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 11-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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
Occurrence Families: 1; Patients: 1; 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.79710T>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: IDRefSeq: RPS6KA3_DNA: 79710
Feature /change: t -> g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 679
Feature /codon: tct -> gct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.58326G>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 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; 300075.0002
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RPS6KA3_DNA: 58326
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 224
Feature /codon: ggg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.105964G>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: IDRefSeq: RPS6KA3_DNA: 105964
Feature /change: g -> a
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1934
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.63530G>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: IDRefSeq: RPS6KA3_DNA: 63530
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 244
Feature /codon: gtt -> ttt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.102642C>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: IDRefSeq: RPS6KA3_DNA: 102642
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: EMBL: U08316; GI:1730070; HS08316: 1672
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.99982C>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: IDRefSeq: RPS6KA3_DNA: 99982
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: U08316; GI:1730070; HS08316: 1540
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.90616C>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: IDRefSeq: RPS6KA3_DNA: 90616
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: EMBL: U08316; GI:1730070; HS08316: 913
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.81309C>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: IDRefSeq: RPS6KA3_DNA: 81309
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: U08316; GI:1730070; HS08316: 817
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.72496C>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: IDRefSeq: RPS6KA3_DNA: 72496
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: EMBL: U08316; GI:1730070; HS08316: 334
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.72490C>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: IDRefSeq: RPS6KA3_DNA: 72490
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: EMBL: U08316; GI:1730070; HS08316: 328
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.63582delT, 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: IDRefSeq: RPS6KA3_DNA: 63582
Feature /change: -t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 296
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.63548delA, 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: IDRefSeq: RPS6KA3_DNA: 63548
Feature /change: -a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 262
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.72543T>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: IDRefSeq: RPS6KA3_DNA: 72543
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 381
Feature /codon: cat -> cag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.94826G>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: IDRefSeq: RPS6KA3_DNA: 94826
Feature /change: g -> a
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1292
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.73418G>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: IDRefSeq: RPS6KA3_DNA: 73418
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 460
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.79705C>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: IDRefSeq: RPS6KA3_DNA: 79705
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 674
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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 11-Feb-2004 (Rel. 2, Last updated, Version 7)
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)
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
Occurrence Families: 2; Patients: 2; Homozygotes: 0
//
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 03-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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: 6; Patients: 6; Homozygotes: 0
//
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 11-Feb-2004 (Rel. 2, 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)
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
Occurrence Families: 3; Patients: 12; 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 27-Jan-2004 (Rel. 2, Last updated, Version 3)
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)
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
Occurrence Families: 1; Patients: 6; 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 11-Feb-2004 (Rel. 2, Last updated, Version 9)
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)
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
Occurrence Families: 10; Patients: 13; Homozygotes: 0
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 11-Feb-2004 (Rel. 2, Last updated, Version 7)
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)
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: 8; Patients: 19; 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 11-Feb-2004 (Rel. 2, Last updated, Version 8)
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 ()
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: 43; Patients: 43; 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 29-Jan-2004 (Rel. 2, Last updated, Version 4)
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)
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: 8; Patients: 8; Homozygotes: 0
//
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 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)
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)
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)
Occurrence Families: 4; Patients: 4; 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 03-Feb-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)
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)
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)
Occurrence Families: 2; Patients: 2; 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 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: 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)
Occurrence Families: 1; Patients: 1; 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 27-Jan-2004 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 9428765
RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E.,
RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff,
RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K.,
RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W.,
RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la
RefAuthors Chapelle, A., Aaltonen, L. A.
RefTitle A serine/threonine kinase gene defective in peutz-jeghers
RefTitle syndrome.
RefLoc Nature 391:184-187 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: 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)
Occurrence Families: 1; Patients: 1; 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 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; 602216.0004
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)
Occurrence Families: 1; Patients: 1; 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 27-Jan-2004 (Rel. 2, Last updated, Version 3)
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)
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
Occurrence Families: ; Patients: ; 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 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; 602216.0003
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)
Occurrence Families: 1; Patients: 1; 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 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; 602216.0006
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)
Occurrence Families: 1; Patients: 1; 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 28-Jan-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)
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)
Occurrence Families: 1; Patients: 1; 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 11-Feb-2004 (Rel. 2, 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)
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
Occurrence Families: 1; Patients: 1; 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 11-Feb-2004 (Rel. 2, Last updated, Version 5)
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)
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
Occurrence Families: 3; Patients: 75; 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 10-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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
Occurrence Families: 1; Patients: 1; 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 16-Feb-2004 (Rel. 2, Last updated, Version 7)
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)
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)
Occurrence Families: 37; Patients: 40; Homozygotes: 0
//
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 11-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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)
Occurrence Families: 1; Patients: 9; 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 11-Feb-2004 (Rel. 2, Last updated, Version 5)
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)
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)
Occurrence Families: 2; Patients: 2; 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 26-Jan-2004 (Rel. 2, 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)
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)
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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 11-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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)
Occurrence Families: 1; Patients: 7; 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 10-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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
Occurrence Families: 2; Patients: 2; 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 10-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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
Occurrence Families: 19; Patients: 19; 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 10-Feb-2004 (Rel. 2, Last updated, Version 6)
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)
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)
Occurrence Families: 5; Patients: 5; Homozygotes: 0
//
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 10-Feb-2004 (Rel. 2, Last updated, Version 7)
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)
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
Occurrence Families: 18; Patients: 18; 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 11-Feb-2004 (Rel. 2, Last updated, Version 4)
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: 1; Patients: 4; Homozygotes: 0
//
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_Intron 11(1); standard; MUTATION;
Accession K00120
Systematic name g.IVS10-11G>A, c.1624-11G>A, r.1624-11g>a,
Description A point mutation in the intron 10 leading to an amino acid
Description change
Date 22-Sep-2003 (Rel. 2, Created)
Date 22-Sep-2003 (Rel. 2, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 8124727
RefAuthors Arpaia, E., Shahar, M., Dadi, H., Cohen, A., Roifman, C.
RefAuthors M.
RefTitle Defective T cell receptor signaling and CD8+ thymic
RefTitle selection in humans lacking zap-70 kinase.
RefLoc Cell 76:947-958 (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; 176947.0001
DB CrossRef ZAP70base; Z0002
DB CrossRef ZAP70base; Z0001
DB CrossRef ZAP70base; Z0003
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: ZAP70_DNA: 14948
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: EMBL: L05148; GI:1177044; L05148: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Occurrence Families: 2; Patients: 3; Homozygotes: 3
//
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 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; 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
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID BTK_Intron 13(1); standard; MUTATION; TK
Accession K00124
Systematic name g.IVS13-2A>T, c.1178-2A>T, r.1178-2a>u,
Description A point mutation in the intron 13 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-1995) to the BTKbase.
RefLoc Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis,
RefLoc Postbus 18009,3501 CA Utrecht, The Netherlands;
RefLoc e-mail R.Brooimans@wkz.ruu.nl
DB CrossRef BTKbase; A0174
DB CrossRef BTKbase; A0173
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 64518
Feature /change: a -> t
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1178..1349
Feature /change: - gatcatggga aattgatcca aaggacctga ccttcttgaa
Feature /change: ggagctgggg actggacaat ttggggtagt gaagtatggg
Feature /change: aaatggagag gccagtacga cgtggccatc aagatgatca
Feature /change: aagaaggctc catgtctgaa gatgaattca ttgaagaagc
Feature /change: caaagtcatg at
Feature /note: deletion of exon 14
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 384
Feature /change: A -> GSWEIDPKDL TFLKELGTGQ FGVVKYGKWR GQYDVAIKMI
Feature /change: KEGSMSEDEF IEEAKVMIIF PMRSWCSCMA SAPSSAPSSS
Feature /change: SLSTWPMAAS X
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 2; Homozygotes: 0
Protein struct Premature stop
//
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 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; 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
Occurrence Families: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 14)
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
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: 12; Patients: 14; 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]
//
ID BTK_Intron 17(2); standard; MUTATION; TK
Accession K00131
Systematic name g.IVS17-1G>C, c.1751-1G>C, r.1751-1g>c,
Description A point mutation in the intron 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]
RefLoc Submitted (19-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; A0529
DB CrossRef BTKbase; A0444
DB CrossRef BTKbase; A0528
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 68124
Feature /change: g -> c
Feature /genomic_region: intron; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:-1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 2; Patients: 3; Homozygotes: 0
//
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 28-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)
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
Occurrence Families: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 10)
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
Occurrence Families: 4; Patients: 10; 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]
//
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_M509V(1); standard; MUTATION; TK
Accession K00141
Systematic name g.65382A>G, c.1525A>G, r.1525a>g, p.Met509Val
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]
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 [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)
DB CrossRef BTKbase; A0546
DB CrossRef BTKbase; A0117
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 65382
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: 1657
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509
Feature /change: M -> V
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 2; Patients: 2; Homozygotes: 0
Protein struct Affects stabilation of catalytic loop
Protein struct ref [2]
//
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 28-Jan-2004 (Rel. 2, Last updated, Version 3)
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
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
Occurrence Families: 2; Patients: 2; 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 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; 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: 1; Patients: 1; 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 28-Jan-2004 (Rel. 2, Last updated, Version 11)
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
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
Occurrence Families: 8; Patients: 10; 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]
//
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 22-Sep-2003 (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; 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: 1; Patients: 2; 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 22-Sep-2003 (Rel. 2, Last updated, Version 3)
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: 2; Patients: 3; Homozygotes: 0
Protein struct Distortion of catalytic site; ref [2]
Protein struct Premature stop
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 28-Jan-2004 (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; 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
Occurrence Families: 1; Patients: 1; Homozygotes: 0
Protein struct Highly conserved structurally important
Protein struct ref [2]
//
ID BTK_Intron 13(2); standard; MUTATION; TK
Accession K00153
Systematic name g.IVS13+26>G, c.1177+26>G, r.1177+26>g,
Description A duplication in the intron 13 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 (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; A0798
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: U78027: 63992
Feature /change: +ggtagaaaaa a
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +26
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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 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)
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: 1; Patients: 3; 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 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; 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
Occurrence Families: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 3)
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: 3; Patients: 3; Homozygotes: 0
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 22-Sep-2003 (Rel. 2, Last updated, Version 3)
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: 3; 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 22-Sep-2003 (Rel. 2, Last updated, Version 2)
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
Occurrence Families: 2; Patients: 2; 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 22-Sep-2003 (Rel. 2, Last updated, Version 6)
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: 3; Patients: 6; 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_Intron 15(1); standard; MUTATION; TK
Accession K00165
Systematic name g.IVS15-12T>, c.1567-12T>, r.1567-12u>,
Description A deletion in the intron 15 leading to an amino acid change
Description 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; 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 [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; A0039
DB CrossRef BTKbase; A0893
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 66769..66772
Feature /change: -tttg
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1567..1631
Feature /change: - gcagctcgaa actgtttggt aaacgatcaa ggagttgtta
Feature /change: aagtatctga tttcggcct gtccag
Feature /note: exon 16 deletion
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523
Feature /change: A -> VCPGX
Feature /domain: TK
Diagnosis Moderate XLA
Diagnosis Classical XLA
Occurrence Families: 2; Patients: 2; Homozygotes: 0
Protein struct Large deletion
//
ID BTK_Intron 18(1); standard; MUTATION; TK
Accession K00166
Systematic name g.c.r.
