ID TGFBR2_R537P(1); standard; MUTATION; PK Accession K00001 Systematic name g.85628G>C, c.1610G>C, r.1610g>c, p.Arg537Pro Original code K331 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7664267 RefAuthors Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., RefAuthors Gesmonde, J., Vellucci, V. F., Reiss, M. RefTitle Missense mutations of the transforming growth factor beta RefTitle type II receptor in human head and neck squamous carcinoma RefTitle cells. RefLoc Cancer Res 55:3982-3987 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85628 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3182 Feature /codon: cgc -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 537 Feature /change: R -> P Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_E526Q(1); standard; MUTATION; PK Accession K00002 Systematic name g.85594G>C, c.1576G>C, r.1576g>c, p.Glu526Gln Original code K332 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7664267 RefAuthors Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., RefAuthors Gesmonde, J., Vellucci, V. F., Reiss, M. RefTitle Missense mutations of the transforming growth factor beta RefTitle type II receptor in human head and neck squamous carcinoma RefTitle cells. RefLoc Cancer Res 55:3982-3987 (1995) DB CrossRef OMIM; 190182.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85594 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3148 Feature /codon: gag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 526 Feature /change: E -> Q Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_T458A(1); standard; MUTATION; PK Accession K00003 Systematic name g.68345A>G, c.1372A>G, r.1372a>g, p.Thr458Ala Original code K61 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9589477 RefAuthors Yasumi, K., Guo, R. J., Hanai, H., Arai, H., Kaneko, E., RefAuthors Konno, H., Takenoshita, S., Hagiwara, K., Sugimura, H. RefTitle Transforming growth factor beta type II receptor (TGF beta RefTitle RII) mutation in gastric lymphoma without mutator RefTitle phenotype. RefLoc Pathol Int 48:134-137 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68345 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2944 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 458 Feature /change: T -> A Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_T315M(1); standard; MUTATION; PK Accession K00004 Systematic name g.66250C>T, c.944C>T, r.944c>u, p.Thr315Met Original code K63 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9590282 RefAuthors Lu, S. L., Kawabata, M., Imamura, T., Akiyama, Y., Nomizu, RefAuthors T., Miyazono, K., Yuasa, Y. RefTitle HNPCC associated with germline mutation in the TGF-beta RefTitle type II receptor gene. RefLoc Nat Genet 19:17-18 (1998) RefNumber [6] RefCrossRef PUBMED; 16283890 RefAuthors Ki, C. S., Jin, D. K., Chang, S. H., Kim, J. E., Kim, J. RefAuthors W., Park, B. K., Choi, J. H., Park, I. S., Yoo, H. W. RefTitle Identification of a novel TGFBR2 gene mutation in a Korean RefTitle patient with Loeys-Dietz aortic aneurysm syndrome; no RefTitle mutation in TGFBR2 gene in 30 patients with classic RefTitle Marfan's syndrome. RefLoc Clin Genet 68:561-3 DB CrossRef OMIM; 190182.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66250 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2516 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 315 Feature /change: T -> M Feature /domain: PK Diagnosis Hereditary nonpolyposis colorectal cancer Diagnosis Loeys-Dietz syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TGFBR2_D405G(1); standard; MUTATION; PK Accession K00005 Systematic name g.66520A>G, c.1214A>G, r.1214a>g, p.Asp405Gly Original code K62 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8668164 RefAuthors Knaus, P. I., Lindemann, D., DeCoteau, J. F., Perlman, R., RefAuthors Yankelev, H., Hille, M., Kadin, M. E., Lodish, H. F. RefTitle A dominant inhibitory mutant of the type II transforming RefTitle growth factor beta receptor in the malignant progression RefTitle of a cutaneous T-cell lymphoma. RefLoc Mol Cell Biol 16:3480-3489 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66520 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2786 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 405 Feature /change: D -> G Feature /domain: PK Diagnosis Cutaneous T-cell lymphoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_S227A(1); standard; MUTATION; PK1 Accession K00006 Systematic name g.80178T>G, c.679T>G, r.679u>g, p.Ser227Ala Original code K318 Description A point mutation in the exon 9 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) DB CrossRef OMIM; 300075.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80178 Feature /change: t -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 679 Feature /codon: tct -> gct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 227 Feature /change: S -> A Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_G75V(1); standard; MUTATION; PK1 Accession K00007 Systematic name g.58794G>T, c.224G>T, r.224g>u, p.Gly75Val Original code K317 Description A point mutation in the exon 3 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) RefNumber [9] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with Coffin-Lowry syndrome. RefLoc Hum Mutat 17:103-16 DB CrossRef OMIM; 300075.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58794 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 224 Feature /codon: ggg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 75 Feature /change: G -> V Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_W645X(1); standard; MUTATION; PK2 Accession K00008 Systematic name g.106432G>A, c.1934G>A, r.1934g>a, p.Trp645X Original code K307 Description A point mutation in the exon 20 leading to a premature stop Description codon in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 106432 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1934 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 645 Feature /change: W -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_V82F(1); standard; MUTATION; PK1 Accession K00009 Systematic name g.63998G>T, c.244G>T, r.244g>u, p.Val82Phe Original code K294 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) DB CrossRef OMIM; 300075.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 63998 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 244 Feature /codon: gtt -> ttt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 82 Feature /change: V -> F Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R558X(1); standard; MUTATION; PK2 Accession K00010 Systematic name g.103110C>T, c.1672C>T, r.1672c>u, p.Arg558X Original code K306 Description A point mutation in the exon 18 leading to a premature stop Description codon in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) RefNumber [2] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103110 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1672 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 558 Feature /change: R -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RPS6KA3_R514X(1); standard; MUTATION; PK2 Accession K00011 Systematic name g.100450C>T, c.1540C>T, r.1540c>u, p.Arg514X Original code K305 Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100450 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1540 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 514 Feature /change: R -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R305X(1); standard; MUTATION; PK1 Accession K00012 Systematic name g.91084C>T, c.913C>T, r.913c>u, p.Arg305X Original code K303 Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91084 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 913 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 305 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R273X(1); standard; MUTATION; PK1 Accession K00013 Systematic name g.81777C>T, c.817C>T, r.817c>u, p.Arg273X Original code K302 Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81777 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 817 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 273 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R112X(1); standard; MUTATION; PK1 Accession K00014 Systematic name g.72964C>T, c.334C>T, r.334c>u, p.Arg112X Original code K299 Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72964 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 334 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 112 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R110X(1); standard; MUTATION; PK1 Accession K00015 Systematic name g.72958C>T, c.328C>T, r.328c>u, p.Arg110X Original code K298 Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72958 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 328 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 110 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#M99X102(1); standard; MUTATION; PK1 Accession K00016 Systematic name g.64050delT, c.296delT, r.296delu, p.Met99fsX3 Original code K295 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64050 Feature /change: -t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 296 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 99 Feature /change: M -> RRYX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#I88X99(1); standard; MUTATION; PK1 Accession K00017 Systematic name g.64016delA, c.262delA, r.262dela, p.Ile88fsX11 Original code K296 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64016 Feature /change: -a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 262 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 88 Feature /change: I -> SQALMLGSFM PX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_H127Q(1); standard; MUTATION; PK1 Accession K00018 Systematic name g.73011T>G, c.381T>G, r.381u>g, p.His127Gln Original code K297 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73011 Feature /change: t -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 381 Feature /codon: cat -> cag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 127 Feature /change: H -> Q Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_G431D(1); standard; MUTATION; PK2 Accession K00019 Systematic name g.95294G>A, c.1292G>A, r.1292g>a, p.Gly431Asp Original code K304 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95294 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1292 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 431 Feature /change: G -> D Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_D154Y(1); standard; MUTATION; PK1 Accession K00020 Systematic name g.73886G>T, c.460G>T, r.460g>u, p.Asp154Tyr Original code K300 Description A point mutation in the exon 6 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73886 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 460 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 154 Feature /change: D -> Y Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_A225V(1); standard; MUTATION; PK1 Accession K00021 Systematic name g.80173C>T, c.674C>T, r.674c>u, p.Ala225Val Original code K301 Description A point mutation in the exon 9 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80173 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 674 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 225 Feature /change: A -> V Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_Y806C(1); standard; MUTATION; PK Accession K00022 Systematic name g.43492A>G, c.2417A>G, r.2417a>g, p.Tyr806Cys Original code K310 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10076558 RefAuthors Miyauchi, A., Futami, H., Hai, N., Yokozawa, T., Kuma, K., RefAuthors Aoki, N., Kosugi, S., Sugano, K., Yamaguchi, K. RefTitle Two germline missense mutations at codons 804 and 806 of RefTitle the RET proto-oncogene in the same allele in a patient RefTitle with multiple endocrine neoplasia type 2B without codon RefTitle 918 mutation. RefLoc Jpn J Cancer Res 90:1-5 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43492 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2612 Feature /codon: tac -> tgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 806 Feature /change: Y -> C Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID RET_Y791F(1); standard; MUTATION; PK Accession K00023 Systematic name g.42397A>T, c.2372A>T, r.2372a>u, p.Tyr791Phe Original code K313 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 9506724 RefAuthors Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, RefAuthors P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. RefTitle A new hot spot for mutations in the ret protooncogene RefTitle causing familial medullary thyroid carcinoma and multiple RefTitle endocrine neoplasia type 2A. RefLoc J Clin Endocrinol Metab 83:770-774 (1998) RefNumber [2] RefCrossRef PUBMED; 12566528 RefAuthors Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., RefAuthors Roesner, D., Schackert, H. K. RefTitle Association of germline mutations and polymorphisms of the RefTitle RET proto-oncogene with idiopathic congenital central RefTitle hypoventilation syndrome in 33 patients. RefLoc J Med Genet 40:E10 (2003) RefNumber [3] RefCrossRef PUBMED; 16388093 RefAuthors Arum, S. M., Dahia, P. L., Schneider, K., Braverman, L. E. RefTitle A RET mutation with decreased penetrance in the family of RefTitle a patient with a 'sporadic' pheochromocytoma. RefLoc Endocrine:193-198 (2005) RefNumber [4] RefCrossRef PUBMED; 16356097 RefAuthors Vierhapper, H., Rondot, S., Schulze, E., Wagner, L., RefAuthors Hanslik, S., Niederle, B., Bieglmayer, C., Kaserer, K., RefAuthors Baumgartner-Parzer, S. RefTitle Primary hyperparathyroidism as the leading symptom in a RefTitle patient with a Y791F RET mutation. RefLoc Thyroid:1303-1308 (2005) RefNumber [9] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [13] RefCrossRef PUBMED; 19745057 RefAuthors Margraf, R. L., Calderon, F. R., Mao, R., Wittwer, C. T. RefTitle RET mutation scanning update: exon 15. RefLoc Clin Chem 55:2059-61 RefNumber [18] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 RefNumber [11] RefCrossRef PUBMED; 17610518 RefAuthors Tamanaha, R., Camacho, C. P., Ikejiri, E. S., Maciel, R. RefAuthors M., Cerutti, J. M. RefTitle Y791F RET mutation and early onset of medullary thyroid RefTitle carcinoma in a Brazilian kindred: evaluation of phenotype- RefTitle modifying effect of germline variants. RefLoc Clin Endocrinol (Oxf) 67:806-8 DB CrossRef OMIM; 164761.0034 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42397 Feature /change: a -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2567 Feature /codon: tat -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 791 Feature /change: Y -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Hirschsprung disease Diagnosis Sporadic medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Diagnosis Occurrence Families: 15; Patients: 45; Homozygotes: 0 Comment -!-One of the patients harbored, within the Menin gene, a Comment -!-polymorphism (D418D) reportedly associated with sporadic Comment -!-primary hyperparathyroidism. Comment -!-Novel double mutation in the RET protooncogene, Comment -!-C634Y/Y791F. // ID RET_S891A(1); standard; MUTATION; PK Accession K00024 Systematic name g.44081T>G, c.2671T>G, r.2671u>g, p.Ser891Ala Original code K314 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 10024437 RefAuthors Dang, G. T., Cote, G. J., Schultz, P. N., Khorana, S., RefAuthors Decker, R. A., Gagel, R. F. RefTitle A codon 891 exon 15 RET proto-oncogene mutation in RefTitle familial medullary thyroid carcinoma: a detection RefTitle strategy. RefLoc Mol Cell Probes 13:77-79 (1999) RefNumber [2] RefCrossRef PUBMED; 9398735 RefAuthors Hofstra, R. M., Fattoruso, O., Quadro, L., Wu, Y., RefAuthors Libroia, A., Verga, U., Colantuoni, V., Buys, C. H. RefTitle A novel point mutation in the intracellular domain of the RefTitle ret protooncogene in a family with medullary thyroid RefTitle carcinoma. RefLoc J Clin Endocrinol Metab 82:4176-4178 (1997) RefNumber [3] RefCrossRef PUBMED; 12686527 RefAuthors Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., RefAuthors Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. RefAuthors F., Lee, J. E., Evans, D. B. RefTitle Multiple endocrine neoplasia type 2: evaluation of the RefTitle genotype-phenotype relationship. RefLoc Arch Surg 138:409-16; discussion 4416 (2003) RefNumber [4] RefCrossRef PUBMED; 15292360 RefAuthors Jimenez, C., Habra, M. A., Huang, S. C., El-Naggar, A., RefAuthors Shapiro, S. E., Evans, D. B., Cote, G., Gagel, R. F. RefTitle Pheochromocytoma and medullary thyroid carcinoma: a new RefTitle genotype-phenotype correlation of the RET protooncogene RefTitle 891 germline mutation. RefLoc J Clin Endocrinol Metab:4142-4145 (2004) RefNumber [9] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [17] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44081 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2866 Feature /codon: tcg -> gcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 891 Feature /change: S -> A Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 10; Patients: 14; Homozygotes: 0 Comment -!-Autosomal dominant mutation // ID RET_P766S(1); standard; MUTATION; PK Accession K00025 Systematic name g.42321C>T, c.2296C>T, r.2296c>u, p.Pro766Ser Original code K315 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9617347 RefAuthors Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, RefAuthors H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., RefAuthors Yamashita, H. RefTitle Novel point mutations and allele loss at the RET locus in RefTitle sporadic medullary thyroid carcinomas. RefLoc Jpn J Cancer Res 89:411-418 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42321 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2491 Feature /codon: ccg -> tcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 766 Feature /change: P -> S Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_L790F(1); standard; MUTATION; PK Accession K00026 Systematic name g.42395G>T, c.2370G>T, r.2370g>u, p.Leu790Phe Original code K311 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9506724 RefAuthors Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, RefAuthors P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. RefTitle A new hot spot for mutations in the ret protooncogene RefTitle causing familial medullary thyroid carcinoma and multiple RefTitle endocrine neoplasia type 2A. RefLoc J Clin Endocrinol Metab 83:770-774 (1998) RefNumber [7] RefCrossRef PUBMED; 18062802 RefAuthors Machens, A., Dralle, H. RefTitle Familial prevalence and age of RET germline mutations: RefTitle implications for screening. RefLoc Clin Endocrinol (Oxf) 69:81-7 DB CrossRef OMIM; 164761.0033 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42395 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2565 Feature /codon: ttg -> ttt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 790 Feature /change: L -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 20; Patients: 63; Homozygotes: 0 // ID RET_L790F(2); standard; MUTATION; PK Accession K00027 Systematic name g.42395G>C, c.2370G>C, r.2370g>c, p.Leu790Phe Original code K312 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9506724 RefAuthors Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, RefAuthors P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. RefTitle A new hot spot for mutations in the ret protooncogene RefTitle causing familial medullary thyroid carcinoma and multiple RefTitle endocrine neoplasia type 2A. RefLoc J Clin Endocrinol Metab 83:770-774 (1998) RefNumber [13] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42395 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2565 Feature /codon: ttg -> ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 790 Feature /change: L -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 3; Patients: 8; Homozygotes: 0 // ID RET_A919V(1); standard; MUTATION; PK Accession K00028 Systematic name g.45908C>T, c.2756C>T, r.2756c>u, p.Ala919Val Original code K316 Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9617347 RefAuthors Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, RefAuthors H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., RefAuthors Yamashita, H. RefTitle Novel point mutations and allele loss at the RET locus in RefTitle sporadic medullary thyroid carcinomas. RefLoc Jpn J Cancer Res 89:411-418 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45908 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2951 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 919 Feature /change: A -> V Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_W942X(1); standard; MUTATION; PK Accession K00029 Systematic name g.47631G>A, c.2825G>A, r.2825g>a, p.Trp942X Original code K54 Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47631 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3020 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RET_HUMAN: 942 Feature /change: W -> X Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_V804M(1); standard; MUTATION; PK Accession K00030 Systematic name g.43485G>A, c.2410G>A, r.2410g>a, p.Val804Met Original code K49 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 17) RefNumber [1] RefAuthors Fatturuso O, Quadro L, Libroia A, Verga U, Lupoli G, Cascone E, RefAuthors Colantuoni V. RefTitle "RET proto-oncogene in two families affected by familial RefTitle medullary thyroid carcinoma". RefLoc Human mutation online 72 (1997) RefNumber [2] RefCrossRef PUBMED; 9452077 RefAuthors Fattoruso, O., Quadro, L., Libroia, A., Verga, U., Lupoli, RefAuthors G., Cascone, E., Colantuoni, V. RefTitle A GTG to ATG novel point mutation at codon 804 in exon 14 RefTitle of the RET proto-oncogene in two families affected by RefTitle familial medullary thyroid carcinoma. RefLoc Hum Mutat Suppl 1:S167-171 (1998) RefNumber [3] RefCrossRef PUBMED; 10826520 RefAuthors Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, RefAuthors M., Hoppner, W. RefTitle A RET double mutation in the germline of a kindred with RefTitle FMTC. RefLoc Exp Clin Endocrinol Diabetes 108:128-132 (2000) RefNumber [4] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () RefNumber [5] RefCrossRef PUBMED; 9607728 RefAuthors Scurini, C., Quadro, L., Fattoruso, O., Verga, U., RefAuthors Libroia, A., Lupoli, G., Cascone, E., Marzano, L., RefAuthors Paracchi, S., Busnardo, B., Girelli, M. E., Bellastella, RefAuthors A., Colantuoni, V. RefTitle Germline and somatic mutations of the RET proto-oncogene RefTitle in apparently sporadic medullary thyroid carcinomas. RefLoc Mol Cell Endocrinol 137:51-57 (1998) RefNumber [6] RefCrossRef PUBMED; 11788682 RefAuthors Menko, F. H., van der Luijt, R. B., de Valk, I. A., RefAuthors Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C. RefAuthors J. RefTitle Atypical MEN type 2B associated with two germline RET RefTitle mutations on the same allele not involving codon 918. RefLoc J Clin Endocrinol Metab 87:393-397 (2002) RefNumber [7] RefCrossRef PUBMED; 16343097 RefAuthors Learoyd, D. L., Gosnell, J., Elston, M. S., Saurine, T. RefAuthors J., Richardson, A. L., Delbridge, L. W., Aglen, J. V., RefAuthors Robinson, B. G. RefTitle Experience of prophylactic thyroidectomy in multiple RefTitle endocrine neoplasia type 2A kindreds with RET codon 804 RefTitle mutations. RefLoc Clin Endocrinol (Oxf):636-641 (2005) RefNumber [8] RefCrossRef PUBMED; 12019403 RefAuthors Lecube, A., Hernandez, C., Oriola, J., Galard, R., Gemar, RefAuthors E., Mesa, J., Simo, R. RefTitle V804M RET mutation and familial medullary thyroid RefTitle carcinoma: report of a large family with expression of the RefTitle disease only in the homozygous gene carriers. RefLoc Surgery:509-514 (2002) RefNumber [9] RefCrossRef PUBMED; 15386323 RefAuthors Gibelin, H., Bezieau, S., Misso, C., Bouin-Pineau, M. H., RefAuthors Marechaud, R., Kraimps, J. L. RefTitle Germline RET V804M mutation associated with multiple RefTitle endocrine neoplasia type 2A. RefLoc Br J Surg:1458-1459 (2004) RefNumber [18] RefCrossRef PUBMED; 21134561 RefAuthors Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., RefAuthors Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. RefAuthors J. RefTitle Single nucleotide polymorphisms act as modifiers and RefTitle correlate with the development of medullary and RefTitle simultaneous medullary/papillary thyroid carcinomas in 2 RefTitle large, non-related families with the RET V804M proto- RefTitle oncogene mutation. RefLoc Surgery 148:1274-80; discussion 1280-1 RefNumber [11] RefCrossRef PUBMED; 18299477 RefAuthors Foppiani, L., Forzano, F., Ceccherini, I., Bruno, W., RefAuthors Ghiorzo, P., Caroli, F., Quilici, P., Bandelloni, R., RefAuthors Arlandini, A., Sartini, G., Cabria, M., Del Monte, P. RefTitle Uncommon association of germline mutations of RET proto- RefTitle oncogene and CDKN2A gene. RefLoc Eur J Endocrinol 158:417-22 RefNumber [23] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 DB CrossRef OMIM; 164761.0043 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43485 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 804 Feature /change: V -> M Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Diagnosis Occurrence Families: 17; Patients: 64; Homozygotes: 8 Comment -!-4 members of a family holds also a S904C mutation in the Comment -!-same allele // ID RET_V804L(1); standard; MUTATION; PK Accession K00031 Systematic name g.43485G>T, c.2410G>T, r.2410g>u, p.Val804Leu Original code K50 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 7784092 RefAuthors Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, RefAuthors M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., RefAuthors Schlumberger, M. RefTitle RET mutations in exons 13 and 14 of FMTC patients. RefLoc Oncogene 10:2415-2419 (1995) RefNumber [2] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () RefNumber [3] RefCrossRef PUBMED; 12694233 RefAuthors Patocs, A., Valkusz, Z., Igaz, P., Balogh, K., Toth, M., RefAuthors Varga, I., Racz, K. RefTitle Segregation of the V804L mutation and S836S polymorphism RefTitle of exon 14 of the RET gene in an extended kindred with RefTitle familial medullary thyroid cancer. RefLoc Clin Genet 63:219-223 (2003) RefNumber [4] RefCrossRef PUBMED; 12686527 RefAuthors Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., RefAuthors Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. RefAuthors F., Lee, J. E., Evans, D. B. RefTitle Multiple endocrine neoplasia type 2: evaluation of the RefTitle genotype-phenotype relationship. RefLoc Arch Surg 138:409-16; discussion 4416 (2003) RefNumber [5] RefCrossRef PUBMED; 16343097 RefAuthors Learoyd, D. L., Gosnell, J., Elston, M. S., Saurine, T. RefAuthors J., Richardson, A. L., Delbridge, L. W., Aglen, J. V., RefAuthors Robinson, B. G. RefTitle Experience of prophylactic thyroidectomy in multiple RefTitle endocrine neoplasia type 2A kindreds with RET codon 804 RefTitle mutations. RefLoc Clin Endocrinol (Oxf):636-641 (2005) RefNumber [10] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [18] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 DB CrossRef OMIM; 164761.0044 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43485 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605 Feature /codon: gtg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 804 Feature /change: V -> L Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 11; Patients: 48; Homozygotes: 0 // ID RET_S922Y(1); standard; MUTATION; PK Accession K00032 Systematic name g.45917C>A, c.2765C>A, r.2765c>a, p.Ser922Tyr Original code K53 Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8595427 RefAuthors Kitamura, Y., Scavarda, N., Wells, S. A., Jackson, C. E., RefAuthors Goodfellow, P. J. RefTitle Two maternally derived missense mutations in the tyrosine RefTitle kinase domain of the RET protooncogene in a patient with RefTitle de novo MEN 2B. RefLoc Hum Mol Genet 4:1987-1988 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45917 Feature /change: c -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2960 Feature /codon: tcc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 922 Feature /change: S -> Y Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S765P(1); standard; MUTATION; PK Accession K00033 Systematic name g.42318T>C, c.2293T>C, r.2293u>c, p.Ser765Pro Original code K44 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8114938 RefAuthors Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., RefAuthors Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., RefAuthors Kaariainen, H. RefTitle Point mutations affecting the tyrosine kinase domain of RefTitle the RET proto-oncogene in hirschsprung's disease. RefLoc Nature 367:377-378 (1994) RefNumber [2] RefCrossRef PUBMED; 7704557 RefAuthors Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., RefAuthors Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, RefAuthors S. RefTitle Heterogeneity and low detection rate of RET mutations in RefTitle hirschsprung disease. RefLoc Eur J Hum Genet 2:272-280 (1994) DB CrossRef OMIM; 164761.0015 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42318 Feature /change: t -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2488 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 765 Feature /change: S -> P Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_R972G(1); standard; MUTATION; PK Accession K00034 Systematic name g.47720A>G, c.2914A>G, r.2914a>g, p.Arg972Gly Original code K46 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8114938 RefAuthors Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., RefAuthors Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., RefAuthors Kaariainen, H. RefTitle Point mutations affecting the tyrosine kinase domain of RefTitle the RET proto-oncogene in hirschsprung's disease. RefLoc Nature 367:377-378 (1994) DB CrossRef OMIM; 164761.0017 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47720 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3109 Feature /codon: agg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 972 Feature /change: R -> G Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_R897Q(1); standard; MUTATION; PK Accession K00035 Systematic name g.44100G>A, c.2690G>A, r.2690g>a, p.Arg897Gln Original code K45 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8114938 RefAuthors Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., RefAuthors Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., RefAuthors Kaariainen, H. RefTitle Point mutations affecting the tyrosine kinase domain of RefTitle the RET proto-oncogene in hirschsprung's disease. RefLoc Nature 367:377-378 (1994) RefNumber [2] RefCrossRef PUBMED; 7704557 RefAuthors Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., RefAuthors Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, RefAuthors S. RefTitle Heterogeneity and low detection rate of RET mutations in RefTitle hirschsprung disease. RefLoc Eur J Hum Genet 2:272-280 (1994) DB CrossRef OMIM; 164761.0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44100 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2885 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 897 Feature /change: R -> Q Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_P973L(1); standard; MUTATION; PK Accession K00036 Systematic name g.47724C>T, c.2918C>T, r.2918c>u, p.Pro973Leu Original code K43 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7704557 RefAuthors Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., RefAuthors Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, RefAuthors S. RefTitle Heterogeneity and low detection rate of RET mutations in RefTitle hirschsprung disease. RefLoc Eur J Hum Genet 2:272-280 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47724 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3113 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 973 Feature /change: P -> L Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_M918T(1); standard; MUTATION; PK Accession K00037 Systematic name g.45905T>C, c.2753T>C, r.2753u>c, p.Met918Thr Original code K51 Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 12) RefNumber [1] RefCrossRef PUBMED; 7906417 RefAuthors Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, RefAuthors K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., Donis- RefAuthors Keller, H. RefTitle Single missense mutation in the tyrosine kinase catalytic RefTitle domain of the RET protooncogene is associated with RefTitle multiple endocrine neoplasia type 2B. RefLoc Proc Natl Acad Sci U S A 91:1579-1583 (1994) RefNumber [2] RefCrossRef PUBMED; 7911697 RefAuthors Eng, C., Smith, D. P., Mulligan, L. M., Nagai, M. A., RefAuthors Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. RefAuthors F., Jackson, C. E., Tunnacliffe, A. RefTitle Point mutation within the tyrosine kinase domain of the RefTitle RET proto-oncogene in multiple endocrine neoplasia type 2B RefTitle and related sporadic tumours. RefLoc Hum Mol Genet 3:237-241 (1994) RefNumber [3] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () RefNumber [4] RefCrossRef PUBMED; 12686527 RefAuthors Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., RefAuthors Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. RefAuthors F., Lee, J. E., Evans, D. B. RefTitle Multiple endocrine neoplasia type 2: evaluation of the RefTitle genotype-phenotype relationship. RefLoc Arch Surg 138:409-16; discussion 4416 (2003) RefNumber [5] RefCrossRef PUBMED; 12604374 RefAuthors Gonzalez, B., Salcedo, M., Medrano, M. E., Mantilla, A., RefAuthors Quinonez, G., Benitez-Bribiesca, L., Rodriguez-Cuevas, S., RefAuthors Cabrera, L., de Leon, B., Altamirano, N., Tapia, J., RefAuthors Dawson, B. RefTitle RET oncogene mutations in medullary thyroid carcinoma in RefTitle mexican families. RefLoc Arch Med Res 34:41-49 () RefNumber [6] RefCrossRef PUBMED; 15181227 RefAuthors Chang, A., Chan, W. F., Lo, C. Y., Lam, K. S. RefTitle Multiple endocrine neoplasia type 2B in a chinese patient. RefLoc Hong Kong Med J 10:206-209 () RefNumber [11] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [14] RefCrossRef PUBMED; 18252215 RefAuthors Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. RefAuthors E., Freemerman, A. J. RefTitle Renal aplasia in humans is associated with RET mutations. RefLoc Am J Hum Genet 82:344-51 DB CrossRef OMIM; 164761.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45905 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2948 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 918 Feature /change: M -> T Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 48; Patients: 48; Homozygotes: 0 // ID RET_E921X(1); standard; MUTATION; PK Accession K00038 Systematic name g.45913G>T, c.2761G>T, r.2761g>u, p.Glu921X Original code K52 Description A point mutation in the exon 16 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45913 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2956 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RET_HUMAN: 921 Feature /change: E -> X Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_E768D(1); standard; MUTATION; PK Accession K00039 Systematic name g.42329G>C, c.2304G>C, r.2304g>c, p.Glu768Asp Original code K47 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 7845675 RefAuthors Eng, C., Smith, D. P., Mulligan, L. M., Healey, C. S., RefAuthors Zvelebil, M. J., Stonehouse, T. J., Ponder, M. A., RefAuthors Jackson, C. E., Waterfield, M. D., Ponder, B. A. RefTitle A novel point mutation in the tyrosine kinase domain of RefTitle the RET proto-oncogene in sporadic medullary thyroid RefTitle carcinoma and in a family with FMTC. RefLoc Oncogene 10:509-513 (1995) RefNumber [2] RefCrossRef PUBMED; 7784092 RefAuthors Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, RefAuthors M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., RefAuthors Schlumberger, M. RefTitle RET mutations in exons 13 and 14 of FMTC patients. RefLoc Oncogene 10:2415-2419 (1995) RefNumber [3] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem (2004) RefNumber [4] RefCrossRef PUBMED; 15855933 RefAuthors Aiello, A., Cioni, K., Gobbo, M., Collini, P., Gullo, M., RefAuthors Della Torre, G., Passerini, E., Ferrando, B., Pilotti, S., RefAuthors Pierotti, M. A., Pasini, B. RefTitle The familial medullary thyroid carcinoma-associated RET RefTitle E768D mutation in a multiple endocrine neoplasia type 2A RefTitle case. RefLoc Surgery:574-576 (2005) RefNumber [10] RefCrossRef PUBMED; 18062802 RefAuthors Machens, A., Dralle, H. RefTitle Familial prevalence and age of RET germline mutations: RefTitle implications for screening. RefLoc Clin Endocrinol (Oxf) 69:81-7 RefNumber [17] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42329 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2499 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 768 Feature /change: E -> D Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 13; Patients: 21; Homozygotes: 0 Comment -!-Polymorphism // ID RET_E762Q(1); standard; MUTATION; PK Accession K00040 Systematic name g.40668G>C, c.2284G>C, r.2284g>c, p.Glu762Gln Original code K42 Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber 1 RefAuthors Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, RefAuthors Pasini B, Tocco T, Lerone M, Cywes S, Moore S, Vanderwinden JM, RefAuthors Abramowicz MJ, Kristofferson U, Larsson LT, Hamel BCJ, RefAuthors Silengo M, Martuciello G, Romeo G. RefTitle "Heterogeneity and low detection rate of RET mutations in RefTitle Hirschsprung disease". RefLoc Eur. J. Genet. 2:272-280 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 40668 Feature /change: g -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2479 Feature /codon: gag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 762 Feature /change: E -> Q Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#P281X286(1); standard; MUTATION; PK Accession K00041 Systematic name g.15407delC, c.842delC, r.842delc, p.Pro281fsX5 Original code K327 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) RefNumber [2] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) RefNumber [7] RefCrossRef PUBMED; 20082862 RefAuthors Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., RefAuthors Kim, C. H., Jung, T. H., Park, J. Y. RefTitle LKB1 mutations are extremely rare in Korean non-small cell RefTitle lung cancers. RefLoc Cancer Genet Cytogenet 196:204-6 RefNumber [9] RefCrossRef PUBMED; 20435009 RefAuthors De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De RefAuthors Palma, G., Rossi, G. B., Staiano, A., Izzo, P. RefTitle Alu-mediated genomic deletion of the serine/threonine RefTitle protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. RefLoc Gastroenterology 138:2558-60 RefNumber [15] RefCrossRef PUBMED; 17711506 RefAuthors Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., RefAuthors Takahashi, T., Yatabe, Y., Mitsudomi, T. RefTitle LKB1 gene mutations in Japanese lung cancer patients. RefLoc Cancer Sci 98:1747-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15407 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1180 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> RSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID STK11_P281L(1); standard; MUTATION; PK Accession K00042 Systematic name g.15407C>T, c.842C>T, r.842c>u, p.Pro281Leu Original code K325 Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) RefNumber [2] RefCrossRef PUBMED; 14687797 RefAuthors Kim, C. J., Cho, Y. G., Park, J. Y., Kim, T. Y., Lee, J. RefAuthors H., Kim, H. S., Lee, J. W., Song, Y. H., Nam, S. W., Lee, RefAuthors S. H., Yoo, N. J., Lee, J. Y., Park, W. S. RefTitle Genetic analysis of the LKB1/STK11 gene in hepatocellular RefTitle carcinomas. RefLoc Eur J Cancer 40:136-141 (2004) RefNumber [7] RefCrossRef PUBMED; 20082862 RefAuthors Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., RefAuthors Kim, C. H., Jung, T. H., Park, J. Y. RefTitle LKB1 mutations are extremely rare in Korean non-small cell RefTitle lung cancers. RefLoc Cancer Genet Cytogenet 196:204-6 RefNumber [14] RefCrossRef PUBMED; 17711506 RefAuthors Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., RefAuthors Takahashi, T., Yatabe, Y., Mitsudomi, T. RefTitle LKB1 gene mutations in Japanese lung cancer patients. RefLoc Cancer Sci 98:1747-51 RefNumber [18] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15407 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1180 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> L Feature /domain: PK Diagnosis Colon cancer Diagnosis Hepatocellular carcinoma (HCC) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 5; Patients: 8; Homozygotes: 0 // ID STK11_#N247-1(1); standard; MUTATION; PK Accession K00043 Systematic name g.15304delA, c.739delA, r.739dela, p.Asn247fsX39 Original code K321 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15304 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1077 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 247 Feature /change: N -> TSPRVCTPSK GTTSTSCLRT SGRGATPSRA TVAPRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L245X286(1); standard; MUTATION; PK Accession K00044 Systematic name g.15300delC, c.735delC, r.735delc, p.Tyr246fsX40 Original code K320 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15300 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1073 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 245 Feature /change: L -> Feature /change: LTTSPRVCTP SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L140X160(1); standard; MUTATION; PK Accession K00045 Systematic name g.13454delC, c.418delC, r.418delc, p.Leu140fsX20 Original code K319 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) RefNumber [5] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 13454 Feature /change: -c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 756 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 140 Feature /change: L -> WTACRRSVSQ CARPTGTSVS X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_G215D(1); standard; MUTATION; PK Accession K00046 Systematic name g.14714G>A, c.644G>A, r.644g>a, p.Gly215Asp Original code K328 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14714 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 982 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 215 Feature /change: G -> D Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_G171S(1); standard; MUTATION; PK Accession K00047 Systematic name g.14506G>A, c.511G>A, r.511g>a, p.Gly171Ser Original code K330 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14506 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 849 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 171 Feature /change: G -> S Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_E199K(1); standard; MUTATION; PK Accession K00048 Systematic name g.14590G>A, c.595G>A, r.595g>a, p.Glu199Lys Original code K329 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14590 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 933 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 199 Feature /change: E -> K Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_D208N(1); standard; MUTATION; PK Accession K00049 Systematic name g.14692G>A, c.622G>A, r.622g>a, p.Asp208Asn Original code K326 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14692 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 960 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 208 Feature /change: D -> N Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y60X(1); standard; MUTATION; PK Accession K00050 Systematic name g.1180C>G, c.180C>G, r.180c>g, p.Tyr60X Original code K75 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) RefNumber [7] RefCrossRef PUBMED; 15617552 RefAuthors Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., RefAuthors Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., RefAuthors Sugimura, H. RefTitle A novel STK11 germline mutation in two siblings with Peutz- RefTitle Jeghers syndrome complicated by primary gastric cancer. RefLoc Clin Genet 67:81-6 RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [10] RefCrossRef PUBMED; 20497868 RefAuthors Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C. RefTitle Clinical and genetic analysis of Peutz-Jeghers syndrome RefTitle patients in Taiwan. RefLoc J Formos Med Assoc 109:354-61 RefNumber [14] RefCrossRef PUBMED; 17637250 RefAuthors Zuo, Y. G., Xu, K. J., Su, B., Ho, M. G., Liu, Y. H. RefTitle Two novel STK11 mutations in three Chinese families with RefTitle Peutz-Jeghers syndrome. RefLoc Chin Med J (Engl) 120:1183-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1180 Feature /change: c -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 518 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 60 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 7; Patients: 11; Homozygotes: 0 // ID STK11_Y253X(1); standard; MUTATION; PK Accession K00051 Systematic name g.15324C>A, c.759C>A, r.759c>a, p.Tyr253X Original code K69 Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9425897 RefAuthors Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, RefAuthors S., Jeschke, R., Muller, O., Back, W., Zimmer, M. RefTitle Peutz-jeghers syndrome is caused by mutations in a novel RefTitle serine threonine kinase. RefLoc Nat Genet 18:38-43 (1998) DB CrossRef OMIM; 602216.