, W. E., Estep, A. L., Sampath, S., 
RefAuthors      Peltier, H. M., Bale, S. J., Lacassie, Y.
RefTitle        Molecular and functional analysis of a novel MEK2 mutation 
RefTitle        in cardio-facio-cutaneous syndrome: transmission through 
RefTitle        four generations.
RefLoc          Am J Med Genet A 152A:807-14
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:19:4089319:4125126:-1: 14553
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_030662.3; GI:13489054; NM_030662.3: 637
Feature           /codon: ccg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: MP2K2_HUMAN: 128
Feature           /change: P -> Q
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneous syndrome (CFC syndrome)
Occurrence      Families: 1; Patients: 9; Homozygotes: 0
//
ID              BRAF_G464E(1); standard; MUTATION; PK
Accession       K01309
Systematic name g.144148G>A, c.1391G>A, r.1391g>a, p.Gly464Glu
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19190079
RefAuthors      Kotoula, V., Sozopoulos, E., Litsiou, H., Fanourakis, G., 
RefAuthors      Koletsa, T., Voutsinas, G., Tseleni-Balafouta, S., 
RefAuthors      Mitsiades, C. S., Wellmann, A., Mitsiades, N.
RefTitle        Mutational analysis of the BRAF, RAS and EGFR genes in 
RefTitle        human adrenocortical carcinomas.
RefLoc          Endocr Relat Cancer 16:565-72
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144148
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1452
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 464
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Adenocarcinoma of lung
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_E501G(1); standard; MUTATION; PK
Accession       K01310
Systematic name g.147759A>G, c.1502A>G, r.1502a>g, p.Glu501Gly
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 17483702
RefAuthors      Makita, Y., Narumi, Y., Yoshida, M., Niihori, T., Kure, 
RefAuthors      S., Fujieda, K., Matsubara, Y., Aoki, Y.
RefTitle        Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a 
RefTitle        patient with a germline mutation in BRAF proto-oncogene.
RefLoc          J Pediatr Hematol Oncol 29:287-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147759
Feature           /change: a -> g
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1563
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 501
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Leukemia in Cardio-facio-cutaneous(CFC)syndrome
//
ID              BRAF_G469E(1); standard; MUTATION; PK
Accession       K01311
Systematic name g.144163G>A, c.1406G>A, r.1406g>a, p.Gly469Glu
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 17483702
RefAuthors      Makita, Y., Narumi, Y., Yoshida, M., Niihori, T., Kure, 
RefAuthors      S., Fujieda, K., Matsubara, Y., Aoki, Y.
RefTitle        Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a 
RefTitle        patient with a germline mutation in BRAF proto-oncogene.
RefLoc          J Pediatr Hematol Oncol 29:287-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144163
Feature           /change: g -> a
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1467
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 469
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Leukemia in Cardio-facio-cutaneous(CFC)syndrome
//
ID              BRAF_F595L(1); standard; MUTATION; PK
Accession       K01312
Systematic name g.172415T>G, c.1785T>G, r.1785u>g, p.Phe595Leu
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172415
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1846
Feature           /codon: ttt -> ttg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 595
Feature           /change: F -> L
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_L597V(1); standard; MUTATION; PK
Accession       K01313
Systematic name g.172419C>G, c.1789C>G, r.1789c>g, p.Leu597Val
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172419
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1850
Feature           /codon: cta -> gta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 597
Feature           /change: L -> V
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Diagnosis       
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Noonan Syndrome
//
ID              BRAF_T599R(1); standard; MUTATION; PK
Accession       K01314
Systematic name g.172426C>G, c.1796C>G, r.1796c>g, p.Thr599Arg
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172426
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1857
Feature           /codon: aca -> aga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 599
Feature           /change: T -> R
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_K601Q(1); standard; MUTATION; PK
Accession       K01315
Systematic name g.172431A>C, c.1801A>C, r.1801a>c, p.Lys601Gln
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            29-Aug-2011 (Rel. 3, Created)
Date            29-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172431
Feature           /change: a -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1862
Feature           /codon: aaa -> caa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 601
Feature           /change: K -> Q
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_W531C(1); standard; MUTATION; PK
Accession       K01316
Systematic name g.148752G>C, c.1593G>C, r.1593g>c, p.Trp531Cys
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 148752
Feature           /change: g -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1654
Feature           /codon: tgg -> tgc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 531
Feature           /change: W -> C
Feature           /domain: PK
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
Comment         -!-Noonan Syndrome
//
ID              BRAF_L485F(1); standard; MUTATION; PK
Accession       K01317
Systematic name g.147712G>C, c.1455G>C, r.1455g>c, p.Leu485Phe
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147712
Feature           /change: g -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1516
Feature           /codon: ttg -> ttc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 485
Feature           /change: L -> F
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_K499N(1); standard; MUTATION; PK
Accession       K01318
Systematic name g.147754A>C, c.1497A>C, r.1497a>c, p.Lys499Asn
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147754
Feature           /change: a -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1558
Feature           /codon: aaa -> aac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 499
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_L525P(1); standard; MUTATION; PK
Accession       K01319
Systematic name g.148733T>C, c.1574T>C, r.1574u>c, p.Leu525Pro
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 148733
Feature           /change: t -> c
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1635
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 525
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_D638E(2); standard; MUTATION; PK
Accession       K01320
Systematic name g.176400T>G, c.1914T>G, r.1914u>g, p.Asp638Glu
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 176400
Feature           /change: t -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1975
Feature           /codon: gat -> gag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 638
Feature           /change: D -> E
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_Q709R(1); standard; MUTATION; PK
Accession       K01321
Systematic name g.185952A>G, c.2126A>G, r.2126a>g, p.Gln709Arg
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 19206169
RefAuthors      Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, 
RefAuthors      M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., 
RefAuthors      Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., 
RefAuthors      Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., 
RefAuthors      Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., 
RefAuthors      Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., 
RefAuthors      Gelb, B. D., Dallapiccola, B., Tartaglia, M.
RefTitle        Germline BRAF mutations in Noonan, LEOPARD, and 
RefTitle        cardiofaciocutaneous syndromes: molecular diversity and 
RefTitle        associated phenotypic spectrum.
RefLoc          Hum Mutat 30:695-702
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 185952
Feature           /change: a -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 2187
Feature           /codon: caa -> cga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 709
Feature           /change: Q -> R
Feature           /domain: PK
Diagnosis       Cardiofaciocutaneus Syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-The Patient exhibited severe neonatal feeding
Comment         -!-difficulties,typical facial dysmorphisms, ectodermal
Comment         -!-anomalies associated with normal growth and cognitive
Comment         -!-development.
//
ID              BRAF_Q612X(1); standard; MUTATION; PK
Accession       K01322
Systematic name g.172464C>T, c.1834C>T, r.1834c>u, p.Gln612X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172464
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1895
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 612
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_A598V(1); standard; MUTATION; PK
Accession       K01323
Systematic name g.172423C>T, c.1793C>T, r.1793c>u, p.Ala598Val
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172423
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1854
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 598
Feature           /change: A -> V
Feature           /domain: PK
Diagnosis       Thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_T599I(1); standard; MUTATION; PK
Accession       K01324
Systematic name g.172426C>T, c.1796C>T, r.1796c>u, p.Thr599Ile
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172426
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1857
Feature           /codon: aca -> ata; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 599
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_@V600+1(1); standard; MUTATION; PK
Accession       K01325
Systematic name g.172428_172429insC, c.1798_1799insC, r.1798_1799insc,
Systematic name p.Val600fsX11
Description     A frame shift insertion mutation in the exon 15 leading to
Description     a premature stop codon in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429
Feature           /change: +c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 600
Feature           /change: V -> AEISMEWVPS VX
Feature           /domain: PK
Diagnosis       Thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_@V600X611(1); standard; MUTATION; PK
Accession       K01326
Systematic name g.172428_172429insA, c.1798_1799insA, r.1798_1799insa,
Systematic name p.Val600fsX11
Description     A frame shift insertion mutation in the exon 15 leading to
Description     a premature stop codon in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429
Feature           /change: +a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 600
Feature           /change: V -> DEISMEWVPS VX
Feature           /domain: PK
Diagnosis       Thyroid carcinoma
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BRAF_#V600-1(1); standard; MUTATION; PK
Accession       K01327
Systematic name g.172429delT, c.1799delT, r.1799delu, p.Val600fsX49
Description     A frame shift deletion mutation in the exon 15 leading to a
Description     premature stop codon in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19370421
RefAuthors      Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, 
RefAuthors      M., Seethala, R. R., Ohori, N. P., Nikiforov, Y.
RefTitle        A novel complex BRAF mutation detected in a solid variant 
RefTitle        of papillary thyroid carcinoma.
RefLoc          Endocr Pathol 20:122-6
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429
Feature           /change: -t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: BRAF_HUMAN: 600
Feature           /change: V -> 
Feature           /change: GNLDGVGPIS LNSCLDPFCG WHQKSSECKI KIHTAFSQMY
Feature           /change: MHLELFCMNX
Feature           /domain: PK
Diagnosis       Thyroid carcinoma
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
//
ID              ACVR1_H286D(1); standard; MUTATION; PK
Accession       K01328
Systematic name g.110732C>G, c.856C>G, r.856c>g, p.His286Asp
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 21248739
RefAuthors      Joziasse, I. C., Smith, K. A., Chocron, S., van Dinther, 
RefAuthors      M., Guryev, V., van de Smagt, J. J., Cuppen, E., Ten 
RefAuthors      Dijke, P., Mulder, B. J., Maslen, C. L., Reshey, B., 
RefAuthors      Doevendans, P. A., Bakkers, J.
RefTitle        ALK2 mutation in a patient with Down's syndrome and a 
RefTitle        congenital heart defect.
RefLoc          Eur J Hum Genet 19:389-93
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110732
Feature           /change: c -> g
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1286
Feature           /codon: cat -> gat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 286
Feature           /change: H -> D
Feature           /domain: PK
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-The father of the proband carries the ALK2 p.His286Asp and
Comment         -!-BMPR1A p.Glu414Lys mutation                                
Comment         -!-  Down's syndrome and Congenital heart defect
//
ID              ACVR1_G356D(1); standard; MUTATION; PK
Accession       K01329
Systematic name g.115786G>A, c.1067G>A, r.1067g>a, p.Gly356Asp
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED;     19085907
RefAuthors      Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, 
RefAuthors      D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., 
RefAuthors      Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., 
RefAuthors      Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., 
RefAuthors      Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, 
RefAuthors      E. M.
RefTitle        Classic and atypical fibrodysplasia ossificans 
RefTitle        progressiva (FOP) phenotypes are caused by mutations in 
RefTitle        the bone morphogenetic protein (BMP) type I receptor 
RefTitle        ACVR1.
RefLoc          Hum Mutat 30:379-90
RefNumber       [6]
RefCrossRef     PUBMED; 20736820
RefAuthors      Guo, H., Peng, D., Xu, M., Xue, J., Lu, L., Xu, X., Liu, 
RefAuthors      Y., Xiong, Z., Pan, Q., Hu, Z., Xia, K.
RefTitle        Report of two FOP cases with 617G>A mutation in the ACVR1 
RefTitle        gene from Chinese population.
RefLoc          Clin Dysmorphol 19:206-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 115786
Feature           /change: g -> a
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1497
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 356
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              ACVR1_G328R(1); standard; MUTATION; PK
Accession       K01330
Systematic name g.110858G>A, c.982G>A, r.982g>a, p.Gly328Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED;     19085907
RefAuthors      Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, 
RefAuthors      D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., 
RefAuthors      Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., 
RefAuthors      Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., 
RefAuthors      Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, 
RefAuthors      E. M.
RefTitle        Classic and atypical fibrodysplasia ossificans 
RefTitle        progressiva (FOP) phenotypes are caused by mutations in 
RefTitle        the bone morphogenetic protein (BMP) type I receptor 
RefTitle        ACVR1.
RefLoc          Hum Mutat 30:379-90
RefNumber       [6]
RefCrossRef     PUBMED; 20736820
RefAuthors      Guo, H., Peng, D., Xu, M., Xue, J., Lu, L., Xu, X., Liu, 
RefAuthors      Y., Xiong, Z., Pan, Q., Hu, Z., Xia, K.
RefTitle        Report of two FOP cases with 617G>A mutation in the ACVR1 
RefTitle        gene from Chinese population.
RefLoc          Clin Dysmorphol 19:206-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110858
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1412
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 328
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              ACVR1_G328R(2); standard; MUTATION; PK
Accession       K01331
Systematic name g.110858G>C, c.982G>C, r.982g>c, p.Gly328Arg
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED;     19085907
RefAuthors      Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, 
RefAuthors      D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., 
RefAuthors      Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., 
RefAuthors      Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., 
RefAuthors      Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, 
RefAuthors      E. M.
RefTitle        Classic and atypical fibrodysplasia ossificans 
RefTitle        progressiva (FOP) phenotypes are caused by mutations in 
RefTitle        the bone morphogenetic protein (BMP) type I receptor 
RefTitle        ACVR1.