Description A point mutation in the intron 0 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]
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; 7711734
RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., Honsova,
RefAuthors S., Hammarstrom, L., Muller, S., Nilsson, L., Fischer, A.,
RefAuthors 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(1995)
RefNumber [3]
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; A0185
DB CrossRef BTKbase; A0126
DB CrossRef BTKbase; A0156
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; unknown
Feature /changeLenght: -4
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; inframe
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1350..1631
Feature /change: - gaatctttcc catgagaagc tggtgcagtt gtatggcgtc
Feature /change: tgcaccaagc agcgccccat cttcatcatc actgagtaca
Feature /change: tggccaatgg ctgcctcctg aactacctga gggagatgcg
Feature /change: ccaccgcttc cagactcagc agctgctaga gatgtgcaag
Feature /change: gatgtctgtg aagccatgga atacctggag tcaaagcagt
Feature /change: tccttcaccg agacctggca gctcgaaact gtttggtaaa
Feature /change: cgatcaagga gttgttaaag tatctgattt cggcctgtcc ag
Feature /note: deletion of exons 15 and 16
Feature aa; 3
Feature /rnalink: 2
Feature /name: inframe deletion
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 451..545
Feature /change: -NLSHEKLVQL YGVCTKQRPI FIITEYMANG CLLNYLREMR
Feature /change: HRFQTQQLLE MCKDVCEAME YLESKQFLHR DLAARNCLVN
Feature /change: DQGVVKVSDF GLSRY
Feature /domain: TK
Diagnosis
Diagnosis Classical XLA
Occurrence Families: 3; Patients: 3; Homozygotes: 0
Protein struct Large deletion
Protein struct Premature stop
//
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 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; 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
Occurrence Families: 1; Patients: 1; 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 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_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: 1; Patients: 1; Homozygotes: 0
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 28-Jan-2004 (Rel. 2, Last updated, Version 12)
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)
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
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
Occurrence Families: 11; Patients: 11; 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]
//
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 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)
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
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
Occurrence Families: 1; Patients: 1; 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 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; 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: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 5)
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: 2; Patients: 5; 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]
//
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 28-Jan-2004 (Rel. 2, Last updated, Version 5)
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
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: 4; Patients: 4; 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 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; 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: 1; Patients: 1; 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_D504V(1); standard; MUTATION; TK
Accession K00182
Systematic name g.65368A>T, c.1511A>T, r.1511a>u, p.Asp504Val
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 4)
RefNumber [1]
RefLoc Submitted (24-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; A0805
DB CrossRef BTKbase; A0664
DB CrossRef BTKbase; A0578
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 65368
Feature /change: a -> 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: 1643
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 504
Feature /change: D -> V
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 3; Patients: 3; Homozygotes: 0
//
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 28-Jan-2004 (Rel. 2, Last updated, Version 9)
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)
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
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
Occurrence Families: 8; Patients: 8; 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 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; 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: 1; Patients: 1; 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_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 28-Jan-2004 (Rel. 2, Last updated, Version 3)
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
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
Occurrence Families: 2; Patients: 2; 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 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; A0689
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: 1; Patients: 1; Homozygotes: 0
//
ID BTK_Intron 13(3); standard; MUTATION; TK
Accession K00191
Systematic name g.IVS13+2T>, c.1177+2T>, r.1177+2u>,
Description A deletion in the intron 13 leading to an amino acid change
Description 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 (22-Apr-1996) to the BTKbase.
RefLoc Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis,
RefLoc Postbus 18009,3501 CA Utrecht, The Netherlands;
RefLoc e-mail R.Brooimans@wkz.ruu.nl
RefNumber [2]
RefCrossRef PUBMED; 9192269
RefAuthors Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T.,
RefAuthors Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J.,
RefAuthors Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle Identification of novel Bruton's tyrosine kinase mutations
RefTitle in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc J. Med. Genet. 34: 484-488(1997)
DB CrossRef BTKbase; A0277
DB CrossRef BTKbase; A0278
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63968
Feature /change: -t
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1310
Feature /name: gain of exon sequence; frameshift
Feature /change: + gtaactcctt atttctctgg
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 393..403
Feature /change: GSWEIDPKDLT -> GNSLFLSDHGKLIQRTX
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 2; 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_Intron 16(1); standard; MUTATION; TK
Accession K00194
Systematic name g.IVS16+1G>T, c.1631+1G>T, r.1631+1g>u,
Description A point mutation in the intron 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 6)
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; 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 [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 ESID; IT 0436 MXX G1
DB CrossRef BTKbase; A0249
DB CrossRef BTKbase; A0468
DB CrossRef BTKbase; A0585
DB CrossRef BTKbase; A0189
DB CrossRef OMIM; 300300.0041
DB CrossRef BTKbase; A0102
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 66846
Feature /change: g -> t
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 5; Patients: 5; Homozygotes: 0
Protein struct Aberrant splicing
//
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 28-Jan-2004 (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; 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
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: 1; Patients: 2; Homozygotes: 0
Protein struct Premature stop
//
ID BTK_Intron 18(2); standard; MUTATION; TK
Accession K00197
Systematic name g.IVS18+1G>T, c.1908+1G>T, r.1908+1g>u,
Description A point mutation in the intron 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 6)
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; 10405381
RefAuthors Weir, S., Cuccherini, B., Whitney, A. M., Ray, M. L.,
RefAuthors MacGregor, J. P., Steigerwalt, A., Daneshvar, M. I.,
RefAuthors Weyant, R., Wray, B., Steele, J., Strober, W., Gill, V. J.
RefTitle Recurrent bacteremia caused by a "Flexispira"-like
RefTitle organism in a patient with X-linked (Bruton's)
RefTitle agammaglobulinemia.
RefLoc J. Clin. Microbiol. 37:2439-2445 (1999)
RefNumber [3]
RefCrossRef PUBMED; 11027452
RefAuthors Cuccherini, B., Chua, K., Gill, V., Weir, S., Wray, B.,
RefAuthors Stewart, D., Nelson, D., Fuss, I., Strober, W.
RefTitle Bacteremia and skin/bone infections in two patients with
RefTitle X-linked agammaglobulinemia caused by an unusual organism
RefTitle related to Flexispira/Helicobacter species.
RefLoc Clin. Immunol. 97:121-129 (2000)
RefNumber [4]
RefCrossRef PUBMED; 11564824
RefAuthors Jo, E. K., Kanegane, H., Nonoyama, S., Tsukada, S., Lee,
RefAuthors J. H., Lim, K., Shong, M., Song, C. H., Kim, H. J., Park,
RefAuthors J. K., Miyawaki, T.
RefTitle Characterization of mutations, including a novel
RefTitle regulatory defect in the first intron, in Bruton's
RefTitle tyrosine kinase gene from seven Korean X-linked
RefTitle agammaglobulinemia families.
RefLoc J. Immunol. 167:4038-4045 (2001)
DB CrossRef BTKbase; A0447
DB CrossRef BTKbase; A0776
DB CrossRef BTKbase; A0785
DB CrossRef BTKbase; A0446
DB CrossRef BTKbase; A0445
DB CrossRef BTKbase; A0784
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 68283
Feature /change: g -> t
Feature /genomic_region: intron; 18
Feature /RE: +MseI, +MseI, -MseI, -MseI, +Tru1I, +Tru1I,
Feature /RE: -Tru1I, -Tru1I, +Tru9I, +Tru9I, -Tru9I, -Tru9I,
Feature /RE:
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 3; Patients: 6; Homozygotes: 0
//
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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 1; Patients: 1; 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_Intron 18(3); standard; MUTATION; TK
Accession K00201
Systematic name g.IVS18+1G>A, c.1908+1G>A, r.1908+1g>a,
Description A point mutation in the intron 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]
RefLoc Submitted (02-Jan-1997) to the BTKbase.
RefLoc Dr. Bratin K. Saha; Department of Pathology and
RefLoc Laboratory Medicine, 69 Butler St. SE
RefLoc Atlanta, GA 30303-3219; Fax: (404) 616-7455;
RefLoc e-mail bsaha@emory.edu
RefNumber [2]
RefCrossRef PUBMED; 9260159
RefAuthors Saha, B. K., Curtis S. K., Voles, L. B., Vihinen, M.
RefTitle Molecular and structural characterization of five
RefTitle novel mutations in the Bruton's tyrosine kinase gene
RefTitle from patients with X-linked agammaglobulinemia
RefLoc Molec. Med. 3:477-485(1997)
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 BTKbase; A0397
DB CrossRef BTKbase; A0826
DB CrossRef BTKbase; A0396
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 68283
Feature /change: g -> a
Feature /genomic_region: intron; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 2; Patients: 3; 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 28-Jan-2004 (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; 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
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
Occurrence Families: 3; Patients: 3; Homozygotes: 0
Protein struct Affects stabilation of catalytic loop
Protein struct ref [2]
Protein struct Affects stabilation of catalytic loop
Protein struct 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_Intron 15(3); standard; MUTATION; TK
Accession K00208
Systematic name g.IVS15+1G>C, c.1566+1G>C, r.1566+1g>c,
Description A point mutation in the intron 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; A0848
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 65424
Feature /change: g -> c
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID BTK_Intron 16(2); standard; MUTATION; TK
Accession K00209
Systematic name g.IVS16+1G>C, c.1631+1G>C, r.1631+1g>c,
Description A point mutation in the intron 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; 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; 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)
RefNumber [4]
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; A0146
DB CrossRef BTKbase; A0319
DB CrossRef BTKbase; A0725
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 66846
Feature /change: g -> c
Feature /genomic_region: intron; 16
Feature /RE: +AluI, +BstDEI, +CviJI, +CviJI, +DdeI, +MspA1I,
Feature /RE: +MwoI, +NspBII, +PvuII,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: gain of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1764
Feature /change: + ctgagtgtgg ctttttcatc tttccctcca gaagtaaaaa
Feature /change: tagcacagta tgaaacatgg
Feature /note: insertion of exon 16a
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature /change: R -> SX
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 2; Patients: 3; Homozygotes: 0
Protein struct Large insertion
//
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 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; 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
Occurrence Families: 1; Patients: 1; 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 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; 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: 1; Patients: 1; 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 28-Jan-2004 (Rel. 2, Last updated, Version 15)
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
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
Occurrence Families: 13; Patients: 14; 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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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)
DB CrossRef BTKbase; A0739
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: 1; Patients: 1; 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_Intron 16(3); standard; MUTATION; TK
Accession K00220
Systematic name g.IVS16-3C>A, c.1632-3C>A, r.1632-3c>a,
Description A point mutation in the intron 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; A0755
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 67484
Feature /change: c -> a
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:-3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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 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; 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
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
Occurrence Families: 1; Patients: 3; 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]
//
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 28-Jan-2004 (Rel. 2, Last updated, Version 2)
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
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
Occurrence Families: 1; Patients: 1; 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 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; 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: 1; Patients: 1; Homozygotes: 0
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 22-Sep-2003 (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)
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: 2; Patients: 2; Homozygotes: 0
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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 1; Patients: 1; 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 28-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; 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
Occurrence Families: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 1; Patients: 1; 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 28-Jan-2004 (Rel. 2, Last updated, Version 3)
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
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: 2; Patients: 2; 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 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; 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: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 1; Patients: 1; Homozygotes: 0
Protein struct Premature stop
//
ID BTK_Intron 15(4); standard; MUTATION; TK
Accession K00238
Systematic name g.IVS15-2A>C, c.1567-2A>C, r.1567-2a>c,
Description A point mutation in the intron 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]
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; 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; A0825
DB CrossRef BTKbase; A0824
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 66779
Feature /change: a -> c
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1699..1763
Feature /change: -gcagctcgaa actgtttggt aaacgatcaa ggagttgtta
Feature /change: aagtatctga tttcggcctg tccag
Feature /inexloc: -2
Feature /note: deletion of exon 16
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523..544
Feature /change: AARNCLVNDQ GVVKVSDFGL SR -> VCPGX
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 2; Homozygotes: 0
//
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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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
Occurrence Families: 1; Patients: 1; 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 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; 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
Occurrence Families: 1; Patients: 1; Homozygotes: 0
Protein struct Premature stop
//
ID BTK_Intron 14(1); standard; MUTATION; TK
Accession K00241
Systematic name g.IVS14+5G>T, c.1349+5G>T, r.1349+5g>u,
Description A point mutation in the intron 14 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 (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; A0389
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 64696
Feature /change: g -> t
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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 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)
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
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID BTK_Intron 15(5); standard; MUTATION; TK
Accession K00243
Systematic name g.IVS15+1G>T, c.1566+1G>T, r.1566+1g>u,
Description A point mutation in the intron 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 4)
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 [2]
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 [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 BTKbase; A0607
DB CrossRef BTKbase; A0702
DB CrossRef BTKbase; A0405
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 65424
Feature /change: g -> t
Feature /genomic_region: intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 3; Patients: 3; 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 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; 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: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 1; Patients: 1; Homozygotes: 0
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 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; 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: 1; Patients: 1; 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 28-Jan-2004 (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; 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
Occurrence Families: 1; Patients: 1; Homozygotes: 0
Protein struct Truncated protein
Protein struct ref [2]
//
ID BTK_Intron 17(3); standard; MUTATION; TK
Accession K00250
Systematic name g.IVS17-1G>T, c.1751-1G>T, r.1751-1g>u,
Description A point mutation in the intron 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 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; A0590
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 68124
Feature /change: g -> t
Feature /genomic_region: intron; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:-1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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_Intron 13(4); standard; MUTATION; TK
Accession K00255
Systematic name g.IVS13-7>C, c.1178-7>C, r.1178-7>c,
Description An insertion in the intron 13 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 (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; A0794
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: U78027: 64513
Feature /change: +c
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -7
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
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_Intron 18(4); standard; MUTATION; TK
Accession K00257
Systematic name g.IVS18+2>C, c.1908+2>C, r.1908+2>c,
Description An insertion in the intron 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 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
RefLoc Submitted (10-Oct-1998) to BTKbase.