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15324 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1097 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 253 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#W239X285(1); standard; MUTATION; PK Accession K00052 Systematic name g.14786delG, c.716delG, r.716delg, p.Trp239fsX47 Original code K68 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9425897 RefAuthors Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, RefAuthors S., Jeschke, R., Muller, O., Back, W., Zimmer, M. RefTitle Peutz-jeghers syndrome is caused by mutations in a novel RefTitle serine threonine kinase. RefLoc Nat Genet 18:38-43 (1998) RefNumber [2] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 DB CrossRef OMIM; 602216.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14786 Feature /change: -g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1054 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 239 Feature /change: W -> Feature /change: CRLGSPSTTS PRVCTPSKGT TSTSCLRTSG RGATPSRATV Feature /change: APRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Q170X(1); standard; MUTATION; PK Accession K00053 Systematic name g.14503C>T, c.508C>T, r.508c>u, p.Gln170X Original code K67 Description A point mutation in the exon 4 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10208439 RefAuthors Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, RefAuthors T., Kirkin, A. F., Zeuthen, J. RefTitle Somatic mutation of the peutz-jeghers syndrome gene, RefTitle LKB1/STK11, in malignant melanoma. RefLoc Oncogene 18:1777-1780 (1999) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14503 Feature /change: c -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 846 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 170 Feature /change: Q -> X Feature /domain: PK Diagnosis Sporadic malignant melanoma Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 6; Homozygotes: 0 // ID STK11_#P281X286(2); standard; MUTATION; PK Accession K00054 Systematic name g.15408delG, c.843delG, r.843delg, p.Leu282fsX4 Original code K70 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9425897 RefAuthors Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, RefAuthors S., Jeschke, R., Muller, O., Back, W., Zimmer, M. RefTitle Peutz-jeghers syndrome is caused by mutations in a novel RefTitle serine threonine kinase. RefLoc Nat Genet 18:38-43 (1998) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 DB CrossRef OMIM; 602216.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15408 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1181 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> PSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID STK11_L67P(1); standard; MUTATION; PK Accession K00055 Systematic name g.1200T>C, c.200T>C, r.200u>c, p.Leu67Pro Original code K74 Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1200 Feature /change: t -> c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 538 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 67 Feature /change: L -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_K84X(1); standard; MUTATION; PK Accession K00056 Systematic name g.1250A>T, c.250A>T, r.250a>u, p.Lys84X Original code K76 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 DB CrossRef OMIM; 602216.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1250 Feature /change: a -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 588 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 84 Feature /change: K -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID STK11_#I303-3(1); standard; MUTATION; PK Accession K00057 Systematic name g.16081delT, c.908delT, r.908delu, p.Ile303fsX32 Original code K77 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16081 Feature /change: -t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1246 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 303 Feature /change: I -> TGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_G163D(1); standard; MUTATION; PK Accession K00058 Systematic name g.14483G>A, c.488G>A, r.488g>a, p.Gly163Asp Original code K64 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9605748 RefAuthors Avizienyte, E., Roth, S., Loukola, A., Hemminki, A., RefAuthors Lothe, R. A., Stenwig, A. E., Fossa, S. D., Salovaara, RefAuthors R., Aaltonen, L. A. RefTitle Somatic mutations in LKB1 are rare in sporadic colorectal RefTitle and testicular tumors. RefLoc Cancer Res 58:2087-2090 (1998) DB CrossRef OMIM; 602216.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14483 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 826 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 163 Feature /change: G -> D Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E70X(1); standard; MUTATION; PK Accession K00059 Systematic name g.1208G>T, c.208G>T, r.208g>u, p.Glu70X Original code K73 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1208 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 546 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 70 Feature /change: E -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_E57X(1); standard; MUTATION; PK Accession K00060 Systematic name g.1169G>T, c.169G>T, r.169g>u, p.Glu57X Original code K72 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1169 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 507 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 57 Feature /change: E -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_D194Y(1); standard; MUTATION; PK Accession K00061 Systematic name g.14575G>T, c.580G>T, r.580g>u, p.Asp194Tyr Original code K71 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10208439 RefAuthors Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, RefAuthors T., Kirkin, A. F., Zeuthen, J. RefTitle Somatic mutation of the peutz-jeghers syndrome gene, RefTitle LKB1/STK11, in malignant melanoma. RefLoc Oncogene 18:1777-1780 (1999) RefNumber [15] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 DB CrossRef OMIM; 602216.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14575 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 918 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 194 Feature /change: D -> Y Feature /domain: PK Diagnosis Sporadic malignant melanoma Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TEK_R849W(1); standard; MUTATION; PK Accession K00062 Systematic name g.49939C>T, c.2545C>T, r.2545c>u, p.Arg849Trp Original code K66 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 8980225 RefAuthors Vikkula, M., Boon, L. M., Carraway, K. L., Calvert, J. T., RefAuthors Diamonti, A. J., Goumnerov, B., Pasyk, K. A., Marchuk, D. RefAuthors A., Warman, M. L., Cantley, L. C., Mulliken, J. B., Olsen, RefAuthors B. R. RefTitle Vascular dysmorphogenesis caused by an activating mutation RefTitle in the receptor tyrosine kinase TIE2. RefLoc Cell 87:1181-1190 (1996) RefNumber [2] RefCrossRef PUBMED; 10369874 RefAuthors Calvert, J. T., Riney, T. J., Kontos, C. D., Cha, E. H., RefAuthors Prieto, V. G., Shea, C. R., Berg, J. N., Nevin, N. C., RefAuthors Simpson, S. A., Pasyk, K. A., Speer, M. C., Peters, K. G., RefAuthors Marchuk, D. A. RefTitle Allelic and locus heterogeneity in inherited venous RefTitle malformations. RefLoc Hum Mol Genet 8:1279-1289 (1999) RefNumber [3] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 DB CrossRef OMIM; 600221.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 49939 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2693 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 849 Feature /change: R -> W Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Diagnosis Occurrence Families: 13; Patients: 93; Homozygotes: 0 // ID PAK3_R419X(1); standard; MUTATION; PK Accession K00063 Systematic name g.74385C>T, c.1255C>T, r.1255c>u, p.Arg419X Original code K65 Description A point mutation in the exon 12 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9731525 RefAuthors Allen, K. M., Gleeson, J. G., Bagrodia, S., Partington, M. RefAuthors W., MacMillan, J. C., Cerione, R. A., Mulley, J. C., RefAuthors Walsh, C. A. RefTitle PAK3 mutation in nonsyndromic X-linked mental retardation. RefLoc Nat Genet 20:25-30 (1998) DB CrossRef OMIM; 300142.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PAK3_DNA: 74385 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF068864; GI:6174887; AF068864: 1255 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PAK3_HUMAN: 419 Feature /change: R -> X Feature /domain: PK Diagnosis X-linked nonsyndromic mental retardation (MRX) Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID NTRK1_R643W(1); standard; MUTATION; PK Accession K00064 Systematic name g.19327C>T, c.1927C>T, r.1927c>u, p.Arg643Trp Original code K80 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19327 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2047 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 643 Feature /change: R -> W Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID NTRK1_#E548X651(1); standard; MUTATION; PK Accession K00065 Systematic name g.16493delC, c.1642delC, r.1642delc, p.Glu548fsX103 Original code K79 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10233776 RefAuthors Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., RefAuthors Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T. RefTitle A novel point mutation affecting the tyrosine kinase RefTitle domain of the TRKA gene in a family with congenital RefTitle insensitivity to pain with anhidrosis. RefLoc J Invest Dermatol 112:810-814 (1999) RefNumber [2] RefCrossRef PUBMED; 8696348 RefAuthors Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, RefAuthors K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., RefAuthors Matsuda, I. RefTitle Mutations in the TRKA/NGF receptor gene in patients with RefTitle congenital insensitivity to pain with anhidrosis. RefLoc Nat Genet 13:485-488 (1996) RefNumber [3] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) DB CrossRef OMIM; 191315.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: NTRK1_DNA: 16493 Feature /change: -c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1762 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 548 Feature /change: R -> Feature /change: GRTSNVRLSC SPCCSTSTSC ASSASAPRAA PCSWSSSICG Feature /change: TGTSTASSDP MDPMPSCWLV GRMWLQAPWV WGSCWPWLAR Feature /change: SLRGWCTWRV CILCTGTWPH ATVX Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Diagnosis Occurrence Families: 17; Patients: 27; Homozygotes: 7 // ID NTRK1_M581V(1); standard; MUTATION; PK Accession K00066 Systematic name g.16592A>G, c.1741A>G, r.1741a>g, p.Met581Val Original code K78 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10233776 RefAuthors Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., RefAuthors Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T. RefTitle A novel point mutation affecting the tyrosine kinase RefTitle domain of the TRKA gene in a family with congenital RefTitle insensitivity to pain with anhidrosis. RefLoc J Invest Dermatol 112:810-814 (1999) DB CrossRef OMIM; 191315.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16592 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1861 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 581 Feature /change: M -> V Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID NTRK1_H598Y(1); standard; MUTATION; PK Accession K00067 Systematic name g.19192C>T, c.1792C>T, r.1792c>u, p.His598Tyr Original code K82 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) DB CrossRef OMIM; 191315.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19192 Feature /change: c -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1912 Feature /codon: cat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 598 Feature /change: H -> Y Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Possible polymorphism: Mardy, S. Comment -!- Miura, Y. Comment -!- Endo, F. Comment -!- Matsuda, I. Comment -!- Sztriha, L. Comment -!- Frossard, P. Comment -!- Moosa, A. Comment -!- Ismail, E. A. R. Comment -!- Macaya, A. Comment -!- Andria, G. Comment -!- Toscano, E. Comment -!- Gibson, W. Comment -!- Graham, G. E. Comment -!- Indo, Y. : Congenital insensitivity to pain with Comment -!-anhidrosis: novel mutations in the TRKA (NTRK1) gene Comment -!-encoding a high-affinity receptor for nerve growth factor. Comment -!-Am. J. Hum. Genet. 64: 1570-1579, 1999.PubMed ID : 10330344 // ID NTRK1_G708S(1); standard; MUTATION; PK Accession K00068 Systematic name g.20158G>A, c.2122G>A, r.2122g>a, p.Gly708Ser Original code K81 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 20158 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2242 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 708 Feature /change: G -> S Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID NTRK1_G607V(1); standard; MUTATION; PK Accession K00069 Systematic name g.19220G>T, c.1820G>T, r.1820g>u, p.Gly607Val Original code K83 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) DB CrossRef OMIM; 191315.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19220 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1940 Feature /codon: ggt -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 607 Feature /change: G -> V Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Possible polymorphism: Mardy, S., Miura, Y., Endo, F., Comment -!-Matsuda, I., Sztriha, L., Frossard, P., Moosa, A., Ismail, Comment -!-E. A. R., Macaya, A., Andria, G., Toscano, E., Gibson, W., Comment -!-Graham, G. E., Indo, Y. : Congenital insensitivity to Comment -!-pain with anhidrosis: novel mutations in the TRKA (NTRK1) Comment -!-gene encoding a high-affinity receptor for nerve growth Comment -!-factor. Am. J. Hum. Genet. 64: 1570-1579, 1999.PubMed ID : Comment -!-10330344 // ID NTRK1_G571R(1); standard; MUTATION; PK Accession K00070 Systematic name g.16562G>C, c.1711G>C, r.1711g>c, p.Gly571Arg Original code K39 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8696348 RefAuthors Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, RefAuthors K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., RefAuthors Matsuda, I. RefTitle Mutations in the TRKA/NGF receptor gene in patients with RefTitle congenital insensitivity to pain with anhidrosis. RefLoc Nat Genet 13:485-488 (1996) DB CrossRef OMIM; 191315.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16562 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1831 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 571 Feature /change: G -> R Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_Y1230H(1); standard; MUTATION; PK Accession K00071 Systematic name g.111955T>C, c.3688T>C, r.3688u>c, p.Tyr1230His Original code K37 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111955 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3882 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1230 Feature /change: Y -> H Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: ; Patients: ; Homozygotes: 0 // ID MET_Y1230C(1); standard; MUTATION; PK Accession K00072 Systematic name g.111956A>G, c.3689A>G, r.3689a>g, p.Tyr1230Cys Original code K34 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111956 Feature /change: a -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3883 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1230 Feature /change: Y -> C Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_V1220I(1); standard; MUTATION; PK Accession K00073 Systematic name g.111925G>A, c.3658G>A, r.3658g>a, p.Val1220Ile Original code K32 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111925 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3852 Feature /codon: gtt -> att; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1220 Feature /change: V -> I Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_V1188L(1); standard; MUTATION; PK Accession K00074 Systematic name g.110623G>T, c.3562G>T, r.3562g>u, p.Val1188Leu Original code K31 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 110623 Feature /change: g -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3756 Feature /codon: gta -> tta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1188 Feature /change: V -> L Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_M1250T(1); standard; MUTATION; PK Accession K00075 Systematic name g.112016T>C, c.3749T>C, r.3749u>c, p.Met1250Thr Original code K38 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 112016 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3943 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1250 Feature /change: M -> T Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_M1131T(1); standard; MUTATION; PK Accession K00076 Systematic name g.107423T>C, c.3392T>C, r.3392u>c, p.Met1131Thr Original code K30 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 107423 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3586 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1131 Feature /change: M -> T Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_L1195V(1); standard; MUTATION; PK Accession K00077 Systematic name g.110644C>G, c.3583C>G, r.3583c>g, p.Leu1195Val Original code K35 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 110644 Feature /change: c -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3777 Feature /codon: ctt -> gtt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1195 Feature /change: L -> V Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_D1228N(1); standard; MUTATION; PK Accession K00078 Systematic name g.111949G>A, c.3682G>A, r.3682g>a, p.Asp1228Asn Original code K33 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111949 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3876 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1228 Feature /change: D -> N Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_D1228H(1); standard; MUTATION; PK Accession K00079 Systematic name g.111949G>C, c.3682G>C, r.3682g>c, p.Asp1228His Original code K36 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111949 Feature /change: g -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3876 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1228 Feature /change: D -> H Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_#K642X648(1); standard; MUTATION; PK Accession K00080 Systematic name g.71041delA, c.1925delA, r.1925dela, p.Val643fsX1 Original code K26 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1370874 RefAuthors Spritz, R. A., Giebel, L. B., Holmes, S. A. RefTitle Dominant negative and loss of function mutations of the c- RefTitle kit (mast/stem cell growth factor receptor) proto-oncogene RefTitle in human piebaldism. RefLoc Am J Hum Genet 50:261-269 (1992) DB CrossRef OMIM; 164920.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71041 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1946 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> KSX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_H650P(1); standard; MUTATION; PK Accession K00081 Systematic name g.71065A>C, c.1949A>C, r.1949a>c, p.His650Pro Original code K23 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71065 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1970 Feature /codon: cac -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 650 Feature /change: H -> P Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_#H630X631(1); standard; MUTATION; PK Accession K00082 Systematic name g.71006delT, c.1890delT, r.1890delu, p.Leu631fsX0 Original code K27 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71006 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1911 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 630 Feature /change: H -> HX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_H630Q(1); standard; MUTATION; PK Accession K00083 Systematic name g.71006T>A, c.1890T>A, r.1890u>a, p.His630Gln Original code K22 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71006 Feature /change: t -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1911 Feature /codon: cat -> caa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 630 Feature /change: H -> Q Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_G664R(1); standard; MUTATION; PK Accession K00084 Systematic name g.71106G>A, c.1990G>A, r.1990g>a, p.Gly664Arg Original code K25 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1717985 RefAuthors Giebel, L. B., Spritz, R. A. RefTitle Mutation of the KIT (mast/stem cell growth factor RefTitle receptor) protooncogene in human piebaldism. RefLoc Proc Natl Acad Sci U S A 88:8696-8699 (1991) DB CrossRef OMIM; 164920.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71106 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2011 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 664 Feature /change: G -> R Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_E861A(1); standard; MUTATION; PK Accession K00085 Systematic name g.79580A>C, c.2582A>C, r.2582a>c, p.Glu861Ala Original code K24 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79580 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2603 Feature /codon: gag -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 861 Feature /change: E -> A Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_D820G(1); standard; MUTATION; PK Accession K00086 Systematic name g.76152A>G, c.2459A>G, r.2459a>g, p.Asp820Gly Original code K28 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9029028 RefAuthors Pignon, J. M., Giraudier, S., Duquesnoy, P., Jouault, H., RefAuthors Imbert, M., Vainchenker, W., Vernant, J. P., Tulliez, M. RefTitle A new c-kit mutation in a case of aggressive mast cell RefTitle disease. RefLoc Br J Haematol 96:374-376 (1997) RefNumber [23] RefCrossRef PUBMED; 20471335 RefAuthors Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., RefAuthors Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P. RefTitle High frequency of concomitant mastocytosis in patients RefTitle with acute myeloid leukemia exhibiting the transforming RefTitle KIT mutation D816V. RefLoc Mol Oncol 4:335-46 DB CrossRef OMIM; 164920.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76152 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2480 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 820 Feature /change: D -> G Feature /domain: PK Diagnosis Piepaldism Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_D816V(1); standard; MUTATION; PK Accession K00087 Systematic name g.76140A>T, c.2447A>T, r.2447a>u, p.Asp816Val Original code K29 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 7691885 RefAuthors Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, RefAuthors H., Koshimizu, U., Sugahara, H., Butterfield, J. H., RefAuthors Ashman, L. K., Kanayama, Y. RefTitle Identification of mutations in the coding sequence of the RefTitle proto-oncogene c-kit in a human mast cell leukemia cell RefTitle line causing ligand-independent activation of c-kit RefTitle product. RefLoc J Clin Invest 92:1736-1744 (1993) RefNumber [2] RefCrossRef PUBMED; 12890804 RefAuthors Horny, H. P., Lange, K., Sotlar, K., Valent, P. RefTitle Increase of bone marrow lymphocytes in systemic RefTitle mastocytosis: reactive lymphocytosis or malignant RefTitle lymphoma? immunohistochemical and molecular findings on RefTitle routinely processed bone marrow biopsy specimens. RefLoc J Clin Pathol 56:575-578 (2003) RefNumber [3] RefCrossRef PUBMED; 12860006 RefAuthors Pardanani, A., Reeder, T., Li, C. Y., Tefferi, A. RefTitle Eosinophils are derived from the neoplastic clone in RefTitle patients with systemic mastocytosis and eosinophilia. RefLoc Leuk Res 27:883-885 (2003) RefNumber [4] RefCrossRef PUBMED; 12842979 RefAuthors Pardanani, A., Ketterling, R. P., Brockman, S. R., Flynn, RefAuthors H. C., Paternoster, S. F., Shearer, B. M., Reeder, T. L., RefAuthors Li, C. Y., Cross, N. C., Cools, J., Gilliland, D. G., RefAuthors Dewald, G. W., Tefferi, A. RefTitle CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, RefTitle occurs in systemic mastocytosis associated with RefTitle eosinophilia and predicts response to imatinib mesylate RefTitle therapy. RefLoc Blood 102:3093-3096 (2003) RefNumber [5] RefCrossRef PUBMED; 12824871 RefAuthors Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, RefAuthors K. RefTitle Alterations of the c-kit gene in testicular germ cell RefTitle tumors. RefLoc Cancer Sci 94:486-491 (2003) RefNumber [6] RefCrossRef PUBMED; 12801532 RefAuthors Pardanani, A., Reeder, T. L., Kimlinger, T. K., Baek, J. RefAuthors Y., Li, C. Y., Butterfield, J. H., Tefferi, A. RefTitle Flt-3 and c-kit mutation studies in a spectrum of chronic RefTitle myeloid disorders including systemic mast cell disease. RefLoc Leuk Res 27:739-742 (2003) RefNumber [7] RefCrossRef PUBMED; 12701114 RefAuthors Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., RefAuthors Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, RefAuthors M., Brynes, R. K. RefTitle Systemic mastocytosis with associated clonal hematological RefTitle non-mast-cell lineage disease: analysis of RefTitle clinicopathologic features and activating c-kit mutations. RefLoc Am J Hematol 73:12-17 (2003) RefNumber [8] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) RefNumber [9] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) RefNumber [10] RefCrossRef PUBMED; 16384925 RefAuthors Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, RefAuthors F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., RefAuthors Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, RefAuthors F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, RefAuthors L., Morra, E. RefTitle Prognostic impact of c-KIT mutations in core binding RefTitle factor leukemias: an italian retrospective study. RefLoc Blood:3463-3468 (2006) RefNumber [31] RefCrossRef PUBMED; 19865100 RefAuthors Bodemer, C., Hermine, O., Palmerini, F., Yang, Y., RefAuthors Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., RefAuthors Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., RefAuthors Launay, J. M., Barete, S., Feger, F., Arock, M., Catteau, RefAuthors B., Sans, B., Stalder, J. F., Skowron, F., Thomas, L., RefAuthors Lorette, G., Plantin, P., Bordigoni, P., Lortholary, O., RefAuthors de Prost, Y., Moussy, A., Sobol, H., Dubreuil, P. RefTitle Pediatric mastocytosis is a clonal disease associated with RefTitle D816V and other activating c-KIT mutations. RefLoc J Invest Dermatol 130:804-15 RefNumber [35] RefCrossRef PUBMED; 21354053 RefAuthors Kristensen, T., Vestergaard, H., Moller, M. B. RefTitle Improved detection of the KIT D816V mutation in patients RefTitle with systemic mastocytosis using a quantitative and highly RefTitle sensitive real-time qPCR assay. RefLoc J Mol Diagn 13:180-8 DB CrossRef OMIM; 164920.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76140 Feature /change: a -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2468 Feature /codon: gac -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> V Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Diagnosis Germ cell tumor Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Acute myeloid leukemia Occurrence Families: 46; Patients: 49; Homozygotes: 0 Comment -!-Patiens with t(8;21) inversion // ID KIT_A621T(1); standard; MUTATION; PK Accession K00088 Systematic name g.70894G>A, c.1861G>A, r.1861g>a, p.Ala621Thr Original code K21 Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70894 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1882 Feature /codon: gct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 621 Feature /change: A -> T Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R411Q(1); standard; MUTATION; PK Accession K00089 Systematic name g.4745G>A, c.1232G>A, r.1232g>a, p.Arg411Gln Original code K59 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 14) RefNumber [1] RefCrossRef PUBMED; 8640225 RefAuthors Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. RefAuthors J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., RefAuthors Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., RefAuthors Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, RefAuthors M. E., Marchuk, D. A. RefTitle Mutations in the activin receptor-like kinase 1 gene in RefTitle hereditary haemorrhagic telangiectasia type 2. RefLoc Nat Genet 13:189-195 (1996) RefNumber [4] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [10] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 RefNumber [4] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [12] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [13] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [39] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 RefNumber [19] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [9] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 RefNumber [14] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 DB CrossRef OMIM; 601284.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4745 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1514 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 411 Feature /change: R -> Q Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 9; Patients: 22; Homozygotes: 0 // ID ACVRL1_R374W(1); standard; MUTATION; PK Accession K00090 Systematic name g.4633C>T, c.1120C>T, r.1120c>u, p.Arg374Trp Original code K56 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [2] RefCrossRef PUBMED; 11170071 RefAuthors Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., RefAuthors Rasmussen, K., Green, A., Vase, P. RefTitle Mutations in the ALK-1 gene and the phenotype of RefTitle hereditary hemorrhagic telangiectasia in two large danish RefTitle families. RefLoc Am J Med Genet 98:298-302 (2001) RefNumber [8] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 RefNumber [4] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-265 (2007) RefNumber [6] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [7] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [20] RefCrossRef PUBMED; 15065824 RefAuthors Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. RefAuthors M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. RefAuthors H. RefTitle Primary pulmonary hypertension in families with hereditary RefTitle haemorrhagic telangiectasia. RefLoc Eur Respir J 23:373-7 RefNumber [26] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 RefNumber [27] RefCrossRef PUBMED; 18285823 RefAuthors Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, RefAuthors F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, RefAuthors F., Calender, A., Danesino, C., Giraud, S., Plauchu, RefAuthors H., , . RefTitle Hereditary hemorrhagic telangiectasia: evidence for RefTitle regional founder effects of ACVRL1 mutations in French and RefTitle Italian patients. RefLoc Eur J Hum Genet 16:742-9 RefNumber [10] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 RefNumber [15] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 DB CrossRef OMIM; 601284.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4633 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1402 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 374 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 9; Patients: 16; Homozygotes: 0 // ID ACVRL1_P424T(1); standard; MUTATION; PK Accession K00091 Systematic name g.7534C>A, c.1270C>A, r.1270c>a, p.Pro424Thr Original code K57 Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [2] RefCrossRef PUBMED; 18159113 RefAuthors Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., RefAuthors Furutani, M., Imamura, S., Uehara, R., Nakayama, T., RefAuthors Takao, A., Nakazawa, M., Saji, T. RefTitle Implications of mutations of activin receptor-like kinase RefTitle 1 gene (ALK1) in addition to bone morphogenetic protein RefTitle receptor II gene (BMPR2) in children with pulmonary RefTitle arterial hypertension. RefLoc Circ J 72:127-33 RefNumber [18] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [4] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [6] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7534 Feature /change: c -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1552 Feature /codon: ccc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 424 Feature /change: P -> T Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 4; Patients: 4; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_M376R(1); standard; MUTATION; PK Accession K00092 Systematic name g.4640T>G, c.1127T>G, r.1127u>g, p.Met376Arg Original code K58 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8640225 RefAuthors Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. RefAuthors J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., RefAuthors Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., RefAuthors Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, RefAuthors M. E., Marchuk, D. A. RefTitle Mutations in the activin receptor-like kinase 1 gene in RefTitle hereditary haemorrhagic telangiectasia type 2. RefLoc Nat Genet 13:189-195 (1996) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 DB CrossRef OMIM; 601284.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4640 Feature /change: t -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1409 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 376 Feature /change: M -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 8; Homozygotes: 0 // ID INSR_W1227S(1); standard; MUTATION; PK Accession K00093 Systematic name g.175329G>C, c.3680G>C, r.3680g>c, p.Trp1227Ser Original code K17 Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 2460770 RefAuthors Moller, D. E., Flier, J. S. RefTitle Detection of an alteration in the insulin-receptor gene in RefTitle a patient with insulin resistance, acanthosis nigricans, RefTitle and the polycystic ovary syndrome (type A insulin RefTitle resistance). RefLoc N Engl J Med 319:1526-1529 (1988) DB CrossRef OMIM; 147670.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 175329 Feature /change: g -> c Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3818 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1227 Feature /change: W -> S Feature /domain: PK Diagnosis Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_W1220L(1); standard; MUTATION; PK Accession K00094 Systematic name g.174272G>T, c.3659G>T, r.3659g>u, p.Trp1220Leu Original code K16 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7983039 RefAuthors Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, RefAuthors H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, RefAuthors Y. RefTitle Two naturally occurring mutations in the kinase domain of RefTitle insulin receptor accelerate degradation of the insulin RefTitle receptor and impair the kinase activity. RefLoc J Biol Chem 269:31019-31027 (1994) RefNumber [2] RefCrossRef PUBMED; 8390949 RefAuthors Iwanishi, M., Haruta, T., Takata, Y., Ishibashi, O., RefAuthors Sasaoka, T., Egawa, K., Imamura, T., Naitou, K., Itazu, RefAuthors T., Kobayashi, M. RefTitle A mutation (trp1193-->leu1193) in the tyrosine kinase RefTitle domain of the insulin receptor associated with type A RefTitle syndrome of insulin resistance. RefLoc Diabetologia 36:414-422 (1993) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174272 Feature /change: g -> t Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3797 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1220 Feature /change: W -> L Feature /domain: PK Diagnosis Insulin resistance, type A Occurrence Families: 3; Patients: 6; Homozygotes: 0 // ID INSR_R1201Q(1); standard; MUTATION; PK Accession K00095 Systematic name g.174215G>A, c.3602G>A, r.3602g>a, p.Arg1201Gln Original code K13 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8082780 RefAuthors Moritz, W., Froesch, E. R., Boni-Schnetzler, M. RefTitle Functional properties of a heterozygous mutation (arg1174-- RefTitle >gln) in the tyrosine kinase domain of the insulin RefTitle receptor from a type A insulin resistant patient. RefLoc FEBS Lett 351:276-280 (1994) RefNumber [2] RefCrossRef PUBMED; 8288049 RefAuthors Moller, D. E., Cohen, O., Yamaguchi, Y., Assiz, R., RefAuthors Grigorescu, F., Eberle, A., Morrow, L. A., Moses, A. C., RefAuthors Flier, J. S. RefTitle Prevalence of mutations in the insulin receptor gene in RefTitle subjects with features of the type A syndrome of insulin RefTitle resistance. RefLoc Diabetes 43:247-255 (1994) RefNumber [3] RefCrossRef PUBMED; 9703342 RefAuthors Whitehead, J. P., Soos, M. A., Jackson, R., Tasic, V., RefAuthors Kocova, M., O'Rahilly, S. RefTitle Multiple molecular mechanisms of insulin receptor RefTitle dysfunction in a patient with donohue syndrome. RefLoc Diabetes 47:1362-1364 (1998) DB CrossRef OMIM; 147670.0030 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174215 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3740 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1201 Feature /change: R -> Q Feature /domain: PK Diagnosis Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome Diagnosis Leprechaunism Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_R1191Q(1); standard; MUTATION; PK Accession K00096 Systematic name g.174185G>A, c.3572G>A, r.3572g>a, p.Arg1191Gln Original code K12 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 1607076 RefAuthors Cocozza, S., Porcellini, A., Riccardi, G., Monticelli, A., RefAuthors Condorelli, G., Ferrara, A., Pianese, L., Miele, C., RefAuthors Capaldo, B., Beguinot, F. RefTitle NIDDM associated with mutation in tyrosine kinase domain RefTitle of insulin receptor gene. RefLoc Diabetes 41:521-526 (1992) DB CrossRef OMIM; 147670.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174185 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3710 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1191 Feature /change: R -> Q Feature /domain: PK Diagnosis Noninsulin-dependent diabetes mellitus (NIDDM) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_R1158Q(1); standard; MUTATION; PK Accession K00097 Systematic name g.172222G>A, c.3473G>A, r.3473g>a, p.Arg1158Gln Original code K8 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7512563 RefAuthors Kishimoto, M., Hashiramoto, M., Yonezawa, K., Shii, K., RefAuthors Kazumi, T., Kasuga, M. RefTitle Substitution of glutamine for arginine 1131. A newly RefTitle identified mutation in the catalytic loop of the tyrosine RefTitle kinase domain of the human insulin receptor. RefLoc J Biol Chem 269:11349-11355 (1994) RefNumber [2] RefCrossRef PUBMED; 1470163 RefAuthors Kasuga, M., Kishimoto, M., Hashiramoto, M., Yonezawa, K., RefAuthors Kazumi, T., Hagino, H., Shii, K. RefTitle [insulin receptor arg1131-->gln: a novel mutation in the RefTitle catalytic loop of insulin receptor observed in insulin RefTitle resistant diabetes] RefLoc Nippon Geka Gakkai Zasshi 93:968-971 (1992) RefNumber [3] RefCrossRef PUBMED; 10443650 RefAuthors Longo, N., Wang, Y., Pasquali, M. RefTitle Progressive decline in insulin levels in rabson-mendenhall RefTitle syndrome. RefLoc J Clin Endocrinol Metab 84:2623-2629 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172222 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3611 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1158 Feature /change: R -> Q Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 2; Patients: 6; Homozygotes: 0 // ID INSR_P1205L(1); standard; MUTATION; PK Accession K00098 Systematic name g.174227C>T, c.3614C>T, r.3614c>u, p.Pro1205Leu Original code K14 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1563582 RefAuthors Kim, H., Kadowaki, H., Sakura, H., Odawara, M., Momomura, RefAuthors K., Takahashi, Y., Miyazaki, Y., Ohtani, T., Akanuma, Y., RefAuthors Yazaki, Y. RefTitle Detection of mutations in the insulin receptor gene in RefTitle patients with insulin resistance by analysis of single- RefTitle stranded conformational polymorphisms. RefLoc Diabetologia 35:261-266 (1992) RefNumber [2] RefCrossRef PUBMED; 8314008 RefAuthors Krook, A., Kumar, S., Laing, I., Boulton, A. J., Wass, J. RefAuthors A., O'Rahilly, S. RefTitle Molecular scanning of the insulin receptor gene in RefTitle syndromes of insulin resistance. RefLoc Diabetes 43:357-368 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174227 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3752 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1205 Feature /change: P -> L Feature /domain: PK Diagnosis Insulin resistance Diagnosis Insulin resistance, type A Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_M1180I(1); standard; MUTATION; PK Accession K00099 Systematic name g.174153G>A, c.3540G>A, r.3540g>a, p.Met1180Ile Original code K11 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1890161 RefAuthors Cama, A., de la Luz Sierra, M., Ottini, L., Kadowaki, T., RefAuthors Gorden, P., Imperato-McGinley, J., Taylor, S. I. RefTitle A mutation in the tyrosine kinase domain of the insulin RefTitle receptor associated with insulin resistance in an obese RefTitle woman. RefLoc J Clin Endocrinol Metab 73:894-901 (1991) DB CrossRef OMIM; 147670.0031 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174153 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3678 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1180 Feature /change: M -> I Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_#M1136X1150(1); standard; MUTATION; PK Accession K00100 Systematic name g.172157delG, c.3408delG, r.3408delg, p.Met1136fsX14 Original code K18 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9299395 RefAuthors Kadowaki, H., Takahashi, Y., Ando, A., Momomura, K., RefAuthors Kaburagi, Y., Quin, J. D., MacCuish, A. C., Koda, N., RefAuthors Fukushima, Y., Taylor, S. I., Akanuma, Y., Yazaki, Y., RefAuthors Kadowaki, T. RefTitle Four mutant alleles of the insulin receptor gene RefTitle associated with genetic syndromes of extreme insulin RefTitle resistance. RefLoc Biochem Biophys Res Commun 237:516-520 (1997) RefNote NOTE!!: Article termination at +10, here calculated +13!!!! Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: INSR_DNA: 172157 Feature /change: -g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M10051; GI:33112647; M10051: 3546 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: INSR_HUMAN: 1136 Feature /change: M -> IFRWRQRLLT GWPTX Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_K1095E(1); standard; MUTATION; PK Accession K00101 Systematic name g.171927A>G, c.3283A>G, r.3283a>g, p.Lys1095Glu Original code K7 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 2040394 RefAuthors O'Rahilly, S., Choi, W. H., Patel, P., Turner, R. C., RefAuthors Flier, J. S., Moller, D. E. RefTitle Detection of mutations in insulin-receptor gene in NIDDM RefTitle patients by analysis of single-stranded conformation RefTitle polymorphisms. RefLoc Diabetes 40:777-782 (1991) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 171927 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3421 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1095 Feature /change: K -> E Feature /domain: PK Diagnosis Noninsulin-dependent diabetes mellitus (NIDDM) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_E1206D(1); standard; MUTATION; PK Accession K00102 Systematic name g.174231G>C, c.3618G>C, r.3618g>c, p.Glu1206Asp Original code K15 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7983039 RefAuthors Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, RefAuthors H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, RefAuthors Y. RefTitle Two naturally occurring mutations in the kinase domain of RefTitle insulin receptor accelerate degradation of the insulin RefTitle receptor and impair the kinase activity. RefLoc J Biol Chem 269:31019-31027 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174231 Feature /change: g -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3756 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1206 Feature /change: E -> D Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID INSR_A1162E(1); standard; MUTATION; PK Accession K00103 Systematic name g.172234C>A, c.3485C>A, r.3485c>a, p.Ala1162Glu Original code K10 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 1890161 RefAuthors Cama, A., de la Luz Sierra, M., Ottini, L., Kadowaki, T., RefAuthors Gorden, P., Imperato-McGinley, J., Taylor, S. I. RefTitle A mutation in the tyrosine kinase domain of the insulin RefTitle receptor associated with insulin resistance in an obese RefTitle woman. RefLoc J Clin Endocrinol Metab 73:894-901 (1991) RefNumber [2] RefCrossRef PUBMED; 8096518 RefAuthors Cama, A., de la Luz Sierra, M., Quon, M. J., Ottini, L., RefAuthors Gorden, P., Taylor, S. I. RefTitle Substitution of glutamic acid for alanine 1135 in the RefTitle putative 'catalytic loop' of the tyrosine kinase domain of RefTitle the human insulin receptor. A mutation that impairs RefTitle proteolytic processing into subunits and inhibits receptor RefTitle tyrosine kinase activity. RefLoc J Biol Chem 268:8060-8069 (1993) DB CrossRef OMIM; 147670.0026 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172234 Feature /change: c -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3623 Feature /codon: gcg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1162 Feature /change: A -> E Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_A1161T(1); standard; MUTATION; PK Accession K00104 Systematic name g.172230G>A, c.3481G>A, r.3481g>a, p.Ala1161Thr Original code K9 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 2168397 RefAuthors Moller, D. E., Yokota, A., White, M. F., Pazianos, A. G., RefAuthors Flier, J. S. RefTitle A naturally occurring mutation of insulin receptor alanine RefTitle 1134 impairs tyrosine kinase function and is associated RefTitle with dominantly inherited insulin resistance. RefLoc J Biol Chem 265:14979-14985 (1990) DB CrossRef OMIM; 147670.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172230 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3619 Feature /codon: gca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1161 Feature /change: A -> T Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID INSR_A1075D(1); standard; MUTATION; PK Accession K00105 Systematic name g.169575C>A, c.3224C>A, r.3224c>a, p.Ala1075Asp Original code K6 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8243830 RefAuthors Haruta, T., Takata, Y., Iwanishi, M., Maegawa, H., RefAuthors Imamura, T., Egawa, K., Itazu, T., Kobayashi, M. RefTitle Ala1048-->asp mutation in the kinase domain of insulin RefTitle receptor causes defective kinase activity and insulin RefTitle resistance. RefLoc Diabetes 42:1837-1844 (1993) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169575 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3362 Feature /codon: gcc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1075 Feature /change: A -> D Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_N540T(1); standard; MUTATION; PK Accession K00106 Systematic name g.12748A>C, c.1619A>C, r.1619a>c, p.Asn540Thr Original code K1 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9452043 RefAuthors Deutz-Terlouw, P. P., Losekoot, M., Aalfs, C. M., RefAuthors Hennekam, R. C., Bakker, E. RefTitle Asn540Thr substitution in the fibroblast growth factor RefTitle receptor 3 tyrosine kinase domain causing RefTitle hypochondroplasia. RefLoc Hum Mutat Suppl 1:S62-65 (1998) DB CrossRef OMIM; 134934.0018 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12748 Feature /change: a -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1658 Feature /codon: aac -> acc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> T Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_N540K(1); standard; MUTATION; PK Accession K00107 Systematic name g.12749C>G, c.1620C>G, r.1620c>g, p.Asn540Lys Original code K3 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 8589686 RefAuthors Prinos, P., Costa, T., Sommer, A., Kilpatrick, M. W., RefAuthors Tsipouras, P. RefTitle A common FGFR3 gene mutation in hypochondroplasia. RefLoc Hum Mol Genet 4:2097-2101 (1995) RefNumber [2] RefCrossRef PUBMED; 8880574 RefAuthors Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, RefAuthors H., Weissenbach, J., Maroteaux, P., Munnich, A., Le RefAuthors Merrer, M. RefTitle Clinical and genetic heterogeneity of hypochondroplasia. RefLoc J Med Genet 33:749-752 (1996) RefNumber [3] RefCrossRef PUBMED; 14755409 RefAuthors Kataoka, S., Sawai, H., Yamada, H., Kanazawa, N., Koyama, RefAuthors K., Nishimura, G., Morikawa, M., Sakuragi, N., Minakami, RefAuthors H. RefTitle Radiographic and genetic diagnosis of sporadic RefTitle hypochondroplasia early in the neonatal period. RefLoc Prenat Diagn 24:45-49 (2004) RefNumber [41] RefCrossRef PUBMED; 17621485 RefAuthors Kannu, P., Aftimos, S. RefTitle FGFR3 mutations and medial temporal lobe dysgenesis. RefLoc J Child Neurol 22:211-3 DB CrossRef OMIM; 134934.0012 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12749 Feature /change: c -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1659 Feature /codon: aac -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> K Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID FGFR3_N540K(2); standard; MUTATION; PK Accession K00108 Systematic name g.12749C>A, c.1620C>A, r.1620c>a, p.Asn540Lys Original code K2 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 7670477 RefAuthors Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. RefAuthors S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. RefAuthors T., Francomano, C. A. RefTitle A recurrent mutation in the tyrosine kinase domain of RefTitle fibroblast growth factor receptor 3 causes RefTitle hypochondroplasia. RefLoc Nat Genet 10:357-359 (1995) RefNumber [2] RefCrossRef PUBMED; 8880574 RefAuthors Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, RefAuthors H., Weissenbach, J., Maroteaux, P., Munnich, A., Le RefAuthors Merrer, M. RefTitle Clinical and genetic heterogeneity of hypochondroplasia. RefLoc J Med Genet 33:749-752 (1996) RefNumber [45] RefCrossRef PUBMED; 19449430 RefAuthors Pannier, S., Martinovic, J., Heuertz, S., Delezoide, A. RefAuthors L., Munnich, A., Schibler, L., Serre, V., Legeai-Mallet, RefAuthors L. RefTitle Thanatophoric dysplasia caused by double missense FGFR3 RefTitle mutations. RefLoc Am J Med Genet A 149A:1296-301 DB CrossRef OMIM; 134934.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12749 Feature /change: c -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1659 Feature /codon: aac -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> K Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Thanatophoric dysplasia (TD) Occurrence Families: 22; Patients: 22; Homozygotes: 0 // ID FGFR3_K650M(1); standard; MUTATION; PK Accession K00109 Systematic name g.13268A>T, c.1949A>T, r.1949a>u, p.Lys650Met Original code K5 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 8829353 RefAuthors Francomano, C. A., Bellus, G. A., Szabo, J., Mcintosh, I., RefAuthors Dorst, J., Lee, R., Hurko, O., Fraley, A. E., Bamshad, M. J. RefTitle A new sceletal dysplasia with severe tibial bowing, RefTitle profound developmental delay and acanthosis nigricans is RefTitle caused by a lys 650 met mutation in fibroblast growth RefTitle factor receptor 3 (FGFR3) RefLoc The american society of human genetics 46th annual RefLoc meeting, san francisco, california, october 29-november 2, RefLoc 1996. abstracts. RefLoc Am J Hum Genet 59:(4 Suppl):A25 (1996) RefNumber [2] RefCrossRef PUBMED; 12743143 RefAuthors van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., RefAuthors Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., RefAuthors Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C. RefTitle Molecular grading of urothelial cell carcinoma with RefTitle fibroblast growth factor receptor 3 and MIB-1 is superior RefTitle to pathologic grade for the prediction of clinical RefTitle outcome. RefLoc J Clin Oncol 21:1912-1921 (2003) RefNumber [3] RefCrossRef PUBMED; 10671061 RefAuthors Kitoh, H., Brodie, S. G., Kupke, K. G., Lachman, R. S., RefAuthors Wilcox, W. R. RefTitle Lys650Met substitution in the tyrosine kinase domain of RefTitle the fibroblast growth factor receptor gene causes RefTitle thanatophoric dysplasia type I. mutations in brief no. RefTitle 199. online. RefLoc Hum Mutat 12:362-363 (1998) RefNumber [38] RefCrossRef PUBMED; 17392824 RefAuthors Hafner, C., Hartmann, A., Real, F. X., Hofstaedter, F., RefAuthors Landthaler, M., Vogt, T. RefTitle Spectrum of FGFR3 mutations in multiple intraindividual RefTitle seborrheic keratoses. RefLoc J Invest Dermatol 127:1883-5 DB CrossRef OMIM; 134934.0015 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13268 Feature /change: a -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1988 Feature /codon: aag -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> M Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Thanatophoric dysplasia (TD) Diagnosis Occurrence Families: 7; Patients: 7; Homozygotes: 0 Comment -!-Seborrheic Keratoses // ID FGFR3_K650E(1); standard; MUTATION; PK Accession K00110 Systematic name g.13267A>G, c.1948A>G, r.1948a>g, p.Lys650Glu Original code K4 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 05-Apr-2004 (Rel. 2, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 7773297 RefAuthors Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y. Z., RefAuthors Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. RefAuthors L., Cohn, D. H., Wasmuth, J. J. RefTitle Thanatophoric dysplasia (types I and II) caused by RefTitle distinct mutations in fibroblast growth factor receptor 3. RefLoc Nat Genet 9:321-328 (1995) RefNumber [2] RefCrossRef PUBMED; 12743143 RefAuthors van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., RefAuthors Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., RefAuthors Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C. RefTitle Molecular grading of urothelial cell carcinoma with RefTitle fibroblast growth factor receptor 3 and MIB-1 is superior RefTitle to pathologic grade for the prediction of clinical RefTitle outcome. RefLoc J Clin Oncol 21:1912-1921 (2003) RefNumber [3] RefCrossRef PUBMED; 10471491 RefAuthors Cappellen, D., De Oliveira, C., Ricol, D., de Medina, S., RefAuthors Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J. P., RefAuthors Radvanyi, F. RefTitle Frequent activating mutations of FGFR3 in human bladder RefTitle and cervix carcinomas. RefLoc Nat Genet 23:18-20 (1999) RefNumber [4] RefCrossRef PUBMED; 14751560 RefAuthors Legeai-Mallet, L., Benoist-Lasselin, C., Munnich, A., RefAuthors Bonaventure, J. RefTitle Overexpression of FGFR3, stat1, stat5 and p21Cip1 RefTitle correlates with phenotypic severity and defective RefTitle chondrocyte differentiation in FGFR3-related RefTitle chondrodysplasias. RefLoc Bone 34:26-36 (2004) DB CrossRef OMIM; 134934.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13267 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1987 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> E Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Hypochondroplasia Diagnosis Thanatophoric dysplasia (TD) Occurrence Families: 25; Patients: 25; Homozygotes: 0 // ID FGFR3_I538V(1); standard; MUTATION; PK Accession K00111 Systematic name g.12741A>G, c.1612A>G, r.1612a>g, p.Ile538Val Original code K84 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10215410 RefAuthors Grigelioniene, G., Hagenas, L., Eklof, O., Neumeyer, L., RefAuthors Haereid, P. E., Anvret, M. RefTitle A novel missense mutation Ile538Val in the fibroblast RefTitle growth factor receptor 3 in hypochondroplasia. RefLoc Human Mutation, Mutation in brief #122 (1997) Online RefLoc Hum Mutat 11:333 (1998) DB CrossRef OMIM; 134934.0019 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12741 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1651 Feature /codon: atc -> gtc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 538 Feature /change: I -> V Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID CDK4_R24H(1); standard; MUTATION; PK Accession K00112 Systematic name g.1072G>A, c.71G>A, r.71g>a, p.Arg24His Original code K86 Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 9425228 RefAuthors Soufir, N., Avril, M. F., Chompret, A., Demenais, F., RefAuthors Bombled, J., Spatz, A., Stoppa-Lyonnet, D., Benard, J., RefAuthors Bressac-de Paillerets, B. RefTitle Prevalence of p16 and CDK4 germline mutations in 48 RefTitle melanoma-prone families in france. the french familial RefTitle melanoma study group. RefLoc Hum Mol Genet 7:209-216 (1998) DB CrossRef OMIM; 123829.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CDK4_DNA: 1072 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M14505; GI:1168867; HSPSKC: 298 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDK4_HUMAN: 24 Feature /change: R -> H Feature /domain: PK Diagnosis Melanoma Occurrence Families: 4; Patients: 32; Homozygotes: 0 Comment -!-Patients also have a heterozygous G1193C substitution in Comment -!-the EDNRB gene resulting in R319P. // ID CDK4_R24C(1); standard; MUTATION; PK Accession K00113 Systematic name g.1071C>T, c.70C>T, r.70c>u, p.Arg24Cys Original code K60 Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8528263 RefAuthors Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. RefAuthors A., Walker, G. J., Hayward, N., Dracopoli, N. C. RefTitle Germline mutations in the p16INK4a binding domain of CDK4 RefTitle in familial melanoma. RefLoc Nat Genet 12:97-99 (1996) RefNumber [2] RefCrossRef PUBMED; 7652577 RefAuthors Wolfel, T., Hauer, M., Schneider, J., Serrano, M., Wolfel, RefAuthors C., Klehmann-Hieb, E., De Plaen, E., Hankeln, T., Meyer RefAuthors zum Buschenfelde, K. H., Beach, D. RefTitle A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T RefTitle lymphocytes in a human melanoma. RefLoc Science 269:1281-1284 (1995) DB CrossRef OMIM; 123829.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CDK4_DNA: 1071 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M14505; GI:1168867; HSPSKC: 297 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDK4_HUMAN: 24 Feature /change: R -> C Feature /domain: PK Diagnosis Melanoma Occurrence Families: 13; Patients: 13; Homozygotes: 0 // ID CDK4_N41S(1); standard; MUTATION; PK Accession K00114 Systematic name g.1123A>G, c.122A>G, r.122a>g, p.Asn41Ser Original code K85 Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9311594 RefAuthors Guldberg, P., Kirkin, A. F., Gronbaek, K., thor Straten, RefAuthors P., Ahrenkiel, V., Zeuthen, J. RefTitle Complete scanning of the CDK4 gene by denaturing gradient RefTitle gel electrophoresis: a novel missense mutation but low RefTitle overall frequency of mutations in sporadic metastatic RefTitle malignant melanoma. RefLoc Int J Cancer 72:780-783 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CDK4_DNA: 1123 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M14505; GI:1168867; HSPSKC: 349 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDK4_HUMAN: 41 Feature /change: N -> S Feature /domain: PK Diagnosis Melanoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ZAP70_S518R(1); standard; MUTATION; TK Accession K00115 Systematic name g.14792C>A, c.1554C>A, r.1554c>a, p.Ser518Arg Description A point mutation in the exon 10 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8202713 RefAuthors Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A. RefAuthors H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A. RefTitle ZAP-70 deficiency in an autosomal recessive form of severe RefTitle combined immunodeficiency. RefLoc Science 264:1599-1601 (1994) RefNumber [2] RefCrossRef PUBMED; 9245543 RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., RefAuthors Kubo, R., Hayward, A., Gelfand, E. W. RefTitle Phenotypic features of selective T cell deficiency RefTitle characterized by absence of CD8+ T lymphocytes and RefTitle undetectable mRNA for ZAP-70 kinase. RefLoc Clin Immunol Immunopathol 84:129-138 (1997) DB CrossRef OMIM; 176947.0002 DB CrossRef OMIM; 176947.0003 DB CrossRef ZAP70base; Z0009 DB CrossRef ZAP70base; Z0010 DB CrossRef ZAP70base; Z0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14792 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1763 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 518 Feature /change: S -> R Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ZAP70_K542K(1); standard; MUTATION; TK Accession K00116 Systematic name g.14959G>A, c.1624G>A, r.1624g>a, p.Lys542Lys Description A point mutation in the exon 11 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14959 Feature /change: a -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1833 Feature /codon: aag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 542 Feature /change: K -> K Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ZAP70_A507V(1); standard; MUTATION; TK Accession K00117 Systematic name g.14758C>T, c.1520C>T, r.1520c>u, p.Ala507Val Description A point mutation in the exon 10 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 10748099 RefAuthors Noraz, N., Schwarz, K., Steinberg, M., Dardalhon, V., RefAuthors Rebouissou, C., Hipskind, R., Friedrich, W., Yssel, H., RefAuthors Bacon, K., Taylor, N. RefTitle Alternative antigen receptor (TCR) signaling in T cells RefTitle derived from ZAP-70-deficient patients expressing high RefTitle levels of syk. RefLoc J Biol Chem 275:15832-15838 (2000) RefNumber [2] RefCrossRef PUBMED; 10574909 RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., RefAuthors Katamura, K., Koyasu, S. RefTitle Temperature-sensitive ZAP70 mutants degrading through a RefTitle proteasome-independent pathway. restoration of a kinase RefTitle domain mutant by cdc37. RefLoc J Biol Chem 274:34515-34518 (1999) DB CrossRef ZAP70base; Z0014 DB CrossRef ZAP70base; Z0013 DB CrossRef ZAP70base; Z0008 DB CrossRef ZAP70base; Z0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14758 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1729 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 507 Feature /change: A -> V Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 2; Patients: 4; Homozygotes: 4 // ID ZAP70_M572L(1); standard; MUTATION; TK Accession K00118 Systematic name g.15049A>T, c.1714A>T, r.1714a>u, p.Met572Leu Description A point mutation in the exon 11 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10574909 RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., RefAuthors Katamura, K., Koyasu, S. RefTitle Temperature-sensitive ZAP70 mutants degrading through a RefTitle proteasome-independent pathway. restoration of a kinase RefTitle domain mutant by cdc37. RefLoc J Biol Chem 274:34515-34518 (1999) DB CrossRef ZAP70base; Z0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 15049 Feature /change: a -> t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1923 Feature /codon: atg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 572 Feature /change: M -> L Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ZAP70_#K504X539(1); standard; MUTATION; TK Accession K00119 Systematic name g.14748delA, c.1510delA, r.1510dela, p.Lys504fsX39 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11034358 RefAuthors Meinl, E., Lengenfelder, D., Blank, N., Pirzer, R., RefAuthors Barata, L., Hivroz, C. RefTitle Differential requirement of ZAP-70 for CD2-mediated RefTitle activation pathways of mature human T cells. RefLoc J Immunol 165:3578-3583 (2000) RefNumber [2] RefCrossRef PUBMED; 8202712 RefAuthors Elder, M. E., Lin, D., Clever, J., Chan, A. C., Hope, T. RefAuthors J., Weiss, A., Parslow, T. G. RefTitle Human severe combined immunodeficiency due to a defect in RefTitle ZAP-70, a T cell tyrosine kinase. RefLoc Science 264:1596-1599 (1994) RefNumber [3] RefCrossRef PUBMED; 7671314 RefAuthors Elder, M. E., Hope, T. J., Parslow, T. G., Umetsu, D. T., RefAuthors Wara, D. W., Cowan, M. J. RefTitle Severe combined immunodeficiency with absence of RefTitle peripheral blood CD8+ T cells due to ZAP-70 deficiency. RefLoc Cell Immunol 165:110-117 (1995) RefNumber [4] RefCrossRef PUBMED; 8726223 RefAuthors Elder, M. E. RefTitle Severe combined immunodeficiency due to a defect in the RefTitle tyrosine kinase ZAP-70. RefLoc Pediatr Res 39:743-748 (1996) RefNumber [5] RefCrossRef PUBMED; 9245543 RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., RefAuthors Kubo, R., Hayward, A., Gelfand, E. W. RefTitle Phenotypic features of selective T cell deficiency RefTitle characterized by absence of CD8+ T lymphocytes and RefTitle undetectable mRNA for ZAP-70 kinase. RefLoc Clin Immunol Immunopathol 84:129-138 (1997) DB CrossRef ZAP70base; Z0011 DB CrossRef OMIM; 176947.0004 DB CrossRef ZAP70base; Z0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ZAP70_DNA: 14748 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: L05148; GI:1177044; L05148: 1719 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ZAP70_HUMAN: 504 Feature /change: K -> SGTHPNASTS ASSPAAAMSG AMGSPCGRPC PTARSPTRRX Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID ZAP70_R465C(1); standard; MUTATION; TK Accession K00121 Systematic name g.14540C>T, c.1393C>T, r.1393c>u, p.Arg465Cys Description A point mutation in the exon 9 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11123350 RefAuthors Elder, M. E., Skoda-Smith, S., Kadlecek, T. A., Wang, F., RefAuthors Wu, J., Weiss, A. RefTitle Distinct T cell developmental consequences in humans and RefTitle mice expressing identical mutations in the DLAARN motif of RefTitle ZAP-70. RefLoc J Immunol 166:656-661 (2001) DB CrossRef ZAP70base; Z0012 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14540 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1602 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 465 Feature /change: R -> C Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID BTK_T606P(1); standard; MUTATION; TK Accession K00122 Systematic name g.68190A>C, c.1816A>C, r.1816a>c, p.Thr606Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0593 DB CrossRef BTKbase; A0593 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68190 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1948 Feature /codon: act -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 606 Feature /change: T -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // // // ID BTK_L542P(1); standard; MUTATION; TK Accession K00126 Systematic name g.66839T>C, c.1625T>C, r.1625u>c, p.Leu542Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef BTKbase; A0896 DB CrossRef BTKbase; A0897 DB CrossRef OMIM; 300300.0040 DB CrossRef SWISSCHANGE; BTK_HUMAN_50 DB CrossRef SWISS-PROT; Q06187:542_542 DB CrossRef BTKbase; A0095 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66839 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1757 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 542 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Substrate binding Protein struct ref [2] // // ID BTK_L648P(1); standard; MUTATION; TK Accession K00128 Systematic name g.71555T>C, c.1943T>C, r.1943u>c, p.Leu648Pro Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0745 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71555 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2075 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 648 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_R520Q(1); standard; MUTATION; TK Accession K00129 Systematic name g.65416G>A, c.1559G>A, r.1559g>a, p.Arg520Gln Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 20) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) RefNumber [5] RefCrossRef PUBMED; 7633429 RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J., RefAuthors Kinnon, C. RefTitle Mutation analysis in Bruton's tyrosine kinase, the X- RefTitle linked agammaglobulinemia, including identification of an RefTitle insertional hotspot RefLoc Hum. Molec. Genet. 4: 755-757(1995) RefNumber [7] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef BTKbase; A0889 DB CrossRef SWISSCHANGE; BTK_HUMAN_44 DB CrossRef SWISS-PROT; Q06187:520_520 DB CrossRef BTKbase; A0093 DB CrossRef OMIM; 300300.0037 DB CrossRef BTKbase; A0073 DB CrossRef BTKbase; A0436 DB CrossRef BTKbase; A0890 DB CrossRef BTKbase; A0196 DB CrossRef BTKbase; A0155 DB CrossRef BTKbase; A0891 DB CrossRef BTKbase; A0892 DB CrossRef BTKbase; A0195 DB CrossRef BTKbase; A0092 DB CrossRef BTKbase; A0058 DB CrossRef BTKbase; A0290 DB CrossRef BTKbase; A0435 DB CrossRef BTKbase; A1297 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65416 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1691 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 Feature /change: R -> Q Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 16; Patients: 20; Homozygotes: 0 Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [1] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] // ID BTK_#V561X569(1); standard; MUTATION; TK Accession K00132 Systematic name g.67537T>A, c.1682T>A, r.1682u>a, p.Val561Asp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8634718 RefAuthors Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., RefAuthors Webster, A. D. B., Smith, C. I. E. RefTitle Improved oligonucleotide primer set for molecular RefTitle diagnosis of X-linked agammaglobulinemia: predominance of RefTitle amino acid substitutions in the catalytic domain of RefTitle Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 4:2403-2405(1995) DB CrossRef BTKbase; A0205 DB CrossRef BTKbase; A0205 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67537 Feature /change: t -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1814 Feature /codon: gtc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 561 Feature /change: V -> D Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_Q459X(1); standard; MUTATION; TK Accession K00133 Systematic name g.65232C>T, c.1375C>T, r.1375c>u, p.Gln459X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0311 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65232 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1507 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 459 Feature /change: Q -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E636X(1); standard; MUTATION; TK Accession K00134 Systematic name g.68280G>T, c.1906G>T, r.1906g>u, p.Glu636X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8162056 RefAuthors Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, RefAuthors A.M., Morgan, G., Levinsky, R.J., Kinnon, C. RefTitle Mutation detection in the X-linked agammaglobulinemia RefTitle gene, BTK, using single strand conformation polymorphism RefTitle analysis RefLoc Hum. Molec. Genet. 3:79-83(1994) DB CrossRef OMIM; 300300.0049 DB CrossRef BTKbase; A0019 DB CrossRef BTKbase; A0021 DB CrossRef BTKbase; A0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68280 Feature /change: g -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2038 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 636 Feature /change: E -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_K558X(1); standard; MUTATION; TK Accession K00135 Systematic name g.67527A>T, c.1672A>T, r.1672a>u, p.Lys558X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (03-Sep-1996) to the BTKbase. RefLoc Ph.D. Sau-Ping Kwan; e-mail spkwan@rush.edu DB CrossRef BTKbase; A0346 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67527 Feature /change: a -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1804 Feature /codon: aaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 558 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // // ID BTK_G584R(1); standard; MUTATION; TK Accession K00137 Systematic name g.67605G>A, c.1750G>A, r.1750g>a, p.Gly584Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0767 DB CrossRef BTKbase; A0768 DB CrossRef BTKbase; A0551 DB CrossRef BTKbase; A0768 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67605 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1882 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 Feature /change: G -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 4; Homozygotes: 0 // // ID BTK_R525Q(1); standard; MUTATION; TK Accession K00139 Systematic name g.66788G>A, c.1574G>A, r.1574g>a, p.Arg525Gln Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 14) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [5] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [6] RefCrossRef PUBMED; 8380905 RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J., RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C., RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R. RefTitle The gene involved in X-linked agammaglobulinemia is RefTitle a member of the src family of protein-tyrosine kinases RefLoc Nature 361:226-233(1993) RefNumber [7] RefCrossRef PUBMED; 8283037 RefAuthors Smith, C. I. E., Baskin, B., Humire-Greiff, P., Zhou RefAuthors J. N., Olsson, P. G., Maniar, H. S., Kjellen, P., RefAuthors Lambris, J. d., Christensson, B., Hammarstrom, L., Bentley, RefAuthors D., Vetrie, D., Islam, K. B., Vorechovsky, I., Sideras, P. RefTitle Expression of Bruton's agammaglobulinemia tyrosine kinase RefTitle gene, BTK, is selectively down-regulated in the T- RefTitle lymphocytes and plasma cells RefLoc J. Immunol. 152:557-565(1994) RefNumber [8] RefCrossRef PUBMED; 8090769 RefAuthors Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson, RefAuthors R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good, RefAuthors R. A., Litman, G. W. RefTitle Genomic organization and structure of Bruton RefTitle agammaglobulinemia tyrosine kinase: Localization of RefTitle mutations associated with varied clinical presentations RefTitle and cource in X chromosome-linked agammaglobulinemia RefLoc Proc. Natl. Acad. Sci. 91:9062-9066(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_48 DB CrossRef SWISS-PROT; Q06187:525_525 DB CrossRef BTKbase; A0384 DB CrossRef BTKbase; A0051 DB CrossRef OMIM; 300300.0001 DB CrossRef BTKbase; A0002 DB CrossRef BTKbase; A0050 DB CrossRef BTKbase; A0049 DB CrossRef BTKbase; A0035 DB CrossRef ESID; SE 0542 M78 G1 DB CrossRef BTKbase; A0001 DB CrossRef BTKbase; A0034 DB CrossRef BTKbase; A0036 DB CrossRef BTKbase; A0052 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66788 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1706 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> Q Feature /domain: TK Diagnosis Moderate XLA Diagnosis Classical XLA Diagnosis Occurrence Families: 6; Patients: 14; Homozygotes: 0 Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] // ID BTK_Y511X(1); standard; MUTATION; TK Accession K00140 Systematic name g.65390C>A, c.1533C>A, r.1533c>a, p.Tyr511X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0134 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65390 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1665 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 511 Feature /change: Y -> X Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // // ID BTK_G584W(1); standard; MUTATION; TK Accession K00142 Systematic name g.67605G>T, c.1750G>T, r.1750g>u, p.Gly584Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0757 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67605 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1882 Feature /codon: ggg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 Feature /change: G -> W Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G462D(1); standard; MUTATION; TK Accession K00143 Systematic name g.65242G>A, c.1385G>A, r.1385g>a, p.Gly462Asp Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk RefNumber [2] RefCrossRef PUBMED; 12768435 RefAuthors Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. RefAuthors H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, RefAuthors S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T. RefTitle Identification of mutations in the bruton's tyrosine RefTitle kinase gene, including a novel genomic rearrangements RefTitle resulting in large deletion, in korean X-linked RefTitle agammaglobulinemia patients. RefLoc J. Hum. Genet. 48:322-326 (2003) DB CrossRef BTKbase; A0431 DB CrossRef BTKbase; A0915 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65242 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1517 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 462 Feature /change: G -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_L460X(1); standard; MUTATION; TK Accession K00144 Systematic name g.65236T>A, c.1379T>A, r.1379u>a, p.Leu460X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Submitted (30-May-1996) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minigichi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk in patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am. J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0293 DB CrossRef BTKbase; A0499 DB CrossRef BTKbase; A0293 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65236 Feature /change: t -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1511 Feature /codon: ttg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 460 Feature /change: L -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_Y598D(1); standard; MUTATION; TK Accession K00145 Systematic name g.68166T>G, c.1792T>G, r.1792u>g, p.Tyr598Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10887125 RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M., RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, RefAuthors K., Kishimoto, T., Miyawaki, T. RefTitle Genetic defect in human X-linked agammaglobulinemia RefTitle impedes a maturational evolution of pro-B cells into a RefTitle later stage of pre-B cells in the B-cell differentiation RefTitle pathway RefLoc Blood 96:610-617(2000) DB CrossRef BTKbase; A0722 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68166 Feature /change: t -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1924 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 598 Feature /change: Y -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_S604X(1); standard; MUTATION; TK Accession K00146 Systematic name g.68184delA, c.1810delA, r.1810dela, p.Ser604fsX44 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11686883 RefAuthors Usui, K., Sasahara, Y., Tazawa, R., Hagiwara, K., Tsukada, RefAuthors S., Miyawaki, T., Tsuchiya, S., Nukiwa, T. RefTitle Recurrent pneumonia with mild hypogammaglobulinemia RefTitle diagnosed as X-linked agammaglobulinemia in adults. RefLoc Respir. Res. 2:188-192 (2001) DB CrossRef BTKbase; A0862 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68184 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1942 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 604 Feature /change: S -> Feature /change: VRLLNTLPKA YVSTGLIWLQ RRYIPSCTVV GMRKQMSVPL SKFFX Feature /domain: TK Diagnosis Mild XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G594E(1); standard; MUTATION; TK Accession K00147 Systematic name g.68155G>A, c.1781G>A, r.1781g>a, p.Gly594Glu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minigichi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk in patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am. J. Hum. Genet. 62:1034-1043(1998) RefNumber [5] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0707 DB CrossRef SWISSCHANGE; BTK_HUMAN_61 DB CrossRef SWISS-PROT; Q06187:594_594 DB CrossRef BTKbase; A0106 DB CrossRef BTKbase; A0105 DB CrossRef BTKbase; A0706 DB CrossRef BTKbase; A0187 DB CrossRef BTKbase; A0507 DB CrossRef BTKbase; A0675 DB CrossRef BTKbase; A0385 DB CrossRef BTKbase; A0417 DB CrossRef BTKbase; A0708 DB CrossRef BTKbase; A0707 DB CrossRef SWISSCHANGE; BTK_HUMAN_61 DB CrossRef SWISS-PROT; Q06187:594_594 DB CrossRef BTKbase; A0105 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68155 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1913 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 594 Feature /change: G -> E Feature /domain: TK Diagnosis Mild XLA Diagnosis Occurrence Families: 10; Patients: 12; Homozygotes: 0 Protein struct Affects substrate binding Protein struct ref [2] Protein struct Affects substrate binding Protein struct ref [1] Protein struct Affects substrate binding Protein struct ref [2] Protein struct Affects substrate binding Protein struct ref [1] Protein struct Affects substrate binding Protein struct ref [3] Protein struct Affects substrate binding Protein struct ref [2] Protein struct Affects substrate binding; ref [1] // ID BTK_C502W(1); standard; MUTATION; TK Accession K00148 Systematic name g.65363C>G, c.1506C>G, r.1506c>g, p.Cys502Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef SWISSCHANGE; BTK_HUMAN_39 DB CrossRef SWISS-PROT; Q06187:502_502 DB CrossRef BTKbase; A0314 DB CrossRef BTKbase; A0313 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65363 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1638 Feature /codon: tgc -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 502 Feature /change: C -> W Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_@S572X587(1); standard; MUTATION; TK Accession K00149 Systematic name g.67570_67571insT, c.1715_1716insT, r.1715_1716insu, Systematic name p.Lys573fsX6 Description A frame shift insertion mutation in the exon 17 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (31-May-2000) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0642 DB CrossRef BTKbase; A0643 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 67571 Feature /change: +t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1848 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 572 Feature /change: S -> SQVQQQIX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BTK_@S378X403(1); standard; MUTATION; TK Accession K00150 Systematic name g.63920dupG, c.1131dupG, r.1131dupg, p.Ser378fsX20 Description A frame shift duplication mutation in the exon 13 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 7627183 RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P. RefTitle Characterization of germline mutations of the gene RefTitle encoding Bruton's tyrosine kinase in families with X-linked RefTitle agammaglobulinemia RefLoc Hum. Mutat. 5(1995) DB CrossRef OMIM; 300300.0031 DB CrossRef BTKbase; A0060 DB CrossRef BTKbase; A0166 DB CrossRef BTKbase; A0059 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 63921 Feature /change: +g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1264 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 378 Feature /change: S -> VSTKQECTFH CRPGIRIMGN X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 5; Homozygotes: 0 Protein struct Distortion of catalytic site; ref [2] Protein struct Premature stop Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] // ID BTK_A582V(1); standard; MUTATION; TK Accession K00151 Systematic name g.67600C>T, c.1745C>T, r.1745c>u, p.Ala582Val Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [2] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) RefNumber [4] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [4] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) DB CrossRef SWISSCHANGE; BTK_HUMAN_56 DB CrossRef SWISS-PROT; Q06187:582_582 DB CrossRef BTKbase; A0104 DB CrossRef BTKbase; A0259 DB CrossRef BTKbase; A0122 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67600 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1877 Feature /codon: gct -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 Feature /change: A -> V Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destabilization, orientation of W563 Protein struct ref [1] Protein struct Destabilization, orientation of W563 Protein struct ref [2] // ID BTK_P619T(1); standard; MUTATION; TK Accession K00152 Systematic name g.68229C>A, c.1855C>A, r.1855c>a, p.Pro619Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0379 DB CrossRef BTKbase; A0379 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68229 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1987 Feature /codon: cct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> T Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Highly conserved structurally important Protein struct ref [2] Protein struct Highly conserved structurally important; ref [2] // ID BTK_S623L(1); standard; MUTATION; TK Accession K00154 Systematic name g.68242C>T, c.1868C>T, r.1868c>u, p.Ser623Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0908 DB CrossRef BTKbase; A0907 DB CrossRef BTKbase; A0906 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68242 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2000 Feature /codon: tca -> tta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 623 Feature /change: S -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 5; Homozygotes: 0 // ID BTK_C506Y(1); standard; MUTATION; TK Accession K00155 Systematic name g.65374G>A, c.1517G>A, r.1517g>a, p.Cys506Tyr Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 8) RefNumber [1] RefLoc Submitted (24-May-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [4] RefCrossRef PUBMED; 8162018 RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., RefAuthors Schuurman, R. K. B., Hendriks, R. W. RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in RefTitle X-linked agammaglobulinemia: identification of a mutation RefTitle which affects the same codon as is altered in RefTitle immunodeficient xid mice RefLoc Hum. Molec. Genet. 