RefLoc          Hum Mutat 30:379-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110858
Feature           /change: g -> c
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1412
Feature           /codon: ggg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 328
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVR1_G328W(1); standard; MUTATION; PK
Accession       K01332
Systematic name g.110858G>T, c.982G>T, r.982g>u, p.Gly328Trp
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [7]
RefCrossRef     PUBMED;     19085907
RefAuthors      Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, 
RefAuthors      D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., 
RefAuthors      Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., 
RefAuthors      Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., 
RefAuthors      Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, 
RefAuthors      E. M.
RefTitle        Classic and atypical fibrodysplasia ossificans 
RefTitle        progressiva (FOP) phenotypes are caused by mutations in 
RefTitle        the bone morphogenetic protein (BMP) type I receptor 
RefTitle        ACVR1.
RefLoc          Hum Mutat 30:379-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110858
Feature           /change: g -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1412
Feature           /codon: ggg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 328
Feature           /change: G -> W
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              ACVR1_G328E(1); standard; MUTATION; PK
Accession       K01333
Systematic name g.110859G>A, c.983G>A, r.983g>a, p.Gly328Glu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [7]
RefCrossRef     PUBMED;     19085907
RefAuthors      Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, 
RefAuthors      D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., 
RefAuthors      Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., 
RefAuthors      Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., 
RefAuthors      Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, 
RefAuthors      E. M.
RefTitle        Classic and atypical fibrodysplasia ossificans 
RefTitle        progressiva (FOP) phenotypes are caused by mutations in 
RefTitle        the bone morphogenetic protein (BMP) type I receptor 
RefTitle        ACVR1.
RefLoc          Hum Mutat 30:379-90
RefNumber       [10]
RefCrossRef     PUBMED; 19796185
RefAuthors      Carvalho, D. R., Navarro, M. M., Martins, B. J., Coelho, 
RefAuthors      K. E., Mello, W. D., Takata, R. I., Speck-Martins, C. E.
RefTitle        Mutational screening of ACVR1 gene in Brazilian 
RefTitle        fibrodysplasia ossificans progressiva patients.
RefLoc          Clin Genet 77:171-6
RefNumber       [12]
RefCrossRef     PUBMED; 19330033
RefAuthors      Petrie, K. A., Lee, W. H., Bullock, A. N., Pointon, J. J., 
RefAuthors      Smith, R., Russell, R. G., Brown, M. A., Wordsworth, B. 
RefAuthors      P., Triffitt, J. T.
RefTitle        Novel mutations in ACVR1 result in atypical features in 
RefTitle        two fibrodysplasia ossificans progressiva patients.
RefLoc          PLoS One 4:e5005
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110859
Feature           /change: g -> a
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1413
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 328
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 4; Patients: 6; Homozygotes: 0
//
ID              ACVR1_R375P(1); standard; MUTATION; PK
Accession       K01334
Systematic name g.115843G>C, c.1124G>C, r.1124g>c, p.Arg375Pro
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [7]
RefCrossRef     PUBMED;     19085907
RefAuthors      Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, 
RefAuthors      D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., 
RefAuthors      Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., 
RefAuthors      Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., 
RefAuthors      Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, 
RefAuthors      E. M.
RefTitle        Classic and atypical fibrodysplasia ossificans 
RefTitle        progressiva (FOP) phenotypes are caused by mutations in 
RefTitle        the bone morphogenetic protein (BMP) type I receptor 
RefTitle        ACVR1.
RefLoc          Hum Mutat 30:379-90
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 115843
Feature           /change: g -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1554
Feature           /codon: cgt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 375
Feature           /change: R -> P
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVR1_R258S(1); standard; MUTATION; PK
Accession       K01335
Systematic name g.106479G>T, c.774G>T, r.774g>u, p.Arg258Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 19795179
RefAuthors      Ratbi, I., Borcciadi, R., Regragui, A., Ravazzolo, R., 
RefAuthors      Sefiani, A.
RefTitle        Rarely occurring mutation of ACVR1 gene in Moroccan 
RefTitle        patient with fibrodysplasia ossificans progressiva.
RefLoc          Clin Rheumatol 29:119-21
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 106479
Feature           /change: g -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1204
Feature           /codon: agg -> agt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 258
Feature           /change: R -> S
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVR1_R258S(2); standard; MUTATION; PK
Accession       K01336
Systematic name g.106479G>C, c.774G>C, r.774g>c, p.Arg258Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [11]
RefCrossRef     PUBMED; 18830232
RefAuthors      Bocciardi, R., Bordo, D., Di Duca, M., Di Rocco, M., 
RefAuthors      Ravazzolo, R.
RefTitle        Mutational analysis of the ACVR1 gene in Italian patients 
RefTitle        affected with fibrodysplasia ossificans progressiva: 
RefTitle        confirmations and advancements.
RefLoc          Eur J Hum Genet 17:311-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 106479
Feature           /change: g -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1204
Feature           /codon: agg -> agc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ACVR1_HUMAN: 258
Feature           /change: R -> S
Feature           /domain: PK
Diagnosis       FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              BMPR1A_E415K(1); standard; MUTATION; PK
Accession       K01337
Systematic name g.165949G>A, c.1243G>A, r.1243g>a, p.Glu415Lys
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 21248739
RefAuthors      Joziasse, I. C., Smith, K. A., Chocron, S., van Dinther, 
RefAuthors      M., Guryev, V., van de Smagt, J. J., Cuppen, E., Ten 
RefAuthors      Dijke, P., Mulder, B. J., Maslen, C. L., Reshey, B., 
RefAuthors      Doevendans, P. A., Bakkers, J.
RefTitle        ALK2 mutation in a patient with Down's syndrome and a 
RefTitle        congenital heart defect.
RefLoc          Eur J Hum Genet 19:389-93
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: BMPR1A_DNA: 165949
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: Z22535; GI:547778; HSALK3A: 1552
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BMRA_HUMAN: 415
Feature           /change: E -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-Down's syndrome and congenital heart defect                
Comment         -!-  Both these two patients also carried other mutations.
//
ID              TGFBR1_R487W(1); standard; MUTATION; PK
Accession       K01338
Systematic name g.45123C>T, c.1459C>T, r.1459c>u, p.Arg487Trp
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 19542084
RefAuthors      Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., 
RefAuthors      Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, 
RefAuthors      S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, 
RefAuthors      J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. 
RefAuthors      M.
RefTitle        Analysis of multigenerational families with thoracic 
RefTitle        aortic aneurysms and dissections due to TGFBR1 or TGFBR2 
RefTitle        mutations.
RefLoc          J Med Genet 46:607-13
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 45123
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1535
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 487
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       THORACIC AORTIC ANEURYSMS
Occurrence      Families: 1; Patients: 15; Homozygotes: 0
//
ID              TGFBR1_L486S(1); standard; MUTATION; PK
Accession       K01339
Systematic name g.45121T>C, c.1457T>C, r.1457u>c, p.Leu486Ser
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 19542084
RefAuthors      Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., 
RefAuthors      Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, 
RefAuthors      S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, 
RefAuthors      J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. 
RefAuthors      M.
RefTitle        Analysis of multigenerational families with thoracic 
RefTitle        aortic aneurysms and dissections due to TGFBR1 or TGFBR2 
RefTitle        mutations.
RefLoc          J Med Genet 46:607-13
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 45121
Feature           /change: t -> c
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1533
Feature           /codon: ttg -> tcg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 486
Feature           /change: L -> S
Feature           /domain: PK
Diagnosis       THORACIC AORTIC ANEURYSMS
Occurrence      Families: 1; Patients: 9; Homozygotes: 0
//
ID              TGFBR1_H315R(1); standard; MUTATION; PK
Accession       K01340
Systematic name g.38545A>G, c.944A>G, r.944a>g, p.His315Arg
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            30-Aug-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 19542084
RefAuthors      Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., 
RefAuthors      Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, 
RefAuthors      S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, 
RefAuthors      J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. 
RefAuthors      M.
RefTitle        Analysis of multigenerational families with thoracic 
RefTitle        aortic aneurysms and dissections due to TGFBR1 or TGFBR2 
RefTitle        mutations.
RefLoc          J Med Genet 46:607-13
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 38545
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1020
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 315
Feature           /change: H -> R
Feature           /domain: PK
Diagnosis       THORACIC AORTIC ANEURYSMS
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              TGFBR1_G312S(1); standard; MUTATION; PK
Accession       K01341
Systematic name g.38535G>A, c.934G>A, r.934g>a, p.Gly312Ser
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            30-Aug-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 19542084
RefAuthors      Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., 
RefAuthors      Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, 
RefAuthors      S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, 
RefAuthors      J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. 
RefAuthors      M.
RefTitle        Analysis of multigenerational families with thoracic 
RefTitle        aortic aneurysms and dissections due to TGFBR1 or TGFBR2 
RefTitle        mutations.
RefLoc          J Med Genet 46:607-13
RefNumber       [2]
RefCrossRef     PUBMED; 16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 38535
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1010
Feature           /codon: ggt -> agt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 312
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       THORACIC AORTIC ANEURYSMS
Diagnosis       Marfan syndrome
Occurrence      Families: 2; Patients: 4; Homozygotes: 0
Comment         -!-Loeys-Dietz syndrome
//
ID              TGFBR1_S241L(1); standard; MUTATION; PK
Accession       K01342
Systematic name g.33877C>T, c.722C>T, r.722c>u, p.Ser241Leu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33877
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 798
Feature           /codon: tcg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 241
Feature           /change: S -> L
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Marfan Syndrome
//
ID              CASK_Y268H(1); standard; MUTATION; PK
Accession       K01343
Systematic name g.263996T>C, c.802T>C, r.802u>c, p.Tyr268His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19847910
RefAuthors      Hsueh, Y. P.
RefTitle        Calcium/calmodulin-dependent serine protein kinase and 
RefTitle        mental retardation.
RefLoc          Ann Neurol 66:438-43
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:41373187:41783716:-1: 263996
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001126054.2; GI:186700627; NM_001126054.2: 848
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CSKP_HUMAN: 268
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       mental retardation,X-linked
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-It should be T>C change in nucleotide position 802
//
ID              CASK_R28L(1); standard; MUTATION; PK
Accession       K01344
Systematic name g.71260G>T, c.83G>T, r.83g>u, p.Arg28Leu
Description     A point mutation in the exon 1 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [1]
RefCrossRef     PUBMED; 19847910
RefAuthors      Hsueh, Y. P.
RefTitle        Calcium/calmodulin-dependent serine protein kinase and 
RefTitle        mental retardation.
RefLoc          Ann Neurol 66:438-43
RefNumber       [3]
RefCrossRef     PUBMED; 19200522
RefAuthors      Piluso, G., D'Amico, F., Saccone, V., Bismuto, E., 
RefAuthors      Rotundo, I. L., Di Domenico, M., Aurino, S., Schwartz, C. 
RefAuthors      E., Neri, G., Nigro, V.
RefTitle        A missense mutation in CASK causes FG syndrome in an 
RefTitle        Italian family.
RefLoc          Am J Hum Genet 84:162-77
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:41373187:41783716:-1: 71260
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001126054.2; GI:186700627; NM_001126054.2: 129
Feature           /codon: cga -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: CSKP_HUMAN: 28
Feature           /change: R -> L
Feature           /domain: PK
Diagnosis       mental retardation,X-linked
Occurrence      Families: 6; Patients: 6; Homozygotes: 0
Comment         -!-Mutation found patients with FGS4
//
ID              TGFBR1_M253I(1); standard; MUTATION; PK
Accession       K01345
Systematic name g.33914G>A, c.759G>A, r.759g>a, p.Met253Ile
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [1]
RefCrossRef     PUBMED; 16799921
RefAuthors      Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, 
RefAuthors      A., Schmidtke, J., Arslan-Kirchner, M.
RefTitle        TGFBR1 and TGFBR2 mutations in patients with features of 
RefTitle        Marfan syndrome and Loeys-Dietz syndrome.
RefLoc          Hum Mutat 27:770-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33914
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 835
Feature           /codon: atg -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 253
Feature           /change: M -> I
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 5; Homozygotes: 0
Comment         -!-Loeys-Dietz syndrome
//
ID              TGFBR1_N267H(1); standard; MUTATION; PK
Accession       K01346
Systematic name g.33954A>C, c.799A>C, r.799a>c, p.Asn267His
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33954
Feature           /change: a -> c
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 875
Feature           /codon: aat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 267
Feature           /change: N -> H
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR1_R487Q(1); standard; MUTATION; PK
Accession       K01347
Systematic name g.45124G>A, c.1460G>A, r.1460g>a, p.Arg487Gln
Description     A point mutation in the exon 9 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 16791849
RefAuthors      Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., 
RefAuthors      Boileau, C., Berger, W., Steinmann, B.
RefTitle        Identification and in silico analyses of novel TGFBR1 and 
RefTitle        TGFBR2 mutations in Marfan syndrome-related disorders.
RefLoc          Hum Mutat 27:760-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 45124
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 9
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1536
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 487
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Marfan syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              TGFBR1_W242X(1); standard; MUTATION; PK
Accession       K01348
Systematic name g.33880G>A, c.725G>A, r.725g>a, p.Trp242X
Description     A point mutation in the exon 4 leading to a premature stop
Description     codon in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 21358634
RefAuthors      Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., 
RefAuthors      Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., 
RefAuthors      Coats, S. E., Stewart, A., Christie, L., Pichert, G., 
RefAuthors      Friedel, J., Hayes, I., Burrows, N., Whittaker, S., 
RefAuthors      Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., 
RefAuthors      Verma, C., Lunny, D. P., Reversade, B., Lane, E. B.