DB CrossRef BTKbase; A0512
Feature dna; 1
Feature /name: insertion
Feature /loc: EMBL: U78027: 68284
Feature /change: +c
Feature /genomic_region: intron; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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 28-Jan-2004 (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; A0398
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
Occurrence Families: 1; Patients: 1; 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 28-Oct-2003 (Rel. 2, Last updated, Version 3)
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)
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
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
Occurrence Families: 1; Patients: 2; 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 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)
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_51
DB CrossRef SWISS-PROT; Q06187:544_544
DB CrossRef BTKbase; A0218
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: 1; Patients: 1; 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 22-Sep-2003 (Rel. 2, Last updated, Version 2)
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)
DB CrossRef BTKbase; A0554
DB CrossRef BTKbase; A0836
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
Occurrence Families: 2; Patients: 2; 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_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_Intron 17(4); standard; MUTATION; TK
Accession K00276
Systematic name g.IVS17+3>T, c.1750+3>T, r.1750+3>u,
Description A duplication in the intron 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 (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; A0391
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: U78027: 67608
Feature /change: +t
Feature /genomic_region: intron; 17
Feature /RE: +MseI, +Tru1I, +Tru9I,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 1; Patients: 1; 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_Intron 14(2); standard; MUTATION; TK
Accession K00284
Systematic name g.IVS14+6T>G, c.1349+6T>G, r.1349+6u>g,
Description A point mutation in the intron 14 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; 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 BTKbase; A0633
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 64697
Feature /change: t -> g
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: gain of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1482
Feature /change: +gtgag
Feature /inexloc: +6
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 450
Feature /change: M -> MX
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_Intron 17(5); standard; MUTATION; TK
Accession K00286
Systematic name g.IVS17+5G>A, c.1750+5G>A, r.1750+5g>a,
Description A point mutation in the intron 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; 8013627
RefAuthors Duriez, B., Duquesnoy, P., Dastot, F., Bougneres, P.,
RefAuthors Amselem, S., Goossens, M.
RefTitle An exon-skipping mutation in the btk gene of a patient
RefTitle with X-linked agammaglobulinemia and isolated growth
RefTitle hormone deficiency
RefLoc FEBS Letters 346:165-170(1994)
DB CrossRef OMIM; 300300.0004
DB CrossRef BTKbase; A0029
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 67610
Feature /change: g -> a
Feature /genomic_region: intron; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1763..1882
Feature /change: - gtatgtcctg gatgatgaat acacaagctc agtaggctcc
Feature /change: aaatttccag tccggtggtc cccaccggaa gtcctgatgt
Feature /change: atagcaagtt cagcagcaaa tctgacattt gggcttttg
Feature /note: deletion of exon 17
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 599..659
Feature /change: -ERFTNSETAE HIAQGLRLYR PHLASEKVYT
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 1; Homozygotes: 0
Protein struct Premature stop
//
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_Intron 14(3); standard; MUTATION; TK
Accession K00298
Systematic name g.IVS14+5G>A, c.1349+5G>A, r.1349+5g>a,
Description A point mutation in the intron 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 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)
RefNumber [5]
RefCrossRef PUBMED; 9192269
RefAuthors Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T.,
RefAuthors Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J.,
RefAuthors Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle Identification of novel Bruton's tyrosine kinase mutations
RefTitle in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc J. Med. Genet. 34: 484-488(1997)
DB CrossRef BTKbase; A0390
DB CrossRef BTKbase; A0279
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 64696
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature /RE: +Sse9I, +TasI, +Tsp509I, +TspEI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /domain: tk
Diagnosis Classical XLA
Occurrence Families: 2; Patients: 2; Homozygotes: 0
Protein struct Premature stop
//
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 29-Jan-2004 (Rel. 2, Last updated, Version 3)
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)
DB CrossRef BTKbase; A0703
DB CrossRef SWISSCHANGE; BTK_HUMAN_47
DB CrossRef SWISS-PROT; Q06187:525_525
DB CrossRef BTKbase; A0119
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
Occurrence Families: 2; Patients: 2; 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 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; A0597
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
Occurrence Families: 1; Patients: 1; 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_Intron 16(4); standard; MUTATION; TK
Accession K00328
Systematic name g.IVS16-3A>C, c.1632-3A>C, r.1632-3a>c,
Description A point mutation in the intron 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; A0756
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 67484
Feature /change: a -> c
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:-3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
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_Intron 14(4); standard; MUTATION; TK
Accession K00336
Systematic name g.IVS14+1G>A, c.1349+1G>A, r.1349+1g>a,
Description A point mutation in the intron 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; 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; A0855
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 64692
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: TK
Diagnosis Classical XLA
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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_Intron 14(5); standard; MUTATION; TK
Accession K00343
Systematic name g.IVS14+1G>T, c.1349+1G>T, r.1349+1g>u,
Description A point mutation in the intron 14 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; 9192269
RefAuthors Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T.,
RefAuthors Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J.,
RefAuthors Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle Identification of novel Bruton's tyrosine kinase mutations
RefTitle in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc J. Med. Genet. 34: 484-488(1997)
DB CrossRef BTKbase; A0419
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 64692
Feature /change: g -> t
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1310..1481
Feature /change: - gatcatggga aattgatcca aaggacctga ccttcttgaa
Feature /change: ggagctgggg actggacaat ttggggtagt gaagtatggg
Feature /change: aaatggagag gccagtacga cgtggccatc aagatgatca
Feature /change: aagaaggctc catgtctgaa gatgaattca ttgaagaagc
Feature /change: caaagtcatg at
Feature /note: deletion of exon 14
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 393
Feature /change: G ->GIFPMRSWCSCMASAPSSAPSSSSLSTWPMAASX
Feature /domain: TK
Diagnosis X-linked agammaglobulinemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
Protein struct Premature stop
//
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 10-Feb-2004 (Rel. 2, Last updated, Version 6)
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)
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
Occurrence Families: 9; Patients: 9; 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 10-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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
Occurrence Families: 2; Patients: 2; 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 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; 134934.0022
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
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 16-Feb-2004 (Rel. 2, Last updated, Version 10)
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
Occurrence Families: 172; Patients: 154; 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 29-Sep-2003 (Rel. 2, Last updated, Version 1)
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)
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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 29-Sep-2003 (Rel. 2, Last updated, Version 1)
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)
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)
Occurrence Families: 1; Patients: 3; Homozygotes:
//
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 29-Sep-2003 (Rel. 2, Last updated, Version 1)
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)
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)
Occurrence Families: 1; Patients: 3; Homozygotes:
//
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 26-Jan-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: 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)
Occurrence Families: 1; Patients: 1; 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 29-Sep-2003 (Rel. 2, Last updated, Version 1)
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: 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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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_Intron 23(1); standard; MUTATION;
Accession K00385
Systematic name g.IVS23+0T>C, c.3207+1T>C, r.3207+1u>c,
Description A point mutation in the intron 23 leading to an amino acid
Description change
Date 30-Sep-2003 (Rel. 2, Created)
Date 30-Sep-2003 (Rel. 2, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 7659163
RefAuthors Macchi, P., Villa, A., Giliani, S., Sacco, M. G., Frattini,
RefAuthors A., Porta, F., Ugazio, A. G.,Johnston, J. A., Candotti, F.,
RefAuthors O'Shea, J. J., Vezzoni, P., Notarangelo, L. D.
RefTitle Mutations of Jak-3 gene in patients with autosomal severe
RefTitle combined immune deficiency (SCID)
RefLoc Nature 377:65-68 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8704236
RefAuthors Villa, A., Sironi, M., Macchi, P., Mateucci, C.,
RefAuthors Notarangelo,L. D., Vezzoni, P., Mantovani, A.