3:161-166(1994) RefNumber [5] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [6] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) DB CrossRef SWISSCHANGE; BTK_HUMAN_41 DB CrossRef SWISS-PROT; Q06187:506_506 DB CrossRef BTKbase; A0184 DB CrossRef BTKbase; A0378 DB CrossRef BTKbase; A0026 DB CrossRef ESID; CH 0046 M71 G1 DB CrossRef BTKbase; A0241 DB CrossRef BTKbase; A0700 DB CrossRef ESID; IT 0437 M94 G1 DB CrossRef BTKbase; A0240 DB CrossRef BTKbase; A0701 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65374 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1649 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 Feature /change: C -> Y Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 7; Patients: 7; Homozygotes: 0 Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Disturbs stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] // ID BTK_Y425X(1); standard; MUTATION; TK Accession K00156 Systematic name g.64617C>A, c.1275C>A, r.1275c>a, p.Tyr425X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8162018 RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., RefAuthors Schuurman, R. K. B., Hendriks, R. W. RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in RefTitle X-linked agammaglobulinemia: identification of a mutation RefTitle which affects the same codon as is altered in RefTitle immunodeficient xid mice RefLoc Hum. Molec. Genet. 3:161-166(1994) RefNumber [3] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [4] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [4] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [5] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef OMIM; 300300.0033 DB CrossRef BTKbase; A0025 DB CrossRef BTKbase; A0821 DB CrossRef BTKbase; A0309 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64617 Feature /change: c -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1407 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 425 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_C527S(1); standard; MUTATION; TK Accession K00157 Systematic name g.66793T>A, c.1579T>A, r.1579u>a, p.Cys527Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0583 DB CrossRef BTKbase; A0583 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66793 Feature /change: t -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1711 Feature /codon: tgt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#C527X528(1); standard; MUTATION; TK Accession K00158 Systematic name g.66795delT, c.1581delT, r.1581delu, p.Leu528fsX1 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 8090769 RefAuthors Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson, RefAuthors R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good, RefAuthors R. A., Litman, G. W. RefTitle Genomic organization and structure of Bruton RefTitle agammaglobulinemia tyrosine kinase: Localization of RefTitle mutations associated with varied clinical presentations and RefTitle cource in X chromosome-linked agammaglobulinemia RefLoc Proc. Natl. Acad. Sci. 91:9062-9066(1994) RefNumber [3] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [4] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) DB CrossRef BTKbase; A0200 DB CrossRef BTKbase; A0037 DB CrossRef OMIM; 300300.0039 DB CrossRef BTKbase; A0094 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66795 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1713 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> CWX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_Y476D(1); standard; MUTATION; TK Accession K00159 Systematic name g.65283T>G, c.1426T>G, r.1426u>g, p.Tyr476Asp Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Dr. Igor Resnick, Department of Clinical Immunology, RefLoc Research Institute for Paediatric Hematology, RefLoc Central RepublicanPaediatric Hospital, RefLoc Leninsky Pr. 117, Moscow 117513, Russia. RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 7627183 RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P. RefTitle Characterization of germline mutations of the gene RefTitle encoding Bruton's tyrosine kinase in families with X-linked RefTitle agammaglobulinemia RefLoc Hum. Mutat. 5(1995) RefNumber [5] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef SWISSCHANGE; BTK_HUMAN_36 DB CrossRef SWISS-PROT; Q06187:476_476 DB CrossRef BTKbase; A0271 DB CrossRef BTKbase; A0167 DB CrossRef BTKbase; A0829 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65283 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1558 Feature /codon: tac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 476 Feature /change: Y -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 4; Patients: 4; Homozygotes: 0 Protein struct Affects ATP binding; ref [2] Protein struct Affects ATP binding; ref [2] Protein struct Affects ATP binding; ref [2] // ID BTK_K466X(1); standard; MUTATION; TK Accession K00160 Systematic name g.65253A>T, c.1396A>T, r.1396a>u, p.Lys466X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0736 DB CrossRef BTKbase; A0737 DB CrossRef BTKbase; A0735 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65253 Feature /change: a -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1528 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 466 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID BTK_#L452X454(1); standard; MUTATION; TK Accession K00161 Systematic name g.65213delT, c.1356delT, r.1356delu, p.Ser453fsX30 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0133 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65213 Feature /change: -t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1488 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 452 Feature /change: L -> LPMRSWCSCM ASAPSSAPSS SSLSTWPMAA SX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_W421X(1); standard; MUTATION; TK Accession K00162 Systematic name g.64605G>A, c.1263G>A, r.1263g>a, p.Trp421X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (04-Aug-1999) to the BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se RefNumber [3] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0603 DB CrossRef BTKbase; A0336 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64605 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1395 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 421 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Truncated protein; ref [2] // ID BTK_G613D(1); standard; MUTATION; TK Accession K00163 Systematic name g.68212G>A, c.1838G>A, r.1838g>a, p.Gly613Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 8) RefNumber [1] RefLoc Submitted (15-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk RefNumber [2] RefCrossRef PUBMED; 12204007 RefCrossRef Human Mutation, Mutation in Brief #531 (2002) Online RefAuthors Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, RefAuthors J., Vilela, M. M., Miyawaki, T. RefTitle Identification of mutations of bruton's tyrosine kinase RefTitle gene (BTK) in brazilian patients with X-linked RefTitle agammaglobulinemia. RefLoc Hum. Mutat. 20:235-236 (2002) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_65 DB CrossRef SWISS-PROT; Q06187:613_613 DB CrossRef BTKbase; A0530 DB CrossRef BTKbase; A0845 DB CrossRef BTKbase; A0531 DB CrossRef BTKbase; A0844 DB CrossRef OMIM; 300300.0047 DB CrossRef BTKbase; A0065 DB CrossRef BTKbase; A0064 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68212 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1970 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 613 Feature /change: G -> D Feature /domain: TK Diagnosis Classical XLA Diagnosis Mild XLA Occurrence Families: 4; Patients: 8; Homozygotes: 0 Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [2] // ID BTK_H454R(1); standard; MUTATION; TK Accession K00164 Systematic name g.65218A>G, c.1361A>G, r.1361a>g, p.His454Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0742 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65218 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1493 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 454 Feature /change: H -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@Y511X(1); standard; MUTATION; TK Accession K00168 Systematic name g.65388_65389insG, c.1531_1532insG, r.1531_1532insg, Systematic name p.Tyr511X Description An insertion mutation in the exon 15 leading to a premature Description stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [3] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0216 DB CrossRef BTKbase; A0214 DB CrossRef BTKbase; A0215 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 65389 Feature /change: +g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1664 Feature /codon: tac -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 511 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_#Y571X586(1); standard; MUTATION; TK Accession K00169 Systematic name g.67566delT, c.1711delT, r.1711delu, p.Tyr571fsX15 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0589 DB CrossRef BTKbase; A0589 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67566 Feature /change: -t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1843 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 571 Feature /change: Y -> IASSAANLTF GLLGFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_E567K(1); standard; MUTATION; TK Accession K00170 Systematic name g.67554G>A, c.1699G>A, r.1699g>a, p.Glu567Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_54 DB CrossRef SWISS-PROT; Q06187:567_567 DB CrossRef BTKbase; A0135 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67554 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1831 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 567 Feature /change: E -> K Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Distroys stabilizing ion bond with R641; ref [2] Protein struct Distroys stabilizing ion bond with R641; ref [2] // ID BTK_L616F(1); standard; MUTATION; TK Accession K00171 Systematic name g.68220C>T, c.1846C>T, r.1846c>u, p.Leu616Phe Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0594 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68220 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1978 Feature /codon: ctc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 616 Feature /change: L -> F Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R562W(1); standard; MUTATION; TK Accession K00172 Systematic name g.67539C>T, c.1684C>T, r.1684c>u, p.Arg562Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 23) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [5] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) RefNumber [7] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [8] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [8] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [9] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [10] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [11] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) RefNumber [12] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef SWISSCHANGE; BTK_HUMAN_53 DB CrossRef SWISS-PROT; Q06187:562_562 DB CrossRef BTKbase; A0341 DB CrossRef BTKbase; A0609 DB CrossRef OMIM; 300300.0042 DB CrossRef BTKbase; A0075 DB CrossRef BTKbase; A0817 DB CrossRef BTKbase; A0813 DB CrossRef BTKbase; A0121 DB CrossRef BTKbase; A0587 DB CrossRef BTKbase; A0898 DB CrossRef BTKbase; A0586 DB CrossRef BTKbase; A0096 DB CrossRef BTKbase; A0835 DB CrossRef BTKbase; A1001 DB CrossRef BTKbase; A1157 DB CrossRef SWISSCHANGE; BTK_HUMAN_53 DB CrossRef SWISS-PROT; Q06187:562_562 DB CrossRef BTKbase; A0341 DB CrossRef BTKbase; A0609 DB CrossRef BTKbase; A1156 DB CrossRef BTKbase; A0817 DB CrossRef BTKbase; A0813 DB CrossRef BTKbase; A0121 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67539 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1816 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 Feature /change: R -> W Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 22; Patients: 22; Homozygotes: 0 Protein struct substrate binding, and the positioning of W563 Protein struct ref [2] Destabilization, orientation of W563 Protein struct ref [3] Protein struct Destabilization, orientation of W563 Protein struct ref [2] Protein struct Destabilization, orientation of W563 Protein struct ref [2] Protein struct Destabilization, orientation of W563 Protein struct ref [2] Protein struct substrate binding, and the positioning of W563; ref [2] Protein struct Destabilization, orientation of W563; ref [3] Protein struct Destabilization, orientation of W563; ref [2] // ID BTK_#A523-114(1); standard; MUTATION; TK Accession K00173 Systematic name g.66781delG, c.1567delG, r.1567delg, p.Ala523fsX6 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) RefNumber [3] RefCrossRef PUBMED; 10887125 RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M., RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, RefAuthors K., Kishimoto, T., Miyawaki, T. RefTitle Genetic defect in human X-linked agammaglobulinemia RefTitle impedes a maturational evolution of pro-B cells into a RefTitle later stage of pre-B cells in the B-cell differentiation RefTitle pathway RefLoc Blood 96:610-617(2000) DB CrossRef BTKbase; A0317 DB CrossRef BTKbase; A0317 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66781 Feature /change: -g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1699 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523 Feature /change: A -> QLETVWX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_@M630X657(1); standard; MUTATION; TK Accession K00174 Systematic name g.68261_68262insT, c.1887_1888insT, r.1887_1888insu, Systematic name p.Met630fsX6 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef BTKbase; A0066 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68262 Feature /change: +t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2020 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> YVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_G462V(1); standard; MUTATION; TK Accession K00175 Systematic name g.65242G>T, c.1385G>T, r.1385g>u, p.Gly462Val Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0432 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65242 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1517 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 462 Feature /change: G -> V Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_A607D(1); standard; MUTATION; TK Accession K00176 Systematic name g.68194C>A, c.1820C>A, r.1820c>a, p.Ala607Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 8162056 RefAuthors Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, RefAuthors A.M., Morgan, G., Levinsky, R.J., Kinnon, C. RefTitle Mutation detection in the X-linked agammaglobulinemia RefTitle gene, BTK, using single strand conformation polymorphism RefTitle analysis RefLoc Hum. Molec. Genet. 3:79-83(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef OMIM; 300300.0046 DB CrossRef SWISSCHANGE; BTK_HUMAN_64 DB CrossRef SWISS-PROT; Q06187:607_607 DB CrossRef BTKbase; A0017 DB CrossRef BTKbase; A0343 DB CrossRef BTKbase; A0344 DB CrossRef BTKbase; A0016 DB CrossRef BTKbase; A0018 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68194 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1952 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 607 Feature /change: A -> D Feature /domain: TK Diagnosis Moderate XLA Diagnosis Classical XLA Occurrence Families: 3; Patients: 6; Homozygotes: 0 Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [3] Protein struct Domain-domain interactions; ref [3] Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [3] // ID BTK_L512P(1); standard; MUTATION; TK Accession K00177 Systematic name g.65392T>C, c.1535T>C, r.1535u>c, p.Leu512Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0738 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65392 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1667 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 512 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R525X(1); standard; MUTATION; TK Accession K00178 Systematic name g.66787C>T, c.1573C>T, r.1573c>u, p.Arg525X Description A point mutation in the exon 16 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 6) RefNumber [1] RefLoc Submitted (01-Jan-1997) to the BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [3] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) DB CrossRef BTKbase; A0402 DB CrossRef BTKbase; A0338 DB CrossRef BTKbase; A0523 DB CrossRef BTKbase; A0118 DB CrossRef BTKbase; A0523 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66787 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1705 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 5; Patients: 5; Homozygotes: 0 Protein struct Truncated protein Protein struct ref [2] Protein struct Truncated protein Protein struct ref [2] Protein struct Premature stop // ID BTK_#A582X586(1); standard; MUTATION; TK Accession K00179 Systematic name g.67600delC, c.1745delC, r.1745delc, p.Ala582fsX4 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (16-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk DB CrossRef BTKbase; A0526 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67600 Feature /change: -c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1877 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 Feature /change: A -> VLGFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G391G(1); standard; MUTATION; TK Accession K00180 Systematic name g.63962A>G, c.1173A>G, r.1173a>g, p.Gly391Gly Description A point mutation in the exon 13 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0495 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63962 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1305 Feature /codon: gga -> ggg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 391 Feature /change: G -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_C506R(1); standard; MUTATION; TK Accession K00181 Systematic name g.65373T>C, c.1516T>C, r.1516u>c, p.Cys506Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (15-May-1996) to the BTKbase RefLoc Dr. Jerrold H. Schwaber; Hahnemann University, Broad & Wine RefLoc Philadelphia, PA 19102, USA; RefLoc e-mail schwaberj@hal.hahnemann.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef Human Mutation, Mutation in Brief #377 (2000) Online RefAuthors Tao, L., Boyd, M., Gonye, G., Malone, M., Schwaber, J. RefTitle BTK mutations in patient with X-linked agammaglobulinemia: RefTitle Lack of correlation between presence of peripheral B RefTitle lymphocytes and specific mutations RefLoc Hum. Mut. 16:528-529 (2000) RefNumber [4] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_40 DB CrossRef SWISS-PROT; Q06187:506_506 DB CrossRef BTKbase; A0289 DB CrossRef OMIM; 300300.0035 DB CrossRef BTKbase; A0071 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65373 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1648 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 Feature /change: C -> R Feature /domain: TK Diagnosis Mild XLA Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Affects stabilizing interactions, charge effect; ref [2] Protein struct Affects stabilizing interactions, charge effect; ref [2] // // ID BTK_R641H(1); standard; MUTATION; TK Accession K00183 Systematic name g.71534G>A, c.1922G>A, r.1922g>a, p.Arg641His Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 14) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [2] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [5] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [5] RefCrossRef PUBMED; 10844531 RefAuthors Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., RefAuthors Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., RefAuthors Komiyama, A., Miyawaki, T. RefTitle Detection of Bruton's tyrosine kinase mutations in RefTitle hypogammaglobulinaemic males registered as common variable RefTitle immunodeficiency (CVID) in the Japanese Immunodeficiency RefTitle Registry RefLoc Clin. Exp. Immunol. 120:512-517(2000) RefNumber [6] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0690 DB CrossRef SWISSCHANGE; BTK_HUMAN_72 DB CrossRef SWISS-PROT; Q06187:641_641 DB CrossRef BTKbase; A0454 DB CrossRef BTKbase; A0139 DB CrossRef BTKbase; A0403 DB CrossRef BTKbase; A0713 DB CrossRef BTKbase; A0455 DB CrossRef BTKbase; A0140 DB CrossRef BTKbase; A0141 DB CrossRef BTKbase; A1184 DB CrossRef BTKbase; A0690 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71534 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2054 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 641 Feature /change: R -> H Feature /domain: TK Diagnosis Classical XLA Diagnosis Mild XLA Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 13; Patients: 13; Homozygotes: 0 Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] Protein struct C terminus Protein struct ref [2] Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] // ID BTK_#T628-4(1); standard; MUTATION; TK Accession K00184 Systematic name g.68258C>T, c.1884C>T, r.1884c>u, p.Thr628Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0514 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68258 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2016 Feature /codon: acc -> act; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 628 Feature /change: T -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y631X(2); standard; MUTATION; TK Accession K00185 Systematic name g.68266delA, c.1892delA, r.1892dela, p.Tyr631fsX17 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0440 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68266 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2024 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 631 Feature /change: Y -> SVVGMRKQMS VPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_W634S(1); standard; MUTATION; TK Accession K00186 Systematic name g.68275G>C, c.1901G>C, r.1901g>c, p.Trp634Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0909 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68275 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2033 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 634 Feature /change: W -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E589G(1); standard; MUTATION; TK Accession K00187 Systematic name g.68140A>G, c.1766A>G, r.1766a>g, p.Glu589Gly Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [2] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef OMIM; 300300.0044 DB CrossRef SWISSCHANGE; BTK_HUMAN_58 DB CrossRef SWISS-PROT; Q06187:589_589 DB CrossRef BTKbase; A0061 DB CrossRef BTKbase; A0063 DB CrossRef BTKbase; A0062 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68140 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1898 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 589 Feature /change: E -> G Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 Protein struct Affects substrate binding; ref [1] Protein struct Affects substrate binding; ref [1] Protein struct Affects substrate binding; ref [1] // ID BTK_L402P(1); standard; MUTATION; TK Accession K00188 Systematic name g.64547T>C, c.1205T>C, r.1205u>c, p.Leu402Pro Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (08-Jan-2002) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Madrid 28046, Spain; Tel 91 7277095; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es DB CrossRef BTKbase; A0809 DB CrossRef BTKbase; A0808 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64547 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1337 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 402 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BTK_F583S(1); standard; MUTATION; TK Accession K00189 Systematic name g.67603T>C, c.1748T>C, r.1748u>c, p.Phe583Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefLoc Submitted (20-Aug-1997) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0415 DB CrossRef BTKbase; A0527 DB CrossRef BTKbase; A0415 DB CrossRef BTKbase; A0527 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67603 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1880 Feature /codon: ttt -> tct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 583 Feature /change: F -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID BTK_L452P(1); standard; MUTATION; TK Accession K00190 Systematic name g.65212T>C, c.1355T>C, r.1355u>c, p.Leu452Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [2] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0689 DB CrossRef BTKbase; A1133 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65212 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1487 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 452 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_Y598C(1); standard; MUTATION; TK Accession K00192 Systematic name g.68167A>G, c.1793A>G, r.1793a>g, p.Tyr598Cys Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef ESID; GB 0577 M63 G1 DB CrossRef SWISSCHANGE; BTK_HUMAN_63 DB CrossRef SWISS-PROT; Q06187:598_598 DB CrossRef BTKbase; A0244 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68167 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1925 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 598 Feature /change: Y -> C Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@T410X439(1); standard; MUTATION; TK Accession K00193 Systematic name g.64569dupG, c.1227dupG, r.1227dupg, p.Thr410fsX29 Description A frame shift duplication mutation in the exon 14 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) RefNumber [2] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [3] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) DB CrossRef BTKbase; A0677 DB CrossRef BTKbase; A0687 DB CrossRef ESID; EL 0045 M81 G1 DB CrossRef BTKbase; A0237 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 64570 Feature /change: +g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1360 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 410 Feature /change: T -> DWTIWGSEVW EMERPVRRGH QDDQRRLHVX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_C527F(1); standard; MUTATION; TK Accession K00195 Systematic name g.66794G>T, c.1580G>T, r.1580g>u, p.Cys527Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0744 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66794 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1712 Feature /codon: tgt -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> F Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E441X(1); standard; MUTATION; TK Accession K00196 Systematic name g.64663G>T, c.1321G>T, r.1321g>u, p.Glu441X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [2] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [3] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0213 DB CrossRef BTKbase; A0310 DB CrossRef BTKbase; A0213 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64663 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1453 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 441 Feature /change: E -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_#N530X555(1); standard; MUTATION; TK Accession K00198 Systematic name g.66802delA, c.1588delA, r.1588dela, p.Asn530fsX25 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) DB CrossRef OMIM; 300300.0038 DB CrossRef BTKbase; A0074 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66802 Feature /change: -a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1720 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 530 Feature /change: N -> TIKELLKYLI SACPGMSWMM NTQAQX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_W581X(1); standard; MUTATION; TK Accession K00199 Systematic name g.67598G>A, c.1743G>A, r.1743g>a, p.Trp581X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (06-Jun-2001) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es DB CrossRef BTKbase; A0774 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67598 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1875 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_C506F(1); standard; MUTATION; TK Accession K00200 Systematic name g.65374G>T, c.1517G>T, r.1517g>u, p.Cys506Phe Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0579 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65374 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1649 Feature /codon: tgt -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 Feature /change: C -> F Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_P565T(1); standard; MUTATION; TK Accession K00202 Systematic name g.67548C>A, c.1693C>A, r.1693c>a, p.Pro565Thr Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12768435 RefAuthors Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. RefAuthors H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, RefAuthors S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T. RefTitle Identification of mutations in the bruton's tyrosine RefTitle kinase gene, including a novel genomic rearrangements RefTitle resulting in large deletion, in korean X-linked RefTitle agammaglobulinemia patients. RefLoc J Hum Genet 48:322-326 (2003) DB CrossRef BTKbase; A0911 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67548 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1825 Feature /codon: cca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 565 Feature /change: P -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_K430E(1); standard; MUTATION; TK Accession K00204 Systematic name g.64630A>G, c.1288A>G, r.1288a>g, p.Lys430Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8380905 RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J., RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C., RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R. RefTitle The gene involved in X-linked agammaglobulinemia is RefTitle a member of the src family of protein-tyrosine kinases RefLoc Nature 361:226-233(1993) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [4] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [5] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef OMIM; 300300.0002 DB CrossRef SWISSCHANGE; BTK_HUMAN_35 DB CrossRef SWISS-PROT; Q06187:430_430 DB CrossRef BTKbase; A0003 DB CrossRef BTKbase; A0688 DB CrossRef ESID; EL 0240 M57 G1 DB CrossRef BTKbase; A0238 DB CrossRef BTKbase; A0734 DB CrossRef Swiss-Prot variant; VAR_006242 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64630 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1420 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> E Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 4; Patients: 4; Homozygotes: 0 Protein struct Disturbs ATP binding Protein struct ref [2] Protein struct Disturbs ATP binding Protein struct ref [2] // ID BTK_W588X(1); standard; MUTATION; TK Accession K00205 Systematic name g.68137G>A, c.1763G>A, r.1763g>a, p.Trp588X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) RefNumber [2] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0506 DB CrossRef BTKbase; A0591 DB CrossRef BTKbase; A0505 DB CrossRef BTKbase; A0901 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68137 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1895 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 588 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID BTK_M509I(1); standard; MUTATION; TK Accession K00206 Systematic name g.65384G>A, c.1527G>A, r.1527g>a, p.Met509Ile Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J. E., Rohrer, J., Conley, M. E.. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [4] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [5] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) DB CrossRef BTKbase; A0467 DB CrossRef BTKbase; A0818 DB CrossRef SWISSCHANGE; BTK_HUMAN_42 DB CrossRef SWISS-PROT; Q06187:509_509 DB CrossRef BTKbase; A0257 DB CrossRef BTKbase; A0467 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65384 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1659 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> I Feature /domain: TK Diagnosis Classical XLA Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 0 Protein struct Affects stabilation of catalytic loop Protein struct ref [2] Protein struct Affects stabilation of catalytic loop Protein struct ref [2] Protein struct Affects stabilation of catalytic loop; ref [2] // ID BTK_#Y571X577(1); standard; MUTATION; TK Accession K00207 Systematic name g.67566delT, c.1711delT, r.1711delu, p.Tyr571fsX15 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0762 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67566 Feature /change: -t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1843 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 571 Feature /change: Y -> IASSAANLTF GLLGFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G594R(1); standard; MUTATION; TK Accession K00210 Systematic name g.68154G>C, c.1780G>C, r.1780g>c, p.Gly594Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) RefNumber [2] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A0705 DB CrossRef BTKbase; A1007 DB CrossRef BTKbase; A0705 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68154 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1912 Feature /codon: ggg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 594 Feature /change: G -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Diagnosis Occurrence Families: 2; Patients: 3; Homozygotes: 0 // // ID BTK_@K637X638(1); standard; MUTATION; TK Accession K00212 Systematic name g.71520_71521insT, c.1908_1909insT, r.1908_1909insu, Systematic name p.Lys637X Description An insertion mutation in the exon 19 leading to a premature Description stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8162018 RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., RefAuthors Schuurman, R. K. B., Hendriks, R. W. RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in RefTitle X-linked agammaglobulinemia: identification of a mutation RefTitle which affects the same codon as is altered in RefTitle immunodeficient xid mice RefLoc Hum. Molec. Genet. 3:161-166(1994) DB CrossRef OMIM; 300300.0050 DB CrossRef BTKbase; A0027 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 71521 Feature /change: +t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2041 Feature /codon: aaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 637 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_F644L(1); standard; MUTATION; TK Accession K00213 Systematic name g.71544C>A, c.1932C>A, r.1932c>a, p.Phe644Leu Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0441 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71544 Feature /change: c -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2064 Feature /codon: ttc -> tta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 644 Feature /change: F -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_R520X(1); standard; MUTATION; TK Accession K00214 Systematic name g.65415C>T, c.1558C>T, r.1558c>u, p.Arg520X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 17) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [4] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [5] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [6] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [7] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [8] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [9] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) DB CrossRef BTKbase; A0337 DB CrossRef OMIM; 300300.0036 DB CrossRef BTKbase; A0056 DB CrossRef BTKbase; A0362 DB CrossRef BTKbase; A0057 DB CrossRef BTKbase; A0860 DB CrossRef BTKbase; A0217 DB CrossRef BTKbase; A0383 DB CrossRef BTKbase; A0091 DB CrossRef ESID; CH 0533 M74 G1 DB CrossRef BTKbase; A0242 DB CrossRef BTKbase; A0072 DB CrossRef BTKbase; A0434 DB CrossRef BTKbase; A0414 DB CrossRef BTKbase; A0361 DB CrossRef BTKbase; A0581 DB CrossRef OMIM; 300300.0036 DB CrossRef BTKbase; A0056 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65415 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1690 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 Feature /change: R -> X Feature /domain: TK Diagnosis Classical XLA Diagnosis Moderate XLA Diagnosis Mild XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 15; Patients: 16; Homozygotes: 0 Protein struct Truncated protein Protein struct ref [2] Protein struct Premature stop // ID BTK_F559S(1); standard; MUTATION; TK Accession K00215 Systematic name g.67531T>C, c.1676T>C, r.1676u>c, p.Phe559Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0340 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67531 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1808 Feature /codon: ttt -> tct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 559 Feature /change: F -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disrupts substrate specific SH1 domain; ref [2] // ID BTK_P619S(1); standard; MUTATION; TK Accession K00216 Systematic name g.68229C>T, c.1855C>T, r.1855c>u, p.Pro619Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef ESID; GB 1234 M70 G1 DB CrossRef SWISSCHANGE; BTK_HUMAN_66 DB CrossRef SWISS-PROT; Q06187:619_619 DB CrossRef BTKbase; A0246 DB CrossRef BTKbase; A0837 DB CrossRef ESID; SE 0756 M92 G1 DB CrossRef BTKbase; A0245 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68229 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1987 Feature /codon: cct -> tct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Affects turn formation Protein struct ref [2] Protein struct Affects turn formation Protein struct ref [2] // ID BTK_R544S(1); standard; MUTATION; TK Accession K00217 Systematic name g.67487G>T, c.1632G>T, r.1632g>u, p.Arg544Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Mar-2001) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) RefNumber [3] RefCrossRef PUBMED; 18241233 RefAuthors Perez de Diego, R., Lopez-Granados, E., Rivera, J., RefAuthors Ferreira, A., Fontan, G., Bravo, J., Garcia Rodriguez, M. RefAuthors C., Bolland, S. RefTitle Naturally occurring bruton's tyrosine kinase mutations RefTitle have no dominant negative effect in an X-linked RefTitle agammaglobulinaemia cellular model. RefLoc Clin Exp Immunol:33-38 (2008) DB CrossRef BTKbase; A0739 DB CrossRef BTKbase; A1242 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67487 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1764 Feature /codon: agg -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_N526K(1); standard; MUTATION; TK Accession K00218 Systematic name g.66792C>G, c.1578C>G, r.1578c>g, p.Asn526Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_49 DB CrossRef SWISS-PROT; Q06187:526_526 DB CrossRef BTKbase; A0120 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66792 Feature /change: c -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1710 Feature /codon: aac -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 526 Feature /change: N -> K Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disturbs Mg and D521 binding Protein struct ref [2] // // ID BTK_L647R(1); standard; MUTATION; TK Accession K00221 Systematic name g.71552T>G, c.1940T>G, r.1940u>g, p.Leu647Arg Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_74 DB CrossRef SWISS-PROT; Q06187:647_647 DB CrossRef BTKbase; A0202 DB CrossRef BTKbase; A0460 DB CrossRef BTKbase; A0461 DB CrossRef SWISSCHANGE; BTK_HUMAN_74 DB CrossRef SWISS-PROT; Q06187:647_647 DB CrossRef BTKbase; A0460 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71552 Feature /change: t -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2072 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 647 Feature /change: L -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 1; Patients: 4; Homozygotes: 0 Protein struct Affects conformation of the C-terminus Protein struct ref [2] Protein struct Affects conformation of the C-terminus Protein struct ref [2] Protein struct Affects conformation of the C-terminus Protein struct ref [2] Protein struct Affects conformation of the C-terminus; ref [2] // ID BTK_Y392X(1); standard; MUTATION; TK Accession K00222 Systematic name g.63965C>A, c.1176C>A, r.1176c>a, p.Tyr392X Description A point mutation in the exon 13 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) DB CrossRef BTKbase; A0686 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63965 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1308 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 392 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#P642X654(1); standard; MUTATION; TK Accession K00223 Systematic name g.71537delC, c.1925delC, r.1925delc, p.Thr643fsX5 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (10-Oct-1998) to BTKbase. RefLoc Dr. Igor Resnick; Department of Clinical Immunology, RefLoc Research Institute for Paediatric Hematology, RefLoc Central Republican Paediatric Hospital, RefLoc Leninsky Pr. 117, Moscow 117513, Russia DB CrossRef BTKbase; A0513 DB CrossRef BTKbase; A0513 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 71537 Feature /change: -c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2057 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 642 Feature /change: P -> PLSKFFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_S554X(1); standard; MUTATION; TK Accession K00224 Systematic name g.67516C>G, c.1661C>G, r.1661c>g, p.Ser554X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0339 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67516 Feature /change: c -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1793 Feature /codon: tca -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 554 Feature /change: S -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Truncated protein; ref [2] Protein struct Truncated protein; ref [2] // ID BTK_M630K(1); standard; MUTATION; TK Accession K00225 Systematic name g.68263T>A, c.1889T>A, r.1889u>a, p.Met630Lys Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) DB CrossRef OMIM; 300300.0048 DB CrossRef SWISSCHANGE; BTK_HUMAN_68 DB CrossRef SWISS-PROT; Q06187:630_630 DB CrossRef BTKbase; A0076 DB CrossRef BTKbase; A0099 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68263 Feature /change: t -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2021 Feature /codon: atg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> K Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destabilization of hydrophobic core; ref [2] Protein struct Destabilization of hydrophobic core; ref [2] Protein struct Destabilization of hydrophobic core; ref [2] // // ID BTK_#Q612X648(1); standard; MUTATION; TK Accession K00227 Systematic name g.68208delC, c.1834delC, r.1834delc, p.Gln612fsX36 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (31-May-2000) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0644 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68208 Feature /change: -c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1966 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> KAYVSTGLIW LQRRYIPSCT VVGMRKQMSV PLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#S632X648(1); standard; MUTATION; TK Accession K00228 Systematic name g.68268delA, c.1894delA, r.1894dela, p.Ser632fsX16 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0138 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68268 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2026 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 632 Feature /change: S -> VVGMRKQMSV PLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_#K430X438(1); standard; MUTATION; TK Accession K00229 Systematic name g.64630delA, c.1288delA, r.1288dela, p.Lys430fsX1 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) DB CrossRef BTKbase; A0678 DB CrossRef BTKbase; A0678 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 64630 Feature /change: -a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1420 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> RX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // // ID BTK_R562P(1); standard; MUTATION; TK Accession K00231 Systematic name g.67540G>C, c.1685G>C, r.1685g>c, p.Arg562Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10678660 RefAuthors Curtis, S. K., Hebert, M. D., Saha, B. K. RefTitle Twin carriers of X-linked agammaglobulinemia (XLA) due to RefTitle germline mutation in the Btk gene RefLoc Am J. Med. Genet. 