RefTitle        Multiple self-healing squamous epithelioma is caused by a 
RefTitle        disease-specific spectrum of mutations in TGFBR1.
RefLoc          Nat Genet 43:365-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33880
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 801
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 242
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Multiple self-healing squamous epithelioma
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              TGFBR1_#P327X334(1); standard; MUTATION; PK
Accession       K01349
Systematic name g.40609delC, c.980delC, r.980delc, p.Pro327fsX7
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 21358634
RefAuthors      Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., 
RefAuthors      Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., 
RefAuthors      Coats, S. E., Stewart, A., Christie, L., Pichert, G., 
RefAuthors      Friedel, J., Hayes, I., Burrows, N., Whittaker, S., 
RefAuthors      Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., 
RefAuthors      Verma, C., Lunny, D. P., Reversade, B., Lane, E. B.
RefTitle        Multiple self-healing squamous epithelioma is caused by a 
RefTitle        disease-specific spectrum of mutations in TGFBR1.
RefLoc          Nat Genet 43:365-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 40609
Feature           /change: -c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1056
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 327
Feature           /change: P -> QPLLIEIX
Feature           /domain: PK
Diagnosis       Multiple self-healing squamous epithelioma
Occurrence      Families: 2; Patients: 3; Homozygotes: 0
//
ID              TGFBR1_@G353X357(1); standard; MUTATION; PK
Accession       K01350
Systematic name g.40688A>C, c.1059A>C, r.1059a>c, p.Gly353Gly
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 21358634
RefAuthors      Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., 
RefAuthors      Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., 
RefAuthors      Coats, S. E., Stewart, A., Christie, L., Pichert, G., 
RefAuthors      Friedel, J., Hayes, I., Burrows, N., Whittaker, S., 
RefAuthors      Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., 
RefAuthors      Verma, C., Lunny, D. P., Reversade, B., Lane, E. B.
RefTitle        Multiple self-healing squamous epithelioma is caused by a 
RefTitle        disease-specific spectrum of mutations in TGFBR1.
RefLoc          Nat Genet 43:365-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 40688
Feature           /change: a -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1135
Feature           /codon: gga -> ggc; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 353
Feature           /change: G -> G
Feature           /domain: PK
Diagnosis       Multiple self-healing squamous epithelioma
Occurrence      Families: 1; Patients: 6; Homozygotes: 0
//
ID              TGFBR1_R414X(1); standard; MUTATION; PK
Accession       K01351
Systematic name g.42465C>T, c.1240C>T, r.1240c>u, p.Arg414X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 21358634
RefAuthors      Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., 
RefAuthors      Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., 
RefAuthors      Coats, S. E., Stewart, A., Christie, L., Pichert, G., 
RefAuthors      Friedel, J., Hayes, I., Burrows, N., Whittaker, S., 
RefAuthors      Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., 
RefAuthors      Verma, C., Lunny, D. P., Reversade, B., Lane, E. B.
RefTitle        Multiple self-healing squamous epithelioma is caused by a 
RefTitle        disease-specific spectrum of mutations in TGFBR1.
RefLoc          Nat Genet 43:365-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 42465
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1316
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: TGFR1_HUMAN: 414
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Multiple self-healing squamous epithelioma
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              TSSK4_V227I(1); standard; MUTATION; PK
Accession       K01352
Systematic name g.2629G>A, c.679G>A, r.679g>a, p.Val227Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18390560
RefAuthors      Su, D., Zhang, W., Yang, Y., Deng, Y., Ma, Y., Song, H., 
RefAuthors      Zhang, S.
RefTitle        Mutation screening and association study of the TSSK4 Gene 
RefTitle        in Chinese infertile men with impaired spermatogenesis.
RefLoc          J Androl 29:374-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:14:24673962:24678454:1: 2629
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_174944.3; GI:42734401; NM_174944.3: 883
Feature           /codon: gtc -> atc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TSSK4_HUMAN: 227
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Infertility
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Polymorphism
//
ID              TSSK4_V255V(1); standard; MUTATION; PK
Accession       K01353
Systematic name g.2715C>A, c.765C>A, r.765c>a, p.Val255Val
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            01-Sep-2011 (Rel. 3, Created)
Date            01-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18390560
RefAuthors      Su, D., Zhang, W., Yang, Y., Deng, Y., Ma, Y., Song, H., 
RefAuthors      Zhang, S.
RefTitle        Mutation screening and association study of the TSSK4 Gene 
RefTitle        in Chinese infertile men with impaired spermatogenesis.
RefLoc          J Androl 29:374-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:14:24673962:24678454:1: 2715
Feature           /change: c -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_174944.3; GI:42734401; NM_174944.3: 969
Feature           /codon: gtc -> gta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: TSSK4_HUMAN: 255
Feature           /change: V -> V
Feature           /domain: PK
Diagnosis       Infertility
Occurrence      Families: 5; Patients: 5; Homozygotes: 0
Comment         -!-Silent Mutation
//
ID              RPS6KA3_R300X(1); standard; MUTATION; PK1
Accession       K01354
Systematic name g.91069C>T, c.898C>T, r.898c>u, p.Arg300X
Description     A point mutation in the exon 11 leading to a premature stop
Description     codon in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;     17717706
RefAuthors      Marques Pereira, P., Heron, D., Hanauer, A.
RefTitle        The first large duplication of the RSK2 gene identified in 
RefTitle        a Coffin-Lowry syndrome patient.
RefLoc          Hum Genet 122:541-3
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91069
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 898
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 300
Feature           /change: R -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome (CLS)
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#G152-1(1); standard; MUTATION; PK1
Accession       K01355
Systematic name g.73880delG, c.454delG, r.454delg, p.Gly152fsX11
Description     A frame shift deletion mutation in the exon 6 leading to a
Description     premature stop codon in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     17100996
RefAuthors      Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, 
RefAuthors      J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., 
RefAuthors      Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G.
RefTitle        Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry 
RefTitle        syndrome and nonsyndromic X-linked mental retardation.
RefLoc          Clin Genet 70:509-15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73880
Feature           /change: -g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 454
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 152
Feature           /change: G -> EEICLHAYPK RX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome (CLS)
Occurrence      Families: 1; Patients: 8; Homozygotes: 0
//
ID              RPS6KA3_#D202-1(1); standard; MUTATION; PK1
Accession       K01356
Systematic name g.79579delT, c.606delT, r.606delu, p.Asp202fsX7
Description     A frame shift deletion mutation in the exon 8 leading to a
Description     premature stop codon in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     17100996
RefAuthors      Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, 
RefAuthors      J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., 
RefAuthors      Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G.
RefTitle        Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry 
RefTitle        syndrome and nonsyndromic X-linked mental retardation.
RefLoc          Clin Genet 70:509-15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 79579
Feature           /change: -t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 606
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 202
Feature           /change: D -> EKKVTSSX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome (CLS)
Occurrence      Families: 1; Patients: 5; Homozygotes: 0
//
ID              RPS6KA3_T115S(1); standard; MUTATION; PK1
Accession       K01357
Systematic name g.72973A>T, c.343A>T, r.343a>u, p.Thr115Ser
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED;     17100996
RefAuthors      Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, 
RefAuthors      J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., 
RefAuthors      Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G.
RefTitle        Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry 
RefTitle        syndrome and nonsyndromic X-linked mental retardation.
RefLoc          Clin Genet 70:509-15
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72973
Feature           /change: a -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 343
Feature           /codon: aca -> tca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 115
Feature           /change: T -> S
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome (CLS)
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              RPS6KA3_@K100X(1); standard; MUTATION; PK1
Accession       K01358
Systematic name g.64051_64052insT, c.297_298insT, r.297_298insu, p.Lys100X
Description     An insertion mutation in the exon 4 leading to a premature
Description     stop codon in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED;     16691578
RefAuthors      Wang, Y., Martinez, J. E., Wilson, G. L., He, X. Y., Tuck-
RefAuthors      Muller, C. M., Maertens, P., Wertelecki, W., Chen, T. J.
RefTitle        A novel RSK2 (RPS6KA3) gene mutation associated with 
RefTitle        abnormal brain MRI findings in a family with Coffin-Lowry 
RefTitle        syndrome.
RefLoc          Am J Med Genet A 140:1274-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64052
Feature           /change: +t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 298
Feature           /codon: aag -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 100
Feature           /change: K -> X
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome (CLS)
Occurrence      Families: 1; Patients: 4; Homozygotes: 0
//
ID              RPS6KA3dom2_H537R(1); standard; MUTATION; PK2
Accession       K01359
Systematic name g.103048A>G, c.1610A>G, r.1610a>g, p.His537Arg
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the PK2 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 20637903
RefAuthors      Jurkiewicz, D., Jezela-Stanek, A., Ciara, E., Piekutowska-
RefAuthors      Abramczuk, D., Kugaudo, M., Gajdulewicz, M., Chrzanowska, 
RefAuthors      K., Popowska, E., Krajewska-Walasek, M.
RefTitle        Four novel RSK2 mutations in females with Coffin-Lowry 
RefTitle        syndrome.
RefLoc          Eur J Med Genet 53:268-73
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103048
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1610
Feature           /codon: cat -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 537
Feature           /change: H -> R
Feature           /domain: PK2
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_#L299X311(1); standard; MUTATION; PK1
Accession       K01360
Systematic name g.91067delT, c.896delT, r.896delu, p.Leu299fsX12
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 20637903
RefAuthors      Jurkiewicz, D., Jezela-Stanek, A., Ciara, E., Piekutowska-
RefAuthors      Abramczuk, D., Kugaudo, M., Gajdulewicz, M., Chrzanowska, 
RefAuthors      K., Popowska, E., Krajewska-Walasek, M.
RefTitle        Four novel RSK2 mutations in females with Coffin-Lowry 
RefTitle        syndrome.
RefLoc          Eur J Med Genet 53:268-73
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91067
Feature           /change: -t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 896
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 299
Feature           /change: L -> YECFSSEILQ TDX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              RPS6KA3_@I88X92(1); standard; MUTATION; PK1
Accession       K01361
Systematic name g.64016dupA, c.262dupA, r.262dupa, p.Ile88fsX4
Description     A frame shift duplication mutation in the exon 4 leading to
Description     a premature stop codon in the PK1 domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 20637903
RefAuthors      Jurkiewicz, D., Jezela-Stanek, A., Ciara, E., Piekutowska-
RefAuthors      Abramczuk, D., Kugaudo, M., Gajdulewicz, M., Chrzanowska, 
RefAuthors      K., Popowska, E., Krajewska-Walasek, M.
RefTitle        Four novel RSK2 mutations in females with Coffin-Lowry 
RefTitle        syndrome.
RefLoc          Eur J Med Genet 53:268-73
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: duplication
Feature           /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64017
Feature           /change: +a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 263
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: KS6A3_HUMAN: 88
Feature           /change: I -> NLRLX
Feature           /domain: PK1
Diagnosis       Coffin-Lowry syndrome
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              NEK1_R127X(1); standard; MUTATION; PK
Accession       K01362
Systematic name g.22887C>T, c.379C>T, r.379c>u, p.Leu127Leu
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            08-Sep-2011 (Rel. 3, Created)
Date            08-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 21211617
RefAuthors      Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, 
RefAuthors      S. A., von der Haar, S., Zenker, M., Zahnleiter, D., 
RefAuthors      Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., 
RefAuthors      Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., 
RefAuthors      Brandstatter, J. H., Rauch, A.
RefTitle        NEK1 mutations cause short-rib polydactyly syndrome type 
RefTitle        majewski.
RefLoc          Am J Hum Genet 88:106-14
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:4:170313426:170534780:-1: 22887
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001199397.1; GI:313661426; NM_001199397.1: 957
Feature           /codon: cta -> tta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: NEK1_HUMAN: 127
Feature           /change: L -> L
Feature           /domain: PK
Diagnosis       Short Rib-Polydactyly Syndrome, Type II
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              PINK1_T313M(1); standard; MUTATION; PK
Accession       K01363
Systematic name g.12197C>T, c.938C>T, r.938c>u, p.Thr313Met
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [1]
RefCrossRef     PUBMED; 18541801
RefAuthors      Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., 
RefAuthors      Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., 
RefAuthors      Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., 
RefAuthors      Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., 
RefAuthors      Mizuno, Y., Hattori, N.
RefTitle        Mutation analysis of the PINK1 gene in 391 patients with 
RefTitle        Parkinson disease.
RefLoc          Arch Neurol 65:802-8
RefNumber       [2]
RefCrossRef     PUBMED;     15955953
RefAuthors      Li, Y., Tomiyama, H., Sato, K., Hatano, Y., Yoshino, H., 
RefAuthors      Atsumi, M., Kitaguchi, M., Sasaki, S., Kawaguchi, S., 
RefAuthors      Miyajima, H., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Clinicogenetic study of PINK1 mutations in autosomal 
RefTitle        recessive early-onset parkinsonism.
