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., Fr