90:229-32 (2000) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef BTKbase; A0646 DB CrossRef BTKbase; A0647 DB CrossRef SWISSCHANGE; BTK_HUMAN_52 DB CrossRef SWISS-PROT; Q06187:562_562 DB CrossRef BTKbase; A0103 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67540 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1817 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 Feature /change: R -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Stabilization and orientation of W563 Protein struct ref [1] // ID BTK_M587T(1); standard; MUTATION; TK Accession K00232 Systematic name g.68134T>C, c.1760T>C, r.1760u>c, p.Met587Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (24-Dec-2001) to BTKbase. RefLoc J.G. Noordzij; e-mail noordzij@immu.fgg.eur.nl RefNumber [2] RefAuthors Noordzij, J.G. RefTitle Genotypic and phenotypic aspects of primary RefTitle immunodeficiency diseases of the lymphoid system RefLoc Thesis (2002), Erasmus University Rotterdam, RefLoc The Netherlands RefNumber [3] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [2] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef BTKbase; A0822 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68134 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1892 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 587 Feature /change: M -> T Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#C527X535(1); standard; MUTATION; TK Accession K00233 Systematic name g.66793delT, c.1579delT, r.1579delu, p.Cys527fsX2 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) DB CrossRef BTKbase; A0704 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66793 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1711 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> VWX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_A622P(1); standard; MUTATION; TK Accession K00234 Systematic name g.68238G>C, c.1864G>C, r.1864g>c, p.Ala622Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J. E., Rohrer, J., Conley, M. E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [2] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0469 DB CrossRef BTKbase; A0596 DB CrossRef BTKbase; A0469 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68238 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1996 Feature /codon: gct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 622 Feature /change: A -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_@E605+2(1); standard; MUTATION; TK Accession K00235 Systematic name g.68186_68187insG, c.1812_1813insG, r.1812_1813insg, Systematic name p.Glu605fsX3 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0342 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68187 Feature /change: +g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1945 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 605 Feature /change: E -> GDCX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disrupts the alpha helix of TK; ref [2] // ID BTK_@Y392X(1); standard; MUTATION; TK Accession K00236 Systematic name g.63964dupA, c.1175dupA, r.1175dupa, p.Tyr392X Description A duplication mutation in the exon 13 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) DB CrossRef BTKbase; A0685 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 63965 Feature /change: +a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1308 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 392 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_R600X(1); standard; MUTATION; TK Accession K00237 Systematic name g.68172A>T, c.1798A>T, r.1798a>u, p.Arg600X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0201 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68172 Feature /change: a -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1930 Feature /codon: aga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 600 Feature /change: R -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_R544G(1); standard; MUTATION; TK Accession K00239 Systematic name g.66844A>G, c.1630A>G, r.1630a>g, p.Arg544Gly Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (31-May-2000) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0637 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66844 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1762 Feature /codon: agg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> G Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#R562X569(1); standard; MUTATION; TK Accession K00240 Systematic name g.67539C>T, c.1684C>T, r.1684c>u, p.Arg562Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) DB CrossRef ESID; NO 001 M63 G1 DB CrossRef BTKbase; A0243 DB CrossRef ESID; NO 001 M63 G1 DB CrossRef BTKbase; A0243 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67539 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1816 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 Feature /change: R -> W Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_C633Y(1); standard; MUTATION; TK Accession K00242 Systematic name g.68272G>A, c.1898G>A, r.1898g>a, p.Cys633Tyr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) DB CrossRef SWISSCHANGE; BTK_HUMAN_69 DB CrossRef SWISS-PROT; Q06187:633_633 DB CrossRef BTKbase; A0320 DB CrossRef SWISSCHANGE; BTK_HUMAN_69 DB CrossRef SWISS-PROT; Q06187:633_633 DB CrossRef BTKbase; A0320 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68272 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2030 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 633 Feature /change: C -> Y Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_W563L(1); standard; MUTATION; TK Accession K00244 Systematic name g.67543G>T, c.1688G>T, r.1688g>u, p.Trp563Leu Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0503 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67543 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1820 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 563 Feature /change: W -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_D521N(1); standard; MUTATION; TK Accession K00245 Systematic name g.65418G>A, c.1561G>A, r.1561g>a, p.Asp521Asn Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_46 DB CrossRef SWISS-PROT; Q06187:521_521 DB CrossRef BTKbase; A0199 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65418 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1693 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 521 Feature /change: D -> N Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Disturbs catalysis; ref [2] Protein struct Disturbs catalysis; ref [2] // ID BTK_@T628X649(1); standard; MUTATION; TK Accession K00246 Systematic name g.68255_68256insC, c.1881_1882insC, r.1881_1882insc, Systematic name p.Thr628fsX8 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (10-May-1995) to the BTKbase. RefLoc Christine Kinnon; Molecular Immunology Unit, Institute of RefLoc Child Health, 30, Guilford Street, London WC1N 1EH, UK; Tel RefLoc 44 (0) 171 829 8892; Fax 44 (0) 171 831 4366; e-mail RefLoc c.kinnon@ich.ucl.ac.uk RefNumber [1] RefCrossRef PUBMED; 7633429 RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J., RefAuthors Kinnon, C. RefTitle Mutation analysis in Bruton's tyrosine kinase, the X- RefTitle linked agammaglobulinemia, including identification of an RefTitle insertional hotspot RefLoc Hum. Molec. Genet. 4: 755-757(1995) DB CrossRef BTKbase; A0157 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68256 Feature /change: +c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2014 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 628 Feature /change: T -> HHHVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_#S386X396(1); standard; MUTATION; TK Accession K00247 Systematic name g.63945delT, c.1156delT, r.1156delu, p.Ser386fsX16 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0763 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 63945 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1288 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 386 Feature /change: S -> PLQAWDTDHG KLIQRTX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_P597T(1); standard; MUTATION; TK Accession K00248 Systematic name g.68163C>A, c.1789C>A, r.1789c>a, p.Pro597Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0592 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68163 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1921 Feature /codon: cca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 597 Feature /change: P -> T Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W563X(1); standard; MUTATION; TK Accession K00249 Systematic name g.67543G>A, c.1688G>A, r.1688g>a, p.Trp563X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0408 DB CrossRef BTKbase; A0408 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67543 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1820 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 563 Feature /change: W -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Truncated protein Protein struct ref [2] Protein struct Truncated protein; ref [2] // ID BTK_A523E(1); standard; MUTATION; TK Accession K00251 Systematic name g.66782C>A, c.1568C>A, r.1568c>a, p.Ala523Glu Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (15-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk DB CrossRef BTKbase; A0522 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66782 Feature /change: c -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1700 Feature /codon: gca -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523 Feature /change: A -> E Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_378(1); standard; MUTATION; TK Accession K00252 Systematic name g.63920_63921ins6, c.1131_1132ins6, r.1131_1132ins6, Systematic name p.Gln379fsX18 Description A frame shift insertion mutation in the exon 13 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0752 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 63921 Feature /change: +6 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1264 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 378 Feature /change: S -> STKQECTFHC RPGIRIMGNX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@Y617X649(1); standard; MUTATION; TK Accession K00253 Systematic name g.68223_68224insC, c.1849_1850insC, r.1849_1850insc, Systematic name p.Tyr617fsX19 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0905 DB CrossRef BTKbase; A0904 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68224 Feature /change: +c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1982 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 617 Feature /change: Y -> SQASSGFREG IYHHVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_#S538X555(1); standard; MUTATION; TK Accession K00254 Systematic name g.66828delT, c.1614delT, r.1614delu, p.Asp539fsX16 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0584 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66828 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1746 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 538 Feature /change: S -> SISACPGMSW MMNTQAQX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y476X(1); standard; MUTATION; TK Accession K00256 Systematic name g.65285delC, c.1428delC, r.1428delc, p.Tyr476X Description A deletion mutation in the exon 15 leading to a premature Description stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) DB CrossRef ESID; DE 0174 M80 G1 DB CrossRef BTKbase; A0239 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65285 Feature /change: -c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1560 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 476 Feature /change: Y -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_@M509X536(1); standard; MUTATION; TK Accession K00258 Systematic name g.65382dupA, c.1525dupA, r.1525dupa, p.Met509fsX27 Description A frame shift duplication mutation in the exon 15 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0580 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 65383 Feature /change: +a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1658 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> NGIPGVKAVP SPRPGSSKLF GKRSRSCX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#I651X652(1); standard; MUTATION; TK Accession K00259 Systematic name g.71564delT, c.1952delT, r.1952delu, p.Leu652fsX0 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) DB CrossRef BTKbase; A0124 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 71564 Feature /change: -t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2084 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 651 Feature /change: I -> IX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_D521G(1); standard; MUTATION; TK Accession K00260 Systematic name g.65419A>G, c.1562A>G, r.1562a>g, p.Asp521Gly Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [4] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0398 DB CrossRef BTKbase; A1144 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65419 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1694 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 521 Feature /change: D -> G Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Invariant residue Protein struct ref [2] // ID BTK_L408P(1); standard; MUTATION; TK Accession K00261 Systematic name g.64565T>C, c.1223T>C, r.1223u>c, p.Leu408Pro Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 18518992 RefAuthors Sigmon, J. R., Kasasbeh, E., Krishnaswamy, G. RefTitle X-linked agammaglobulinemia diagnosed late in life: case RefTitle report and review of the literature. RefLoc Clin Mol Allergy:5 (2008) DB CrossRef OMIM; 300300.0032 DB CrossRef SWISSCHANGE; BTK_HUMAN_32 DB CrossRef SWISS-PROT; Q06187:408_408 DB CrossRef Swiss-Prot variant; VAR_006239 DB CrossRef BTKbase; A0054 DB CrossRef BTKbase; A0053 DB CrossRef BTKbase; A1405 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64565 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1355 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 408 Feature /change: L -> P Feature /domain: TK Diagnosis Moderate XLA Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Destroys beta-sheet structure Protein struct ref [2] Protein struct Destroys beta-sheet structure Protein struct ref [2] // ID BTK_L652P(1); standard; MUTATION; TK Accession K00262 Systematic name g.71567T>C, c.1955T>C, r.1955u>c, p.Leu652Pro Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef OMIM; 300300.0051 DB CrossRef SWISSCHANGE; BTK_HUMAN_70 DB CrossRef SWISS-PROT; Q06187:652_652 DB CrossRef BTKbase; A0100 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71567 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2087 Feature /codon: cta -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 652 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Domain-domain interactions; ref [2] // ID BTK_Q612X(1); standard; MUTATION; TK Accession K00263 Systematic name g.68208C>T, c.1834C>T, r.1834c>u, p.Gln612X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0437 DB CrossRef BTKbase; A0741 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68208 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1966 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_R544K(1); standard; MUTATION; TK Accession K00264 Systematic name g.66845G>A, c.1631G>A, r.1631g>a, p.Arg544Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 19039656 RefAuthors Wang, Y., Kanegane, H., Wang, X., Han, X., Zhang, Q., RefAuthors Zhao, S., Yu, Y., Wang, J., Miyawaki, T. RefTitle Mutation of the BTK gene and clinical feature of X-linked RefTitle agammaglobulinemia in mainland china. RefLoc J Clin Immunol:352-356 (2009) RefNumber [4] RefCrossRef PUBMED; 19904586 RefAuthors Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, RefAuthors W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., RefAuthors Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L. RefTitle Clinical characteristics and genotype-phenotype RefTitle correlation in 62 patients with X-linked RefTitle agammaglobulinemia. RefLoc J Clin Immunol:121-131 (2010) DB CrossRef SWISSCHANGE; BTK_HUMAN_51 DB CrossRef SWISS-PROT; Q06187:544_544 DB CrossRef BTKbase; A0218 DB CrossRef BTKbase; A1322 DB CrossRef BTKbase; A1344 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66845 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1763 Feature /codon: agg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> K Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Affects phosphotyrosine binding; ref [2] // ID BTK_R641C(1); standard; MUTATION; TK Accession K00265 Systematic name g.71533C>T, c.1921C>T, r.1921c>u, p.Arg641Cys Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7633429 RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J., RefAuthors Kinnon, C. RefTitle Mutation analysis in Bruton's tyrosine kinase, the X- RefTitle linked agammaglobulinemia, including identification of an RefTitle insertional hotspot RefLoc Hum. Molec. Genet. 4: 755-757(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) RefNumber [4] RefCrossRef PUBMED; 10737994 RefCrossRef Human Mutation, Mutation in Brief #312 (2000) Online RefAuthors Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L. RefTitle Bruton's tyrosine kinase mutations in 8 chinese families RefTitle with X-linked agammaglobulinemia RefLoc Hum. Mutat. 15:355 (2000) DB CrossRef SWISSCHANGE; BTK_HUMAN_71 DB CrossRef SWISS-PROT; Q06187:641_641 DB CrossRef BTKbase; A0158 DB CrossRef BTKbase; A0709 DB CrossRef BTKbase; A0629 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71533 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2053 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 641 Feature /change: R -> C Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] // ID BTK_W634X(1); standard; MUTATION; TK Accession K00266 Systematic name g.68276G>A, c.1902G>A, r.1902g>a, p.Trp634X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0321 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68276 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2034 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 634 Feature /change: W -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M509T(1); standard; MUTATION; TK Accession K00267 Systematic name g.65383T>C, c.1526T>C, r.1526u>c, p.Met509Thr Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Submitted (15-May-1999) to the BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se RefNumber [3] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [3] RefCrossRef PUBMED; 16712653 RefAuthors Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L., RefAuthors Lee, B. W., Yang, X., Lau, Y. L. RefTitle Identification of bruton tyrosine kinase mutations in 12 RefTitle chinese patients with X-linked agammaglobulinaemia by long RefTitle PCR-direct sequencing. RefLoc Int J Immunogenet 33:205-209 (2006) DB CrossRef BTKbase; A0554 DB CrossRef BTKbase; A0836 DB CrossRef BTKbase; A1192 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65383 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1658 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> T Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID BTK_#M489X498(1); standard; MUTATION; TK Accession K00268 Systematic name g.65324delG, c.1467delG, r.1467delg, p.Met489fsX10 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10612838 RefAuthors Orlandi, P., Ritis, K., Moschese, V., Angelini, F., RefAuthors Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., RefAuthors Rossi, P. RefTitle Identification of nine novel mutations in the Bruton's RefTitle tyrosine kinase gene in X-linked agammaglobulinemia patients RefLoc Hum. Mutat. 15:117 (2000) DB CrossRef BTKbase; A0623 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65324 Feature /change: -g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1599 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 489 Feature /change: M -> IATASRLSSC X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@G389X398(1); standard; MUTATION; TK Accession K00269 Systematic name g.63955dupG, c.1166dupG, r.1166dupg, p.Leu390fsX8 Description A frame shift duplication mutation in the exon 13 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0753 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 63956 Feature /change: +g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1299 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 389 Feature /change: G -> GPGIRIMGNX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S578P(1); standard; MUTATION; TK Accession K00270 Systematic name g.67587T>C, c.1732T>C, r.1732u>c, p.Ser578Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (26-Aug-2002) to BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se DB CrossRef BTKbase; A0816 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67587 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1864 Feature /codon: tct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 578 Feature /change: S -> P Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_M477R(1); standard; MUTATION; TK Accession K00271 Systematic name g.65287T>G, c.1430T>G, r.1430u>g, p.Met477Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8634718 RefAuthors Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., RefAuthors Webster, A. D. B., Smith, C. I. E. RefTitle Improved oligonucleotide primer set for molecular RefTitle diagnosis of X-linked agammaglobulinemia: predominance of RefTitle amino acid substitutions in the catalytic domain of RefTitle Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 4:2403-2405(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_37 DB CrossRef SWISS-PROT; Q06187:477_477 DB CrossRef BTKbase; A0204 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65287 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1562 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 477 Feature /change: M -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Affects ATP binding Protein struct ref [2] // // // ID BTK_Q497X(1); standard; MUTATION; TK Accession K00275 Systematic name g.65346C>T, c.1489C>T, r.1489c>u, p.Gln497X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [3] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0886 DB CrossRef BTKbase; A0312 DB CrossRef BTKbase; A0887 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65346 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1621 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 497 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BTK_@S572X(1); standard; MUTATION; TK Accession K00277 Systematic name g.67568dupT, c.1713dupT, r.1713dupu, p.Ser572X Description A duplication mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (16-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk DB CrossRef BTKbase; A0525 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 67569 Feature /change: +t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1846 Feature /codon: agc -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 572 Feature /change: S -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_V626G(1); standard; MUTATION; TK Accession K00278 Systematic name g.68251T>G, c.1877T>G, r.1877u>g, p.Val626Gly Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0345 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68251 Feature /change: t -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2009 Feature /codon: gta -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 626 Feature /change: V -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Unclear, alpha helix structural implication; ref [2] // ID BTK_#P566X569(1); standard; MUTATION; TK Accession K00279 Systematic name g.67553delG, c.1698delG, r.1698delg, p.Glu567fsX2 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0504 DB CrossRef BTKbase; A0533 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67553 Feature /change: -g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1830 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 566 Feature /change: P -> PKSX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#Y631X648(1); standard; MUTATION; TK Accession K00280 Systematic name g.68265delT, c.1891delT, r.1891delu, p.Tyr631fsX17 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0137 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68265 Feature /change: -t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2023 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 631 Feature /change: Y -> TVVGMRKQMS VPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_E445D(1); standard; MUTATION; TK Accession K00281 Systematic name g.64677A>C, c.1335A>C, r.1335a>c, p.Glu445Asp Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0498 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64677 Feature /change: a -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1467 Feature /codon: gaa -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 445 Feature /change: E -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_F644S(1); standard; MUTATION; TK Accession K00282 Systematic name g.71543T>C, c.1931T>C, r.1931u>c, p.Phe644Ser Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef SWISSCHANGE; BTK_HUMAN_73 DB CrossRef SWISS-PROT; Q06187:644_644 DB CrossRef BTKbase; A0322 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71543 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2063 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 644 Feature /change: F -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#K382X402(1); standard; MUTATION; TK Accession K00283 Systematic name g.63934A>T, c.1145A>T, r.1145a>u, p.Lys382Met Description A point mutation in the exon 13 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0576 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63934 Feature /change: a -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1277 Feature /codon: aag -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 382 Feature /change: K -> M Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M501T(1); standard; MUTATION; TK Accession K00285 Systematic name g.65359T>C, c.1502T>C, r.1502u>c, p.Met501Thr Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12204007 RefCrossRef Human Mutation, Mutation in Brief #531 (2002) Online RefAuthors Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, RefAuthors J., Vilela, M. M., Miyawaki, T. RefTitle Identification of mutations of bruton's tyrosine kinase RefTitle gene (BTK) in brazilian patients with X-linked RefTitle agammaglobulinemia. RefLoc Hum. Mutat. 20:235-236 (2002) DB CrossRef BTKbase; A0842 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65359 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1634 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 501 Feature /change: M -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@A523X538(1); standard; MUTATION; TK Accession K00287 Systematic name g.66780_66781insA, c.1566_1567insA, r.1566_1567insa, Systematic name p.Ala523fsX13 Description A frame shift insertion mutation in the exon 16 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (01-Oct-2001) to BTKbase. RefLoc Michael Okoh; Department of Biosciences, Division of RefLoc Biochemistry, P. O. Box 56, FIN-00014 University of RefLoc Helsinki, Finland; Tel +358-9-19159682; e-mail RefLoc okoh@helsinki.fi RefNumber [2] RefCrossRef PUBMED; 12442285 RefAuthors Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., RefAuthors Varming, K., Ruuskanen, O., Vihinen, M. RefTitle Novel insertions of bruton tyrosine kinase in patients RefTitle with X-linked agammaglobulinemia. RefLoc Hum Mutat 20:480-481 (2002) DB CrossRef BTKbase; A0796 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 66781 Feature /change: +a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1699 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523 Feature /change: A -> SSSKLFGKRS RSCX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_G414R(1); standard; MUTATION; TK Accession K00289 Systematic name g.64582G>A, c.1240G>A, r.1240g>a, p.Gly414Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0335 DB CrossRef Swiss-Prot variant; VAR_008313 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64582 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1372 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 414 Feature /change: G -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct G-X-G-X-X-G(414) of the ATP binding site, no kinase Protein struct activity Protein struct ref [2] // ID BTK_Y591X(1); standard; MUTATION; TK Accession K00290 Systematic name g.68147C>A, c.1773C>A, r.1773c>a, p.Tyr591X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [2] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) DB CrossRef OMIM; 300300.0045 DB CrossRef SWISSCHANGE; BTK_HUMAN_59 DB CrossRef SWISS-PROT; Q06187:591_591 DB CrossRef BTKbase; A0098 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68147 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1905 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 591 Feature /change: Y -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_R525G(1); standard; MUTATION; TK Accession K00291 Systematic name g.66787C>G, c.1573C>G, r.1573c>g, p.Arg525Gly Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0500 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66787 Feature /change: c -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1705 Feature /codon: cga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#G556X562(1); standard; MUTATION; TK Accession K00292 Systematic name g.67523delC, c.1668delC, r.1668delc, p.Ser557fsX12 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0760 DB CrossRef BTKbase; A0761 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67523 Feature /change: -c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1800 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 556 Feature /change: G -> GPNFQSGGPH RKSX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_R520G(1); standard; MUTATION; TK Accession K00293 Systematic name g.65415C>G, c.1558C>G, r.1558c>g, p.Arg520Gly Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0888 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65415 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1690 Feature /codon: cga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 Feature /change: R -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_P565L(1); standard; MUTATION; TK Accession K00296 Systematic name g.67549C>T, c.1694C>T, r.1694c>u, p.Pro565Leu Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Dec-2000) to the BTKbase. RefLoc Donn M. Stewart; Metabolism Branch, NCI, NIH, 10 Center RefLoc Drive MSC 1374, Bethesda MD 20892-1374; RefLoc fax: 301-496-9956; e-mail dstew@helix.nih.gov RefNumber [2] RefCrossRef PUBMED; 11286545 RefAuthors Stewart, D. M., Tian, L., Nelson, D. L. RefTitle Mutation screening of the btk gene in 56 families with RefTitle A case of X-linked agammaglobulinemia diagnosed in RefTitle adulthood RefLoc Clin. Immunol. 99:94-99(2001) DB CrossRef BTKbase; A0727 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67549 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1826 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 565 Feature /change: P -> L Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_L518R(1); standard; MUTATION; TK Accession K00299 Systematic name g.65410T>G, c.1553T>G, r.1553u>g, p.Leu518Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (26-Oct-1998) to BTKbase. RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box RefLoc 356320, University of Washington, School of Medicine RefLoc Seattle, WA 98195-6320; fax 206 543 3184; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0539 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65410 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1685 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 518 Feature /change: L -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M630T(1); standard; MUTATION; TK Accession K00300 Systematic name g.68263T>C, c.1889T>C, r.1889u>c, p.Met630Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0439 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68263 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2021 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S575R(1); standard; MUTATION; TK Accession K00301 Systematic name g.67580C>A, c.1725C>A, r.1725c>a, p.Ser575Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (30-May-2001) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es DB CrossRef BTKbase; A0772 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67580 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1857 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 575 Feature /change: S -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#R492X499(1); standard; MUTATION; TK Accession K00302 Systematic name g.65333delC, c.1476delC, r.1476delc, p.Phe493fsX6 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0433 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65333 Feature /change: -c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1608 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 492 Feature /change: R -> RSRLSSCX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@E636X637(1); standard; MUTATION; TK Accession K00303 Systematic name g.68279dupT, c.1905dupT, r.1905dupu, p.Glu636X Description A duplication mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10612838 RefAuthors Orlandi, P., Ritis, K., Moschese, V., Angelini, F., RefAuthors Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., RefAuthors Rossi, P. RefTitle Identification of nine novel mutations in the Bruton's RefTitle tyrosine kinase gene in X-linked agammaglobulinemia patients RefLoc Hum. Mutat. 15:117 (2000) DB CrossRef BTKbase; A0624 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 68280 Feature /change: +t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2038 Feature /codon: gag -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 636 Feature /change: E -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#D401X404(1); standard; MUTATION; TK Accession K00304 Systematic name g.64545delC, c.1203delC, r.1203delc, p.Leu402fsX0 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0885 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 64545 Feature /change: -c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1335 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 401 Feature /change: D -> DX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_#L616-1(1); standard; MUTATION; TK Accession K00306 Systematic name g.68220delC, c.1846delC, r.1846delc, p.Leu616fsX32 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0595 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68220 Feature /change: -c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1978 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 616 Feature /change: L -> STGLIWLQRR YIPSCTVVGM RKQMSVPLSK FFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W581R(1); standard; MUTATION; TK Accession K00307 Systematic name g.67596T>C, c.1741T>C, r.1741u>c, p.Trp581Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) DB CrossRef BTKbase; A0900 DB CrossRef OMIM; 300300.0043 DB CrossRef SWISSCHANGE; BTK_HUMAN_55 DB CrossRef SWISS-PROT; Q06187:581_581 DB CrossRef BTKbase; A0097 DB CrossRef BTKbase; A0899 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67596 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1873 Feature /codon: tgg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 Feature /change: W -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destabilization of hydrophobic packing; ref [2] // ID BTK_P566S(1); standard; MUTATION; TK Accession K00308 Systematic name g.67551C>T, c.1696C>T, r.1696c>u, p.Pro566Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0740 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67551 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1828 Feature /codon: ccg -> tcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 566 Feature /change: P -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S538P(1); standard; MUTATION; TK Accession K00309 Systematic name g.66826T>C, c.1612T>C, r.1612u>c, p.Ser538Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0894 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66826 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1744 Feature /codon: tct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 538 Feature /change: S -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@Y627X651(1); standard; MUTATION; TK Accession K00310 Systematic name g.68253T>C, c.1879T>C, r.1879u>c, p.Tyr627His Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10887125 RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M., RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, RefAuthors K., Kishimoto, T., Miyawaki, T. RefTitle Genetic defect in human X-linked agammaglobulinemia RefTitle impedes a maturational evolution of pro-B cells into a RefTitle later stage of pre-B cells in the B-cell differentiation RefTitle pathway RefLoc Blood 96:610-617(2000) DB CrossRef BTKbase; A0724 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68253 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2011 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 627 Feature /change: Y -> H Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_I429N(1); standard; MUTATION; TK Accession K00311 Systematic name g.64628T>A, c.1286T>A, r.1286u>a, p.Ile429Asn Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8634718 RefAuthors Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., RefAuthors Webster, A. D. B., Smith, C. I. E. RefTitle Improved oligonucleotide primer set for molecular RefTitle diagnosis of X-linked agammaglobulinemia: predominance of RefTitle amino acid substitutions in the catalytic domain of RefTitle Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 4:2403-2405(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_34 DB CrossRef SWISS-PROT; Q06187:429_429 DB CrossRef BTKbase; A0203 DB CrossRef Swiss-Prot variant; VAR_006241 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64628 Feature /change: t -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1418 Feature /codon: atc -> aac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 429 Feature /change: I -> N Feature /domain: TK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disturbs domain-domain interactions Protein struct ref [2] // ID BTK_#M489X498(2); standard; MUTATION; TK Accession K00312 Systematic name g.65323delT, c.1466delT, r.1466delu, p.Met489fsX10 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) DB CrossRef BTKbase; A0674 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65323 Feature /change: -t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1598 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 489 Feature /change: M -> SATASRLSSC X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_V537E(1); standard; MUTATION; TK Accession K00313 Systematic name g.66824T>A, c.1610T>A, r.1610u>a, p.Val537Glu Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10844531 RefAuthors Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., RefAuthors Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., RefAuthors Komiyama, A., Miyawaki, T. RefTitle Detection of Bruton's tyrosine kinase mutations in RefTitle hypogammaglobulinaemic males registered as common variable RefTitle immunodeficiency (CVID) in the Japanese Immunodeficiency RefTitle Registry RefLoc Clin. Exp. Immunol. 