RefLoc          Neurology 64:1955-7
RefNumber       [5]
RefCrossRef     PUBMED;     16179113
RefAuthors      Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., 
RefAuthors      Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, 
RefAuthors      Q., Long, Z. G.
RefTitle        [Mutation analysis of PINK1 gene in Chinese patients with 
RefTitle        autosomal recessive early-onset parkinsonism type 6].
RefLoc          Zhonghua Yi Xue Za Zhi 85:1538-41
RefNumber       [4]
RefCrossRef     PUBMED; 21743139
RefAuthors      Zhang, X., Zhang, H., Liao, B., Guo, J., Xia, K., Tang, B.
RefTitle        Mutation analysis of PINK1 gene in patients with early-
RefTitle        onset Parkinsonism.
RefLoc          Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12197
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1032
Feature           /codon: acg -> atg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 313
Feature           /change: T -> M
Feature           /domain: PK
Diagnosis       Parkinson's disease
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 4; Patients: 5; Homozygotes: 3
//
ID              PINK1_C388R(1); standard; MUTATION; PK
Accession       K01364
Systematic name g.16089T>C, c.1162T>C, r.1162u>c, p.Cys388Arg
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [3]
RefCrossRef     PUBMED;     16179113
RefAuthors      Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., 
RefAuthors      Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, 
RefAuthors      Q., Long, Z. G.
RefTitle        [Mutation analysis of PINK1 gene in Chinese patients with 
RefTitle        autosomal recessive early-onset parkinsonism type 6].
RefLoc          Zhonghua Yi Xue Za Zhi 85:1538-41
RefNumber       [4]
RefCrossRef     PUBMED; 18541801
RefAuthors      Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., 
RefAuthors      Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., 
RefAuthors      Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., 
RefAuthors      Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., 
RefAuthors      Mizuno, Y., Hattori, N.
RefTitle        Mutation analysis of the PINK1 gene in 391 patients with 
RefTitle        Parkinson disease.
RefLoc          Arch Neurol 65:802-8
RefNumber       [7]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16089
Feature           /change: t -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1256
Feature           /codon: tgc -> cgc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 388
Feature           /change: C -> R
Feature           /domain: PK
Diagnosis       Parkinson's disease
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 3; Patients: 4; Homozygotes: 2
//
ID              PINK1_W437R(1); standard; MUTATION; PK
Accession       K01365
Systematic name g.16598T>C, c.1309T>C, r.1309u>c, p.Trp437Arg
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            13-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18541801
RefAuthors      Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., 
RefAuthors      Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., 
RefAuthors      Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., 
RefAuthors      Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., 
RefAuthors      Mizuno, Y., Hattori, N.
RefTitle        Mutation analysis of the PINK1 gene in 391 patients with 
RefTitle        Parkinson disease.
RefLoc          Arch Neurol 65:802-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16598
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1403
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 437
Feature           /change: W -> R
Feature           /domain: PK
Diagnosis       Parkinson's disease
Occurrence      Families: ; Patients: 1; Homozygotes: 1
//
ID              PINK1_M342V(1); standard; MUTATION; PK
Accession       K01366
Systematic name g.13170A>G, c.1024A>G, r.1024a>g, p.Met342Val
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            13-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18541801
RefAuthors      Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., 
RefAuthors      Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., 
RefAuthors      Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., 
RefAuthors      Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., 
RefAuthors      Mizuno, Y., Hattori, N.
RefTitle        Mutation analysis of the PINK1 gene in 391 patients with 
RefTitle        Parkinson disease.
RefLoc          Arch Neurol 65:802-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13170
Feature           /change: a -> g
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1118
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 342
Feature           /change: M -> V
Feature           /domain: PK
Diagnosis       Parkinson's disease
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              PINK1_#D297X318(1); standard; MUTATION; PK
Accession       K01367
Systematic name g.12148delG, c.889delG, r.889delg, p.Asp297fsX21
Description     A frame shift deletion mutation in the exon 4 leading to a
Description     premature stop codon in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 18541801
RefAuthors      Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., 
RefAuthors      Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., 
RefAuthors      Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., 
RefAuthors      Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., 
RefAuthors      Mizuno, Y., Hattori, N.
RefTitle        Mutation analysis of the PINK1 gene in 391 patients with 
RefTitle        Parkinson disease.
RefLoc          Arch Neurol 65:802-8
RefNumber       [5]
RefCrossRef     PUBMED; 18329316
RefAuthors      Savettieri, G., Annesi, G., Civitelli, D., Ciro Candiano, 
RefAuthors      I. C., Salemi, G., Ragonese, P., Annesi, F., Tarantino, 
RefAuthors      P., Terruso, V., D'Amelio, M., Quattrone, A.
RefTitle        Identification of the novel D297fsX318 PINK1 mutation and 
RefTitle        phenotype variation in a family with early-onset 
RefTitle        Parkinson's disease.
RefLoc          Parkinsonism Relat Disord 14:509-12
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12148
Feature           /change: -g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 983
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 297
Feature           /change: D -> MCCPHASTLK AWAMAGRCSS LX
Feature           /domain: PK
Diagnosis       Parkinson's disease
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 3; Homozygotes: 2
//
ID              PINK1_#P196X220(1); standard; MUTATION; PK
Accession       K01368
Systematic name g.5586delC, c.586delC, r.586delc, p.Pro196fsX24
Description     A frame shift deletion mutation in the exon 2 leading to a
Description     premature stop codon in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            13-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 18541801
RefAuthors      Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., 
RefAuthors      Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., 
RefAuthors      Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., 
RefAuthors      Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., 
RefAuthors      Mizuno, Y., Hattori, N.
RefTitle        Mutation analysis of the PINK1 gene in 391 patients with 
RefTitle        Parkinson disease.
RefLoc          Arch Neurol 65:802-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5586
Feature           /change: -c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 680
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 196
Feature           /change: P -> QVPVHQEKGR SELRGPLPSP WPSRX
Feature           /domain: PK
Diagnosis       Parkinson's disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R492X(1); standard; MUTATION; PK
Accession       K01369
Systematic name g.16763C>T, c.1474C>T, r.1474c>u, p.Arg492X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 5)
RefNumber       [6]
RefCrossRef     PUBMED; 17960343
RefAuthors      Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. 
RefAuthors      C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S.
RefTitle        PINK1 mutation in Taiwanese early-onset parkinsonism : 
RefTitle        clinical, genetic, and dopamine transporter studies.
RefLoc          J Neurol 254:1347-55
RefNumber       [8]
RefCrossRef     PUBMED;     11782979
RefAuthors      Valente, E. M., Brancati, F., Ferraris, A., Graham, E. A., 
RefAuthors      Davis, M. B., Breteler, M. M., Gasser, T., Bonifati, V., 
RefAuthors      Bentivoglio, A. R., De Michele, G., Durr, A., Cortelli, 
RefAuthors      P., Wassilowsky, D., Harhangi, B. S., Rawal, N., Caputo, 
RefAuthors      V., Filla, A., Meco, G., Oostra, B. A., Brice, A., 
RefAuthors      Albanese, A., Dallapiccola, B., Wood, N. W., , .
RefTitle        PARK6-linked parkinsonism occurs in several European 
RefTitle        families.
RefLoc          Ann Neurol 51:14-8
RefNumber       [4]
RefCrossRef     PUBMED; 15349870
RefAuthors      Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., 
RefAuthors      Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., 
RefAuthors      Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., 
RefAuthors      Shimizu, N., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Novel PINK1 mutations in early-onset parkinsonism.
RefLoc          Ann Neurol 56:424-7
RefNumber       [7]
RefCrossRef     PUBMED; 16179113
RefAuthors      Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., 
RefAuthors      Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, 
RefAuthors      Q., Long, Z. G.
RefTitle        [Mutation analysis of PINK1 gene in Chinese patients with 
RefTitle        autosomal recessive early-onset parkinsonism type 6].
RefLoc          Zhonghua Yi Xue Za Zhi 85:1538-41
RefNumber       [10]
RefCrossRef     PUBMED; 16401616
RefAuthors      Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De 
RefAuthors      Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , .
RefTitle        Mutational analysis of the PINK1 gene in early-onset 
RefTitle        parkinsonism in Europe and North Africa.
RefLoc          Brain 129:686-94
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16763
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1568
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 492
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Parkinson's disease
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 6; Patients: 8; Homozygotes: 1
Comment         -!-Compound heterozygous mutation (Q239X/R492X)
Comment         -!-Combined mutation in 2 patients(L369P/R492X)
//
ID              PINK1_G193R(1); standard; MUTATION; PK
Accession       K01370
Systematic name g.5577G>A, c.577G>A, r.577g>a, p.Gly193Arg
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            13-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 17960343
RefAuthors      Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. 
RefAuthors      C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S.
RefTitle        PINK1 mutation in Taiwanese early-onset parkinsonism : 
RefTitle        clinical, genetic, and dopamine transporter studies.
RefLoc          J Neurol 254:1347-55
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5577
Feature           /change: g -> a
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 671
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 193
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       Parkinson's disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_Q239X(1); standard; MUTATION; PK
Accession       K01371
Systematic name g.7477C>T, c.715C>T, r.715c>u, p.Gln239X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [8]
RefCrossRef     PUBMED; 17960343
RefAuthors      Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. 
RefAuthors      C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S.
RefTitle        PINK1 mutation in Taiwanese early-onset parkinsonism : 
RefTitle        clinical, genetic, and dopamine transporter studies.
RefLoc          J Neurol 254:1347-55
RefNumber       [3]
RefCrossRef     PUBMED; 15349870
RefAuthors      Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., 
RefAuthors      Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., 
RefAuthors      Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., 
RefAuthors      Shimizu, N., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Novel PINK1 mutations in early-onset parkinsonism.
RefLoc          Ann Neurol 56:424-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7477
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 809
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 239
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Parkinson's disease
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
Comment         -!-Q239X/R492X combined mutation found in one patient
//
ID              PINK1_L268L(1); standard; MUTATION; PK
Accession       K01372
Systematic name g.12063A>G, c.804A>G, r.804a>g, p.Leu268Leu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            13-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 17960343
RefAuthors      Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. 
RefAuthors      C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S.
RefTitle        PINK1 mutation in Taiwanese early-onset parkinsonism : 
RefTitle        clinical, genetic, and dopamine transporter studies.
RefLoc          J Neurol 254:1347-55
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12063
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 898
Feature           /codon: cta -> ctg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 268
Feature           /change: L -> L
Feature           /domain: PK
Diagnosis       Parkinson's disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_Y404Y(1); standard; MUTATION; PK
Accession       K01373
Systematic name g.16139C>T, c.1212C>T, r.1212c>u, p.Tyr404Tyr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            13-Sep-2011 (Rel. 3, Created)
Date            13-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [8]
RefCrossRef     PUBMED; 17960343
RefAuthors      Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. 
RefAuthors      C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S.
RefTitle        PINK1 mutation in Taiwanese early-onset parkinsonism : 
RefTitle        clinical, genetic, and dopamine transporter studies.
RefLoc          J Neurol 254:1347-55
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16139
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1306
Feature           /codon: tac -> tat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 404
Feature           /change: Y -> Y
Feature           /domain: PK
Diagnosis       Parkinson's disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_A244G(1); standard; MUTATION; PK
Accession       K01374
Systematic name g.7493C>G, c.731C>G, r.731c>g, p.Ala244Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            14-Sep-2011 (Rel. 3, Created)
Date            14-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18307263
RefAuthors      Gelmetti, V., Ferraris, A., Brusa, L., Romano, F., 
RefAuthors      Lombardi, F., Barzaghi, C., Stanzione, P., Garavaglia, B., 
RefAuthors      Dallapiccola, B., Valente, E. M.
RefTitle        Late onset sporadic Parkinson's disease caused by PINK1 
RefTitle        mutations: clinical and functional study.
RefLoc          Mov Disord 23:881-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7493
Feature           /change: c -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 825
Feature           /codon: gcg -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 244
Feature           /change: A -> G
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_V317I(1); standard; MUTATION; PK
Accession       K01375
Systematic name g.12208G>A, c.949G>A, r.949g>a, p.Val317Ile
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            14-Sep-2011 (Rel. 3, Created)
Date            14-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18307263
RefAuthors      Gelmetti, V., Ferraris, A., Brusa, L., Romano, F., 
RefAuthors      Lombardi, F., Barzaghi, C., Stanzione, P., Garavaglia, B., 
RefAuthors      Dallapiccola, B., Valente, E. M.
RefTitle        Late onset sporadic Parkinson's disease caused by PINK1 
RefTitle        mutations: clinical and functional study.