RefTitle Monocyte function in a severe combined immunodeficient
RefTitle patient with a donor splice site mutation in the Jak3 gene
RefLoc Blood 88:817-823 (1996)
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]
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; 600173.0002
DB CrossRef JAK3base; J0002
DB CrossRef JAK3base; J0015
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: HSU70065: 9454
Feature /inexloc: +2
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U31601; GI:508730; HS31601: 2295..2445
Feature /change: -aaactccaat tttatgagga ccggcagcag ctgccggccc
Feature /change: ccaagtggac agagctggcc ctgctgattc aacagtgcat
Feature /change: ggcctatgag ccggtccaga ggccctcctt ccgagccgtc
Feature /change: attcgtgacc tcaatagcct catctcttca g
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P52333; JAK3_HUMAN: 734..784
Feature /change: KLQFYEDRQQ LPAPKWTELA LLIQQCMAYE PVQRPSFRAV
Feature /change: IRDLNSLISS D
Feature /change: -> TMSSSQTPHL VPWHLVMGCG MVPSSMPAKT PRSSRRDTSS
Feature /change: TSHSWARATL AAWSCAAMTR X
Feature /domain: JH2
Diagnosis T-B+ severe combined immunodeficiency
Diagnosis T-B+ severe combined immunodeficiency
Diagnosis T-B+ severe combined immunodeficiency
Diagnosis T-B+ severe combined immunodeficiency
Occurrence Families: 1; 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_Intron 23(4); standard; MUTATION;
Accession K00393
Systematic name g.IVS23+0>, c.3207+1>, r.3207+1>,
Description A point mutation in the intron 23 leading to an amino acid
Description change
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: 18885
Feature /change: ->
Feature /genomic_region: intron; 23
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +0
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis T-B+ severe combined immunodeficiency
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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_Intron 23(2); standard; MUTATION;
Accession K00397
Systematic name g.IVS23+0T>A, c.3207+1T>A, r.3207+1u>a,
Description A point mutation in the intron 23 leading to an amino acid
Description change
Date 30-Sep-2003 (Rel. 2, Created)
Date 30-Sep-2003 (Rel. 2, Last updated, Version 2)
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]
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; J0014
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /loc: unknown
Feature /inexloc: +2
Feature /change: t -> a
Feature /genomic_region: intron; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: JH1
Diagnosis T-B+ severe combined immunodeficiency
Diagnosis T-B+ severe combined immunodeficiency
Occurrence Families: 1; Patients: 1; Homozygotes: 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.58324A>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: IDRefSeq: RPS6KA3_DNA: 58324
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 222
Feature /codon: tta -> ttc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.58340G>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: IDRefSeq: RPS6KA3_DNA: 58340
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 238
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.72502C>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: IDRefSeq: RPS6KA3_DNA: 72502
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 340
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.72518G>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: IDRefSeq: RPS6KA3_DNA: 72518
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 356
Feature /codon: cgt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.74119T>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: IDRefSeq: RPS6KA3_DNA: 74119
Feature /change: t -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 566
Feature /codon: ata -> aaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.74130G>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: IDRefSeq: RPS6KA3_DNA: 74130
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 577
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.79723C>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: IDRefSeq: RPS6KA3_DNA: 79723
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 692
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.58307G>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: IDRefSeq: RPS6KA3_DNA: 58307
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 205
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.81297C>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: IDRefSeq: RPS6KA3_DNA: 81297
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 805
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.79758C>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: IDRefSeq: RPS6KA3_DNA: 79758
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: U08316; GI:1730070; HS08316: 727
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.90635T>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: IDRefSeq: RPS6KA3_DNA: 90635
Feature /change: t -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 932
Feature /codon: tta -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.94887G>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: IDRefSeq: RPS6KA3_DNA: 94887
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1353
Feature /codon: aag -> aac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.98188T>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: IDRefSeq: RPS6KA3_DNA: 98188
Feature /change: t -> g
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1400
Feature /codon: ctt -> cgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.98211A>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: IDRefSeq: RPS6KA3_DNA: 98211
Feature /change: a -> g
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1423
Feature /codon: aac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.99917T>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: IDRefSeq: RPS6KA3_DNA: 99917
Feature /change: t -> g
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1475
Feature /codon: gta -> gga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.99929T>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: IDRefSeq: RPS6KA3_DNA: 99929
Feature /change: t -> g
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1487
Feature /codon: atg -> agg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.102580A>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: IDRefSeq: RPS6KA3_DNA: 102580
Feature /change: a -> t
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1610
Feature /codon: cat -> ctt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.102602C>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: IDRefSeq: RPS6KA3_DNA: 102602
Feature /change: c -> a
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1632
Feature /codon: aac -> aaa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.102729C>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: IDRefSeq: RPS6KA3_DNA: 102729
Feature /change: c -> t
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1759
Feature /codon: cca -> tca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.105888A>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: IDRefSeq: RPS6KA3_DNA: 105888
Feature /change: a -> g
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1858
Feature /codon: aat -> gat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_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.102669C>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: IDRefSeq: RPS6KA3_DNA: 102669
Feature /change: c -> t
Feature /genomic_region: exon; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 1699
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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.81309C>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: IDRefSeq: RPS6KA3_DNA: 81309
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: U08316; GI:1730070; HS08316: 817
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_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 11-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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
Occurrence Families: 1; Patients: 6; Homozygotes:
//
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-Feb-2004 (Rel. 2, Last updated, Version 3)
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)
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: 2; Patients: 2; 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 09-Oct-2003 (Rel. 2, Last updated, Version 1)
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)
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
Occurrence Families: 2; Patients: 2; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 3; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 8; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 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: 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)
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 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; 604373.0011
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
Occurrence Families: 1; Patients: 1; 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 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: 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
Occurrence Families: 1; Patients: 1; 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 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: 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
Occurrence Families: 1; Patients: 1; 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 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; 136350.0005
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
Occurrence Families: 1; Patients: 3; Homozygotes: 0
//
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 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; 136350.0004
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: 1; Patients: 5; Homozygotes: 0
//
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
//
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
Sorry! HERE!!! The nucleotide number 55061 is outside of the reference sequence X66945!
ID FGFR1_Intron 15(2); standard; MUTATION;
Accession K00485
Systematic name g.c.r.
Description An insertion in the intron 0 leading to an amino acid
Description change
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: insertion
Feature /change: +a
Feature /genomic_region: intron; 0
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: downstream
Feature /inexloc: +0
Feature aa; 3
Feature /rnalink: 2
Feature /name: no change
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 16-Feb-2004 (Rel. 2, Last updated, Version 5)
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)
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)
Occurrence Families: 2; Patients: 2; 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 29-Jan-2004 (Rel. 2, Last updated, Version 2)
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)
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)
Occurrence Families: 1; Patients: 1; 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 16-Feb-2004 (Rel. 2, Last updated, Version 5)
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)
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)
Occurrence Families: 3; Patients: 3; 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 21-Jan-2004 (Rel. 2, Last updated, Version 2)
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)
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)
Occurrence Families: 1; Patients: 1; 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 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: 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)
Occurrence Families: 2; Patients: 2; Homozygotes:
//
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 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: 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)
Occurrence Families: 2; Patients: 2; Homozygotes:
//
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 29-Jan-2004 (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: 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
Occurrence Families: 1; Patients: 1; Homozygotes:
//
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 11-Feb-2004 (Rel. 2, Last updated, Version 4)
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)
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
Occurrence Families: 5; Patients: 7; Homozygotes: 0
//
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 13-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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: 1; Patients: 1; 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_Intron 10(1); standard; MUTATION;
Accession K00520
Systematic name g.IVS10+0A>G, c.1425+1A>G, r.1425+1a>g,
Description A point mutation in the intron 10 leading to an amino acid
Description change
Date 26-Jan-2004 (Rel. 2, Created)
Date 29-Jan-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)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U29700: 7160
Feature /change: t -> g
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +0
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Persistent Mllerian duct syndrome, Type II
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
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 30-Jan-2004 (Rel. 2, 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 [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)
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: 2; Patients: 3; 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 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: 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: 1; Patients: 3; 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 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: 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: 1; Patients: 2; 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 13-Feb-2004 (Rel. 2, 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 [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)
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: 3; Patients: 11; 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 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: 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: 1; Patients: 2; 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 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: 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 13-Feb-2004 (Rel. 2, Last updated, Version 3)
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)
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: 3; Patients: 9; 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 13-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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: 1; Patients: 2; 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 13-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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: 1; Patients: 1; 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 13-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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: 1; Patients: 2; 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 13-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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 13-Feb-2004 (Rel. 2, Last updated, Version 2)
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)
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: 1; Patients: 2; 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 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: deletion
Feature /loc: IDRefSeq: BMPR2_DNA: 156230
Feature /change: -a
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1629
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BMR2_HUMAN: 416
Feature /change: I -> ILX
Feature /domain: PK
Diagnosis Primary pulmonary hypertension
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID BMPR2_@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 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: insertion
Feature /loc: IDRefSeq: BMPR2_DNA: 156229
Feature /change: +g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1628
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BMR2_HUMAN: 416
Feature /change: I -> SIYEMYRPLP RGIRTRVPDG FSDRGWKPSH FX
Feature /domain: PK
Diagnosis Primary pulmonary hypertension
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID BMPR2_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 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: 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 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: 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)
Occurrence Families: 1; Patients: 1; 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 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: 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)
Occurrence Families: 2; Patients: 2; 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 05-Feb-2004 (Rel. 2, Last updated, Version 1)
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)
Occurrence Families: 1; Patients: 19; 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 13-Feb-2004 (Rel. 2, Last updated, Version 9)
RefNumber [1]
RefCrossRef PUBMED; 11290608
RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera,
RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F.,
RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M.,
RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda,
RefAuthors R., Ohno, R., Naoe, T.
RefTitle Activating mutation of D835 within the activation loop of
RefTitle FLT3 in human hematologic malignancies.
RefLoc Blood 97:2434-2439 (2001)
RefNumber [2]
RefCrossRef PUBMED; 12239147
RefAuthors Kottaridis, P. D., Gale, R. E., Langabeer, S. E., Frew, M.
RefAuthors E., Bowen, D. T., Linch, D. C.
RefTitle Studies of FLT3 mutations in paired presentation and
RefTitle relapse samples from patients with acute myeloid leukemia:
RefTitle implications for the role of FLT3 mutations in
RefTitle leukemogenesis, minimal residual disease detection, and
RefTitle possible therapy with FLT3 inhibitors.
RefLoc Blood 100:2393-2398 (2002)
RefNumber [3]
RefCrossRef PUBMED; 12551822
RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda,
RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera,
RefAuthors J., Torres, A., Sanz, M. A.
RefTitle Incidence and prognostic value of FLT3 internal tandem
RefTitle duplication and D835 mutations in acute myeloid leukemia.
RefLoc Haematologica 88:19-24 (2003)
RefNumber [4]
RefCrossRef PUBMED; 12692519
RefAuthors Sheikhha, M. H., Awan, A., Tobal, K., Liu Yin, J. A.
RefTitle Prognostic significance of FLT3 ITD and D835 mutations in
RefTitle AML patients.
RefLoc Hematol J 4:41-46 (2003)
RefNumber [5]
RefCrossRef PUBMED; 12750701
RefAuthors Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen,
RefAuthors S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H.
RefTitle FLT3-TKD mutation in childhood acute myeloid leukemia.
RefLoc Leukemia 17:883-886 (2003)
RefNumber [6]
RefCrossRef PUBMED; 14630076
RefAuthors Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C.,
RefAuthors Brunet, S., Aventin, A., Sierra, J.
RefTitle FLT3 mutations are associated with other molecular lesions
RefTitle in AML.
RefLoc Leuk Res 28:19-23 (2004)
RefNumber [7]
RefCrossRef PUBMED; 11442493
RefAuthors Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R.
RefAuthors S., Peake, I. R., Reilly, J. T.
RefTitle Identification of novel FLT-3 asp835 mutations in adult
RefTitle acute myeloid leukaemia.
RefLoc Br J Haematol 113:983-988 (2001)
RefNumber [8]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
DB CrossRef OMIM; 136351.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53109
Feature /change: g -> t
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> Y
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 76; Patients: 76; Homozygotes: 0
//
ID FLT3_D835V(1); standard; MUTATION; PK
Accession K00568
Systematic name g.53110A>T, c.2504A>T, r.2504a>u, p.Asp835Val
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 11290608
RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera,
RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F.,
RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M.,
RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda,
RefAuthors R., Ohno, R., Naoe, T.