120:512-517(2000) DB CrossRef BTKbase; A0712 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66824 Feature /change: t -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1742 Feature /codon: gta -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 537 Feature /change: V -> E Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R525P(1); standard; MUTATION; TK Accession K00314 Systematic name g.66788G>C, c.1574G>C, r.1574g>c, p.Arg525Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) RefNumber [2] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 14974089 RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher, RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, RefAuthors L. D. RefTitle BTK: 22 novel and 25 recurrent mutations in european RefTitle patients with X-linked agammaglobulinemia. RefLoc Hum Mutat 23:286 (2004) DB CrossRef BTKbase; A0703 DB CrossRef SWISSCHANGE; BTK_HUMAN_47 DB CrossRef SWISS-PROT; Q06187:525_525 DB CrossRef BTKbase; A0119 DB CrossRef BTKbase; A0974 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66788 Feature /change: g -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1706 Feature /codon: cga -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Distortion of catalytic site Protein struct ref [2] // ID BTK_Q612P(1); standard; MUTATION; TK Accession K00315 Systematic name g.68209A>C, c.1835A>C, r.1835a>c, p.Gln612Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0903 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68209 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1967 Feature /codon: caa -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Q379X(1); standard; MUTATION; TK Accession K00316 Systematic name g.63924C>T, c.1135C>T, r.1135c>u, p.Gln379X Description A point mutation in the exon 13 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0334 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63924 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1267 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 379 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Truncated protein; ref [2] // ID BTK_#G533X555(1); standard; MUTATION; TK Accession K00317 Systematic name g.66811delG, c.1597delG, r.1597delg, p.Gly533fsX22 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0501 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66811 Feature /change: -g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1729 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 533 Feature /change: G -> ELLKYLISAC PGMSWMMNTQ AQX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_G541D(1); standard; MUTATION; TK Accession K00319 Systematic name g.66836G>A, c.1622G>A, r.1622g>a, p.Gly541Asp Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0895 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66836 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1754 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 541 Feature /change: G -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_#H635X648(1); standard; MUTATION; TK Accession K00321 Systematic name g.68278delA, c.1904delA, r.1904dela, p.His635fsX13 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org RefNumber [2] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0597 DB CrossRef BTKbase; A1180 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68278 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2036 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 635 Feature /change: H -> LRKQMSVPLS KFFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_C502F(1); standard; MUTATION; TK Accession K00322 Systematic name g.65362G>T, c.1505G>T, r.1505g>u, p.Cys502Phe Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (24-May-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_38 DB CrossRef SWISS-PROT; Q06187:502_502 DB CrossRef BTKbase; A0182 DB CrossRef BTKbase; A0183 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65362 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1637 Feature /codon: tgc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 502 Feature /change: C -> F Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] // ID BTK_L486P(1); standard; MUTATION; TK Accession K00323 Systematic name g.65314T>C, c.1457T>C, r.1457u>c, p.Leu486Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0743 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65314 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1589 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 486 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#I590X648(1); standard; MUTATION; TK Accession K00324 Systematic name g.68142delA, c.1768delA, r.1768dela, p.Ile590fsX58 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0902 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68142 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1900 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 590 Feature /change: I -> Feature /change: FTPWGRCHMR DLLTVRLLNT LPKAYVSTGL IWLQRRYIPS Feature /change: CTVVGMRKQM SVPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S592P(1); standard; MUTATION; TK Accession K00325 Systematic name g.68148T>C, c.1774T>C, r.1774u>c, p.Ser592Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) DB CrossRef SWISSCHANGE; BTK_HUMAN_60 DB CrossRef SWISS-PROT; Q06187:592_592 DB CrossRef BTKbase; A0219 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68148 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1906 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 592 Feature /change: S -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S592Y(1); standard; MUTATION; TK Accession K00326 Systematic name g.68149C>A, c.1775C>A, r.1775c>a, p.Ser592Tyr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10844531 RefAuthors Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., RefAuthors Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., RefAuthors Komiyama, A., Miyawaki, T. RefTitle Detection of Bruton's tyrosine kinase mutations in RefTitle hypogammaglobulinaemic males registered as common variable RefTitle immunodeficiency (CVID) in the Japanese Immunodeficiency RefTitle Registry RefLoc Clin. Exp. Immunol. 120:512-517(2000) DB CrossRef BTKbase; A0714 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68149 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1907 Feature /codon: tcc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 592 Feature /change: S -> Y Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y485X(1); standard; MUTATION; TK Accession K00327 Systematic name g.65312C>A, c.1455C>A, r.1455c>a, p.Tyr485X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefAuthors Noordzij, J.G. RefTitle Genotypic and phenotypic aspects of primary RefTitle immunodeficiency diseases of the lymphoid system RefLoc Thesis (2002), Erasmus University Rotterdam, RefLoc The Netherlands RefNumber [2] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [3] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef BTKbase; A0819 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65312 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1587 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 485 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#L621X648(1); standard; MUTATION; TK Accession K00329 Systematic name g.68237delG, c.1863delG, r.1863delg, p.Ala622fsX26 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (26-Oct-1998) to BTKbase. RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box RefLoc 356320, University of Washington, School of Medicine RefLoc Seattle, WA 98195-6320; fax 206 543 3184; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0536 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68237 Feature /change: -g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1995 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 621 Feature /change: L -> LLQRRYIPSC TVVGMRKQMS VPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E589D(1); standard; MUTATION; TK Accession K00330 Systematic name g.68141A>T, c.1767A>T, r.1767a>u, p.Glu589Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef BTKbase; A0260 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68141 Feature /change: a -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1899 Feature /codon: gaa -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 589 Feature /change: E -> D Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Affects substrate binding Protein struct ref [2] // ID BTK_K430R(1); standard; MUTATION; TK Accession K00331 Systematic name g.64631A>G, c.1289A>G, r.1289a>g, p.Lys430Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J. E., Rohrer, J., Conley, M. E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [2] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0466 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64631 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1421 Feature /codon: aag -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_G594R(2); standard; MUTATION; TK Accession K00333 Systematic name g.68154G>A, c.1780G>A, r.1780g>a, p.Gly594Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_62 DB CrossRef SWISS-PROT; Q06187:594_594 DB CrossRef BTKbase; A0123 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68154 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1912 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 594 Feature /change: G -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Affects substrate binding Protein struct ref [2] // ID BTK_@I610X649(1); standard; MUTATION; TK Accession K00334 Systematic name g.68202_68203insC, c.1828_1829insC, r.1828_1829insc, Systematic name p.Ile610fsX26 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (01-Oct-2001) to BTKbase. RefLoc Michael Okoh; Department of Biosciences, Division of RefLoc Biochemistry, P. O. Box 56, FIN-00014 University of RefLoc Helsinki, Finland; Tel +358-9-19159682; e-mail RefLoc okoh@helsinki.fi RefNumber [2] RefCrossRef PUBMED; 12442285 RefAuthors Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., RefAuthors Varming, K., Ruuskanen, O., Vihinen, M. RefTitle Novel insertions of bruton tyrosine kinase in patients RefTitle with X-linked agammaglobulinemia. RefLoc Hum Mutat 20:480-481 (2002) DB CrossRef BTKbase; A0799 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68203 Feature /change: +c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1961 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 610 Feature /change: I -> TCPRPTSLQA SSGFREGIYH HVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#G584X586(1); standard; MUTATION; TK Accession K00335 Systematic name g.67605delG, c.1750delG, r.1750delg, p.Val585fsX1 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (22-Sep-1997) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0453 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67605 Feature /change: -g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1882 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 Feature /change: G -> GFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_P619A(1); standard; MUTATION; TK Accession K00337 Systematic name g.68229C>G, c.1855C>G, r.1855c>g, p.Pro619Ala Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0438 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68229 Feature /change: c -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1987 Feature /codon: cct -> gct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> A Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M587L(1); standard; MUTATION; TK Accession K00338 Systematic name g.68133A>C, c.1759A>C, r.1759a>c, p.Met587Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_57 DB CrossRef SWISS-PROT; Q06187:587_587 DB CrossRef BTKbase; A0136 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68133 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1891 Feature /codon: atg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 587 Feature /change: M -> L Feature /domain: TK Diagnosis Mild XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Destabilization of hydrophobic packing; ref [2] // ID BTK_C502X(1); standard; MUTATION; TK Accession K00339 Systematic name g.65363C>A, c.1506C>A, r.1506c>a, p.Cys502X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef OMIM; 300300.0034 DB CrossRef BTKbase; A0055 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65363 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1638 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 502 Feature /change: C -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // // ID BTK_L569P(1); standard; MUTATION; TK Accession K00341 Systematic name g.67561T>C, c.1706T>C, r.1706u>c, p.Leu569Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0588 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67561 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1838 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 569 Feature /change: L -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y418H(1); standard; MUTATION; TK Accession K00342 Systematic name g.64594T>C, c.1252T>C, r.1252u>c, p.Tyr418His Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (24-May-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_33 DB CrossRef SWISS-PROT; Q06187:418_418 DB CrossRef BTKbase; A0198 DB CrossRef Swiss-Prot variant; VAR_006240 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64594 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1384 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 418 Feature /change: Y -> H Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disturbs domain-domain interactions Protein struct ref [2] // ID BTK_D521H(1); standard; MUTATION; TK Accession K00344 Systematic name g.65418G>C, c.1561G>C, r.1561g>c, p.Asp521His Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef SWISSCHANGE; BTK_HUMAN_45 DB CrossRef SWISS-PROT; Q06187:521_521 DB CrossRef BTKbase; A0315 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65418 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1693 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 521 Feature /change: D -> H Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MERTK_R651X(1); standard; MUTATION; PK Accession K00345 Systematic name g.110731C>T, c.1951C>T, r.1951c>u, p.Arg651X Description A point mutation in the exon 14 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11062461 RefAuthors Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., RefAuthors Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D. RefTitle Mutations in MERTK, the human orthologue of the RCS rat RefTitle retinal dystrophy gene, cause retinitis pigmentosa. RefLoc Nat Genet 26:270-271 (2000) DB CrossRef OMIM; 604705.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MERTK_DNA: 110731 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U08023; GI:10720097; HS08023: 2088 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: MERK_HUMAN: 651 Feature /change: R -> X Feature /domain: PK Diagnosis Retinitis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MERTK_#T690X732(1); standard; MUTATION; PK Accession K00346 Systematic name g.112322delA, c.2070delA, r.2070dela, p.Gly691fsX10 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11062461 RefAuthors Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., RefAuthors Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D. RefTitle Mutations in MERTK, the human orthologue of the RCS rat RefTitle retinal dystrophy gene, cause retinitis pigmentosa. RefLoc Nat Genet 26:270-271 (2000) DB CrossRef OMIM; 604705.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: MERTK_DNA: 112322 Feature /change: -a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U08023; GI:10720097; HS08023: 2207 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: MERK_HUMAN: 690 Feature /change: T -> TDQSIFLCRH YX Feature /domain: PK Diagnosis Retinitis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID KIT_R796G(1); standard; MUTATION; PK Accession K00347 Systematic name g.76079A>G, c.2386A>G, r.2386a>g, p.Arg796Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9450866 RefAuthors Spritz, R. A., Beighton, P. RefTitle Piebaldism with deafness: molecular evidence for an RefTitle expanded syndrome. RefLoc Am J Med Genet 75:101-103 (1998) DB CrossRef OMIM; 164920.0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76079 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2407 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 796 Feature /change: R -> G Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_T847P(1); standard; MUTATION; PK Accession K00348 Systematic name g.79537A>C, c.2539A>C, r.2539a>c, p.Thr847Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9699740 RefAuthors Nomura, K., Hatayama, I., Narita, T., Kaneko, T., RefAuthors Shiraishi, M. RefTitle A novel KIT gene missense mutation in a japanese family RefTitle with piebaldism. RefLoc J Invest Dermatol 111:337-338 () DB CrossRef OMIM; 164920.0019 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79537 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2560 Feature /codon: acg -> ccg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 847 Feature /change: T -> P Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_D816H(1); standard; MUTATION; PK Accession K00349 Systematic name g.76139G>C, c.2446G>C, r.2446g>c, p.Asp816His Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 10362788 RefAuthors Tian, Q., Frierson, H. F., Krystal, G. W., Moskaluk, C. A. RefTitle Activating c-kit gene mutations in human germ cell tumors. RefLoc Am J Pathol 154:1643-1647 () RefNumber [2] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) RefNumber [3] RefCrossRef PUBMED; 12824871 RefAuthors Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, RefAuthors K. RefTitle Alterations of the c-kit gene in testicular germ cell RefTitle tumors. RefLoc Cancer Sci 94:486-491 (2003) RefNumber [4] RefCrossRef PUBMED; 12701114 RefAuthors Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., RefAuthors Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, RefAuthors M., Brynes, R. K. RefTitle Systemic mastocytosis with associated clonal hematological RefTitle non-mast-cell lineage disease: analysis of RefTitle clinicopathologic features and activating c-kit mutations. RefLoc Am J Hematol 73:12-17 (2003) RefNumber [11] RefCrossRef PUBMED; 16129374 RefAuthors Grimpen, F., Yip, D., McArthur, G., Waring, P., Goldstein, RefAuthors D., Loughrey, M., Beshay, V., Chong, G. RefTitle Resistance to imatinib, low-grade FDG-avidity on PET, and RefTitle acquired KIT exon 17 mutation in gastrointestinal stromal RefTitle tumour. RefLoc Lancet Oncol 6:724-7 DB CrossRef OMIM; 164920.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76139 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2467 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> H Feature /domain: PK Diagnosis Germ cell tumor Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 10; Patients: 10; Homozygotes: 0 // ID KIT_#K642X648(2); standard; MUTATION; PK Accession K00350 Systematic name g.71040delA, c.1924delA, r.1924dela, p.Val643fsX1 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 1279971 RefAuthors Spritz, R. A., Droetto, S., Fukushima, Y. RefTitle Deletion of the KIT and PDGFRA genes in a patient with RefTitle piebaldism. RefLoc Am J Med Genet 44:492-495 () Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71040 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1945 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> KSX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_R791G(1); standard; MUTATION; PK Accession K00351 Systematic name g.76064A>G, c.2371A>G, r.2371a>g, p.Arg791Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7687267 RefAuthors Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W. RefTitle Novel mutations of the KIT (mast/stem cell growth factor RefTitle receptor) proto-oncogene in human piebaldism. RefLoc J Invest Dermatol 101:22-25 () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76064 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2392 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 791 Feature /change: R -> G Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_G812V(1); standard; MUTATION; PK Accession K00352 Systematic name g.76128G>T, c.2435G>T, r.2435g>u, p.Gly812Val Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7687267 RefAuthors Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W. RefTitle Novel mutations of the KIT (mast/stem cell growth factor RefTitle receptor) proto-oncogene in human piebaldism. RefLoc J Invest Dermatol 101:22-25 () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76128 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2456 Feature /codon: ggt -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 812 Feature /change: G -> V Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 3; Homozygotes: // ID KIT_D816Y(1); standard; MUTATION; PK Accession K00353 Systematic name g.76139G>T, c.2446G>T, r.2446g>u, p.Asp816Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 9657776 RefAuthors Beghini, A., Larizza, L., Cairoli, R., Morra, E. RefTitle C-kit activating mutations and mast cell proliferation in RefTitle human leukemia. RefLoc Blood 92:701-702 () RefNumber [2] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) RefNumber [3] RefCrossRef PUBMED; 16384925 RefAuthors Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, RefAuthors F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., RefAuthors Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, RefAuthors F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, RefAuthors L., Morra, E. RefTitle Prognostic impact of c-KIT mutations in core binding RefTitle factor leukemias: an italian retrospective study. RefLoc Blood:3463-3468 (2006) RefNumber [24] RefCrossRef PUBMED; 19865100 RefAuthors Bodemer, C., Hermine, O., Palmerini, F., Yang, Y., RefAuthors Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., RefAuthors Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., RefAuthors Launay, J. M., Barete, S., Feger, F., Arock, M., Catteau, RefAuthors B., Sans, B., Stalder, J. F., Skowron, F., Thomas, L., RefAuthors Lorette, G., Plantin, P., Bordigoni, P., Lortholary, O., RefAuthors de Prost, Y., Moussy, A., Sobol, H., Dubreuil, P. RefTitle Pediatric mastocytosis is a clonal disease associated with RefTitle D816V and other activating c-KIT mutations. RefLoc J Invest Dermatol 130:804-15 DB CrossRef OMIM; 164920.0018 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76139 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2467 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> Y Feature /domain: PK Diagnosis Acute myeloid leukemia Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID KIT_#E893-4(1); standard; MUTATION; PK Accession K00354 Systematic name g.79787delA, c.2678delA, r.2678dela, p.Glu893fsX9 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8680409 RefAuthors Riva, P., Milani, N., Gandolfi, P., Larizza, L. RefTitle A 12-bp deletion (7818del12) in the c-kit protooncogene in RefTitle a large italian kindred with piebaldism. RefLoc Hum Mutat 6:343-345 () Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 79787 Feature /change: -a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 2699 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 893 Feature /change: E -> DTHLLKCMTX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 3; Homozygotes: // ID FGFR3_N540S(1); standard; MUTATION; PK Accession K00355 Systematic name g.12748A>G, c.1619A>G, r.1619a>g, p.Asn540Ser Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10777366 RefAuthors Mortier, G., Nuytinck, L., Craen, M., Renard, J. P., RefAuthors Leroy, J. G., de Paepe, A. RefTitle Clinical and radiographic features of a family with RefTitle hypochondroplasia owing to a novel asn540Ser mutation in RefTitle the fibroblast growth factor receptor 3 gene. RefLoc J Med Genet 37:220-224 (2000) DB CrossRef OMIM; 134934.0023 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12748 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1658 Feature /codon: aac -> agc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> S Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 2; Homozygotes: // ID FGFR3_K650N(1); standard; MUTATION; PK Accession K00356 Systematic name g.13269G>T, c.1950G>T, r.1950g>u, p.Lys650Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11055896 RefAuthors Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. RefAuthors A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. RefAuthors S., Webster, M. K., Donoghue, D. J., Francomano, C. A. RefTitle Distinct missense mutations of the FGFR3 lys650 codon RefTitle modulate receptor kinase activation and the severity of RefTitle the skeletal dysplasia phenotype. RefLoc Am J Hum Genet 67:1411-1421 () DB CrossRef OMIM; 134934.0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13269 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1989 Feature /codon: aag -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> N Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 1; Homozygotes: // ID FGFR3_K650N(2); standard; MUTATION; PK Accession K00357 Systematic name g.13269G>C, c.1950G>C, r.1950g>c, p.Lys650Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11055896 RefAuthors Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. RefAuthors A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. RefAuthors S., Webster, M. K., Donoghue, D. J., Francomano, C. A. RefTitle Distinct missense mutations of the FGFR3 lys650 codon RefTitle modulate receptor kinase activation and the severity of RefTitle the skeletal dysplasia phenotype. RefLoc Am J Hum Genet 67:1411-1421 () DB CrossRef OMIM; 134934.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13269 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1989 Feature /codon: aag -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> N Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 3; Patients: 4; Homozygotes: // ID FGFR3_K650Q(1); standard; MUTATION; PK Accession K00358 Systematic name g.13267A>C, c.1948A>C, r.1948a>c, p.Lys650Gln Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11055896 RefAuthors Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. RefAuthors A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. RefAuthors S., Webster, M. K., Donoghue, D. J., Francomano, C. A. RefTitle Distinct missense mutations of the FGFR3 lys650 codon RefTitle modulate receptor kinase activation and the severity of RefTitle the skeletal dysplasia phenotype. RefLoc Am J Hum Genet 67:1411-1421 () RefNumber [38] RefCrossRef PUBMED; 17585316 RefAuthors Hafner, C., Hartmann, A., van Oers, J. M., Stoehr, R., RefAuthors Zwarthoff, E. C., Hofstaedter, F., Landthaler, M., Vogt, RefAuthors T. RefTitle FGFR3 mutations in seborrheic keratoses are already RefTitle present in flat lesions and associated with age and RefTitle localization. RefLoc Mod Pathol 20:895-903 DB CrossRef OMIM; 134934.0022 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13267 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1987 Feature /codon: aag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> Q Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ROR2_W720X(1); standard; MUTATION; STR1 Accession K00359 Systematic name g.226829G>A, c.2160G>A, r.2160g>a, p.Trp720X Description A point mutation in the exon 9 leading to a premature stop Description codon in the STR1 domain Date 24-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10932187 RefAuthors van Bokhoven, H., Celli, J., Kayserili, H., van Beusekom, RefAuthors E., Balci, S., Brussel, W., Skovby, F., Kerr, B., Percin, RefAuthors E. F., Akarsu, N., Brunner, H. G. RefTitle Mutation of the gene encoding the ROR2 tyrosine kinase RefTitle causes autosomal recessive robinow syndrome. RefLoc Nat Genet 25:423-426 () DB CrossRef OMIM; 602337.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 226829 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 2359 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ROR2_HUMAN: 720 Feature /change: W -> X Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 1; Patients: 4; Homozygotes: 4 // ID ROR2_N620K(1); standard; MUTATION; STR1 Accession K00360 Systematic name g.226529T>A, c.1860T>A, r.1860u>a, p.Asn620Lys Description A point mutation in the exon 9 leading to an amino acid Description change in the STR1 domain Date 24-Sep-2003 (Rel. 2, Created) Date 24-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10932186 RefAuthors Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., RefAuthors Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., RefAuthors Patton, M. A., Wilkie, A. O., Jeffery, S. RefTitle Recessive robinow syndrome, allelic to dominant RefTitle brachydactyly type B, is caused by mutation of ROR2. RefLoc Nat Genet 25:419-422 () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 226529 Feature /change: t -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 2059 Feature /codon: aat -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ROR2_HUMAN: 620 Feature /change: N -> K Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID ROR2_Q502X(1); standard; MUTATION; STR1 Accession K00361 Systematic name g.226173C>T, c.1504C>T, r.1504c>u, p.Gln502X Description A point mutation in the exon 9 leading to a premature stop Description codon in the STR1 domain Date 24-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10932186 RefAuthors Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., RefAuthors Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., RefAuthors Patton, M. A., Wilkie, A. O., Jeffery, S. RefTitle Recessive robinow syndrome, allelic to dominant RefTitle brachydactyly type B, is caused by mutation of ROR2. RefLoc Nat Genet 25:419-422 () DB CrossRef OMIM; 602337.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 226173 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 1703 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ROR2_HUMAN: 502 Feature /change: Q -> X Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 7; Patients: 14; Homozygotes: 14 // ID CHEK2_#T367X381(1); standard; MUTATION; PK Accession K00362 Systematic name g.49841delC, c.1100delC, r.1100delc, p.Thr367fsX14 Description A frame shift deletion mutation in the exon 11 leading to a Description premature stop codon in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 11) RefNumber [1] RefCrossRef PUBMED; 10617473 RefAuthors Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., RefAuthors Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, RefAuthors S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., RefAuthors Li, F. P., Garber, J. E., Haber, D. A. RefTitle Heterozygous germ line hCHK2 mutations in li-fraumeni RefTitle syndrome. RefLoc Science 286:2528-2531 () RefNumber [2] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) RefNumber [3] RefCrossRef PUBMED; 11967536 RefAuthors Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., RefAuthors Wasielewski, M., de Snoo, A., Oldenburg, R., Hollestelle, RefAuthors A., Houben, M., Crepin, E., van Veghel-Plandsoen, M., RefAuthors Elstrodt, F., van Duijn, C., Bartels, C., Meijers, C., RefAuthors Schutte, M., McGuffog, L., Thompson, D., Easton, D., RefAuthors Sodha, N., Seal, S., Barfoot, R., Mangion, J., Chang- RefAuthors Claude, J., Eccles, D., Eeles, R., Evans, D. G., Houlston, RefAuthors R., Murday, V., Narod, S., Peretz, T., Peto, J., Phelan, RefAuthors C., Zhang, H. X., Szabo, C., Devilee, P., Goldgar, D., RefAuthors Futreal, P. A., Nathanson, K. L., Weber, B., Rahman, N., RefAuthors Stratton, M. R. RefTitle Low-penetrance susceptibility to breast cancer due to RefTitle CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 RefTitle mutations. RefLoc Nat Genet 31:55-59 (2002) RefNumber [4] RefCrossRef PUBMED; 12094328 RefAuthors Vahteristo, P., Bartkova, J., Eerola, H., Syrjakoski, K., RefAuthors Ojala, S., Kilpivaara, O., Tamminen, A., Kononen, J., RefAuthors Aittomaki, K., Heikkila, P., Holli, K., Blomqvist, C., RefAuthors Bartek, J., Kallioniemi, O. P., Nevanlinna, H. RefTitle A CHEK2 genetic variant contributing to a substantial RefTitle fraction of familial breast cancer. RefLoc Am J Hum Genet 71:432-438 (2002) RefNumber [5] RefCrossRef PUBMED; 14612911 RefAuthors Seppala, E. H., Ikonen, T., Mononen, N., Autio, V., RefAuthors Rokman, A., Matikainen, M. P., Tammela, T. L., Schleutker, RefAuthors J. RefTitle CHEK2 variants associate with hereditary prostate cancer. RefLoc Br J Cancer 89:1966-1970 (2003) RefNumber [6] RefCrossRef PUBMED; 14568168 RefAuthors Lipton, L., Fleischmann, C., Sieber, O. M., Thomas, H. J., RefAuthors Hodgson, S. V., Tomlinson, I. P., Houlston, R. S. RefTitle Contribution of the CHEK2 1100delC variant to risk of RefTitle multiple colorectal adenoma and carcinoma. RefLoc Cancer Lett 200:149-152 (2003) RefNumber [7] RefCrossRef PUBMED; 12529183 RefAuthors Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., RefAuthors Rapaport, B., Gregersen, P., Johnson, S., Yossepowitch, RefAuthors O., Huang, H., Satagopan, J., Robson, M., Scheuer, L., RefAuthors Nafa, K., Ellis, N. RefTitle Frequency of CHEK2*1100delC in new york breast cancer RefTitle cases and controls. RefLoc BMC Med Genet 4:1 (2003) RefNumber [8] RefCrossRef PUBMED; 14569133 RefAuthors Kilpivaara, O., Laiho, P., Aaltonen, L. A., Nevanlinna, H. RefTitle CHEK2 1100delC and colorectal cancer. RefLoc J Med Genet 40:e110 (2003) DB CrossRef OMIM; 604373.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: CHEK2_DNA: 49841 Feature /change: -c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1136 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CHK2_HUMAN: 367 Feature /change: T -> MILGTPRFWE RPLSX Feature /domain: PK Diagnosis Li-Fraumeni syndrome Diagnosis Breast cancer Diagnosis Hereditary prostate cancer (HPC) Diagnosis Colorectal cancer or risk Diagnosis Hereditary prostate cancer (HPC) Occurrence Families: 175; Patients: 157; Homozygotes: 0 // ID CHEK2_#R474X481(1); standard; MUTATION; PK Accession K00363 Systematic name g.51639delT, c.1422delT, r.1422delu, p.Phe475fsX6 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10617473 RefAuthors Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., RefAuthors Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, RefAuthors S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., RefAuthors Li, F. P., Garber, J. E., Haber, D. A. RefTitle Heterozygous germ line hCHK2 mutations in li-fraumeni RefTitle syndrome. RefLoc Science 286:2528-2531 () DB CrossRef OMIM; 604373.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: CHEK2_DNA: 51639 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1458 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CHK2_HUMAN: 474 Feature /change: R -> RLRQKKPX Feature /domain: PK Diagnosis Li-Fraumeni syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_G857R(1); standard; MUTATION; PK Accession K00364 Systematic name g.30803G>A, c.2569G>A, r.2569g>a, p.Gly857Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) DB CrossRef OMIM; 136352.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 30803 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2590 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 857 Feature /change: G -> R Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 5; Homozygotes: // ID FLT4_R1041P(1); standard; MUTATION; PK Accession K00365 Systematic name g.34082G>C, c.3122G>C, r.3122g>c, p.Arg1041Pro Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) DB CrossRef OMIM; 136352.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34082 Feature /change: g -> c Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3143 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1041 Feature /change: R -> P Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 9; Homozygotes: 0 // ID FLT4_L1044P(1); standard; MUTATION; PK Accession K00366 Systematic name g.34091T>C, c.3131T>C, r.3131u>c, p.Leu1044Pro Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) DB CrossRef OMIM; 136352.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34091 Feature /change: t -> c Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3152 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1044 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 16; Homozygotes: 0 // ID FLT4_P1114L(1); standard; MUTATION; PK Accession K00367 Systematic name g.37445C>T, c.3341C>T, r.3341c>u, p.Pro1114Leu Description A point mutation in the exon 25 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) RefNumber [2] RefCrossRef PUBMED; 9817924 RefAuthors Ferrell, R. E., Levinson, K. L., Esman, J. H., Kimak, M. RefAuthors A., Lawrence, E. C., Barmada, M. M., Finegold, D. N. RefTitle Hereditary lymphedema: evidence for linkage and genetic RefTitle heterogeneity. RefLoc Hum Mol Genet 7:2073-2078 (1998) DB CrossRef OMIM; 136352.0001 DB CrossRef OMIM; 136352.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 37445 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 25 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3362 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1114 Feature /change: P -> L Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID FLT4_H1035R(1); standard; MUTATION; PK Accession K00368 Systematic name g.34064A>G, c.3104A>G, r.3104a>g, p.His1035Arg Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 10856194 RefAuthors Irrthum, A., Karkkainen, M. J., Devriendt, K., Alitalo, RefAuthors K., Vikkula, M. RefTitle Congenital hereditary lymphedema caused by a mutation that RefTitle inactivates VEGFR3 tyrosine kinase. RefLoc Am J Hum Genet 67:295-301 (2000) DB CrossRef OMIM; 136352.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34064 Feature /change: a -> g Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3125 Feature /codon: cac -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1035 Feature /change: H -> R Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 5; Homozygotes: // ID STK11_G135R(1); standard; MUTATION; PK Accession K00369 Systematic name g.13439G>C, c.403G>C, r.403g>c, p.Gly135Arg Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10201537 RefAuthors Rowan, A., Bataille, V., MacKie, R., Healy, E., Bicknell, RefAuthors D., Bodmer, W., Tomlinson, I. RefTitle Somatic mutations in the peutz-jeghers (LKB1/STKII) gene RefTitle in sporadic malignant melanomas. RefLoc J Invest Dermatol 112:509-511 (1999) DB CrossRef OMIM; 602216.0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 13439 Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 741 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 135 Feature /change: G -> R Feature /domain: PK Diagnosis Sporadic malignant melanoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_D194V(1); standard; MUTATION; PK Accession K00370 Systematic name g.14576A>T, c.581A>T, r.581a>u, p.Asp194Val Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10079245 RefAuthors Avizienyte, E., Loukola, A., Roth, S., Hemminki, A., RefAuthors Tarkkanen, M., Salovaara, R., Arola, J., Butzow, R., RefAuthors Husgafvel-Pursiainen, K., Kokkola, A., Jarvinen, H., RefAuthors Aaltonen, L. A. RefTitle LKB1 somatic mutations in sporadic tumors. RefLoc Am J Pathol 154:677-681 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14576 Feature /change: a -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 919 Feature /codon: gac -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 194 Feature /change: D -> V Feature /domain: PK Diagnosis Sporadic malignant melanoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_#H107-2(1); standard; MUTATION; PK Accession K00371 Systematic name g.12534delC, c.321delC, r.321delc, p.His107fsX21 Description A frame shift deletion mutation in the exon 2 leading to a Description premature stop codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10353780 RefLoc : () Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 12534 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 659 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 107 Feature /change: H -> QKMSSSWWMC YTTKRSRKCI WX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_K108R(1); standard; MUTATION; PK Accession K00372 Systematic name g.12536A>G, c.323A>G, r.323a>g, p.Lys108Arg Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10353780 RefLoc : () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12536 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 661 Feature /codon: aaa -> aga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 108 Feature /change: K -> R Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_E256A(1); standard; MUTATION; PK Accession K00373 Systematic name g.15332A>C, c.767A>C, r.767a>c, p.Glu256Ala Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10780518 RefAuthors Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. RefAuthors Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., RefAuthors Park, J. G. RefTitle Germline mutations of the STK11 gene in korean peutz- RefTitle jeghers syndrome patients. RefLoc Br J Cancer 82:1403-1406 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15332 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1105 Feature /codon: gaa -> gca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 256 Feature /change: E -> A Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_S232P(1); standard; MUTATION; PK Accession K00374 Systematic name g.14764T>C, c.694T>C, r.694u>c, p.Ser232Pro Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10780518 RefAuthors Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. RefAuthors Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., RefAuthors Park, J. G. RefTitle Germline mutations of the STK11 gene in korean peutz- RefTitle jeghers syndrome patients. RefLoc Br J Cancer 82:1403-1406 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14764 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1032 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 232 Feature /change: S -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 2; Homozygotes: // ID STK11_R297K(1); standard; MUTATION; PK Accession K00375 Systematic name g.16063G>A, c.890G>A, r.890g>a, p.Arg297Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10408777 RefAuthors Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., RefAuthors de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., RefAuthors Halley, D. J., de Rooij, F. W., Wilson, J. H. RefTitle Novel mutations in the LKB1/STK11 gene in dutch peutz- RefTitle jeghers families. RefLoc Hum Mutat 13:476-481 (1999) RefNumber [2] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 16063 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1228 Feature /codon: agg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 297 Feature /change: R -> K Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_D194N(1); standard; MUTATION; PK Accession K00376 Systematic name g.14575G>A, c.580G>A, r.580g>a, p.Asp194Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10408777 RefAuthors Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., RefAuthors de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., RefAuthors Halley, D. J., de Rooij, F. W., Wilson, J. H. RefTitle Novel mutations in the LKB1/STK11 gene in dutch peutz- RefTitle jeghers families. RefLoc Hum Mutat 13:476-481 (1999) RefNumber [2] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [5] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14575 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 918 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 194 Feature /change: D -> N Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 4; Patients: 7; Homozygotes: 0 // ID STK11_@D53X162(1); standard; MUTATION; PK Accession K00377 Systematic name g.1157dupG, c.157dupG, r.157dupg, p.Asp53fsX109 Description A frame shift duplication mutation in the exon 1 leading to Description a premature stop codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9934767 RefAuthors Trojan, J., Brieger, A., Raedle, J., Roth, W. K., Zeuzem, RefAuthors S. RefTitle Peutz-jeghers syndrome: molecular analysis of a three- RefTitle generation kindred with a novel defect in the serine RefTitle threonine kinase gene STK11. RefLoc Am J Gastroenterol 94:257-261 (1999) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [6] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 1158 Feature /change: +g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 496 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 53 Feature /change: D -> Feature /change: GPAGGRLLRQ GEGGAGLGDA VQEGRQDPQE EEVAKDPQRG Feature /change: GQREEGNSTT EEVTAQKCHP AGGCVIQRRE AENVYGDGVL Feature /change: RVWHAGNAGQ RAGEAFPSVP GPRVLLSADX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 7; Homozygotes: 0 // ID ACVRL1_S333I(1); standard; MUTATION; PK Accession K00378 Systematic name g.3976G>T, c.998G>T, r.998g>u, p.Ser333Ile Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3976 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1280 Feature /codon: agc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 333 Feature /change: S -> I Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_C308X(1); standard; MUTATION; PK Accession K00379 Systematic name g.3902C>A, c.924C>A, r.924c>a, p.Cys308X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 RefNumber [6] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 RefNumber [8] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3902 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1206 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 308 Feature /change: C -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID ACVRL1_@L289X391(1); standard; MUTATION; PK Accession K00380 Systematic name g.3842dupT, c.864dupT, r.864dupu, p.Leu289fsX102 Description A frame shift duplication mutation in the exon 6 leading to Description a premature stop codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ACVRL1_DNA: 3843 Feature /change: +t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1147 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 289 Feature /change: L -> Feature /change: SAETDAGAPS GSEASCVRGM RPGAPARGDL RYTGQTSHCP Feature /change: PRLQEPQCAG QEQPAVLHRR PGPGCDALTG QRLPGHRQQP Feature /change: ESGHQAVHGT RGAGRADPHG LLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: // ID JAK3_V722I(1); standard; MUTATION; PK1 Accession K00381 Systematic name g.14105G>A, c.2164G>A, r.2164g>a, p.Val722Ile Description A point mutation in the exon 16 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [2] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [3] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0012 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14105 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2259 Feature /codon: gtc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 722 Feature /change: V -> I Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 1; Sterical clash in core ref [2] // ID JAK3_C565X(1); standard; MUTATION; PK1 Accession K00382 Systematic name g.11054C>A, c.1695C>A, r.1695c>a, p.Cys565X Description A point mutation in the exon 12 leading to a premature stop Description codon in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7481768 RefAuthors Russell, S. M., Tayebi, N., Nakajima, H., Riedy, M. C., RefAuthors Roberts, J. L., Aman, M. A., Migone, T.