RefLoc          Mov Disord 23:881-5
RefNumber       [2]
RefCrossRef     PUBMED;     18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12208
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1043
Feature           /codon: gtt -> att; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 317
Feature           /change: V -> I
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              PINK1_K186N(1); standard; MUTATION; PK
Accession       K01376
Systematic name g.5558G>C, c.558G>C, r.558g>c, p.Lys186Asn
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            14-Sep-2011 (Rel. 3, Created)
Date            14-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5558
Feature           /change: g -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 652
Feature           /codon: aag -> aac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 186
Feature           /change: K -> N
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_P196L(1); standard; MUTATION; PK
Accession       K01377
Systematic name g.5587C>T, c.587C>T, r.587c>u, p.Pro196Leu
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            14-Sep-2011 (Rel. 3, Created)
Date            14-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5587
Feature           /change: c -> t
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 681
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 196
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_P209L(1); standard; MUTATION; PK
Accession       K01378
Systematic name g.5626C>T, c.626C>T, r.626c>u, p.Pro209Leu
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            14-Sep-2011 (Rel. 3, Created)
Date            14-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5626
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 720
Feature           /codon: ccg -> ctg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 209
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_E231G(1); standard; MUTATION; PK
Accession       K01379
Systematic name g.7454A>G, c.692A>G, r.692a>g, p.Glu231Gly
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            14-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [16]
RefCrossRef     PUBMED; 19847793
RefAuthors      Tan, E. K., Refai, F. S., Siddique, M., Yap, K., Ho, P., 
RefAuthors      Fook-Chong, S., Zhao, Y.
RefTitle        Clinically reported heterozygous mutations in the PINK1 
RefTitle        kinase domain exert a gene dosage effect.
RefLoc          Hum Mutat 30:1551-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7454
Feature           /change: a -> g
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 786
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 231
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_N235I(1); standard; MUTATION; PK
Accession       K01380
Systematic name g.7466A>T, c.704A>T, r.704a>u, p.Asn235Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7466
Feature           /change: a -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 798
Feature           /codon: aac -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 235
Feature           /change: N -> I
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_T257I(1); standard; MUTATION; PK
Accession       K01381
Systematic name g.7532C>T, c.770C>T, r.770c>u, p.Thr257Ile
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7532
Feature           /change: c -> t
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 864
Feature           /codon: act -> att; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 257
Feature           /change: T -> I
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R263G(1); standard; MUTATION; PK
Accession       K01382
Systematic name g.12046A>G, c.787A>G, r.787a>g, p.Arg263Gly
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12046
Feature           /change: a -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 881
Feature           /codon: aga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 263
Feature           /change: R -> G
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_L268V(1); standard; MUTATION; PK
Accession       K01383
Systematic name g.12061C>G, c.802C>G, r.802c>g, p.Leu268Val
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12061
Feature           /change: c -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 896
Feature           /codon: cta -> gta; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 268
Feature           /change: L -> V
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_R276Q(1); standard; MUTATION; PK
Accession       K01384
Systematic name g.12086G>A, c.827G>A, r.827g>a, p.Arg276Gln
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12086
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 921
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 276
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R279H(1); standard; MUTATION; PK
Accession       K01385
Systematic name g.12095G>A, c.836G>A, r.836g>a, p.Arg279His
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12095
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 930
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 279
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_A280T(1); standard; MUTATION; PK
Accession       K01386
Systematic name g.12097G>A, c.838G>A, r.838g>a, p.Ala280Thr
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12097
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 932
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 280
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_P296L(1); standard; MUTATION; PK
Accession       K01387
Systematic name g.12146C>T, c.887C>T, r.887c>u, p.Pro296Leu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12146
Feature           /change: c -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 981
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 296
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_M318L(1); standard; MUTATION; PK
Accession       K01388
Systematic name g.12211A>T, c.952A>T, r.952a>u, p.Met318Leu
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12211
Feature           /change: a -> t
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1046
Feature           /codon: atg -> ttg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 318
Feature           /change: M -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_Q456X(1); standard; MUTATION; PK
Accession       K01389
Systematic name g.16655C>T, c.1366C>T, r.1366c>u, p.Gln456X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 6)
RefNumber       [1]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [2]
RefCrossRef     PUBMED;     16606941
RefAuthors      Klein, C., Grunewald, A., Hedrich, K.
RefTitle        Early-onset parkinsonism associated with PINK1 mutations: 
RefTitle        frequency, genotypes, and phenotypes.
RefLoc          Neurology 66:1129-30; author reply 1129-30
RefNumber       [7]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
RefNumber       [9]
RefCrossRef     PUBMED; 16401616
RefAuthors      Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De 
RefAuthors      Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , .
RefTitle        Mutational analysis of the PINK1 gene in early-onset 
RefTitle        parkinsonism in Europe and North Africa.
RefLoc          Brain 129:686-94
RefNumber       [12]
RefCrossRef     PUBMED; 16769864
RefAuthors      Hedrich, K., Hagenah, J., Djarmati, A., Hiller, A., 
RefAuthors      Lohnau, T., Lasek, K., Grunewald, A., Hilker, R., 
RefAuthors      Steinlechner, S., Boston, H., Kock, N., Schneider-Gold, 
RefAuthors      C., Kress, W., Siebner, H., Binkofski, F., Lencer, R., 
RefAuthors      Munchau, A., Klein, C.
RefTitle        Clinical spectrum of homozygous and heterozygous PINK1 
RefTitle        mutations in a large German family with Parkinson disease: 
RefTitle        role of a single hit?
RefLoc          Arch Neurol 63:833-8
RefNumber       [17]
RefCrossRef     PUBMED; 18685134
RefAuthors      Ishihara-Paul, L., Hulihan, M. M., Kachergus, J., Upmanyu, 
RefAuthors      R., Warren, L., Amouri, R., Elango, R., Prinjha, R. K., 
RefAuthors      Soto, A., Kefi, M., Zouari, M., Sassi, S. B., Yahmed, S. 
RefAuthors      B., El Euch-Fayeche, G., Matthews, P. M., Middleton, L. 
RefAuthors      T., Gibson, R. A., Hentati, F., Farrer, M. J.
RefTitle        PINK1 mutations and parkinsonism.
RefLoc          Neurology 71:896-902
RefNumber       [20]
RefCrossRef     PUBMED; 19500570
RefAuthors      Grunewald, A., Gegg, M. E., Taanman, J. W., King, R. H., 
RefAuthors      Kock, N., Klein, C., Schapira, A. H.
RefTitle        Differential effects of PINK1 nonsense and missense 
RefTitle        mutations on mitochondrial function and morphology.
RefLoc          Exp Neurol 219:266-73
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16655
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1460
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 456
Feature           /change: Q -> X
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 10; Patients: 34; Homozygotes: 18
//
ID              PINK1_P322L(1); standard; MUTATION; PK
Accession       K01390
Systematic name g.13111C>T, c.965C>T, r.965c>u, p.Pro322Leu
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13111
Feature           /change: c -> t
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1059
Feature           /codon: ccc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 322
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_A339T(1); standard; MUTATION; PK
Accession       K01391
Systematic name g.13161G>A, c.1015G>A, r.1015g>a, p.Ala339Thr
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [16]
RefCrossRef     PUBMED; 19847793
RefAuthors      Tan, E. K., Refai, F. S., Siddique, M., Yap, K., Ho, P., 
RefAuthors      Fook-Chong, S., Zhao, Y.
RefTitle        Clinically reported heterozygous mutations in the PINK1 
RefTitle        kinase domain exert a gene dosage effect.
RefLoc          Hum Mutat 30:1551-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13161
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1109
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 339
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              PINK1_D362H(1); standard; MUTATION; PK
Accession       K01392
Systematic name g.13230G>C, c.1084G>C, r.1084g>c, p.Asp362His
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13230
Feature           /change: g -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1178
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 362
Feature           /change: D -> H
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_A383T(1); standard; MUTATION; PK
Accession       K01393
Systematic name g.16074G>A, c.1147G>A, r.1147g>a, p.Ala383Thr
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16074
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1241
Feature           /codon: gca -> aca; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 383
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              PINK1_G395V(1); standard; MUTATION; PK
Accession       K01394
Systematic name g.16111G>T, c.1184G>T, r.1184g>u, p.Gly395Val
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16111
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1278
Feature           /codon: ggc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 395
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_P399L(1); standard; MUTATION; PK
Accession       K01395
Systematic name g.16123C>T, c.1196C>T, r.1196c>u, p.Pro399Leu
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16123
Feature           /change: c -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1290
Feature           /codon: ccc -> ctc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 399
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R407Q(1); standard; MUTATION; PK
Accession       K01396
Systematic name g.16147G>A, c.1220G>A, r.1220g>a, p.Arg407Gln
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [2]
RefCrossRef     PUBMED; 21743139
RefAuthors      Zhang, X., Zhang, H., Liao, B., Guo, J., Xia, K., Tang, B.
RefTitle        Mutation analysis of PINK1 gene in patients with early-
RefTitle        onset Parkinsonism.
RefLoc          Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16147
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1314
Feature           /codon: cgg -> cag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 407
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 3; Patients: 3; Homozygotes: 0
//
ID              PINK1_G411S(1); standard; MUTATION; PK
Accession       K01397
Systematic name g.16158G>A, c.1231G>A, r.1231g>a, p.Gly411Ser
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [6]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16158
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1325
Feature           /codon: ggc -> agc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 411
Feature           /change: G -> S
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 6; Patients: 6; Homozygotes: 1
//
ID              PINK1_P425S(1); standard; MUTATION; PK
Accession       K01398
Systematic name g.16562C>T, c.1273C>T, r.1273c>u, p.Pro425Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16562
Feature           /change: c -> t
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1367
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 425
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_Y431H(1); standard; MUTATION; PK
Accession       K01399
Systematic name g.16580T>C, c.1291T>C, r.1291u>c, p.Tyr431His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16580
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1385
Feature           /codon: tac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 431
Feature           /change: Y -> H
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_W437X(1); standard; MUTATION; PK
Accession       K01400
Systematic name g.16600G>A, c.1311G>A, r.1311g>a, p.Trp437X
Description     A point mutation in the exon 7 leading to a premature stop
Description     codon in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 3)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [6]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
RefNumber       [9]
RefCrossRef     PUBMED; 16700027
RefAuthors      Criscuolo, C., Volpe, G., De Rosa, A., Varrone, A., 
RefAuthors      Marongiu, R., Mancini, P., Salvatore, E., Dallapiccola, 
RefAuthors      B., Filla, A., Valente, E. M., De Michele, G.
RefTitle        PINK1 homozygous W437X mutation in a patient with apparent 
RefTitle        dominant transmission of parkinsonism.
RefLoc          Mov Disord 21:1265-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16600
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1405
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 437
Feature           /change: W -> X
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 7; Patients: 11; Homozygotes: 8
//
ID              PINK1_I442T(1); standard; MUTATION; PK
Accession       K01401
Systematic name g.16614T>C, c.1325T>C, r.1325u>c, p.Ile442Thr
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
RefNumber       [16]
RefCrossRef     PUBMED; 19847793
RefAuthors      Tan, E. K., Refai, F. S., Siddique, M., Yap, K., Ho, P., 
RefAuthors      Fook-Chong, S., Zhao, Y.
RefTitle        Clinically reported heterozygous mutations in the PINK1 
RefTitle        kinase domain exert a gene dosage effect.
RefLoc          Hum Mutat 30:1551-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16614
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1419
Feature           /codon: atc -> acc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 442
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_N451S(1); standard; MUTATION; PK
Accession       K01402
Systematic name g.16641A>G, c.1352A>G, r.1352a>g, p.Asn451Ser
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16641
Feature           /change: a -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1446
Feature           /codon: aat -> agt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 451
Feature           /change: N -> S
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_L461R(1); standard; MUTATION; PK
Accession       K01403
Systematic name g.16671T>G, c.1382T>G, r.1382u>g, p.Leu461Arg
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16671
Feature           /change: t -> g
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1476
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 461
Feature           /change: L -> R
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_E476K(1); standard; MUTATION; PK
Accession       K01404
Systematic name g.16715G>A, c.1426G>A, r.1426g>a, p.Glu476Lys
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16715
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1520
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 476
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 4; Patients: 4; Homozygotes: 0
//
ID              PINK1_P498L(1); standard; MUTATION; PK
Accession       K01405
Systematic name g.17984C>T, c.1493C>T, r.1493c>u, p.Pro498Leu
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 17984
Feature           /change: c -> t
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1587
Feature           /codon: cca -> cta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 498
Feature           /change: P -> L
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R501Q(1); standard; MUTATION; PK
Accession       K01406
Systematic name g.17993G>A, c.1502G>A, r.1502g>a, p.Arg501Gln
Description     A point mutation in the exon 8 leading to an amino acid
Description     change in the PK domain
Date            15-Sep-2011 (Rel. 3, Created)
Date            15-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 18330912
RefAuthors      Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., 
RefAuthors      Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., 
RefAuthors      Albanese, A., Altavista, M. C., Antonini, A., Barone, P., 
RefAuthors      Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. 
RefAuthors      T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, 
RefAuthors      M., Zecchinelli, A., Zeviani, M., Cassetta, E., 
RefAuthors      Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., 
RefAuthors      Valente, E. M., , .
RefTitle        PINK1 heterozygous rare variants: prevalence, significance 
RefTitle        and phenotypic spectrum.
RefLoc          Hum Mutat 29:565
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 17993
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 8
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1596
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 501
Feature           /change: R -> Q
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_L278V(1); standard; MUTATION; PK
Accession       K01407
Systematic name g.12091C>G, c.832C>G, r.832c>g, p.Leu278Val
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 21743139
RefAuthors      Zhang, X., Zhang, H., Liao, B., Guo, J., Xia, K., Tang, B.