RefTitle Activating mutation of D835 within the activation loop of
RefTitle FLT3 in human hematologic malignancies.
RefLoc Blood 97:2434-2439 (2001)
RefNumber [2]
RefCrossRef PUBMED; 12551822
RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda,
RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera,
RefAuthors J., Torres, A., Sanz, M. A.
RefTitle Incidence and prognostic value of FLT3 internal tandem
RefTitle duplication and D835 mutations in acute myeloid leukemia.
RefLoc Haematologica 88:19-24 (2003)
RefNumber [3]
RefCrossRef PUBMED; 12750701
RefAuthors Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen,
RefAuthors S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H.
RefTitle FLT3-TKD mutation in childhood acute myeloid leukemia.
RefLoc Leukemia 17:883-886 (2003)
RefNumber [4]
RefCrossRef PUBMED; 14630076
RefAuthors Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C.,
RefAuthors Brunet, S., Aventin, A., Sierra, J.
RefTitle FLT3 mutations are associated with other molecular lesions
RefTitle in AML.
RefLoc Leuk Res 28:19-23 (2004)
RefNumber [5]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
DB CrossRef OMIM; 136351.0003
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53110
Feature /change: a -> t
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2561
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> V
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 14; Patients: 14; Homozygotes: 0
//
ID FLT3_D835H(1); standard; MUTATION; PK
Accession K00569
Systematic name g.53109G>C, c.2503G>C, r.2503g>c, p.Asp835His
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 11290608
RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera,
RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F.,
RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M.,
RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda,
RefAuthors R., Ohno, R., Naoe, T.
RefTitle Activating mutation of D835 within the activation loop of
RefTitle FLT3 in human hematologic malignancies.
RefLoc Blood 97:2434-2439 (2001)
RefNumber [2]
RefCrossRef PUBMED; 12551822
RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda,
RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera,
RefAuthors J., Torres, A., Sanz, M. A.
RefTitle Incidence and prognostic value of FLT3 internal tandem
RefTitle duplication and D835 mutations in acute myeloid leukemia.
RefLoc Haematologica 88:19-24 (2003)
RefNumber [3]
RefCrossRef PUBMED; 12750701
RefAuthors Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen,
RefAuthors S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H.
RefTitle FLT3-TKD mutation in childhood acute myeloid leukemia.
RefLoc Leukemia 17:883-886 (2003)
RefNumber [4]
RefCrossRef PUBMED; 11442493
RefAuthors Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R.
RefAuthors S., Peake, I. R., Reilly, J. T.
RefTitle Identification of novel FLT-3 asp835 mutations in adult
RefTitle acute myeloid leukaemia.
RefLoc Br J Haematol 113:983-988 (2001)
RefNumber [5]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
DB CrossRef OMIM; 136351.0004
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53109
Feature /change: g -> c
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature /codon: gat -> cat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> H
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 24; Patients: 24; Homozygotes: 0
//
ID FLT3_D835E(1); standard; MUTATION; PK
Accession K00570
Systematic name g.53111T>A, c.2505T>A, r.2505u>a, p.Asp835Glu
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11290608
RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera,
RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F.,
RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M.,
RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda,
RefAuthors R., Ohno, R., Naoe, T.
RefTitle Activating mutation of D835 within the activation loop of
RefTitle FLT3 in human hematologic malignancies.
RefLoc Blood 97:2434-2439 (2001)
RefNumber [2]
RefCrossRef PUBMED; 14630076
RefAuthors Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C.,
RefAuthors Brunet, S., Aventin, A., Sierra, J.
RefTitle FLT3 mutations are associated with other molecular lesions
RefTitle in AML.
RefLoc Leuk Res 28:19-23 (2004)
DB CrossRef OMIM; 136351.0006
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53111
Feature /change: t -> a
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2562
Feature /codon: gat -> gaa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> E
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 4; Patients: 4; Homozygotes: 0
//
ID FLT3_D835N(1); standard; MUTATION; PK
Accession K00571
Systematic name g.53109G>A, c.2503G>A, r.2503g>a, p.Asp835Asn
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11290608
RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera,
RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F.,
RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M.,
RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda,
RefAuthors R., Ohno, R., Naoe, T.
RefTitle Activating mutation of D835 within the activation loop of
RefTitle FLT3 in human hematologic malignancies.
RefLoc Blood 97:2434-2439 (2001)
RefNumber [2]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
DB CrossRef OMIM; 136351.0005
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53109
Feature /change: g -> a
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature /codon: gat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> N
Feature /domain: PK
Diagnosis Acute lymphocytic leukemia
Occurrence Families: 3; Patients: 3; Homozygotes: 0
//
ID FLT3_@I836+1(1); standard; MUTATION; PK
Accession K00572
Systematic name g.53112A>T, c.2506A>T, r.2506a>u, p.Ile836Phe
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11290608
RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera,
RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F.,
RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M.,
RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda,
RefAuthors R., Ohno, R., Naoe, T.
RefTitle Activating mutation of D835 within the activation loop of
RefTitle FLT3 in human hematologic malignancies.
RefLoc Blood 97:2434-2439 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53112
Feature /change: a -> t
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2563
Feature /codon: atc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature /change: I -> F
Feature /domain: PK
Diagnosis Myelodysplastic syndrome
Occurrence Families: 2; Patients: 2; Homozygotes: 0
//
ID FLT3_D835A(1); standard; MUTATION; PK
Accession K00573
Systematic name g.53110A>C, c.2504A>C, r.2504a>c, p.Asp835Ala
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12551822
RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda,
RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera,
RefAuthors J., Torres, A., Sanz, M. A.
RefTitle Incidence and prognostic value of FLT3 internal tandem
RefTitle duplication and D835 mutations in acute myeloid leukemia.
RefLoc Haematologica 88:19-24 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53110
Feature /change: a -> c
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2561
Feature /codon: gat -> gct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> A
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID FLT3_D835E(2); standard; MUTATION; PK
Accession K00574
Systematic name g.53111T>G, c.2505T>G, r.2505u>g, p.Asp835Glu
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12692519
RefAuthors Sheikhha, M. H., Awan, A., Tobal, K., Liu Yin, J. A.
RefTitle Prognostic significance of FLT3 ITD and D835 mutations in
RefTitle AML patients.
RefLoc Hematol J 4:41-46 (2003)
RefNumber [2]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53111
Feature /change: t -> g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2562
Feature /codon: gat -> gag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> E
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Diagnosis
Occurrence Families: 10; Patients: 10; Homozygotes: 0
//
ID FLT3_#D835-1(1); standard; MUTATION; PK
Accession K00575
Systematic name g.53109delG, c.2503delG, r.2503delg, p.Asp835fsX2
Description A frame shift deletion mutation in the exon 19 leading to a
Description premature stop codon in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 11442493
RefAuthors Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R.
RefAuthors S., Peake, I. R., Reilly, J. T.
RefTitle Identification of novel FLT-3 asp835 mutations in adult
RefTitle acute myeloid leukaemia.
RefLoc Br J Haematol 113:983-988 (2001)
DB CrossRef OMIM; 136351.0008
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: FLT3_DNA: 53109
Feature /change: -g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> ISX
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID FLT3_A680V(1); standard; MUTATION; PK
Accession K00576
Systematic name g.43422C>T, c.2039C>T, r.2039c>u, p.Ala680Val
Description A point mutation in the exon 15 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14554237
RefAuthors Piccaluga, P. P., Bianchini, M., Martinelli, G.
RefTitle Novel FLT3 point mutation in acute myeloid leukaemia.
RefLoc Lancet Oncol 4:604 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 43422
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2096
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 680
Feature /change: A -> V
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID FLT3_D835G(1); standard; MUTATION; PK
Accession K00577
Systematic name g.53110A>G, c.2504A>G, r.2504a>g, p.Asp835Gly
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53110
Feature /change: a -> g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2561
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 835
Feature /change: D -> G
Feature /domain: PK
Occurrence Families: 4; Patients: 4; Homozygotes: 0
//
ID FLT3_#I836-1(1); standard; MUTATION; PK
Accession K00578
Systematic name g.53112delA, c.2506delA, r.2506dela, p.Ile836fsX1
Description A frame shift deletion mutation in the exon 19 leading to a
Description premature stop codon in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: FLT3_DNA: 53112
Feature /change: -a
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2563
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature /change: I -> SX
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 13; Patients: 13; Homozygotes: 0
//
ID FLT3_I836T(1); standard; MUTATION; PK
Accession K00579
Systematic name g.53113T>C, c.2507T>C, r.2507u>c, p.Ile836Thr
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT3_DNA: 53113
Feature /change: t -> c
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2564
Feature /codon: atc -> acc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature /change: I -> T
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID FLT3_@I836+1(2); standard; MUTATION; PK
Accession K00580
Systematic name g.53113_53114insG, c.2507_2508insG, r.2507_2508insg,
Systematic name p.Ile836fsX3
Description A frame shift insertion mutation in the exon 19 leading to
Description a premature stop codon in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 05-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12036858
RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel,
RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter,
RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T.
RefTitle Analysis of FLT3-activating mutations in 979 patients with
RefTitle acute myelogenous leukemia: association with FAB subtypes
RefTitle and identification of subgroups with poor prognosis.
RefLoc Blood 99:4326-4335 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: FLT3_DNA: 53114
Feature /change: +g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2565
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: FLT3_HUMAN: 836
Feature /change: I -> MHEX
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID FLT3_@N841+2(1); standard; MUTATION; PK
Accession K00581
Systematic name g.53126_53127insG, c.2520_2521insG, r.2520_2521insg,
Systematic name p.Asn841fsX21
Description A frame shift insertion mutation in the exon 19 leading to
Description a premature stop codon in the PK domain
Date 05-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12384447
RefAuthors Spiekermann, K., Bagrintseva, K., Schoch, C., Haferlach,
RefAuthors T., Hiddemann, W., Schnittger, S.
RefTitle A new and recurrent activating length mutation in exon 20
RefTitle of the FLT3 gene in acute myeloid leukemia.
RefLoc Blood 100:3423-3425 (2002)
DB CrossRef OMIM; 136351.0002
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: FLT3_DNA: 53127
Feature /change: +g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U02687; GI:544320; HS02687: 2578
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: FLT3_HUMAN: 841
Feature /change: N -> ELCCQGQCPS ACKMDGPRKP VX
Feature /domain: PK
Diagnosis Acute myeloid leukemia
Occurrence Families: 2; Patients: 2; Homozygotes: 0
//
ID BMPR1A_M470T(1); standard; MUTATION; PK
Accession K00582
Systematic name g.167795T>C, c.1409T>C, r.1409u>c, p.Met470Thr
Description A point mutation in the exon 12 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12630959
RefAuthors Kim, I. J., Park, J. H., Kang, H. C., Kim, K. H., Kim, J.
RefAuthors H., Ku, J. L., Kang, S. B., Park, S. Y., Lee, J. S., Park,
RefAuthors J. G.
RefTitle Identification of a novel BMPR1A germline mutation in a
RefTitle korean juvenile polyposis patient without SMAD4 mutation.