-S., Noguchi, M., RefAuthors Markert, M. L., Buckley, R. H., O'Shea, J. J., RefAuthors Leonard, W. J. RefTitle Mutation of Jak3 in a patient with SCID: Essential role of RefTitle Jak3 in lymphoid development RefLoc Science 270:797-800 (1995) RefNumber [2] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef OMIM; 600173.0003 DB CrossRef OMIM; 600173.0004 DB CrossRef JAK3base; J0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 11054 Feature /change: c -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 1790 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 565 Feature /change: C -> X Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID JAK3_R651W(1); standard; MUTATION; PK1 Accession K00383 Systematic name g.13813C>T, c.1951C>T, r.1951c>u, p.Arg651Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0018 DB CrossRef JAK3base; J0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 13813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2046 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 651 Feature /change: R -> W Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 2 Comment -!-In one patient is in trans with E694K // ID JAK3_E694K(1); standard; MUTATION; PK1 Accession K00384 Systematic name g.14021G>A, c.2080G>A, r.2080g>a, p.Glu694Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14021 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2175 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 694 Feature /change: E -> K Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-In one patient is in trans with R651W // ID JAK3_P689S(1); standard; MUTATION; PK1 Accession K00386 Systematic name g.14006C>T, c.2065C>T, r.2065c>u, p.Pro689Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0017 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14006 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2160 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 689 Feature /change: P -> S Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID JAK3_Q766X(1); standard; MUTATION; PK1 Accession K00387 Systematic name g.14367C>T, c.2296C>T, r.2296c>u, p.Gln766X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0019 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14367 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2391 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 766 Feature /change: Q -> X Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID JAK3_C759R(1); standard; MUTATION; PK1 Accession K00388 Systematic name g.14346T>C, c.2275T>C, r.2275u>c, p.Cys759Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9354668 RefAuthors Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S., RefAuthors Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., RefAuthors Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P., RefAuthors Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J., RefAuthors Villa, A. RefTitle Structural and functional basis for JAK3-deficient severe RefTitle combined immunodeficiency RefLoc Blood 90:3996-4003 (1997) RefNumber [2] RefCrossRef PUBMED; 10419614 RefAuthors Schumacher, R. F., Mella, P., Lalatta, F., Fiorini, M., RefAuthors Giliani, S., Villa, A., Candotti, F., Notarangelo, L. D. RefTitle Prenatal diagnosis of JAK3 deficient SCID RefLoc Prenat. Diagn. 19:653-656(1999) RefNumber [3] RefCrossRef PUBMED; 10629052 RefAuthors Chen, M., Cheng, A., Candotti, F., Zhou, Y. J., Hymel, A., RefAuthors Fasth, A., Notarangelo, L. D., O'Shea, J. J. RefTitle Complex effects of naturally occurring mutations in the RefTitle JAK3 pseudokinase domain: evidence for interactions RefTitle between the kinase and pseudokinase domains RefLoc Mol. Cell. Biol. 20:947-956(2000) RefNumber [4] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [5] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [6] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14346 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2370 Feature /codon: tgc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 759 Feature /change: C -> R Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 2; Sterical clash ref [5] // ID JAK3_G589V(1); standard; MUTATION; PK1 Accession K00391 Systematic name g.11843C>T, c.1766C>T, r.1766c>u, p.Gly589Val Description A point mutation in the exon 13 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9354668 RefAuthors Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S., RefAuthors Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., RefAuthors Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P., RefAuthors Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J., RefAuthors Villa, A. RefTitle Structural and functional basis for JAK3-deficient severe RefTitle combined immunodeficiency RefLoc Blood 90:3996-4003 (1997) RefNumber [2] RefCrossRef PUBMED; 10629052 RefAuthors Chen, M., Cheng, A., Candotti, F., Zhou, Y. J., Hymel, A., RefAuthors Fasth, A., Notarangelo, L. D., O'Shea, J. J. RefTitle Complex effects of naturally occurring mutations in the RefTitle JAK3 pseudokinase domain: evidence for interactions RefTitle between the kinase and pseudokinase domains RefLoc Mol. Cell. Biol. 20:947-956(2000) RefNumber [3] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [4] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [5] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 11843 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 1861 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 589 Feature /change: G -> V Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 1 Protein struct Allele 1 and 2; Fold alteration ref [4] // ID JAK3_R582W(1); standard; MUTATION; PK1 Accession K00392 Systematic name g.11821C>T, c.1744C>T, r.1744c>u, p.Arg582Trp Description A point mutation in the exon 13 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 785357 RefAuthors Geha, R. S., Malakian, A., LeFranc, G., Chayban, D., RefAuthors Serre, J. L. RefTitle Immunologic reconstitution in severe combined RefTitle immunodeficiency following transplantation with parental RefTitle bone marrow RefLoc Pediatrics 58:451-455(1976) RefNumber [2] RefCrossRef PUBMED; 9753072 RefAuthors Bozzi, F., Lefranc, G., Villa, A., Badolato, R., RefAuthors Schumacher, R. F., Khalil, G., Loislet, J., Bresciani, RefAuthors S., O'Shea, J. J., Vezzoni, P., Notarangelo, L. D., RefAuthors Candotti, F. RefTitle Molecular and biochemical characterization of JAK3 RefTitle deficiency in a patient with severe combined RefTitle immunodeficiency over 20 years after bone marrow RefTitle transplantation: implications for treatment RefLoc Br. J. Haematol 102: 1363-6 (1998) RefNumber [3] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [4] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [5] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 11821 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 1839 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 582 Feature /change: R -> W Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 1 and 2; Altered ligand interaction ref [3] // ID JAK3_R771X(1); standard; MUTATION; PK1 Accession K00394 Systematic name g.14382C>T, c.2311C>T, r.2311c>u, p.Arg771X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0022 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14382 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2406 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 771 Feature /change: R -> X Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID JAK3dom2_#C1024X1037(1); standard; MUTATION; PK2 Accession K00395 Systematic name g.18465delC, c.3072delC, r.3072delc, p.Cys1024fsX13 Description A frame shift deletion mutation in the exon 22 leading to a Description premature stop codon in the PK2 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [2] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: JAK3_DNA: 18465 Feature /change: -c Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U09607; GI:1177044; U09607: 3167 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 1024 Feature /change: C -> WTKAAAPRPS SCGX Feature /domain: PK2 Diagnosis T-B+ severe combined immunodeficiency; mild phenotype Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 2; Truncation ref [1] // ID JAK3dom2_L910S(1); standard; MUTATION; PK2 Accession K00398 Systematic name g.17242T>C, c.2729T>C, r.2729u>c, p.Leu910Ser Description A point mutation in the exon 20 leading to an amino acid Description change in the PK2 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [2] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [3] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 17242 Feature /change: t -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1177044; U09607: 2824 Feature /codon: ttg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 910 Feature /change: L -> S Feature /domain: PK2 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 2; Truncation ref [2] // ID JAK3dom2_Y1023X(1); standard; MUTATION; PK2 Accession K00399 Systematic name g.18462C>A, c.3069C>A, r.3069c>a, p.Tyr1023X Description A point mutation in the exon 22 leading to a premature stop Description codon in the PK2 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 18462 Feature /change: c -> a Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1177044; U09607: 3164 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 1023 Feature /change: Y -> X Feature /domain: PK2 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_L74F(1); standard; MUTATION; PK1 Accession K00400 Systematic name g.58792A>C, c.222A>C, r.222a>c, p.Leu74Phe Description A point mutation in the exon 3 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58792 Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 222 Feature /codon: tta -> ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 74 Feature /change: L -> F Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_G80R(1); standard; MUTATION; PK1 Accession K00401 Systematic name g.58808G>A, c.238G>A, r.238g>a, p.Gly80Arg Description A point mutation in the exon 3 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58808 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 238 Feature /codon: gga -> aga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 80 Feature /change: G -> R Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_R114W(1); standard; MUTATION; PK1 Accession K00402 Systematic name g.72970C>T, c.340C>T, r.340c>u, p.Arg114Trp Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10094187 RefAuthors Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., RefAuthors Hanauer, A., Schwartz, C. E. RefTitle Novel mutations in rsk-2, the gene for coffin-lowry RefTitle syndrome (CLS). RefLoc Eur J Hum Genet 7:20-26 (1999) DB CrossRef OMIM; 300075.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72970 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 340 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 114 Feature /change: R -> W Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RPS6KA3_R119P(1); standard; MUTATION; PK1 Accession K00403 Systematic name g.72986G>C, c.356G>C, r.356g>c, p.Arg119Pro Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72986 Feature /change: g -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 356 Feature /codon: cgt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 119 Feature /change: R -> P Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_I189K(1); standard; MUTATION; PK1 Accession K00404 Systematic name g.74587T>A, c.566T>A, r.566u>a, p.Ile189Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10528858 RefAuthors Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., RefAuthors Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., RefAuthors Croquette, M. F., Hanauer, A. RefTitle Unreported RSK2 missense mutation in two male sibs with an RefTitle unusually mild form of coffin-lowry syndrome. RefLoc J Med Genet 36:775-778 (1999) DB CrossRef OMIM; 300075.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 74587 Feature /change: t -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 566 Feature /codon: ata -> aaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 189 Feature /change: I -> K Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_D193N(1); standard; MUTATION; PK1 Accession K00405 Systematic name g.74598G>A, c.577G>A, r.577g>a, p.Asp193Asn Description A point mutation in the exon 7 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 74598 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 577 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 193 Feature /change: D -> N Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_T231I(1); standard; MUTATION; PK1 Accession K00406 Systematic name g.80191C>T, c.692C>T, r.692c>u, p.Thr231Ile Description A point mutation in the exon 9 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9832033 RefAuthors Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., RefAuthors Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, RefAuthors W., Hanauer, A. RefTitle Rapid immunoblot and kinase assay tests for a syndromal RefTitle form of X linked mental retardation: coffin-lowry RefTitle syndrome. RefLoc J Med Genet 35:890-894 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80191 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 692 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 231 Feature /change: T -> I Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_E69X(1); standard; MUTATION; PK1 Accession K00407 Systematic name g.58775G>T, c.205G>T, r.205g>u, p.Glu69X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58775 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 205 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 69 Feature /change: E -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_Q269X(1); standard; MUTATION; PK1 Accession K00408 Systematic name g.81765C>T, c.805C>T, r.805c>u, p.Gln269X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81765 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 805 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 269 Feature /change: Q -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_R243X(1); standard; MUTATION; PK1 Accession K00409 Systematic name g.80226C>T, c.727C>T, r.727c>u, p.Arg243X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80226 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 727 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 243 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_L311X(1); standard; MUTATION; PK1 Accession K00410 Systematic name g.91103T>A, c.932T>A, r.932u>a, p.Leu311X Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9832033 RefAuthors Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., RefAuthors Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, RefAuthors W., Hanauer, A. RefTitle Rapid immunoblot and kinase assay tests for a syndromal RefTitle form of X linked mental retardation: coffin-lowry RefTitle syndrome. RefLoc J Med Genet 35:890-894 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91103 Feature /change: t -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 932 Feature /codon: tta -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 311 Feature /change: L -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_K451N(1); standard; MUTATION; PK2 Accession K00411 Systematic name g.95355G>C, c.1353G>C, r.1353g>c, p.Lys451Asn Description A point mutation in the exon 15 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95355 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1353 Feature /codon: aag -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 451 Feature /change: K -> N Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_L467R(1); standard; MUTATION; PK2 Accession K00412 Systematic name g.98656T>G, c.1400T>G, r.1400u>g, p.Leu467Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98656 Feature /change: t -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1400 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 467 Feature /change: L -> R Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_N475D(1); standard; MUTATION; PK2 Accession K00413 Systematic name g.98679A>G, c.1423A>G, r.1423a>g, p.Asn475Asp Description A point mutation in the exon 16 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98679 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1423 Feature /codon: aac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 475 Feature /change: N -> D Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_V492G(1); standard; MUTATION; PK2 Accession K00414 Systematic name g.100385T>G, c.1475T>G, r.1475u>g, p.Val492Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100385 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1475 Feature /codon: gta -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 492 Feature /change: V -> G Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID RPS6KA3dom2_M496R(1); standard; MUTATION; PK2 Accession K00415 Systematic name g.100397T>G, c.1487T>G, r.1487u>g, p.Met496Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100397 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1487 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 496 Feature /change: M -> R Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_H537L(1); standard; MUTATION; PK2 Accession K00416 Systematic name g.103048A>T, c.1610A>T, r.1610a>u, p.His537Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103048 Feature /change: a -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1610 Feature /codon: cat -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 537 Feature /change: H -> L Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_N544K(1); standard; MUTATION; PK2 Accession K00417 Systematic name g.103070C>A, c.1632C>A, r.1632c>a, p.Asn544Lys Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103070 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1632 Feature /codon: aac -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 544 Feature /change: N -> K Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_P587S(1); standard; MUTATION; PK2 Accession K00418 Systematic name g.103197C>T, c.1759C>T, r.1759c>u, p.Pro587Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103197 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1759 Feature /codon: cca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 587 Feature /change: P -> S Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID RPS6KA3dom2_N620D(1); standard; MUTATION; PK2 Accession K00419 Systematic name g.106356A>G, c.1858A>G, r.1858a>g, p.Asn620Asp Description A point mutation in the exon 20 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 106356 Feature /change: a -> g Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1858 Feature /codon: aat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 620 Feature /change: N -> D Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID RPS6KA3dom2_Q567X(1); standard; MUTATION; PK2 Accession K00420 Systematic name g.103137C>T, c.1699C>T, r.1699c>u, p.Gln567X Description A point mutation in the exon 18 leading to a premature stop Description codon in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103137 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1699 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 567 Feature /change: Q -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_R273X(1); standard; MUTATION; PK1 Accession K00421 Systematic name g.81777C>T, c.817C>T, r.817c>u, p.Arg273X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81777 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 817 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 273 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID TEK_Y897S(1); standard; MUTATION; PK Accession K00422 Systematic name g.55887A>C, c.2690A>C, r.2690a>c, p.Tyr897Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10369874 RefAuthors Calvert, J. T., Riney, T. J., Kontos, C. D., Cha, E. H., RefAuthors Prieto, V. G., Shea, C. R., Berg, J. N., Nevin, N. C., RefAuthors Simpson, S. A., Pasyk, K. A., Speer, M. C., Peters, K. G., RefAuthors Marchuk, D. A. RefTitle Allelic and locus heterogeneity in inherited venous RefTitle malformations. RefLoc Hum Mol Genet 8:1279-1289 (1999) RefNumber [2] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 RefNumber [3] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 DB CrossRef OMIM; 600221.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55887 Feature /change: a -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838 Feature /codon: tac -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 897 Feature /change: Y -> S Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Diagnosis Occurrence Families: 3; Patients: 8; Homozygotes: 0 // ID NTRK1_G516R(1); standard; MUTATION; PK Accession K00423 Systematic name g.16208G>A, c.1546G>A, r.1546g>a, p.Gly516Arg Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16208 Feature /change: g -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1666 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 516 Feature /change: G -> R Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: // ID NTRK1_R596X(1); standard; MUTATION; PK Accession K00424 Systematic name g.16637C>T, c.1786C>T, r.1786c>u, p.Arg596X Description A point mutation in the exon 13 leading to a premature stop Description codon in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16637 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1906 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 596 Feature /change: R -> X Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 2; Patients: 2; Homozygotes: // ID NTRK1_R648C(1); standard; MUTATION; PK Accession K00425 Systematic name g.19342C>T, c.1942C>T, r.1942c>u, p.Arg648Cys Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19342 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2062 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 648 Feature /change: R -> C Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 2; Patients: 2; Homozygotes: // ID NTRK1_D668Y(1); standard; MUTATION; PK Accession K00426 Systematic name g.19402G>T, c.2002G>T, r.2002g>u, p.Asp668Tyr Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19402 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2122 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 668 Feature /change: D -> Y Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 4; Patients: 4; Homozygotes: // ID NTRK1_@R771X860(1); standard; MUTATION; PK Accession K00427 Systematic name g.21645dupT, c.2310dupT, r.2310dupu, p.Arg771fsX89 Description A frame shift duplication mutation in the exon 16 leading Description to a premature stop codon in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: NTRK1_DNA: 21646 Feature /change: +t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2431 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 771 Feature /change: V -> Feature /change: CARPAASPGP GTSCLPGCPG LGGRPRGWEW LAGILGPALS Feature /change: IPHSSQQPQG DLEVSNSPSA CGKGQVGAGS RGCSCFSRQG Feature /change: PVIAIIFIIP Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: // ID NTRK1_R774P(1); standard; MUTATION; PK Accession K00428 Systematic name g.21656G>C, c.2321G>C, r.2321g>c, p.Arg774Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10090906 RefAuthors Greco, A., Villa, R., Tubino, B., Romano, L., Penso, D., RefAuthors Pierotti, M. A. RefTitle A novel NTRK1 mutation associated with congenital RefTitle insensitivity to pain with anhidrosis. RefLoc Am J Hum Genet 64:1207-1210 (1999) DB CrossRef OMIM; 191315.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 21656 Feature /change: g -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2441 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 774 Feature /change: R -> P Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 7; Homozygotes: 1 // ID NTRK1_P689L(1); standard; MUTATION; PK Accession K00429 Systematic name g.20102C>T, c.2066C>T, r.2066c>u, p.Pro689Leu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10861667 RefAuthors Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, RefAuthors E., Herzog, L., Shorer, Z., Luder, A., Parvari, R. RefTitle Congenital insensitivity to pain with anhidrosis (CIPA) in RefTitle israeli-bedouins: genetic heterogeneity, novel mutations RefTitle in the TRKA/NGF receptor gene, clinical findings, and RefTitle results of nerve conduction studies. RefLoc Am J Med Genet 92:353-360 (2000) DB CrossRef OMIM; 191315.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 20102 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2186 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 689 Feature /change: P -> L Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 3; Homozygotes: // ID NTRK1_@E615X626(1); standard; MUTATION; PK Accession K00430 Systematic name g.19242_19243insT, c.1842_1843insT, r.1842_1843insu, Systematic name p.Glu615fsX11 Description A frame shift insertion mutation in the exon 14 leading to Description a premature stop codon in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10861667 RefAuthors Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, RefAuthors E., Herzog, L., Shorer, Z., Luder, A., Parvari, R. RefTitle Congenital insensitivity to pain with anhidrosis (CIPA) in RefTitle israeli-bedouins: genetic heterogeneity, novel mutations RefTitle in the TRKA/NGF receptor gene, clinical findings, and RefTitle results of nerve conduction studies. RefLoc Am J Med Genet 92:353-360 (2000) DB CrossRef OMIM; 191315.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: NTRK1_DNA: 19243 Feature /change: +t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1963 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 615 Feature /change: P -> SPGSGAAAGR GX Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 10; Patients: 10; Homozygotes: 10 // ID IRAK4_Q293X(1); standard; MUTATION; PK Accession K00431 Systematic name g.21175C>T, c.877C>T, r.877c>u, p.Gln293X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 08-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 12637671 RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J., RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies, RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al- RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R., RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S., RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A., RefAuthors Ozinsky, A., Casanova, J. L. RefTitle Pyogenic bacterial infections in humans with IRAK-4 RefTitle deficiency. RefLoc Science 299:2076-2079 (2003) RefNumber [2] RefCrossRef PUBMED; 12925671 RefAuthors Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J. RefAuthors C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I., RefAuthors Vogel, S. N. RefTitle Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to RefTitle lipopolysaccharide and interleukin-1 in a patient with RefTitle recurrent bacterial infections. RefLoc J Exp Med 198:521-531 (2003) DB CrossRef IRAK4base; I0002 DB CrossRef IRAK4base; I0003 DB CrossRef OMIM; 606883.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AY186092: 21175 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 926 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: Q8TDF7: 293 Feature /change: Q -> X Feature /domain: PK Diagnosis IRAK4 deficiency Occurrence Families: 4; Patients: 4; Homozygotes: 2 // ID IRAK4_#L274X287(1); standard; MUTATION; PK Accession K00432 Systematic name g.20671delT, c.821delT, r.821delu, p.Leu274fsX13 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 08-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12637671 RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J., RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies, RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al- RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R., RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S., RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A., RefAuthors Ozinsky, A., Casanova, J. L. RefTitle Pyogenic bacterial infections in humans with IRAK-4 RefTitle deficiency. RefLoc Science 299:2076-2079 (2003) DB CrossRef IRAK4base; I0001 DB CrossRef OMIM; 606883.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: AY186092: 20671 Feature /change: -t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 870 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: Q8TDF7: 274 Feature /change: L -> PLAWMVLHHF LGTX Feature /domain: PK Diagnosis IRAK4 deficiency Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID IRAK4_#N207X219(1); standard; MUTATION; PK Accession K00433 Systematic name g.15978delA, c.620delA, r.620dela, p.Asn207fsX5 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 08-Oct-2003 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 12925671 RefAuthors Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J. RefAuthors C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I., RefAuthors Vogel, S. N. RefTitle Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to RefTitle lipopolysaccharide and interleukin-1 in a patient with RefTitle recurrent bacterial infections. RefLoc J Exp Med 198:521-531 (2003) RefNumber [2] RefCrossRef PUBMED; 9103466 RefAuthors Kuhns, D. B., Long Priel, D. A., Gallin, J. I. RefTitle Endotoxin and IL-1 hyporesponsiveness in a patient with RefTitle recurrent bacterial infections. RefLoc J Immunol 158:3959-3964 (1997) RefNumber [9] RefCrossRef PUBMED; 17893200 RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y., RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C., RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman, RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O., RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H., RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D., RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi, RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C., RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L. RefTitle Selective predisposition to bacterial infections in IRAK-4- RefTitle deficient children: IRAK-4-dependent TLRs are otherwise RefTitle redundant in protective immunity. RefLoc J Exp Med 204:2407-22 DB CrossRef IRAK4base; I0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: AY186092: 15978 Feature /change: -a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 669 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: Q8TDF7: 207 Feature /change: N -> TQLWQX Feature /domain: PK Diagnosis IRAK4 deficiency Diagnosis Occurrence Families: 8; Patients: 14; Homozygotes: 0 // ID RET_S767R(1); standard; MUTATION; PK Accession K00434 Systematic name g.42326T>G, c.2301T>G, r.2301u>g, p.Ser767Arg Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42326 Feature /change: t -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2496 Feature /codon: agt -> agg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 767 Feature /change: S -> R Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_R873Q(1); standard; MUTATION; PK Accession K00435 Systematic name g.44028G>A, c.2618G>A, r.2618g>a, p.Arg873Gln Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) RefNumber [2] RefCrossRef PUBMED; 11302967 RefAuthors Gath, R., Goessling, A., Keller, K. M., Koletzko, S., RefAuthors Coerdt, W., Muntefering, H., Wirth, S., Hofstra, R. M., RefAuthors Mulligan, L., Eng, C., von Deimling, A. RefTitle Analysis of the RET, GDNF, EDN3, and EDNRB genes in RefTitle patients with intestinal neuronal dysplasia and RefTitle hirschsprung disease. RefLoc Gut 48:671-675 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44028 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2813 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 873 Feature /change: R -> Q Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Hirschsprung disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RET_F893L(1); standard; MUTATION; PK Accession K00436 Systematic name g.44087T>C, c.2677T>C, r.2677u>c, p.Phe893Leu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44087 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2872 Feature /codon: ttc -> ctc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 893 Feature /change: F -> L Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_K907E(1); standard; MUTATION; PK Accession K00437 Systematic name g.44129A>G, c.2719A>G, r.2719a>g, p.Lys907Glu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44129 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2914 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 907 Feature /change: K -> E Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_M980T(1); standard; MUTATION; PK Accession K00438 Systematic name g.47745T>C, c.2939T>C, r.2939u>c, p.Met980Thr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47745 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3134 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 980 Feature /change: M -> T Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_E921K(1); standard; MUTATION; PK Accession K00439 Systematic name g.45913G>A, c.2761G>A, r.2761g>a, p.Glu921Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45913 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2956 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 921 Feature /change: E -> K Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_E734K(1); standard; MUTATION; PK Accession K00440 Systematic name g.40584G>A, c.2200G>A, r.2200g>a, p.Glu734Lys Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10946353 RefAuthors Inoue, K., Shimotake, T., Iwai, N. RefTitle Mutational analysis of RET/GDNF/NTN genes in children with RefTitle total colonic aganglionosis with small bowel involvement. RefLoc Am J Med Genet 93:278-284 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 40584 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2395 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 734 Feature /change: E -> K Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_W942C(1); standard; MUTATION; PK Accession K00441 Systematic name g.47632G>C, c.2826G>C, r.2826g>c, p.Trp942Cys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10946353 RefAuthors Inoue, K., Shimotake, T., Iwai, N. RefTitle Mutational analysis of RET/GDNF/NTN genes in children with RefTitle total colonic aganglionosis with small bowel involvement. RefLoc Am J Med Genet 93:278-284 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47632 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3021 Feature /codon: tgg -> tgc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 942 Feature /change: W -> C Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_R969W(1); standard; MUTATION; PK Accession K00442 Systematic name g.47711C>T, c.2905C>T, r.2905c>u, p.Arg969Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10946353 RefAuthors Inoue, K., Shimotake, T., Iwai, N. RefTitle Mutational analysis of RET/GDNF/NTN genes in children with RefTitle total colonic aganglionosis with small bowel involvement. RefLoc Am J Med Genet 93:278-284 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47711 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3100 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 969 Feature /change: R -> W Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 2; Patients: 2; Homozygotes: 1 // ID RET_E884D(1); standard; MUTATION; PK Accession K00443 Systematic name g.44062G>C, c.2652G>C, r.2652g>c, p.Glu884Asp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9094027 RefAuthors Shimotake, T., Iwai, N., Inoue, K., Kimura, T., Ichikawa, RefAuthors D., Abe, T., Inazawa, J. RefTitle Germline mutation of the RET proto-oncogene in children RefTitle with total intestinal aganglionosis. RefLoc J Pediatr Surg 32:498-500 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44062 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2847 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 884 Feature /change: E -> D Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_D771N(1); standard; MUTATION; PK Accession K00444 Systematic name g.42336G>A, c.2311G>A, r.2311g>a, p.Asp771Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11436122 RefAuthors Julies, M. G., Moore, S. W., Kotze, M. J., du Plessis, L. RefTitle Novel RET mutations in hirschsprung's disease patients RefTitle from the diverse south african population. RefLoc Eur J Hum Genet 9:419-423 (2001) RefNumber [6] RefCrossRef PUBMED; 17270543 RefAuthors Moore, S. W., Appfelstaedt, J., Zaahl, M. G. RefTitle Familial medullary carcinoma prevention, risk evaluation, RefTitle and RET in children of families with MEN2. RefLoc J Pediatr Surg 42:326-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42336 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2506 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 771 Feature /change: D -> N Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID RET_R813Q(1); standard; MUTATION; PK Accession K00445 Systematic name g.43513G>A, c.2438G>A, r.2438g>a, p.Arg813Gln Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 10-Oct-2003 (Rel. 2, Created) Date 10-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10090908 RefAuthors Auricchio, A., Griseri, P., Carpentieri, M. L., Betsos, RefAuthors N., Staiano, A., Tozzi, A., Priolo, M., Thompson, H., RefAuthors Bocciardi, R., Romeo, G., Ballabio, A., Ceccherini, I. RefTitle Double heterozygosity for a RET substitution interfering RefTitle with splicing and an EDNRB missense mutation in RefTitle hirschsprung disease. RefLoc Am J Hum Genet 64:1216-1221 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43513 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2633 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 813 Feature /change: R -> Q Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_S922F(1); standard; MUTATION; PK Accession K00446 Systematic name g.45917C>T, c.2765C>T, r.2765c>u, p.Ser922Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 10-Oct-2003 (Rel. 2, Created) Date 10-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11692159 RefAuthors Kalinin, V. N., Amosenko, F. A., Shabanov, M. A., RefAuthors Lubchenko, L. N., Hosch, S. B., Garkavtseva, R. F., RefAuthors Izbicki, J. R. RefTitle Three novel mutations in the RET proto-oncogene. RefLoc J Mol Med 79:609-612 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45917 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2960 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 922 Feature /change: S -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_W308C(1); standard; MUTATION; PK Accession K00447 Systematic name g.17075G>T, c.924G>T, r.924g>u, p.Trp308Cys Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [6] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 RefNumber [5] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17075 Feature /change: g -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1262 Feature /codon: tgg -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 308 Feature /change: W -> C Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 13; Patients: 20; Homozygotes: 0 // ID STK11_D176N(1); standard; MUTATION; PK Accession K00448 Systematic name g.14521G>A, c.526G>A, r.526g>a, p.Asp176Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 22-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14521 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 864 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 176 Feature /change: D -> N Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 5; Homozygotes: // ID STK11_@I192X265(1); standard; MUTATION; PK Accession K00449 Systematic name g.14569dupA, c.574dupA, r.574dupa, p.Ile192fsX73 Description A frame shift duplication mutation in the exon 4 leading to Description a premature stop codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) RefNumber [5] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 14570 Feature /change: +a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 913 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 192 Feature /change: I -> Feature /change: NLRPGRGRGT APVRGGRHLP DQPGLPGFPA ARDCQRPGHL Feature /change: LRLQGGHLVG WGHPLQHHHG SVPLRRGQHL QVVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_#R301X335(1); standard; MUTATION; PK Accession K00450 Systematic name g.16076delG, c.903delG, r.903delg, p.Gln302fsX33 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) RefNumber [5] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16076 Feature /change: -g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1241 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 301 Feature /change: R -> RRSGSTAGSG RNILRLKHQC PSHRAQTPRT GGAAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 9; Homozygotes: 0 // ID STK11_#D53X63(1); standard; MUTATION; PK Accession K00451 Systematic name g.1158delA, c.158delA, r.158dela, p.Asp53fsX10 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 22-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1158 Feature /change: -a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 496 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 53 Feature /change: D -> ACWGKALTAR X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_F157S(1); standard; MUTATION; PK Accession K00452 Systematic name g.14465T>C, c.470T>C, r.470u>c, p.Phe157Ser Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14465 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 808 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 157 Feature /change: F -> S Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Q152X(1); standard; MUTATION; PK Accession K00453 Systematic name g.13490C>T, c.454C>T, r.454c>u, p.Gln152X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 RefNumber [4] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 13490 Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 792 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 152 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID STK11_N181Y(1); standard; MUTATION; PK Accession K00454 Systematic name g.14536A>T, c.541A>T, r.541a>u, p.Asn181Tyr Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 22-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14536 Feature /change: a -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 879 Feature /codon: aac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 181 Feature /change: N -> Y Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_W308X(1); standard; MUTATION; PK Accession K00455 Systematic name g.17074G>A, c.923G>A, r.923g>a, p.Trp308X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [8] RefCrossRef PUBMED; 20497868 RefAuthors Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C. RefTitle Clinical and genetic analysis of Peutz-Jeghers syndrome RefTitle patients in Taiwan. RefLoc J Formos Med Assoc 109:354-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17074 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1261 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 308 Feature /change: W -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Q220X(1); standard; MUTATION; PK Accession K00456 Systematic name g.14728C>T, c.658C>T, r.658c>u, p.Gln220X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [2] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [4] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 RefNumber [11] RefCrossRef PUBMED; 20559149 RefAuthors Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., RefAuthors Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H. RefTitle Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung RefTitle adenocarcinomas. RefLoc J Thorac Oncol 5:1130-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14728 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 996 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 220 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID MET_Y1235D(1); standard; MUTATION; PK Accession K00457 Systematic name g.111970T>G, c.3703T>G, r.3703u>g, p.Tyr1235Asp Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10734314 RefAuthors Di Renzo, M. F., Olivero, M., Martone, T., Maffe, A., RefAuthors Maggiora, P., Stefani, A. D., Valente, G., Giordano, S., RefAuthors Cortesina, G., Comoglio, P. M. RefTitle Somatic mutations of the MET oncogene are selected during RefTitle metastatic spread of human HNSC carcinomas. RefLoc Oncogene 19:1547-1555 (2000) RefNumber [2] RefCrossRef PUBMED; 14627992 RefAuthors Aebersold, D. M., Landt, O., Berthou, S., Gruber, G., RefAuthors Beer, K. T., Greiner, R. H., Zimmer, Y. RefTitle Prevalence and clinical impact of met Y1253D-activating RefTitle point mutation in radiotherapy-treated squamous cell RefTitle cancer of the oropharynx. RefLoc Oncogene 22:8519-8523 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111970 Feature /change: t -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3897 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1235 Feature /change: Y -> D Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 18; Patients: 18; Homozygotes: 0 // ID MET_T1173I(1); standard; MUTATION; PK Accession K00458 Systematic name g.107549C>T, c.3518C>T, r.3518c>u, p.Thr1173Ile Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9927037 RefAuthors Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. RefAuthors S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, RefAuthors K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., RefAuthors Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y. RefTitle Somatic mutations in the kinase domain of the RefTitle met/hepatocyte growth factor receptor gene in childhood RefTitle hepatocellular carcinomas. RefLoc Cancer Res 59:307-310 (1999) DB CrossRef OMIM; 164860.