RefTitle        Mutation analysis of PINK1 gene in patients with early-
RefTitle        onset Parkinsonism.
RefLoc          Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12091
Feature           /change: c -> g
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 926
Feature           /codon: ctc -> gtc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 278
Feature           /change: L -> V
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R246X(1); standard; MUTATION; PK
Accession       K01408
Systematic name g.7498C>T, c.736C>T, r.736c>u, p.Arg246X
Description     A point mutation in the exon 3 leading to a premature stop
Description     codon in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 15349870
RefAuthors      Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., 
RefAuthors      Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., 
RefAuthors      Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., 
RefAuthors      Shimizu, N., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Novel PINK1 mutations in early-onset parkinsonism.
RefLoc          Ann Neurol 56:424-7
RefNumber       [6]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7498
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 830
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 246
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_H271Q(1); standard; MUTATION; PK
Accession       K01409
Systematic name g.12072C>A, c.813C>A, r.813c>a, p.His271Gln
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 15349870
RefAuthors      Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., 
RefAuthors      Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., 
RefAuthors      Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., 
RefAuthors      Shimizu, N., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Novel PINK1 mutations in early-onset parkinsonism.
RefLoc          Ann Neurol 56:424-7
RefNumber       [6]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12072
Feature           /change: c -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 907
Feature           /codon: cac -> caa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 271
Feature           /change: H -> Q
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_L347P(1); standard; MUTATION; PK
Accession       K01410
Systematic name g.13186T>C, c.1040T>C, r.1040u>c, p.Leu347Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 4)
RefNumber       [2]
RefCrossRef     PUBMED; 15349870
RefAuthors      Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., 
RefAuthors      Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., 
RefAuthors      Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., 
RefAuthors      Shimizu, N., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Novel PINK1 mutations in early-onset parkinsonism.
RefLoc          Ann Neurol 56:424-7
RefNumber       [6]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
RefNumber       [11]
RefCrossRef     PUBMED; 17055324
RefAuthors      Doostzadeh, J., Tetrud, J. W., Allen-Auerbach, M., 
RefAuthors      Langston, J. W., Schule, B.
RefTitle        Novel features in a patient homozygous for the L347P 
RefTitle        mutation in the PINK1 gene.
RefLoc          Parkinsonism Relat Disord 13:359-61
RefNumber       [14]
RefCrossRef     PUBMED; 18359116
RefAuthors      Moriwaki, Y., Kim, Y. J., Ido, Y., Misawa, H., Kawashima, 
RefAuthors      K., Endo, S., Takahashi, R.
RefTitle        L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 
RefTitle        chaperones is rapidly degraded in a proteasome-dependent 
RefTitle        manner.
RefLoc          Neurosci Res 61:43-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13186
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1134
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 347
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 4; Patients: 4; Homozygotes: 1
//
ID              PINK1_E417G(1); standard; MUTATION; PK
Accession       K01411
Systematic name g.16177A>G, c.1250A>G, r.1250a>g, p.Glu417Gly
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [2]
RefCrossRef     PUBMED; 15349870
RefAuthors      Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., 
RefAuthors      Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., 
RefAuthors      Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., 
RefAuthors      Shimizu, N., Toda, T., Mizuno, Y., Hattori, N.
RefTitle        Novel PINK1 mutations in early-onset parkinsonism.
RefLoc          Ann Neurol 56:424-7
RefNumber       [6]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16177
Feature           /change: a -> g
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1344
Feature           /codon: gag -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 417
Feature           /change: E -> G
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_Y454Y(1); standard; MUTATION; PK
Accession       K01412
Systematic name g.16651C>T, c.1362C>T, r.1362c>u, p.Tyr454Tyr
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [4]
RefCrossRef     PUBMED; 16179113
RefAuthors      Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., 
RefAuthors      Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, 
RefAuthors      Q., Long, Z. G.
RefTitle        [Mutation analysis of PINK1 gene in Chinese patients with 
RefTitle        autosomal recessive early-onset parkinsonism type 6].
RefLoc          Zhonghua Yi Xue Za Zhi 85:1538-41
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16651
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1456
Feature           /codon: tac -> tat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 454
Feature           /change: Y -> Y
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
Comment         -!-Synonymous Mutation
//
ID              PINK1_G309D(1); standard; MUTATION; PK
Accession       K01413
Systematic name g.12185G>A, c.926G>A, r.926g>a, p.Gly309Asp
Description     A point mutation in the exon 4 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12185
Feature           /change: g -> a
Feature           /genomic_region: exon; 4
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1020
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 309
Feature           /change: G -> D
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_A168P(1); standard; MUTATION; PK
Accession       K01414
Systematic name g.5502G>C, c.502G>C, r.502g>c, p.Ala168Pro
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5502
Feature           /change: g -> c
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 596
Feature           /codon: gct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 168
Feature           /change: A -> P
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_R464H(1); standard; MUTATION; PK
Accession       K01415
Systematic name g.16680G>A, c.1391G>A, r.1391g>a, p.Arg464His
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16680
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1485
Feature           /codon: cgc -> cac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 464
Feature           /change: R -> H
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_E240K(1); standard; MUTATION; PK
Accession       K01416
Systematic name g.7480G>A, c.718G>A, r.718g>a, p.Glu240Lys
Description     A point mutation in the exon 3 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [5]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
RefNumber       [7]
RefCrossRef     PUBMED; 16401616
RefAuthors      Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De 
RefAuthors      Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , .
RefTitle        Mutational analysis of the PINK1 gene in early-onset 
RefTitle        parkinsonism in Europe and North Africa.
RefLoc          Brain 129:686-94
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7480
Feature           /change: g -> a
Feature           /genomic_region: exon; 3
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 812
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 240
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 2; Patients: 2; Homozygotes: 0
//
ID              PINK1_L489P(1); standard; MUTATION; PK
Accession       K01417
Systematic name g.16755T>C, c.1466T>C, r.1466u>c, p.Leu489Pro
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 16547921
RefAuthors      Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi-
RefAuthors      Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E.
RefTitle        Homozygous and heterozygous PINK1 mutations: 
RefTitle        considerations for diagnosis and care of Parkinson's 
RefTitle        disease patients.
RefLoc          Mov Disord 21:875-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16755
Feature           /change: t -> c
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1560
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 489
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              PINK1_L369P(1); standard; MUTATION; PK
Accession       K01418
Systematic name g.13252T>C, c.1106T>C, r.1106u>c, p.Leu369Pro
Description     A point mutation in the exon 5 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16401616
RefAuthors      Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De 
RefAuthors      Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , .
RefTitle        Mutational analysis of the PINK1 gene in early-onset 
RefTitle        parkinsonism in Europe and North Africa.
RefLoc          Brain 129:686-94
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13252
Feature           /change: t -> c
Feature           /genomic_region: exon; 5
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1200
Feature           /codon: ctt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 369
Feature           /change: L -> P
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
Comment         -!-Combined mutation in 2 patients(L369P/R492X)
//
ID              PINK1_G386A(1); standard; MUTATION; PK
Accession       K01419
Systematic name g.16084G>C, c.1157G>C, r.1157g>c, p.Gly386Ala
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16401616
RefAuthors      Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De 
RefAuthors      Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , .
RefTitle        Mutational analysis of the PINK1 gene in early-onset 
RefTitle        parkinsonism in Europe and North Africa.
RefLoc          Brain 129:686-94
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16084
Feature           /change: g -> c
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1251
Feature           /codon: ggc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 386
Feature           /change: G -> A
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 2; Homozygotes: 0
//
ID              PINK1_G409V(1); standard; MUTATION; PK
Accession       K01420
Systematic name g.16153G>T, c.1226G>T, r.1226g>u, p.Gly409Val
Description     A point mutation in the exon 6 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [6]
RefCrossRef     PUBMED; 16401616
RefAuthors      Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De 
RefAuthors      Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , .
RefTitle        Mutational analysis of the PINK1 gene in early-onset 
RefTitle        parkinsonism in Europe and North Africa.
RefLoc          Brain 129:686-94
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16153
Feature           /change: g -> t
Feature           /genomic_region: exon; 6
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1320
Feature           /codon: gga -> gta; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 409
Feature           /change: G -> V
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              PINK1_G440E(1); standard; MUTATION; PK
Accession       K01421
Systematic name g.16608G>A, c.1319G>A, r.1319g>a, p.Gly440Glu
Description     A point mutation in the exon 7 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 2)
RefNumber       [12]
RefCrossRef     PUBMED; 18685134
RefAuthors      Ishihara-Paul, L., Hulihan, M. M., Kachergus, J., Upmanyu, 
RefAuthors      R., Warren, L., Amouri, R., Elango, R., Prinjha, R. K., 
RefAuthors      Soto, A., Kefi, M., Zouari, M., Sassi, S. B., Yahmed, S. 
RefAuthors      B., El Euch-Fayeche, G., Matthews, P. M., Middleton, L. 
RefAuthors      T., Gibson, R. A., Hentati, F., Farrer, M. J.
RefTitle        PINK1 mutations and parkinsonism.
RefLoc          Neurology 71:896-902
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16608
Feature           /change: g -> a
Feature           /genomic_region: exon; 7
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1413
Feature           /codon: gga -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 440
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 3; Homozygotes: 3
//
ID              PINK1_V170G(1); standard; MUTATION; PK
Accession       K01422
Systematic name g.5509T>G, c.509T>G, r.509u>g, p.Val170Gly
Description     A point mutation in the exon 2 leading to an amino acid
Description     change in the PK domain
Date            26-Sep-2011 (Rel. 3, Created)
Date            26-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [14]
RefCrossRef     PUBMED; 19500570
RefAuthors      Grunewald, A., Gegg, M. E., Taanman, J. W., King, R. H., 
RefAuthors      Kock, N., Klein, C., Schapira, A. H.
RefTitle        Differential effects of PINK1 nonsense and missense 
RefTitle        mutations on mitochondrial function and morphology.
RefLoc          Exp Neurol 219:266-73
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5509
Feature           /change: t -> g
Feature           /genomic_region: exon; 2
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 603
Feature           /codon: gtg -> ggg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: PINK1_HUMAN: 170
Feature           /change: V -> G
Feature           /domain: PK
Diagnosis       Autosomal recessive early-onset Parkinson disease
Occurrence      Families: 1; Patients: 1; Homozygotes: 1
//
ID              ACVR2A_#C455X475(1); standard; MUTATION; PK
Accession       K01423
Systematic name g.83579delT, c.1363delT, r.1363delu, p.Cys455fsX20
Description     A frame shift deletion mutation in the exon 11 leading to a
Description     premature stop codon in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12615714
RefAuthors      Hempen, P. M., Zhang, L., Bansal, R. K., Iacobuzio-
RefAuthors      Donahue, C. A., Murphy, K. M., Maitra, A., Vogelstein, B., 
RefAuthors      Whitehead, R. H., Markowitz, S. D., Willson, J. K., Yeo, 
RefAuthors      C. J., Hruban, R. H., Kern, S. E.
RefTitle        Evidence of selection for clones having genetic 
RefTitle        inactivation of the activin A type II receptor (ACVR2) 
RefTitle        gene in gastrointestinal cancers.
RefLoc          Cancer Res 63:994-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:2:148601086:148689393:1: 83579
Feature           /change: -t
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001616.3; GI:4501897; NM_001616.3: 1515
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: AVR2A_HUMAN: 455
Feature           /change: C -> VKPLKNVGIT TQKPGYQLDV X
Feature           /domain: PK
Diagnosis       GASTROINTESTINAL CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVR2A_#K435X441(1); standard; MUTATION; PK
Accession       K01424
Systematic name g.82601delA, c.1303delA, r.1303dela, p.Lys437fsX4
Description     A frame shift deletion mutation in the exon 10 leading to a
Description     premature stop codon in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12615714
RefAuthors      Hempen, P. M., Zhang, L., Bansal, R. K., Iacobuzio-
RefAuthors      Donahue, C. A., Murphy, K. M., Maitra, A., Vogelstein, B., 
RefAuthors      Whitehead, R. H., Markowitz, S. D., Willson, J. K., Yeo, 
RefAuthors      C. J., Hruban, R. H., Kern, S. E.
RefTitle        Evidence of selection for clones having genetic 
RefTitle        inactivation of the activin A type II receptor (ACVR2) 
RefTitle        gene in gastrointestinal cancers.
RefLoc          Cancer Res 63:994-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:2:148601086:148689393:1: 82601
Feature           /change: -a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_001616.3; GI:4501897; NM_001616.3: 1455
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: AVR2A_HUMAN: 435
Feature           /change: K -> KKRGLFX
Feature           /domain: PK
Diagnosis       GASTROINTESTINAL CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ACVR2A_P423Q(1); standard; MUTATION; PK
Accession       K01425
Systematic name g.82566C>A, c.1268C>A, r.1268c>a, p.Pro423Gln
Description     A point mutation in the exon 10 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 12615714
RefAuthors      Hempen, P. M., Zhang, L., Bansal, R. K., Iacobuzio-
RefAuthors      Donahue, C. A., Murphy, K. M., Maitra, A., Vogelstein, B., 
RefAuthors      Whitehead, R. H., Markowitz, S. D., Willson, J. K., Yeo, 
RefAuthors      C. J., Hruban, R. H., Kern, S. E.