RefLoc Clin Genet 63:126-130 (2003)
DB CrossRef OMIM; 601299.0008
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: BMPR1A_DNA: 167795
Feature /change: t -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1718
Feature /codon: atg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: BMRA_HUMAN: 470
Feature /change: M -> T
Feature /domain: PK
Diagnosis Juvenile polyposis syndrome
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID GUCY2D_R660Q(1); standard; MUTATION; PK
Accession K00583
Systematic name g.8429G>A, c.1979G>A, r.1979g>a, p.Arg660Gln
Description A point mutation in the exon 10 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12623820
RefAuthors Milam, A. H., Barakat, M. R., Gupta, N., Rose, L., Aleman,
RefAuthors T. S., Pianta, M. J., Cideciyan, A. V., Sheffield, V. C.,
RefAuthors Stone, E. M., Jacobson, S. G.
RefTitle Clinicopathologic effects of mutant GUCY2D in leber
RefTitle congenital amaurosis.
RefLoc Ophthalmology 110:549-558 (2003)
RefNumber [2]
RefCrossRef PUBMED; 10766140
RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G.,
RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C.
RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E.,
RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C.,
RefAuthors Stone, E. M.
RefTitle Mutation analysis of 3 genes in patients with leber
RefTitle congenital amaurosis.
RefLoc Arch Ophthalmol 118:538-543 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 8429
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2052
Feature /codon: cga -> caa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 660
Feature /change: R -> Q
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Diagnosis
Occurrence Families: 2; Patients: 3; Homozygotes: 0
//
ID GUCY2D_F565S(1); standard; MUTATION; PK
Accession K00584
Systematic name g.6858T>C, c.1694T>C, r.1694u>c, p.Phe565Ser
Description A point mutation in the exon 8 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 10951519
RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq,
RefAuthors D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J.
RefAuthors L., Munnich, A., Kaplan, J.
RefTitle Spectrum of retGC1 mutations in leber's congenital
RefTitle amaurosis.
RefLoc Eur J Hum Genet 8:578-582 (2000)
RefNumber [2]
RefCrossRef PUBMED; 8944027
RefAuthors Perrault, I., Rozet, J. M., Calvas, P., Gerber, S.,
RefAuthors Camuzat, A., Dollfus, H., Chxtelin, S., Souied, E., Ghazi,
RefAuthors I., Leowski, C., Bonnemaison, M., Le Paslier, D., Frezal,
RefAuthors J., Dufier, J. L., Pittler, S., Munnich, A., Kaplan, J.
RefTitle Retinal-specific guanylate cyclase gene mutations in
RefTitle leber's congenital amaurosis.
RefLoc Nat Genet 14:461-464 (1996)
DB CrossRef OMIM; 600179.0001
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 6858
Feature /change: t -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1767
Feature /codon: ttc -> tcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 565
Feature /change: F -> S
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 5; Patients: 5; Homozygotes: 3
//
ID GUCY2D_#R602X628(1); standard; MUTATION; PK
Accession K00585
Systematic name g.8156delG, c.1805delG, r.1805delg, p.Gly603fsX33
Description A frame shift deletion mutation in the exon 9 leading to a
Description premature stop codon in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10951519
RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq,
RefAuthors D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J.
RefAuthors L., Munnich, A., Kaplan, J.
RefTitle Spectrum of retGC1 mutations in leber's congenital
RefTitle amaurosis.
RefLoc Eur J Hum Genet 8:578-582 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AJ222657: 8156
Feature /change: -g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1878
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: CYGD_HUMAN: 602
Feature /change: R -> REQKALRPSG RATWLWSQST ARGALFRTSS LREKX
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 1; Patients: 1; Homozygotes: 1
//
ID GUCY2D_R540C(1); standard; MUTATION; PK
Accession K00586
Systematic name g.5311C>T, c.1618C>T, r.1618c>u, p.Arg540Cys
Description A point mutation in the exon 7 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10951519
RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq,
RefAuthors D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J.
RefAuthors L., Munnich, A., Kaplan, J.
RefTitle Spectrum of retGC1 mutations in leber's congenital
RefTitle amaurosis.
RefLoc Eur J Hum Genet 8:578-582 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 5311
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1691
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 540
Feature /change: R -> C
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID GUCY2D_Y746C(1); standard; MUTATION; PK
Accession K00587
Systematic name g.9184A>G, c.2237A>G, r.2237a>g, p.Tyr746Cys
Description A point mutation in the exon 11 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10766140
RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G.,
RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C.
RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E.,
RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C.,
RefAuthors Stone, E. M.
RefTitle Mutation analysis of 3 genes in patients with leber
RefTitle congenital amaurosis.
RefLoc Arch Ophthalmol 118:538-543 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 9184
Feature /change: a -> g
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2310
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 746
Feature /change: Y -> C
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 1; Patients: 1; Homozygotes: 1
//
ID GUCY2D_R660X(1); standard; MUTATION; PK
Accession K00588
Systematic name g.8428C>T, c.1978C>T, r.1978c>u, p.Arg660X
Description A point mutation in the exon 10 leading to a premature stop
Description codon in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10766140
RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G.,
RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C.
RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E.,
RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C.,
RefAuthors Stone, E. M.
RefTitle Mutation analysis of 3 genes in patients with leber
RefTitle congenital amaurosis.
RefLoc Arch Ophthalmol 118:538-543 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 8428
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2051
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: CYGD_HUMAN: 660
Feature /change: R -> X
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID GUCY2D_R768W(1); standard; MUTATION; PK
Accession K00589
Systematic name g.9875C>T, c.2302C>T, r.2302c>u, p.Arg768Trp
Description A point mutation in the exon 12 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10766140
RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G.,
RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C.
RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E.,
RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C.,
RefAuthors Stone, E. M.
RefTitle Mutation analysis of 3 genes in patients with leber
RefTitle congenital amaurosis.
RefLoc Arch Ophthalmol 118:538-543 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 9875
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2375
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 768
Feature /change: R -> W
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 3; Patients: 3; Homozygotes: 0
//
ID GUCY2D_M773L(1); standard; MUTATION; PK
Accession K00590
Systematic name g.9890A>C, c.2317A>C, r.2317a>c, p.Met773Leu
Description A point mutation in the exon 12 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10766140
RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G.,
RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C.
RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E.,
RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C.,
RefAuthors Stone, E. M.
RefTitle Mutation analysis of 3 genes in patients with leber
RefTitle congenital amaurosis.
RefLoc Arch Ophthalmol 118:538-543 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 9890
Feature /change: a -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2390
Feature /codon: atg -> ctg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 773
Feature /change: M -> L
Feature /domain: PK
Diagnosis Leber congenital amaurosis
Occurrence Families: 2; Patients: 2; Homozygotes: 0
//
ID GUCY2D_R838C(1); standard; MUTATION;
Accession K00591
Systematic name g.10656C>T, c.2512C>T, r.2512c>u, p.Arg838Cys
Description A point mutation in the exon 13 leading to an amino acid
Description change
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 4)
RefNumber [1]
RefCrossRef PUBMED; 11709018
RefAuthors Downes, S. M., Payne, A. M., Kelsell, R. E., Fitzke, F.
RefAuthors W., Holder, G. E., Hunt, D. M., Moore, A. T., Bird, A. C.
RefTitle Autosomal dominant cone-rod dystrophy with mutations in
RefTitle the guanylate cyclase 2D gene encoding retinal guanylate
RefTitle cyclase-1.
RefLoc Arch Ophthalmol 119:1667-1673 (2001)
RefNumber [2]
RefCrossRef PUBMED; 9618177
RefAuthors Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault,
RefAuthors I., Kaplan, J., Yang, R. B., Garbers, D. L., Bird, A. C.,
RefAuthors Moore, A. T., Hunt, D. M.
RefTitle Mutations in the retinal guanylate cyclase (RETGC-1) gene
RefTitle in dominant cone-rod dystrophy.
RefLoc Hum Mol Genet 7:1179-1184 (1998)
DB CrossRef OMIM; 600179.0006
DB CrossRef OMIM; 600179.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 10656
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2585
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 838
Feature /change: R -> C
Diagnosis Cone-rod dystrophy
Occurrence Families: 6; Patients: 26; Homozygotes: 0
//
ID GUCY2D_R838H(1); standard; MUTATION;
Accession K00592
Systematic name g.10657G>A, c.2513G>A, r.2513g>a, p.Arg838His
Description A point mutation in the exon 13 leading to an amino acid
Description change
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11709018
RefAuthors Downes, S. M., Payne, A. M., Kelsell, R. E., Fitzke, F.
RefAuthors W., Holder, G. E., Hunt, D. M., Moore, A. T., Bird, A. C.
RefTitle Autosomal dominant cone-rod dystrophy with mutations in
RefTitle the guanylate cyclase 2D gene encoding retinal guanylate
RefTitle cyclase-1.
RefLoc Arch Ophthalmol 119:1667-1673 (2001)
DB CrossRef OMIM; 600179.0008
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 10657
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2586
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 838
Feature /change: R -> H
Diagnosis Cone-rod dystrophy
Occurrence Families: 1; Patients: 3; Homozygotes: 0
//
ID GUCY2D_R838S(1); standard; MUTATION;
Accession K00593
Systematic name g.10656C>A, c.2512C>A, r.2512c>a, p.Arg838Ser
Description A point mutation in the exon 13 leading to an amino acid
Description change
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10647719
RefAuthors Gregory-Evans, K., Kelsell, R. E., Gregory-Evans, C. Y.,
RefAuthors Downes, S. M., Fitzke, F. W., Holder, G. E., Simunovic,
RefAuthors M., Mollon, J. D., Taylor, R., Hunt, D. M., Bird, A. C.,
RefAuthors Moore, A. T.
RefTitle Autosomal dominant cone-rod retinal dystrophy (CORD6) from
RefTitle heterozygous mutation of GUCY2D, which encodes retinal
RefTitle guanylate cyclase.
RefLoc Ophthalmology 107:55-61 (2000)
DB CrossRef OMIM; 600179.0005
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 10656
Feature /change: c -> a
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2585
Feature /codon: cgc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 838
Feature /change: R -> S
Diagnosis Cone-rod dystrophy
Occurrence Families: 1; Patients: 15; Homozygotes: 0
//
ID GUCY2D_E837D(1); standard; MUTATION;
Accession K00594
Systematic name g.10655G>C, c.2511G>C, r.2511g>c, p.Glu837Asp
Description A point mutation in the exon 13 leading to an amino acid
Description change
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 10647719
RefAuthors Gregory-Evans, K., Kelsell, R. E., Gregory-Evans, C. Y.,
RefAuthors Downes, S. M., Fitzke, F. W., Holder, G. E., Simunovic,
RefAuthors M., Mollon, J. D., Taylor, R., Hunt, D. M., Bird, A. C.,
RefAuthors Moore, A. T.
RefTitle Autosomal dominant cone-rod retinal dystrophy (CORD6) from
RefTitle heterozygous mutation of GUCY2D, which encodes retinal
RefTitle guanylate cyclase.
RefLoc Ophthalmology 107:55-61 (2000)
RefNumber [2]
RefCrossRef PUBMED; 9618177
RefAuthors Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault,
RefAuthors I., Kaplan, J., Yang, R. B., Garbers, D. L., Bird, A. C.,
RefAuthors Moore, A. T., Hunt, D. M.
RefTitle Mutations in the retinal guanylate cyclase (RETGC-1) gene
RefTitle in dominant cone-rod dystrophy.