RefTitle        Evidence of selection for clones having genetic 
RefTitle        inactivation of the activin A type II receptor (ACVR2) 
RefTitle        gene in gastrointestinal cancers.
RefLoc          Cancer Res 63:994-9
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:148601086:148689393:1: 82566
Feature           /change: c -> a
Feature           /genomic_region: exon; 10
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001616.3; GI:4501897; NM_001616.3: 1420
Feature           /codon: cca -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: AVR2A_HUMAN: 423
Feature           /change: P -> Q
Feature           /domain: PK
Diagnosis       GASTROINTESTINAL CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              ARAF_A451T(1); standard; MUTATION; PK
Accession       K01426
Systematic name g.9473G>A, c.1351G>A, r.1351g>a, p.Ala451Thr
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 15676015
RefAuthors      Lee, J. W., Soung, Y. H., Kim, S. Y., Park, W. S., Nam, S. 
RefAuthors      W., Min, W. S., Kim, S. H., Lee, J. Y., Yoo, N. J., Lee, 
RefAuthors      S. H.
RefTitle        Mutational analysis of the ARAF gene in human cancers.
RefLoc          APMIS 113:54-7
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:X:47419516:47432319:1: 9473
Feature           /change: g -> a
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001654.3; GI:4502193; NM_001654.3: 1545
Feature           /codon: gcc -> acc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: ARAF_HUMAN: 451
Feature           /change: A -> T
Feature           /domain: PK
Diagnosis       VARIOUS CANCER
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_P877S(1); standard; MUTATION; PK
Accession       K01427
Systematic name g.53723C>T, c.2629C>T, r.2629c>u, p.Pro877Ser
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [5]
RefCrossRef     PUBMED; 12086964
RefAuthors      Biason-Lauber, A., Lang-Muritano, M., Vaccaro, T., 
RefAuthors      Schoenle, E. J.
RefTitle        Loss of kinase activity in a patient with Wolcott-Rallison 
RefTitle        syndrome caused by a novel mutation in the EIF2AK3 gene.
RefLoc          Diabetes 51:2301-5
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53723
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2931
Feature           /codon: ccc -> tcc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 877
Feature           /change: P -> S
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 3; Homozygotes: 1
//
ID              FGFR4_E681K(1); standard; MUTATION; PK
Accession       K01428
Systematic name g.10744G>A, c.2041G>A, r.2041g>a, p.Glu681Lys
Description     A point mutation in the exon 16 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 17487277
RefAuthors      Marks, J. L., McLellan, M. D., Zakowski, M. F., Lash, A. 
RefAuthors      E., Kasai, Y., Broderick, S., Sarkaria, I. S., Pham, D., 
RefAuthors      Singh, B., Miner, T. L., Fewell, G. A., Fulton, L. L., 
RefAuthors      Mardis, E. R., Wilson, R. K., Kris, M. G., Rusch, V. W., 
RefAuthors      Varmus, H., Pao, W.
RefTitle        Mutational analysis of EGFR and related signaling pathway 
RefTitle        genes in lung adenocarcinomas identifies a novel somatic 
RefTitle        kinase domain mutation in FGFR4.
RefLoc          PLoS One 2:e426
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:5:176512887:176526145:1: 10744
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_002011.3; GI:47524173; NM_002011.3: 2208
Feature           /codon: gag -> aag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: FGFR4_HUMAN: 681
Feature           /change: E -> K
Feature           /domain: PK
Diagnosis       Lung Adenocarcinomas
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_L1058P(1); standard; MUTATION; PK
Accession       K01429
Systematic name g.70663T>C, c.3173T>C, r.3173u>c, p.Leu1058Pro
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15220213
RefAuthors      Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., 
RefAuthors      Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, 
RefAuthors      R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., 
RefAuthors      Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., 
RefAuthors      Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., 
RefAuthors      Julier, C.
RefTitle        Wolcott-Rallison Syndrome: clinical, genetic, and 
RefTitle        functional study of EIF2AK3 mutations and suggestion of 
RefTitle        genetic heterogeneity.
RefLoc          Diabetes 53:1876-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 70663
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3475
Feature           /codon: ctc -> ccc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 1058
Feature           /change: L -> P
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_W899C(1); standard; MUTATION; PK
Accession       K01430
Systematic name g.53791G>T, c.2697G>T, r.2697g>u, p.Trp899Cys
Description     A point mutation in the exon 13 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15220213
RefAuthors      Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., 
RefAuthors      Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, 
RefAuthors      R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., 
RefAuthors      Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., 
RefAuthors      Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., 
RefAuthors      Julier, C.
RefTitle        Wolcott-Rallison Syndrome: clinical, genetic, and 
RefTitle        functional study of EIF2AK3 mutations and suggestion of 
RefTitle        genetic heterogeneity.
RefLoc          Diabetes 53:1876-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53791
Feature           /change: g -> t
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2999
Feature           /codon: tgg -> tgt; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 899
Feature           /change: W -> C
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_N656K(1); standard; MUTATION; PK
Accession       K01431
Systematic name g.51955T>A, c.1968T>A, r.1968u>a, p.Asn656Lys
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15220213
RefAuthors      Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., 
RefAuthors      Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, 
RefAuthors      R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., 
RefAuthors      Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., 
RefAuthors      Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., 
RefAuthors      Julier, C.
RefTitle        Wolcott-Rallison Syndrome: clinical, genetic, and 
RefTitle        functional study of EIF2AK3 mutations and suggestion of 
RefTitle        genetic heterogeneity.
RefLoc          Diabetes 53:1876-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51955
Feature           /change: t -> a
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2270
Feature           /codon: aat -> aaa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 656
Feature           /change: N -> K
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_L646P(1); standard; MUTATION; PK
Accession       K01432
Systematic name g.51924T>C, c.1937T>C, r.1937u>c, p.Leu646Pro
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15220213
RefAuthors      Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., 
RefAuthors      Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, 
RefAuthors      R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., 
RefAuthors      Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., 
RefAuthors      Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., 
RefAuthors      Julier, C.
RefTitle        Wolcott-Rallison Syndrome: clinical, genetic, and 
RefTitle        functional study of EIF2AK3 mutations and suggestion of 
RefTitle        genetic heterogeneity.
RefLoc          Diabetes 53:1876-83
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51924
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2239
Feature           /codon: ctt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 646
Feature           /change: L -> P
Feature           /domain: PK
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_#R909X932(1); standard; MUTATION; PK
Accession       K01433
Systematic name g.53820delG, c.2726delG, r.2726delg, p.Arg909fsX24
Description     A frame shift deletion mutation in the exon 13 leading to a
Description     premature stop codon in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [2]
RefCrossRef     PUBMED; 15384883
RefAuthors      Iyer, S., Korada, M., Rainbow, L., Kirk, J., Brown, R. M., 
RefAuthors      Shaw, N., Barrett, T. G.
RefTitle        Wolcott-Rallison syndrome: a clinical and genetic study of 
RefTitle        three children, novel mutation in EIF2AK3 and a review of 
RefTitle        the literature.
RefLoc          Acta Paediatr 93:1195-201
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53820
Feature           /change: -g
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3028
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 909
Feature           /change: R -> KRGACVCTSS CRSQRQWSFF TVKDX
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 3; Homozygotes: 0
//
ID              EIF2AK3_R903X(1); standard; MUTATION; PK
Accession       K01434
Systematic name g.53801C>T, c.2707C>T, r.2707c>u, p.Arg903X
Description     A point mutation in the exon 13 leading to a premature stop
Description     codon in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53801
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3009
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 903
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_R1065X(1); standard; MUTATION; PK
Accession       K01435
Systematic name g.70683C>T, c.3193C>T, r.3193c>u, p.Arg1065X
Description     A point mutation in the exon 17 leading to a premature stop
Description     codon in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 70683
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3495
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 1065
Feature           /change: R -> X
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_G957E(1); standard; MUTATION; PK
Accession       K01436
Systematic name g.57588G>A, c.2870G>A, r.2870g>a, p.Gly957Glu
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 57588
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3172
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 957
Feature           /change: G -> E
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_G986R(1); standard; MUTATION; PK
Accession       K01437
Systematic name g.57674G>A, c.2956G>A, r.2956g>a, p.Gly986Arg
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 57674
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3258
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 986
Feature           /change: G -> R
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_I651T(1); standard; MUTATION; PK
Accession       K01438
Systematic name g.51939T>C, c.1952T>C, r.1952u>c, p.Ile651Thr
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51939
Feature           /change: t -> c
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2254
Feature           /codon: att -> act; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 651
Feature           /change: I -> T
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_F593L(1); standard; MUTATION; PK
Accession       K01439
Systematic name g.48950T>C, c.1777T>C, r.1777u>c, p.Phe593Leu
Description     A point mutation in the exon 11 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 48950
Feature           /change: t -> c
Feature           /genomic_region: exon; 11
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2079
Feature           /codon: ttt -> ctt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 593
Feature           /change: F -> L
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              EIF2AK3_R633W(1); standard; MUTATION; PK
Accession       K01440
Systematic name g.51884C>T, c.1897C>T, r.1897c>u, p.Arg633Trp
Description     A point mutation in the exon 12 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [3]
RefCrossRef     PUBMED; 19837917
RefAuthors      Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, 
RefAuthors      S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, 
RefAuthors      A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., 
RefAuthors      Hattersley, A. T., Ellard, S.
RefTitle        Wolcott-Rallison syndrome is the most common genetic cause 
RefTitle        of permanent neonatal diabetes in consanguineous families.
RefLoc          J Clin Endocrinol Metab 94:4162-70
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51884
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 12
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2199
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: E2AK3_HUMAN: 633
Feature           /change: R -> W
Feature           /domain: PK
Diagnosis       WOLCOTT-RALLISON SYNDROME
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BUB1B_K1033K(1); standard; MUTATION; PK
Accession       K01442
Systematic name g.60697A>G, c.3099A>G, r.3099a>g, p.Lys1033Lys
Description     A point mutation in the exon 23 leading to an amino acid
Description     change in the PK domain
Date            27-Sep-2011 (Rel. 3, Created)
Date            27-Sep-2011 (Rel. 3, Last updated, Version 1)
RefNumber       [4]
RefCrossRef     PUBMED; 16182441
RefAuthors      Hanks, S., Coleman, K., Summersgill, B., Messahel, B., 
RefAuthors      Williamson, D., Pritchard-Jones, K., Strefford, J., 
RefAuthors      Swansbury, J., Plaja, A., Shipley, J., Rahman, N.
RefTitle        Comparative genomic hybridization and BUB1B mutation 
RefTitle        analyses in childhood cancers associated with mosaic 
RefTitle        variegated aneuploidy syndrome.
RefLoc          Cancer Lett 239:234-8
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: Ensembl: chromosome:GRCh37:15:40452210:40514378:1: 60697
Feature           /change: a -> g
Feature           /genomic_region: exon; 23
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: GenBank: NM_001211.5; GI:59814247; NM_001211.5: 3311
Feature           /codon: aaa -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: BUB1B_HUMAN: 1033
Feature           /change: K -> K
Feature           /domain: PK
Diagnosis       T CELL LEUKEMIA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_M509I(3); standard; MUTATION; TK
Accession       K01443
Systematic name g.65384G>T, c.1527G>T, r.1527g>u, p.Met509Ile
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A0997
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65384
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1659
Feature           /codon: atg -> att; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509
Feature           /change: M -> I
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_L616I(2); standard; MUTATION; TK
Accession       K01444
Systematic name g.68220C>A, c.1846C>A, r.1846c>a, p.Leu616Ile
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1010
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68220
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1978
Feature           /codon: ctc -> atc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 616
Feature           /change: L -> I
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_R615P(2); standard; MUTATION; TK
Accession       K01445
Systematic name g.68218G>C, c.1844G>C, r.1844g>c, p.Arg615Pro
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1172
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68218
Feature           /change: g -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1976
Feature           /codon: cgt -> cct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 615
Feature           /change: R -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_W588X(3); standard; MUTATION; TK
Accession       K01446
Systematic name g.68138G>A, c.1764G>A, r.1764g>a, p.Trp588X
Description     A point mutation in the exon 18 leading to a premature stop
Description     codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (15-Nov-2006) to BTKbase.
RefLoc          Asghar Aghamohammadi; Children's Medical Center, 62 Gharib
RefLoc          St, 14194 Tehran, Iran; Tel +98 21 66935855; Fax +98 21
RefLoc          66428995; e-mail aghamohammadi@sina.tums.ac.ir
RefNumber       [2]
RefAuthors      Aghamohammadi, A., Parvaneh, N., Kanegana, H., Moin, M., 
RefAuthors      Amirzargar, A. A., Farhoudi, A., Pourpak, Z., Movahedi, M.,
RefAuthors      Gharagozlou, M., Rezaei, N., Futatani, T., Miyawaki, T.
RefTitle        Screening of the Bruton tyrosine kinase (BTK) gene mutations
RefTitle        in 13 Iranian patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Iran J Allergy Asthma Immunol 3:175-179 (2004)
RefNumber       [3]
RefCrossRef     PUBMED; 16943681
RefAuthors      Aghamohammadi, A., Fiorini, M., Moin, M., Parvaneh, N., 
RefAuthors      Teimourian, S., Yeganeh, M., Goffi, F., Kanegane, H., 
RefAuthors      Amirzargar, A. A., Pourpak, Z., Rezaei, N., Salavati, A., 
RefAuthors      Pouladi, N., Abdollahzade, S., Notarangelo, L. D., 
RefAuthors      Miyawaki, T., Plebani, A.
RefTitle        Clinical, immunological and molecular characteristics of 
RefTitle        37 iranian patients with X-linked agammaglobulinemia.
RefLoc          Int Arch Allergy Immunol:408-414 (2006)
DB CrossRef     BTKbase; A1200
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68138
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1896
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 588
Feature           /change: W -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_P642R(2); standard; MUTATION; TK
Accession       K01447
Systematic name g.71537C>G, c.1925C>G, r.1925c>g, p.Pro642Arg
Description     A point mutation in the exon 19 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19904586
RefAuthors      Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, 
RefAuthors      W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., 
RefAuthors      Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L.
RefTitle        Clinical characteristics and genotype-phenotype 
RefTitle        correlation in 62 patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          J Clin Immunol:121-131 (2010)
DB CrossRef     BTKbase; A1347
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 71537
Feature           /change: c -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2057
Feature           /codon: ccc -> cgc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 642
Feature           /change: P -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
ID              BTK_#V626-11(2); standard; MUTATION; TK
Accession       K01449
Systematic name g.68250delG, c.1876delG, r.1876delg, p.Val626fsX22
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1044
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68250
Feature           /change: -g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2008
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 626
Feature           /change: V -> YIPSCTVVGM RKQMSVPLSK FFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@G409X439(2); standard; MUTATION; TK
Accession       K01450
Systematic name g.64568_64569insA, c.1226_1227insA, r.1226_1227insa,
Systematic name p.Thr410fsX29
Description     A frame shift insertion mutation in the exon 14 leading to
Description     a premature stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1054
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 64569
Feature           /change: +a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1359
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 409
Feature           /change: G -> GDWTIWGSEV WEMERPVRRG HQDDQRRLHV X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_V546A(2); standard; MUTATION; TK
Accession       K01451
Systematic name g.67492T>C, c.1637T>C, r.1637u>c, p.Val546Ala
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1152
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67492
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1769
Feature           /codon: gtc -> gcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 546
Feature           /change: V -> A
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_Y461X(2); standard; MUTATION; TK
Accession       K01452
Systematic name g.65240delT, c.1383delT, r.1383delu, p.Tyr461X
Description     A deletion mutation in the exon 15 leading to a premature
Description     stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14974089
RefAuthors      Fiorini, M., Franceschini, R., Soresina, A., Schumacher, 
RefAuthors      R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, 
RefAuthors      L. D.
RefTitle        BTK: 22 novel and 25 recurrent mutations in european 
RefTitle        patients with X-linked agammaglobulinemia.
RefLoc          Hum Mutat 23:286 (2004)
DB CrossRef     BTKbase; A0968
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 65240
Feature           /change: -t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1515
Feature           /codon: tat -> tag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 461
Feature           /change: Y -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_G419R(2); standard; MUTATION; TK
Accession       K01453
Systematic name g.64597G>A, c.1255G>A, r.1255g>a, p.Gly419Arg
Description     A point mutation in the exon 14 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1132
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64597
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1387
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 419
Feature           /change: G -> R
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_V585F(2); standard; MUTATION; TK
Accession       K01454
Systematic name g.68127G>T, c.1753G>T, r.1753g>u, p.Val585Phe
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68127
Feature           /change: g -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1885
Feature           /codon: gtt -> ttt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 585
Feature           /change: V -> F
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_@N526X530(2); standard; MUTATION; TK
Accession       K01455
Systematic name g.66789_66790insG, c.1575_1576insG, r.1575_1576insg,
Systematic name p.Asn526fsX10
Description     A frame shift insertion mutation in the exon 16 leading to
Description     a premature stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1146
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: U78027: 66790
Feature           /change: +g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1708
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 526
Feature           /change: N -> ELFGKRSRSC X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_K430X(2); standard; MUTATION; TK
Accession       K01456
Systematic name g.64630A>T, c.1288A>T, r.1288a>u, p.Lys430X
Description     A point mutation in the exon 14 leading to a premature stop
Description     codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19904586
RefAuthors      Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, 
RefAuthors      W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., 
RefAuthors      Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L.
RefTitle        Clinical characteristics and genotype-phenotype 
RefTitle        correlation in 62 patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          J Clin Immunol:121-131 (2010)
DB CrossRef     BTKbase; A1352
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 64630
Feature           /change: a -> t
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1420
Feature           /codon: aag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#C633X648(2); standard; MUTATION; TK
Accession       K01457
Systematic name g.68272delG, c.1898delG, r.1898delg, p.Cys633fsX15
Description     A frame shift deletion mutation in the exon 18 leading to a
Description     premature stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 15661032
RefAuthors      Conley, M. E., Broides, A., Hernandez-Trujillo, V., 
RefAuthors      Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle        Genetic analysis of patients with defects in early B-cell 
RefTitle        development.
RefLoc          Immunol Rev 203:216-234 (2005)
DB CrossRef     BTKbase; A1179
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 68272
Feature           /change: -g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 2030
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 633
Feature           /change: C -> FGMRKQMSVP LSKFFX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_L522P(2); standard; MUTATION; TK
Accession       K01458
Systematic name g.65422T>C, c.1565T>C, r.1565u>c, p.Leu522Pro
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19419768
RefAuthors      Toth, B., Volokha, A., Mihas, A., Pac, M., Bernatowska, 
RefAuthors      E., Kondratenko, I., Polyakov, A., Erdos, M., Pasic, S., 
RefAuthors      Bataneant, M., Szaflarska, A., Mironska, K., Richter, D., 
RefAuthors      Stavrik, K., Avcin, T., Marton, G., Nagy, K., Derfalvi, 
RefAuthors      B., Szolnoky, M., Kalmar, A., Belevtsev, M., Guseva, M., 
RefAuthors      Rugina, A., Krivan, G., Timar, L., Nyul, Z., Mosdosi, B., 
RefAuthors      Kareva, L., Peova, S., Chernyshova, L., Gherghina, I., 
RefAuthors      Serban, M., Conley, M. E., Notarangelo, L. D., Smith, C. 
RefAuthors      I., van Dongen, J., van der Burg, M., Marodi, L.
RefTitle        Genetic and demographic features of X-linked 
RefTitle        agammaglobulinemia in eastern and central europe: a cohort 
RefTitle        study.
RefLoc          Mol Immunol:2140-2146 (2009)
DB CrossRef     BTKbase; A1393
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65422
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1697
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 522
Feature           /change: L -> P
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#R544X555(2); standard; MUTATION; TK
Accession       K01459
Systematic name g.66844delA, c.1630delA, r.1630dela, p.Arg544fsX11
Description     A frame shift deletion mutation in the exon 16 leading to a
Description     premature stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED;  19419768
RefAuthors      Toth, B., Volokha, A., Mihas, A., Pac, M., Bernatowska, 
RefAuthors      E., Kondratenko, I., Polyakov, A., Erdos, M., Pasic, S., 
RefAuthors      Bataneant, M., Szaflarska, A., Mironska, K., Richter, D., 
RefAuthors      Stavrik, K., Avcin, T., Marton, G., Nagy, K., Derfalvi, 
RefAuthors      B., Szolnoky, M., Kalmar, A., Belevtsev, M., Guseva, M., 
RefAuthors      Rugina, A., Krivan, G., Timar, L., Nyul, Z., Mosdosi, B., 
RefAuthors      Kareva, L., Peova, S., Chernyshova, L., Gherghina, I., 
RefAuthors      Serban, M., Conley, M. E., Notarangelo, L. D., Smith, C. 
RefAuthors      I., van Dongen, J., van der Burg, M., Marodi, L.
RefTitle        Genetic and demographic features of X-linked 
RefTitle        agammaglobulinemia in eastern and central europe: a cohort 
RefTitle        study.
RefLoc          Mol Immunol:2140-2146 (2009)
DB CrossRef     BTKbase; A1395
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 66844
Feature           /change: -a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1762
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> GMSWMMNTQA QX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 0; Patients: 1; Homozygotes: 0
//
ID              BTK_Y511N(2); standard; MUTATION; TK
Accession       K01460
Systematic name g.65388T>A, c.1531T>A, r.1531u>a, p.Tyr511Asn
Description     A point mutation in the exon 15 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (14-Mar-2003) to BTKbase.
RefLoc          M. C. Garcia Rodriguez, G. Fontan; Unidad de Inmunologia,
RefLoc          Hospital La Paz. Madrid, Spain; Tel 91 7277095; Fax 91
RefLoc          7277095; e-mail mcruzgarcia.hulp@salud.madrid.org
DB CrossRef     BTKbase; A1056
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65388
Feature           /change: t -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1663
Feature           /codon: tac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 511
Feature           /change: Y -> N
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_A582D(2); standard; MUTATION; TK
Accession       K01461
Systematic name g.67600C>A, c.1745C>A, r.1745c>a, p.Ala582Asp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 19904586
RefAuthors      Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, 
RefAuthors      W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., 
RefAuthors      Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L.
RefTitle        Clinical characteristics and genotype-phenotype 
RefTitle        correlation in 62 patients with X-linked 
RefTitle        agammaglobulinemia.
RefLoc          J Clin Immunol:121-131 (2010)
DB CrossRef     BTKbase; A1345
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67600
Feature           /change: c -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1877
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 582
Feature           /change: A -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_#E407-1(2); standard; MUTATION; TK
Accession       K01462
Systematic name g.64561delG, c.1219delG, r.1219delg, p.Glu407fsX8
Description     A frame shift deletion mutation in the exon 14 leading to a
Description     premature stop codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18714539
RefAuthors      Shabestari, M. S., Rezaei, N.
RefTitle        Asthma and allergic rhinitis in a patient with BTK 
RefTitle        deficiency.
RefLoc          J Investig Allergol Clin Immunol:300-304 (2008)
DB CrossRef     BTKbase; A1308
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: U78027: 64561
Feature           /change: -g
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1351
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 407
Feature           /change: E -> SWGLDNLGX
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
//
//
ID              BTK_Q496X(2); standard; MUTATION; TK
Accession       K01465
Systematic name g.65343C>T, c.1486C>T, r.1486c>u, p.Gln496X
Description     A point mutation in the exon 15 leading to a premature stop
Description     codon in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefLoc          Submitted (15-Nov-2006) to BTKbase.
RefLoc          Asghar Aghamohammadi; Children's Medical Center, 62 Gharib
RefLoc          St, 14194 Tehran, Iran; Tel +98 21 66935855; Fax +98 21
RefLoc          66428995; e-mail aghamohammadi@sina.tums.ac.ir
RefNumber       [2]
RefCrossRef     PUBMED; 16943681
RefAuthors      Aghamohammadi, A., Fiorini, M., Moin, M., Parvaneh, N., 
RefAuthors      Teimourian, S., Yeganeh, M., Goffi, F., Kanegane, H., 
RefAuthors      Amirzargar, A. A., Pourpak, Z., Rezaei, N., Salavati, A., 
RefAuthors      Pouladi, N., Abdollahzade, S., Notarangelo, L. D., 
RefAuthors      Miyawaki, T., Plebani, A.
RefTitle        Clinical, immunological and molecular characteristics of 
RefTitle        37 iranian patients with X-linked agammaglobulinemia.
RefLoc          Int Arch Allergy Immunol:408-414 (2006)
DB CrossRef     BTKbase; A1209
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 65343
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1618
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 496
Feature           /change: Q -> X
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_P619L(2); standard; MUTATION; TK
Accession       K01466
Systematic name g.68230C>T, c.1856C>T, r.1856c>u, p.Pro619Leu
Description     A point mutation in the exon 18 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1011
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 68230
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1988
Feature           /codon: cct -> ctt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> L
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//
ID              BTK_E567D(2); standard; MUTATION; TK
Accession       K01467
Systematic name g.67556A>C, c.1701A>C, r.1701a>c, p.Glu567Asp
Description     A point mutation in the exon 17 leading to an amino acid
Description     change in the TK domain
Date            02-Dec-2011 (Rel. 2, Created)
Date            02-Dec-2011 (Rel. 2, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 11742281
RefAuthors      Kanegane, H., Futatani, T., Wang, Y., Nomura, K., 
RefAuthors      Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., 
RefAuthors      Miyawaki, T.
RefTitle        Clinical and mutational characteristics of X-linked 
RefTitle        agammaglobulinemia and its carrier identified by flow 
RefTitle        cytometric assessment combined with genetic analysis.
RefLoc          J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef     BTKbase; A1002
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: U78027: 67556
Feature           /change: a -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; GI:547759; HSATK: 1833
Feature           /codon: gaa -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 567
Feature           /change: E -> D
Feature           /domain: TK
Diagnosis       Classical XLA
Occurrence      Families: 1; Patients: 1; Homozygotes: 0
//