RefLoc Hum Mol Genet 7:1179-1184 (1998)
DB CrossRef OMIM; 600179.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 10655
Feature /change: g -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2584
Feature /codon: gag -> gac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 837
Feature /change: E -> D
Diagnosis Cone-rod dystrophy
Occurrence Families: 2; Patients: 25; Homozygotes: 0
//
ID GUCY2D_837(1); standard; MUTATION;
Accession K00595
Systematic name g.10655G>C, c.2511G>C, r.2511g>c, p.Glu837Asp
Description A point mutation in the exon 13 leading to an amino acid
Description change
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9683616
RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Kelsell, R. E.,
RefAuthors Souied, E., Cabot, A., Hunt, D. M., Munnich, A., Kaplan,
RefAuthors J.
RefTitle A retGC-1 mutation in autosomal dominant cone-rod
RefTitle dystrophy.
RefLoc Am J Hum Genet 63:651-654 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AJ222657: 10655
Feature /change: g -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2584
Feature /codon: gag -> gac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: CYGD_HUMAN: 837
Feature /change: E -> D
Diagnosis Cone-rod dystrophy
Occurrence Families: 1; Patients: 6; Homozygotes: 0
//
ID PHKG2_D215N(1); standard; MUTATION; PK
Accession K00596
Systematic name g.8867G>A, c.643G>A, r.643g>a, p.Asp215Asn
Description A point mutation in the exon 7 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12930917
RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A.,
RefAuthors Chakraborty, P. K., Kilimann, M. W.
RefTitle Severe phenotype of phosphorylase kinase-deficient liver
RefTitle glycogenosis with mutations in the PHKG2 gene.
RefLoc Pediatr Res 54:834-839 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 8867
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 736
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KPBH_HUMAN: 215
Feature /change: D -> N
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_W300X(1); standard; MUTATION;
Accession K00597
Systematic name g.9287G>A, c.900G>A, r.900g>a, p.Trp300X
Description A point mutation in the exon 9 leading to a premature stop
Description codon
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12930917
RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A.,
RefAuthors Chakraborty, P. K., Kilimann, M. W.
RefTitle Severe phenotype of phosphorylase kinase-deficient liver
RefTitle glycogenosis with mutations in the PHKG2 gene.
RefLoc Pediatr Res 54:834-839 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 9287
Feature /change: g -> a
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 993
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: KPBH_HUMAN: 300
Feature /change: W -> X
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
Comment -!-In the same patient with K00598: H89X
//
ID PHKG2_#H89X109(1); standard; MUTATION; PK
Accession K00598
Systematic name g.3875delA, c.266delA, r.266dela, p.His89fsX20
Description A frame shift deletion mutation in the exon 3 leading to a
Description premature stop codon in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12930917
RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A.,
RefAuthors Chakraborty, P. K., Kilimann, M. W.
RefTitle Severe phenotype of phosphorylase kinase-deficient liver
RefTitle glycogenosis with mutations in the PHKG2 gene.
RefLoc Pediatr Res 54:834-839 (2003)
DB CrossRef OMIM; 172471.0001
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: PHKG2_DNA: 3875
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 359
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: KPBH_HUMAN: 89
Feature /change: H -> PSSPSSIPTS LLASCSWCLT X
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_E157K(1); standard; MUTATION; PK
Accession K00599
Systematic name g.6069G>A, c.469G>A, r.469g>a, p.Glu157Lys
Description A point mutation in the exon 6 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 06-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12930917
RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A.,
RefAuthors Chakraborty, P. K., Kilimann, M. W.
RefTitle Severe phenotype of phosphorylase kinase-deficient liver
RefTitle glycogenosis with mutations in the PHKG2 gene.
RefLoc Pediatr Res 54:834-839 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 6069
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 562
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KPBH_HUMAN: 157
Feature /change: E -> K
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_#L93X109(1); standard; MUTATION; PK
Accession K00600
Systematic name g.4153delC, c.277delC, r.277delc, p.Leu93fsX16
Description A frame shift deletion mutation in the exon 4 leading to a
Description premature stop codon in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9384616
RefAuthors Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W.
RefTitle Liver glycogenosis due to phosphorylase kinase deficiency:
RefTitle PHKG2 gene structure and mutations associated with
RefTitle cirrhosis.
RefLoc Hum Mol Genet 7:149-154 (1998)
DB CrossRef OMIM; 172471.0005
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: PHKG2_DNA: 4153
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 370
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: KPBH_HUMAN: 93
Feature /change: L -> SSIPTSLLAS CSWCLTX
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_R44X(1); standard; MUTATION; PK
Accession K00601
Systematic name g.3739C>T, c.130C>T, r.130c>u, p.Arg44X
Description A point mutation in the exon 3 leading to a premature stop
Description codon in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9384616
RefAuthors Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W.
RefTitle Liver glycogenosis due to phosphorylase kinase deficiency:
RefTitle PHKG2 gene structure and mutations associated with
RefTitle cirrhosis.
RefLoc Hum Mol Genet 7:149-154 (1998)
DB CrossRef OMIM; 172471.0004
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 3739
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 223
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: KPBH_HUMAN: 44
Feature /change: R -> X
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_H145Y(1); standard; MUTATION; PK
Accession K00602
Systematic name g.6033C>T, c.433C>T, r.433c>u, p.His145Tyr
Description A point mutation in the exon 6 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 9245685
RefAuthors van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann,
RefAuthors R., Berger, R., van den Berg, I. E.
RefTitle Autosomal recessive liver phosphorylase kinase deficiency
RefTitle caused by a novel splice-site mutation in the gene
RefTitle encoding the liver gamma subunit (PHKG2).
RefLoc Biochem Biophys Res Commun 236:544-548 (1997)
RefNumber [2]
RefCrossRef PUBMED; 10905889
RefAuthors Burwinkel, B., Tanner, M. S., Kilimann, M. W.
RefTitle Phosphorylase kinase deficient liver glycogenosis:
RefTitle progression to cirrhosis in infancy associated with PHKG2
RefTitle mutations (H144Y and L225R)
RefLoc J Med Genet 37:376-377 (2000)
DB CrossRef OMIM; 172471.0006
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 6033
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 526
Feature /codon: cat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KPBH_HUMAN: 145
Feature /change: H -> Y
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 2; Patients: 2; Homozygotes: 0
//
ID PHKG2_L226R(1); standard; MUTATION; PK
Accession K00603
Systematic name g.8995T>G, c.677T>G, r.677u>g, p.Leu226Arg
Description A point mutation in the exon 8 leading to an amino acid
Description change in the PK domain
Date 06-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9245685
RefAuthors van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann,
RefAuthors R., Berger, R., van den Berg, I. E.
RefTitle Autosomal recessive liver phosphorylase kinase deficiency
RefTitle caused by a novel splice-site mutation in the gene
RefTitle encoding the liver gamma subunit (PHKG2).
RefLoc Biochem Biophys Res Commun 236:544-548 (1997)
RefNumber [2]
RefCrossRef PUBMED; 10905889
RefAuthors Burwinkel, B., Tanner, M. S., Kilimann, M. W.
RefTitle Phosphorylase kinase deficient liver glycogenosis:
RefTitle progression to cirrhosis in infancy associated with PHKG2
RefTitle mutations (H144Y and L225R)
RefLoc J Med Genet 37:376-377 (2000)
DB CrossRef OMIM; 172471.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 8995
Feature /change: t -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 770
Feature /codon: ctc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KPBH_HUMAN: 226
Feature /change: L -> R
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 2; Patients: 2; Homozygotes: 0
//
ID INSR_R1027X(1); standard; MUTATION; PK
Accession K00604
Systematic name g.169430C>T, c.3079C>T, r.3079c>u, p.Arg1027X
Description A point mutation in the exon 17 leading to a premature stop
Description codon in the PK domain
Date 10-Feb-2004 (Rel. 2, Created)
Date 10-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 2365819
RefAuthors Kadowaki, T., Kadowaki, H., Rechler, M. M., Serrano-Rios,
RefAuthors M., Roth, J., Gorden, P., Taylor, S. I.
RefTitle Five mutant alleles of the insulin receptor gene in
RefTitle patients with genetic forms of insulin resistance.
RefLoc J Clin Invest 86:254-264 (1990)
DB CrossRef OMIM; 147670.0013
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: INSR_DNA: 169430
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M10051; GI:33112647; M10051: 3217
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: INSR_HUMAN: 1027
Feature /change: R -> X
Feature /domain: PK
Diagnosis Insulin resistance
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID JAK3_#K733X794(1); standard; MUTATION; PK1
Accession K00605
Systematic name g.14140delG, c.2199delG, r.2199delg, p.Lys734fsX21
Description A frame shift deletion mutation in the exon 16 leading to a
Description premature stop codon in the PK1 domain
Date 10-Feb-2004 (Rel. 2, Created)
Date 10-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7659163
RefAuthors Macchi, P., Villa, A., Giliani, S., Sacco, M. G.,
RefAuthors Frattini, A., Porta, F., Ugazio, A. G., Johnston, J. A.,
RefAuthors Candotti, F., O'Shea, J. J.
RefTitle Mutations of jak-3 gene in patients with autosomal severe
RefTitle combined immune deficiency (SCID).
RefLoc Nature 377:65-68 (1995)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: JAK3_DNA: 14140
Feature /change: -g
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U09607; GI:1708581; U09607: 2294
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: JAK3_HUMAN: 733
Feature /change: K -> KNSNFMRTGS SCRPPSGQSW PCX
Feature /domain: PK1
Diagnosis T-negative/B-positive type severe combined immunodeficiency
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID RET_S904C(1); standard; MUTATION; PK
Accession K00606
Systematic name g.44121C>G, c.2711C>G, r.2711c>g, p.Ser904Cys
Description A point mutation in the exon 15 leading to an amino acid
Description change in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11788682
RefAuthors Menko, F. H., van der Luijt, R. B., de Valk, I. A.,
RefAuthors Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C.
RefAuthors J.
RefTitle Atypical MEN type 2B associated with two germline RET
RefTitle mutations on the same allele not involving codon 918.
RefLoc J Clin Endocrinol Metab 87:393-397 (2002)
DB CrossRef OMIM; 164761.0043
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RET_DNA: 44121
Feature /change: c -> g
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2906
Feature /codon: tcc -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: RET_HUMAN: 904
Feature /change: S -> C
Feature /domain: PK
Diagnosis Multiple endocrine neoplasia type II
Occurrence Families: 1; Patients: 4; Homozygotes: 0
Comment -!-4 members of a family holds also a V804M mutation in the
Comment -!-same allele
//
ID STK11_#V66X152(1); standard; MUTATION; PK
Accession K00607
Systematic name g.1198delG, c.198delG, r.198delg, p.Leu67fsX28
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9428765
RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E.,
RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff,
RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K.,
RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W.,
RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la
RefAuthors Chapelle, A., Aaltonen, L. A.
RefTitle A serine/threonine kinase gene defective in peutz-jeghers
RefTitle syndrome.
RefLoc Nature 391:184-187 (1998)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: STK11_DNA: 1198
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 536
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: STKB_HUMAN: 66
Feature /change: V -> VWTRRRCAGG PSRSSRRRSC EGSPTGRPTX
Feature /domain: PK
Diagnosis Peutz-Jeghers syndrome (PJS)
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID STK11_#D277X283(1); standard; MUTATION; PK
Accession K00608
Systematic name g.15396delC, c.831delC, r.831delc, p.Cys278fsX8
Description A frame shift deletion mutation in the exon 6 leading to a
Description premature stop codon in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9428765
RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E.,
RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff,
RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K.,
RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W.,
RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la
RefAuthors Chapelle, A., Aaltonen, L. A.
RefTitle A serine/threonine kinase gene defective in peutz-jeghers
RefTitle syndrome.
RefLoc Nature 391:184-187 (1998)
DB CrossRef OMIM; 602216.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: STK11_DNA: 15396
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1169
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: STKB_HUMAN: 277
Feature /change: D -> DVAPRSLTCX
Feature /domain: PK
Diagnosis Peutz-Jeghers syndrome (PJS)
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID STK11_@V66X162(1); standard; MUTATION; PK
Accession K00609
Systematic name g.1197dupT, c.197dupT, r.197dupu, p.Leu67fsX95
Description A frame shift duplication mutation in the exon 1 leading to
Description a premature stop codon in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10217080
RefAuthors Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P.,
RefAuthors Koole, R., van Velthuysen, M. L., Offerhaus, G. J.,
RefAuthors Lindhout, D., de Rooij, F. W., Wilson, J. H.
RefTitle Peutz-jeghers syndrome: 78-year follow-up of the original
RefTitle family.
RefLoc Lancet 353:1211-1215 (1999)
DB CrossRef OMIM; 602216.0014
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: STK11_DNA: 1198
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 536
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: STKB_HUMAN: 66
Feature /change: V ->
Feature /change: VAGLGDAVQE GRQDPQEEEV AKDPQRGGQR EEGNSTTEEV
Feature /change: TAQKCHPAGG CVIQRREAEN VYGDGVLRVW HAGNAGQRAG
Feature /change: EAFPSVPGPR VLLSADX
Feature /domain: PK
Diagnosis Peutz-Jeghers syndrome (PJS)
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID STK11_#P217X286(1); standard; MUTATION; PK
Accession K00610
Systematic name g.14720delC, c.650delC, r.650delc, p.Pro217fsX69
Description A frame shift deletion mutation in the exon 5 leading to a
Description premature stop codon in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10362809
RefAuthors Su, G. H., Hruban, R. H., Bansal, R. K., Bova, G. S.,
RefAuthors Tang, D. J., Shekher, M. C., Westerman, A. M., Entius, M.
RefAuthors M., Goggins, M., Yeo, C. J., Kern, S. E.
RefTitle Germline and somatic mutations of the STK11/LKB1 peutz-
RefTitle jeghers gene in pancreatic and biliary cancers.
RefLoc Am J Pathol 154:1835-1840 (1999)
DB CrossRef OMIM; 602216.0016
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: STK11_DNA: 14720
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 988
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: STKB_HUMAN: 217
Feature /change: P ->
Feature /change: RLSSRPRLPT AWTPSPASRW TSGRLGSPST TSPRVCTPSK
Feature /change: GTTSTSCLRT SGRGATPSRA TVAPRSLTCX
Feature /domain: PK
Diagnosis Pancreatic cancer
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID STK11_W239C(1); standard; MUTATION; PK
Accession K00611
Systematic name g.14787G>C, c.717G>C, r.717g>c, p.Trp239Cys
Description A point mutation in the exon 5 leading to an amino acid
Description change in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12372054
RefAuthors Scott, R. J., Crooks, R., Meldrum, C. J., Thomas, L.,
RefAuthors Smith, C. J., Mowat, D., McPhillips, M., Spigelman, A. D.
RefTitle Mutation analysis of the STK11/LKB1 gene and clinical
RefTitle characteristics of an australian series of peutz-jeghers
RefTitle syndrome patients.
RefLoc Clin Genet 62:282-287 (2002)
DB CrossRef OMIM; 602216.0021
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: STK11_DNA: 14787
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1055
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: STKB_HUMAN: 239
Feature /change: W -> C
Feature /domain: PK
Diagnosis Peutz-Jeghers syndrome (PJS)
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID ACVRL1_I398N(1); standard; MUTATION; PK
Accession K00612
Systematic name g.4706T>A, c.1193T>A, r.1193u>a, p.Ile398Asn
Description A point mutation in the exon 7 leading to an amino acid
Description change in the PK domain
Date 11-Feb-2004 (Rel. 2, Created)
Date 11-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11170071
RefAuthors Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T.,
RefAuthors Rasmussen, K., Green, A., Vase, P.
RefTitle Mutations in the ALK-1 gene and the phenotype of
RefTitle hereditary hemorrhagic telangiectasia in two large danish
RefTitle families.
RefLoc Am J Med Genet 98:298-302 (2001)
DB CrossRef OMIM; 601284.0006
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: ACVRL1_DNA: 4706
Feature /change: t -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1475
Feature /codon: atc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KIR3_HUMAN: 398
Feature /change: I -> N
Feature /domain: PK
Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2)
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID RPS6KA3_#A136X147(1); standard; MUTATION; PK1
Accession K00613
Systematic name g.73365delC, c.407delC, r.407delc, p.Ala136fsX27
Description A frame shift deletion mutation in the exon 6 leading to a
Description premature stop codon in the PK1 domain
Date 13-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8955270
RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S.,
RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P.,
RefAuthors Hanauer, A.
RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry
RefTitle syndrome.
RefLoc Nature 384:567-570 (1996)
DB CrossRef OMIM; 300075.0001
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RPS6KA3_DNA: 73365
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 407
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_HUMAN: 136
Feature /change: A -> VFKLKGSCIL FWIFSGEEIC LHAYPKRX
Feature /domain: PK1
Diagnosis Coffin-Lowry syndrome
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID RPS6KA3_#R151X175(1); standard; MUTATION; PK1
Accession K00614
Systematic name g.73409delA, c.451delA, r.451dela, p.Arg151fsX12
Description A frame shift deletion mutation in the exon 6 leading to a
Description premature stop codon in the PK1 domain
Date 13-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10094187
RefAuthors Abidi, F., Jacquot, S., Lassiter, C., Trivier, E.,
RefAuthors Hanauer, A., Schwartz, C. E.
RefTitle Novel mutations in rsk-2, the gene for coffin-lowry
RefTitle syndrome (CLS).
RefLoc Eur J Hum Genet 7:20-26 (1999)
DB CrossRef OMIM; 300075.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: RPS6KA3_DNA: 73409
Feature /change: -a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 451
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: K6A3_HUMAN: 151
Feature /change: R -> GEEICLHAYP KRX
Feature /domain: PK1
Diagnosis Coffin-Lowry syndrome
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID RPS6KA3_F268S(1); standard; MUTATION; PK1
Accession K00615
Systematic name g.81295T>C, c.803T>C, r.803u>c, p.Phe268Ser
Description A point mutation in the exon 10 leading to an amino acid
Description change in the PK1 domain
Date 13-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 000000000
RefAuthors Martinez-Garay, I.; Ballesta, M. J.; Oltra, S.; Orellana, C.;
RefAuthors Palomeque, A.; Molto, M. D.; Prieto, F.; Martinez, F.
RefTitle Intronic L1 insertion and F268S, novel mutations
RefTitle in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
RefLoc Clin. Genet. 64: 491-496 (2003)
DB CrossRef OMIM; 300075.0017
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: RPS6KA3_DNA: 81295
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U08316; GI:1730070; HS08316: 803
Feature /codon: ttc -> tcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: K6A3_HUMAN: 268
Feature /change: F -> S
Feature /domain: PK1
Diagnosis Coffin-Lowry syndrome
Occurrence Families: 3; Patients: 3; Homozygotes: 0
Comment -!-Two of the patients were monozygotic twins
//
ID FLT4_P954S(1); standard; MUTATION; PK
Accession K00616
Systematic name g.31635C>T, c.2860C>T, r.2860c>u, p.Pro954Ser
Description A point mutation in the exon 21 leading to an amino acid
Description change in the PK domain
Date 13-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11807987
RefAuthors Walter, J. W., North, P. E., Waner, M., Mizeracki, A.,
RefAuthors Blei, F., Walker, J. W., Reinisch, J. F., Marchuk, D. A.
RefTitle Somatic mutation of vascular endothelial growth factor
RefTitle receptors in juvenile hemangioma.
RefLoc Genes Chromosomes Cancer 33:295-303 (2002)
DB CrossRef OMIM; 136352.0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: FLT4_DNA: 31635
Feature /change: c -> t
Feature /genomic_region: exon; 21
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2881
Feature /codon: ccc -> tcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: VGR3_HUMAN: 954
Feature /change: P -> S
Feature /domain: PK
Diagnosis Juvenile hemangioma
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_G189E(1); standard; MUTATION; PK
Accession K00617
Systematic name g.8790G>A, c.566G>A, r.566g>a, p.Gly189Glu
Description A point mutation in the exon 7 leading to an amino acid
Description change in the PK domain
Date 13-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8896567
RefAuthors Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O.,
RefAuthors Kilimann, M. W.
RefTitle Mutations in the testis/liver isoform of the phosphorylase
RefTitle kinase gamma subunit (PHKG2) cause autosomal liver
RefTitle glycogenosis in the gsd rat and in humans.
RefLoc Nat Genet 14:337-340 (1996)
DB CrossRef OMIM; 172471.0002
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 8790
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 659
Feature /codon: ggg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KPBH_HUMAN: 189
Feature /change: G -> E
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID PHKG2_V106E(1); standard; MUTATION; PK
Accession K00618
Systematic name g.4193T>A, c.317T>A, r.317u>a, p.Val106Glu
Description A point mutation in the exon 4 leading to an amino acid
Description change in the PK domain
Date 13-Feb-2004 (Rel. 2, Created)
Date 13-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8896567
RefAuthors Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O.,
RefAuthors Kilimann, M. W.
RefTitle Mutations in the testis/liver isoform of the phosphorylase
RefTitle kinase gamma subunit (PHKG2) cause autosomal liver
RefTitle glycogenosis in the gsd rat and in humans.
RefLoc Nat Genet 14:337-340 (1996)
DB CrossRef OMIM; 172471.0003
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: PHKG2_DNA: 4193
Feature /change: t -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M31606; GI:125536; HSPHK: 410
Feature /codon: gtg -> gag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: KPBH_HUMAN: 106
Feature /change: V -> E
Feature /domain: PK
Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis
Occurrence Families: 1; Patients: 1; Homozygotes: 0
//
ID LTK_E763K(1); standard; MUTATION; PK
Accession K00619
Systematic name g.10479G>A, c.2287G>A, r.2287g>a, p.Glu763Lys
Description A point mutation in the exon 19 leading to an amino acid
Description change in the PK domain
Date 18-Feb-2004 (Rel. 2, Created)
Date 18-Feb-2004 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14695357
RefAuthors Li, N., Nakamura, K., Jiang, Y., Tsurui, H., Matsuoka, S.,
RefAuthors Abe, M., Ohtsuji, M., Nishimura, H., Kato, K., Kawai, T.,
RefAuthors Atsumi, T., Koike, T., Shirai, T., Ueno, H., Hirose, S.
RefTitle Gain-of-function polymorphism in mouse and human ltk:
RefTitle implications for the pathogenesis of systemic lupus
RefTitle erythematosus.
RefLoc Hum Mol Genet 13:171-179 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: LTK_DNA: 10479
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: D16105; GI:440855; D16105 : 2384
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: HSLTKLP2: 763
Feature /change: E -> K
Feature /domain: PK
Diagnosis Systemic lupus erythematosus
Occurrence Families: 11; Patients: 11; Homozygotes: 0
Comment -!-Polimorphism, which frequency is significantly higher in
Comment -!-SLE patients than in controlThe mutant allele
Comment -!-constitutively activates the PI3K pthway
//