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 107549 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3712 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1173 Feature /change: T -> I Feature /domain: PK Diagnosis Childhood hepatocellular carcinomas Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_M1250I(1); standard; MUTATION; PK Accession K00459 Systematic name g.112017G>A, c.3750G>A, r.3750g>a, p.Met1250Ile Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9927037 RefAuthors Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. RefAuthors S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, RefAuthors K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., RefAuthors Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y. RefTitle Somatic mutations in the kinase domain of the RefTitle met/hepatocyte growth factor receptor gene in childhood RefTitle hepatocellular carcinomas. RefLoc Cancer Res 59:307-310 (1999) DB CrossRef OMIM; 164860.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 112017 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3944 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1250 Feature /change: M -> I Feature /domain: PK Diagnosis Childhood hepatocellular carcinomas Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_K1244R(1); standard; MUTATION; PK Accession K00460 Systematic name g.111998A>G, c.3731A>G, r.3731a>g, p.Lys1244Arg Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9927037 RefAuthors Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. RefAuthors S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, RefAuthors K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., RefAuthors Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y. RefTitle Somatic mutations in the kinase domain of the RefTitle met/hepatocyte growth factor receptor gene in childhood RefTitle hepatocellular carcinomas. RefLoc Cancer Res 59:307-310 (1999) DB CrossRef OMIM; 164860.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111998 Feature /change: a -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3925 Feature /codon: aag -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1244 Feature /change: K -> R Feature /domain: PK Diagnosis Childhood hepatocellular carcinomas Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_H1094R(1); standard; MUTATION; PK Accession K00461 Systematic name g.106006A>G, c.3281A>G, r.3281a>g, p.His1094Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9563489 RefAuthors Schmidt, L., Junker, K., Weirich, G., Glenn, G., Choyke, RefAuthors P., Lubensky, I., Zhuang, Z., Jeffers, M., Vande Woude, RefAuthors G., Neumann, H., Walther, M., Linehan, W. M., Zbar, B. RefTitle Two north american families with hereditary papillary RefTitle renal carcinoma and identical novel mutations in the MET RefTitle proto-oncogene. RefLoc Cancer Res 58:1719-1722 (1998) DB CrossRef OMIM; 164860.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 106006 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3475 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1094 Feature /change: H -> R Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 2; Patients: 20; Homozygotes: // ID MET_H1094Y(1); standard; MUTATION; PK Accession K00462 Systematic name g.106005C>T, c.3280C>T, r.3280c>u, p.His1094Tyr Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 23-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10327054 RefAuthors Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., RefAuthors Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., RefAuthors Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, RefAuthors R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., RefAuthors Linehan, W. M., Zbar, B. RefTitle Novel mutations of the MET proto-oncogene in papillary RefTitle renal carcinomas. RefLoc Oncogene 18:2343-2350 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 106005 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3474 Feature /codon: cat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1094 Feature /change: H -> Y Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 2; Patients: 2; Homozygotes: // ID MET_H1106D(1); standard; MUTATION; PK Accession K00463 Systematic name g.106041C>G, c.3316C>G, r.3316c>g, p.His1106Asp Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 23-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10327054 RefAuthors Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., RefAuthors Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., RefAuthors Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, RefAuthors R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., RefAuthors Linehan, W. M., Zbar, B. RefTitle Novel mutations of the MET proto-oncogene in papillary RefTitle renal carcinomas. RefLoc Oncogene 18:2343-2350 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 106041 Feature /change: c -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3510 Feature /codon: cac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1106 Feature /change: H -> D Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_V1092I(1); standard; MUTATION; PK Accession K00464 Systematic name g.105999G>A, c.3274G>A, r.3274g>a, p.Val1092Ile Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 23-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10417759 RefAuthors Olivero, M., Valente, G., Bardelli, A., Longati, P., RefAuthors Ferrero, N., Cracco, C., Terrone, C., Rocca-Rossetti, S., RefAuthors Comoglio, P. M., Di Renzo, M. F. RefTitle Novel mutation in the ATP-binding site of the MET oncogene RefTitle tyrosine kinase in a HPRCC family. RefLoc Int J Cancer 82:640-643 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 105999 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3468 Feature /codon: gta -> ata; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1092 Feature /change: V -> I Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 3; Homozygotes: // ID KIT_E839K(1); standard; MUTATION; PK Accession K00465 Systematic name g.79513G>A, c.2515G>A, r.2515g>a, p.Glu839Lys Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 28-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9990072 RefAuthors Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., RefAuthors Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y. RefTitle Activating and dominant inactivating c-KIT catalytic RefTitle domain mutations in distinct clinical forms of human RefTitle mastocytosis. RefLoc Proc Natl Acad Sci U S A 96:1609-1614 (1999) DB CrossRef OMIM; 164920.0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79513 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2536 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 839 Feature /change: E -> K Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_A883F(1); standard; MUTATION; PK Accession K00466 Systematic name g.44057G>T, c.2647G>T, r.2647g>u, p.Ala883Ser Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Oct-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8729519 RefAuthors Marsh, D. J., Learoyd, D. L., Andrew, S. D., Krishnan, L., RefAuthors Pojer, R., Richardson, A. L., Delbridge, L., Eng, C., RefAuthors Robinson, B. G. RefTitle Somatic mutations in the RET proto-oncogene in sporadic RefTitle medullary thyroid carcinoma. RefLoc Clin Endocrinol (Oxf) 44:249-257 (1996) RefNumber [2] RefCrossRef PUBMED; 9360560 RefAuthors Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., RefAuthors Dahia, P. L., Mulligan, L. M., Zajac, J. D., Robinson, B. RefAuthors G., Eng, C. RefTitle Germline dinucleotide mutation in codon 883 of the RET RefTitle proto-oncogene in multiple endocrine neoplasia type 2B RefTitle without codon 918 mutation. RefLoc J Clin Endocrinol Metab 82:3902-3904 (1997) RefNumber [3] RefCrossRef PUBMED; 9294615 RefAuthors Smith, D. P., Houghton, C., Ponder, B. A. RefTitle Germline mutation of RET codon 883 in two cases of de novo RefTitle MEN 2B. RefLoc Oncogene 15:1213-1217 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44057 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2842 Feature /codon: gct -> tct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 883 Feature /change: A -> S Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 5; Patients: 7; Homozygotes: 0 // ID KIT_D816F(1); standard; MUTATION; PK Accession K00467 Systematic name g.76139G>T, c.2446G>T, r.2446g>u, p.Asp816Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 29-Oct-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9990072 RefAuthors Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., RefAuthors Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y. RefTitle Activating and dominant inactivating c-KIT catalytic RefTitle domain mutations in distinct clinical forms of human RefTitle mastocytosis. RefLoc Proc Natl Acad Sci U S A 96:1609-1614 (1999) RefNumber [2] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76139 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2467 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> Y Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID RHOK_T298M(1); standard; MUTATION; PK Accession K00468 Systematic name g.1001C>T, c.893C>T, r.893c>u, p.Thr298Met Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-Oct-2003 (Rel. 2, Created) Date 30-Oct-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1001 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1001 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 298 Feature /change: T -> M Feature /domain: PK Diagnosis Autosomal recessive retinis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: // ID RHOK_N330S(1); standard; MUTATION; PK Accession K00469 Systematic name g.1097A>G, c.989A>G, r.989a>g, p.Asn330Ser Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-Oct-2003 (Rel. 2, Created) Date 30-Oct-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1097 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1097 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 330 Feature /change: N -> S Feature /domain: PK Diagnosis Autosomal recessive retinis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: // ID RHOK_R438H(1); standard; MUTATION; PK Accession K00470 Systematic name g.1421G>A, c.1313G>A, r.1313g>a, p.Arg438His Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-Oct-2003 (Rel. 2, Created) Date 30-Oct-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1421 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1421 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 438 Feature /change: R -> H Feature /domain: PK Diagnosis Autosomal recessive retinis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: // ID CHEK2_E239X(1); standard; MUTATION; PK Accession K00471 Systematic name g.33724G>T, c.715G>T, r.715g>u, p.Glu239X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) DB CrossRef OMIM; 604373.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 33724 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 751 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CHK2_HUMAN: 239 Feature /change: E -> X Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_E239K(1); standard; MUTATION; PK Accession K00472 Systematic name g.33724G>A, c.715G>A, r.715g>a, p.Glu239Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) DB CrossRef OMIM; 604373.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 33724 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 751 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 239 Feature /change: E -> K Feature /domain: PK Diagnosis Prostate cancer Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID CHEK2_I251F(1); standard; MUTATION; PK Accession K00473 Systematic name g.33760A>T, c.751A>T, r.751a>u, p.Ile251Phe Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 33760 Feature /change: a -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 787 Feature /codon: atc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 251 Feature /change: I -> F Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_R318H(1); standard; MUTATION; PK Accession K00474 Systematic name g.45817G>A, c.953G>A, r.953g>a, p.Arg318His Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45817 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 989 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 318 Feature /change: R -> H Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_T323P(1); standard; MUTATION; PK Accession K00475 Systematic name g.45831A>C, c.967A>C, r.967a>c, p.Thr323Pro Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45831 Feature /change: a -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1003 Feature /codon: acc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 323 Feature /change: T -> P Feature /domain: PK Diagnosis Prostate cancer Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID CHEK2_Y327C(1); standard; MUTATION; PK Accession K00476 Systematic name g.45844A>G, c.980A>G, r.980a>g, p.Tyr327Cys Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45844 Feature /change: a -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1016 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 327 Feature /change: Y -> C Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_T476K(1); standard; MUTATION; PK Accession K00477 Systematic name g.51644C>A, c.1427C>A, r.1427c>a, p.Thr476Lys Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 51644 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1463 Feature /codon: acg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 476 Feature /change: T -> K Feature /domain: PK Diagnosis Prostate cancer Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR1_V607M(1); standard; MUTATION; PK Accession K00478 Systematic name g.53714G>A, c.1819G>A, r.1819g>a, p.Val607Met Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) DB CrossRef OMIM; 136350.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 53714 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2545 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 607 Feature /change: V -> M Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Diagnosis Occurrence Families: 2; Patients: 4; Homozygotes: 0 Comment -!-donor splice site mutation // ID FGFR1_R622X(1); standard; MUTATION; PK Accession K00479 Systematic name g.54727C>T, c.1864C>T, r.1864c>u, p.Arg622X Description A point mutation in the exon 14 leading to a premature stop Description codon in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) RefNumber [3] RefCrossRef PUBMED; 15613419 RefAuthors Pitteloud, N., Acierno, J. S., Meysing, A. U., Dwyer, A. RefAuthors A., Hayes, F. J., Crowley, W. F. RefTitle Reversible kallmann syndrome, delayed puberty, and RefTitle isolated anosmia occurring in a single family with a RefTitle mutation in the fibroblast growth factor receptor 1 gene. RefLoc J Clin Endocrinol Metab 90:1317-22 RefNumber [7] RefCrossRef PUBMED; 16764984 RefAuthors Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., RefAuthors Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, RefAuthors F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., RefAuthors Mohammadi, M., Crowley, W. F. RefTitle Mutations in fibroblast growth factor receptor 1 cause RefTitle Kallmann syndrome with a wide spectrum of reproductive RefTitle phenotypes. RefLoc Mol Cell Endocrinol 254-255:60-9 RefNumber [11] RefCrossRef PUBMED; 17200176 RefAuthors Xu, N., Qin, Y., Reindollar, R. H., Tho, S. P., McDonough, RefAuthors P. G., Layman, L. C. RefTitle A mutation in the fibroblast growth factor receptor 1 gene RefTitle causes fully penetrant normosmic isolated hypogonadotropic RefTitle hypogonadism. RefLoc J Clin Endocrinol Metab 92:1155-8 DB CrossRef OMIM; 136350.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 54727 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2590 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 622 Feature /change: R -> X Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 5; Patients: 17; Homozygotes: 0 Comment -!-Hypogonadotropic Hypogonadism // ID FGFR1_#T657X673(1); standard; MUTATION; PK Accession K00480 Systematic name g.54833delC, c.1970delC, r.1970delc, p.Thr657fsX7 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) DB CrossRef OMIM; 136350.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: FGFR1_DNA: 54833 Feature /change: -c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X66945; GI:120046; X66945: 2696 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 657 Feature /change: T -> KPTADCLX Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID FGFR1_W666R(1); standard; MUTATION; PK Accession K00481 Systematic name g.55008T>A, c.1996T>A, r.1996u>a, p.Trp666Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) DB CrossRef OMIM; 136350.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55008 Feature /change: t -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2722 Feature /codon: tgg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 666 Feature /change: W -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_M719R(2); standard; MUTATION; PK Accession K00484 Systematic name g.55437T>G, c.2156T>G, r.2156u>g, p.Met719Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55437 Feature /change: t -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2882 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 719 Feature /change: M -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_N822K(1); standard; MUTATION; PK Accession K00486 Systematic name g.76159T>A, c.2466T>A, r.2466u>a, p.Asn822Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) RefNumber [2] RefCrossRef PUBMED; 12824897 RefAuthors Kitamura, Y., Hirota, S., Nishida, T. RefTitle Gastrointestinal stromal tumors (GIST): a model for RefTitle molecule-based diagnosis and treatment of solid tumors. RefLoc Cancer Sci 94:315-320 (2003) RefNumber [3] RefCrossRef PUBMED; 11719439 RefAuthors Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. RefAuthors L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., RefAuthors Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, RefAuthors J. A. RefTitle KIT activation is a ubiquitous feature of gastrointestinal RefTitle stromal tumors. RefLoc Cancer Res 61:8118-8121 (2001) RefNumber [4] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) RefNumber [14] RefCrossRef PUBMED; 17504295 RefAuthors Steigen, S. E., Eide, T. J., Wasag, B., Lasota, J., RefAuthors Miettinen, M. RefTitle Mutations in gastrointestinal stromal tumors--a population- RefTitle based study from Northern Norway. RefLoc APMIS 115:289-98 RefNumber [16] RefCrossRef PUBMED; 17566038 RefAuthors Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, RefAuthors G., Frilling, A., Schmid, K. W. RefTitle Double resistance to imatinib and AMG 706 caused by RefTitle multiple acquired KIT exon 17 mutations in a RefTitle gastrointestinal stromal tumour. RefLoc Gut 56:1025-6 RefNumber [20] RefCrossRef PUBMED; 18246046 RefAuthors Lasota, J., Corless, C. L., Heinrich, M. C., Debiec- RefAuthors Rychter, M., Sciot, R., Wardelmann, E., Merkelbach-Bruse, RefAuthors S., Schildhaus, H. U., Steigen, S. E., Stachura, J., RefAuthors Wozniak, A., Antonescu, C., Daum, O., Martin, J., Del RefAuthors Muro, J. G., Miettinen, M. RefTitle Clinicopathologic profile of gastrointestinal stromal RefTitle tumors (GISTs) with primary KIT exon 13 or exon 17 RefTitle mutations: a multicenter study on 54 cases. RefLoc Mod Pathol 21:476-84 RefNumber [8] RefCrossRef PUBMED; 18724244 RefAuthors Thalheimer, A., Schlemmer, M., Bueter, M., Merkelbach- RefAuthors Bruse, S., Schildhaus, H. U., Buettner, R., Hartung, E., RefAuthors Thiede, A., Meyer, D., Fein, M., Maroske, J., Wardelmann, RefAuthors E. RefTitle Familial gastrointestinal stromal tumors caused by the RefTitle novel KIT exon 17 germline mutation N822Y. RefLoc Am J Surg Pathol 32:1560-1565 (2008) RefNumber [30] RefCrossRef PUBMED; 20471335 RefAuthors Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., RefAuthors Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P. RefTitle High frequency of concomitant mastocytosis in patients RefTitle with acute myeloid leukemia exhibiting the transforming RefTitle KIT mutation D816V. RefLoc Mol Oncol 4:335-46 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76159 Feature /change: t -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2487 Feature /codon: aat -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> K Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Piepaldism Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 7; Patients: 10; Homozygotes: 0 // ID KIT_Y823D(1); standard; MUTATION; PK Accession K00487 Systematic name g.76160T>G, c.2467T>G, r.2467u>g, p.Tyr823Asp Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76160 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2488 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 823 Feature /change: Y -> D Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_Y823C(1); standard; MUTATION; PK Accession K00488 Systematic name g.76161A>G, c.2468A>G, r.2468a>g, p.Tyr823Cys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76161 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2489 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 823 Feature /change: Y -> C Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_T801I(1); standard; MUTATION; PK Accession K00489 Systematic name g.76095C>T, c.2402C>T, r.2402c>u, p.Thr801Ile Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76095 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2423 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 801 Feature /change: T -> I Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_K642Q(1); standard; MUTATION; PK Accession K00490 Systematic name g.71040A>C, c.1924A>C, r.1924a>c, p.Lys642Gln Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12918066 RefAuthors Wardelmann, E., Losen, I., Hans, V., Neidt, I., Speidel, RefAuthors N., Bierhoff, E., Heinicke, T., Pietsch, T., Buttner, R., RefAuthors Merkelbach-Bruse, S. RefTitle Deletion of trp-557 and lys-558 in the juxtamembrane RefTitle domain of the c-kit protooncogene is associated with RefTitle metastatic behavior of gastrointestinal stromal tumors. RefLoc Int J Cancer 106:887-895 (2003) RefNumber [2] RefCrossRef PUBMED; 15010069 RefAuthors Debiec-Rychter, M., Dumez, H., Judson, I., Wasag, B., RefAuthors Verweij, J., Brown, M., Dimitrijevic, S., Sciot, R., Stul, RefAuthors M., Vranck, H., Scurr, M., Hagemeijer, A., Van Glabbeke, RefAuthors M., Van Oosterom, A. T. RefTitle Use of c-KIT/PDGFRA mutational analysis to predict the RefTitle clinical response to imatinib in patients with advanced RefTitle gastrointestinal stromal tumours entered on phase I and II RefTitle studies of the EORTC soft tissue and bone sarcoma group. RefLoc Eur J Cancer 40:689-695 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71040 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1945 Feature /codon: aaa -> caa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> Q Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_D820Y(1); standard; MUTATION; PK Accession K00491 Systematic name g.76151G>T, c.2458G>T, r.2458g>u, p.Asp820Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11984533 RefAuthors Hirota, S., Nishida, T., Isozaki, K., Taniguchi, M., RefAuthors Nishikawa, K., Ohashi, A., Takabayashi, A., Obayashi, T., RefAuthors Okuno, T., Kinoshita, K., Chen, H., Shinomura, Y., RefAuthors Kitamura, Y. RefTitle Familial gastrointestinal stromal tumors associated with RefTitle dysphagia and novel type germline mutation of KIT gene. RefLoc Gastroenterology 122:1493-1499 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76151 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2479 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 820 Feature /change: D -> Y Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: ?; Homozygotes: 0 // ID KIT_K642E(1); standard; MUTATION; PK Accession K00492 Systematic name g.71040A>G, c.1924A>G, r.1924a>g, p.Lys642Glu Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 12824897 RefAuthors Kitamura, Y., Hirota, S., Nishida, T. RefTitle Gastrointestinal stromal tumors (GIST): a model for RefTitle molecule-based diagnosis and treatment of solid tumors. RefLoc Cancer Sci 94:315-320 (2003) RefNumber [2] RefCrossRef PUBMED; 10702394 RefAuthors Lux, M. L., Rubin, B. P., Biase, T. L., Chen, C. J., RefAuthors Maclure, T., Demetri, G., Xiao, S., Singer, S., Fletcher, RefAuthors C. D., Fletcher, J. A. RefTitle KIT extracellular and kinase domain mutations in RefTitle gastrointestinal stromal tumors. RefLoc Am J Pathol 156:791-795 (2000) RefNumber [3] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) RefNumber [4] RefCrossRef PUBMED; 11021812 RefAuthors Lasota, J., Wozniak, A., Sarlomo-Rikala, M., Rys, J., RefAuthors Kordek, R., Nassar, A., Sobin, L. H., Miettinen, M. RefTitle Mutations in exons 9 and 13 of KIT gene are rare events in RefTitle gastrointestinal stromal tumors. A study of 200 cases. RefLoc Am J Pathol 157:1091-1095 (2000) RefNumber [10] RefCrossRef PUBMED; 15897563 RefAuthors Tarn, C., Merkel, E., Canutescu, A. A., Shen, W., RefAuthors Skorobogatko, Y., Heslin, M. J., Eisenberg, B., Birbe, R., RefAuthors Patchefsky, A., Dunbrack, R., Arnoletti, J. P., von RefAuthors Mehren, M., Godwin, A. K. RefTitle Analysis of KIT mutations in sporadic and familial RefTitle gastrointestinal stromal tumors: therapeutic implications RefTitle through protein modeling. RefLoc Clin Cancer Res 11:3668-77 RefNumber [15] RefCrossRef PUBMED; 17504295 RefAuthors Steigen, S. E., Eide, T. J., Wasag, B., Lasota, J., RefAuthors Miettinen, M. RefTitle Mutations in gastrointestinal stromal tumors--a population- RefTitle based study from Northern Norway. RefLoc APMIS 115:289-98 RefNumber [20] RefCrossRef PUBMED; 18246046 RefAuthors Lasota, J., Corless, C. L., Heinrich, M. C., Debiec- RefAuthors Rychter, M., Sciot, R., Wardelmann, E., Merkelbach-Bruse, RefAuthors S., Schildhaus, H. U., Steigen, S. E., Stachura, J., RefAuthors Wozniak, A., Antonescu, C., Daum, O., Martin, J., Del RefAuthors Muro, J. G., Miettinen, M. RefTitle Clinicopathologic profile of gastrointestinal stromal RefTitle tumors (GISTs) with primary KIT exon 13 or exon 17 RefTitle mutations: a multicenter study on 54 cases. RefLoc Mod Pathol 21:476-84 RefNumber [32] RefCrossRef PUBMED; 15543597 RefAuthors Vu, H. A., Xinh, P. T., Kikushima, M., Zhu, Y., Tokuhara, RefAuthors M., Tani, M., Shimizu, T., Saito, K., Tokunaga, K., Sato, RefAuthors Y. RefTitle A recurrent duodenal gastrointestinal stromal tumor with a RefTitle frameshift mutation resulting in a stop codon in KIT exon RefTitle 13. RefLoc Genes Chromosomes Cancer 42:179-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71040 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1945 Feature /codon: aaa -> gaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> E Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Piepaldism Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 9; Patients: 9; Homozygotes: 2 // ID KIT_N822H(1); standard; MUTATION; PK Accession K00493 Systematic name g.76157A>C, c.2464A>C, r.2464a>c, p.Asn822His Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 16-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12824897 RefAuthors Kitamura, Y., Hirota, S., Nishida, T. RefTitle Gastrointestinal stromal tumors (GIST): a model for RefTitle molecule-based diagnosis and treatment of solid tumors. RefLoc Cancer Sci 94:315-320 (2003) RefNumber [2] RefCrossRef PUBMED; 11719439 RefAuthors Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. RefAuthors L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., RefAuthors Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, RefAuthors J. A. RefTitle KIT activation is a ubiquitous feature of gastrointestinal RefTitle stromal tumors. RefLoc Cancer Res 61:8118-8121 (2001) RefNumber [3] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76157 Feature /change: a -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2485 Feature /codon: aat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> H Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_#S715-1(1); standard; MUTATION; PK Accession K00494 Systematic name g.74314delA, c.2143delA, r.2143dela, p.Ser715fsX9 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11786393 RefAuthors Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, RefAuthors G., Aman, P., Kindblom, L. G. RefTitle The complexity of KIT gene mutations and chromosome RefTitle rearrangements and their clinical correlation in RefTitle gastrointestinal stromal (pacemaker cell) tumors. RefLoc Am J Pathol 160:15-22 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 74314 Feature /change: -a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 2164 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 715 Feature /change: S -> AIVLMSTWTX Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID KIT_#Y703-2(1); standard; MUTATION; PK Accession K00495 Systematic name g.72437delA, c.2108delA, r.2108dela, p.Tyr703fsX21 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11786393 RefAuthors Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, RefAuthors G., Aman, P., Kindblom, L. G. RefTitle The complexity of KIT gene mutations and chromosome RefTitle rearrangements and their clinical correlation in RefTitle gastrointestinal stromal (pacemaker cell) tumors. RefLoc Am J Pathol 160:15-22 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 72437 Feature /change: -a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 2129 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 703 Feature /change: Y -> LRIFCIQRSL PAAIVLMSTW TX Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_R815K(1); standard; MUTATION; PK Accession K00496 Systematic name g.76137G>A, c.2444G>A, r.2444g>a, p.Arg815Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76137 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2465 Feature /codon: aga -> aaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 815 Feature /change: R -> K Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_K650T(1); standard; MUTATION; PK Accession K00497 Systematic name g.13268A>C, c.1949A>C, r.1949a>c, p.Lys650Thr Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 21-Jan-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 12743143 RefAuthors van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., RefAuthors Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., RefAuthors Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C. RefTitle Molecular grading of urothelial cell carcinoma with RefTitle fibroblast growth factor receptor 3 and MIB-1 is superior RefTitle to pathologic grade for the prediction of clinical RefTitle outcome. RefLoc J Clin Oncol 21:1912-1921 (2003) RefNumber [38] RefCrossRef PUBMED; 17585316 RefAuthors Hafner, C., Hartmann, A., van Oers, J. M., Stoehr, R., RefAuthors Zwarthoff, E. C., Hofstaedter, F., Landthaler, M., Vogt, RefAuthors T. RefTitle FGFR3 mutations in seborrheic keratoses are already RefTitle present in flat lesions and associated with age and RefTitle localization. RefLoc Mod Pathol 20:895-903 RefNumber [41] RefCrossRef PUBMED; 18583390 RefAuthors Castro-Feijoo, L., Loidi, L., Vidal, A., Parajes, S., RefAuthors Roson, E., Alvarez, A., Cabanas, P., Barreiro, J., Alonso, RefAuthors A., Dominguez, F., Pombo, M. RefTitle Hypochondroplasia and Acanthosis nigricans: a new syndrome RefTitle due to the p.Lys650Thr mutation in the fibroblast growth RefTitle factor receptor 3 gene? RefLoc Eur J Endocrinol 159:243-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13268 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1988 Feature /codon: aag -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> T Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Hypochondroplasia Occurrence Families: 4; Patients: 7; Homozygotes: 0 // ID FGFR2_N549H(1); standard; MUTATION; PK Accession K00498 Systematic name g.100882A>C, c.1645A>C, r.1645a>c, p.Asn549His Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 100882 Feature /change: a -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1824 Feature /codon: aat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 549 Feature /change: N -> H Feature /domain: PK Diagnosis Crouzon syndrome (CS) Diagnosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FGFR2_E565G(1); standard; MUTATION; PK Accession K00499 Systematic name g.102703A>G, c.1694A>G, r.1694a>g, p.Glu565Gly Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 102703 Feature /change: a -> g Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1873 Feature /codon: gag -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 565 Feature /change: E -> G Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID FGFR2_K641R(1); standard; MUTATION; PK Accession K00500 Systematic name g.111349A>G, c.1922A>G, r.1922a>g, p.Lys641Arg Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111349 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2101 Feature /codon: aaa -> aga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 641 Feature /change: K -> R Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FGFR2_K659N(1); standard; MUTATION; PK Accession K00501 Systematic name g.111404G>T, c.1977G>T, r.1977g>u, p.Lys659Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111404 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2156 Feature /codon: aag -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 659 Feature /change: K -> N Feature /domain: PK Diagnosis Syndromic craniosynostosis Diagnosis Crouzon syndrome (CS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR2_G663E(1); standard; MUTATION; PK Accession K00502 Systematic name g.111981G>A, c.1988G>A, r.1988g>a, p.Gly663Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111981 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2167 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 663 Feature /change: G -> E Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID FGFR2_R678G(1); standard; MUTATION; PK Accession K00503 Systematic name g.112025A>G, c.2032A>G, r.2032a>g, p.Arg678Gly Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 112025 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2211 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 678 Feature /change: R -> G Feature /domain: PK Diagnosis Crouzon syndrome (CS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_G1035V(1); standard; MUTATION; PK Accession K00504 Systematic name g.169455G>T, c.3104G>T, r.3104g>u, p.Gly1035Val Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 2544998 RefAuthors Odawara, M., Kadowaki, T., Yamamoto, R., Shibasaki, Y., RefAuthors Tobe, K., Accili, D., Bevins, C., Mikami, Y., Matsuura, RefAuthors N., Akanuma, Y. RefTitle Human diabetes associated with a mutation in the tyrosine RefTitle kinase domain of the insulin receptor. RefLoc Science 245:66-68 (1989) DB CrossRef OMIM; 147670.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169455 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3242 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1035 Feature /change: G -> V Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_A1055V(1); standard; MUTATION; PK Accession K00505 Systematic name g.169515C>T, c.3164C>T, r.3164c>u, p.Ala1055Val Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10733238 RefAuthors Rique, S., Nogues, C., Ibanez, L., Marcos, M. V., RefAuthors Ferragut, J., Carrascosa, A., Potau, N. RefTitle Identification of three novel mutations in the insulin RefTitle receptor gene in type A insulin resistant patients. RefLoc Clin Genet 57:67-69 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169515 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3302 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1055 Feature /change: A -> V Feature /domain: PK Diagnosis Insulin resistance, type A Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_R1119W(1); standard; MUTATION; PK Accession K00506 Systematic name g.171999C>T, c.3355C>T, r.3355c>u, p.Arg1119Trp Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9249867 RefAuthors Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., RefAuthors Pennerath, A., Conteville, P., Magre, J., Besmond, C., RefAuthors Goossens, M., Capeau, J., Amselem, S. RefTitle Molecular analysis of the insulin receptor gene for RefTitle prenatal diagnosis of leprechaunism in two families. RefLoc Prenat Diagn 17:657-663 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 171999 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3493 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1119 Feature /change: R -> W Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_I1143T(1); standard; MUTATION; PK Accession K00507 Systematic name g.172177T>C, c.3428T>C, r.3428u>c, p.Ile1143Thr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10443650 RefAuthors Longo, N., Wang, Y., Pasquali, M. RefTitle Progressive decline in insulin levels in rabson-mendenhall RefTitle syndrome. RefLoc J Clin Endocrinol Metab 84:2623-2629 (1999) RefNumber [2] RefCrossRef PUBMED; 12023989 RefAuthors Longo, N., Wang, Y., Smith, S. A., Langley, S. D., RefAuthors DiMeglio, L. A., Giannella-Neto, D. RefTitle Genotype-phenotype correlation in inherited severe insulin RefTitle resistance. RefLoc Hum Mol Genet 11:1465-1475 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172177 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3566 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1143 Feature /change: I -> T Feature /domain: PK Diagnosis Insulin resistance Diagnosis Leprechaunism Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_R1158W(1); standard; MUTATION; PK Accession K00508 Systematic name g.172221C>T, c.3472C>T, r.3472c>u, p.Arg1158Trp Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12023989 RefAuthors Longo, N., Wang, Y., Smith, S. A., Langley, S. D., RefAuthors DiMeglio, L. A., Giannella-Neto, D. RefTitle Genotype-phenotype correlation in inherited severe insulin RefTitle resistance. RefLoc Hum Mol Genet 11:1465-1475 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172221 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3610 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1158 Feature /change: R -> W Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_R1201W(1); standard; MUTATION; PK Accession K00509 Systematic name g.174214C>T, c.3601C>T, r.3601c>u, p.Arg1201Trp Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9703342 RefAuthors Whitehead, J. P., Soos, M. A., Jackson, R., Tasic, V., RefAuthors Kocova, M., O'Rahilly, S. RefTitle Multiple molecular mechanisms of insulin receptor RefTitle dysfunction in a patient with donohue syndrome. RefLoc Diabetes 47:1362-1364 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174214 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3739 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1201 Feature /change: R -> W Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_E1206K(1); standard; MUTATION; PK Accession K00510 Systematic name g.174229G>A, c.3616G>A, r.3616g>a, p.Glu1206Lys Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9249867 RefAuthors Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., RefAuthors Pennerath, A., Conteville, P., Magre, J., Besmond, C., RefAuthors Goossens, M., Capeau, J., Amselem, S. RefTitle Molecular analysis of the insulin receptor gene for RefTitle prenatal diagnosis of leprechaunism in two families. RefLoc Prenat Diagn 17:657-663 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174229 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3754 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1206 Feature /change: E -> K Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_R844L(1); standard; MUTATION; PK Accession K00511 Systematic name g.43606G>T, c.2531G>T, r.2531g>u, p.Arg844Leu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10826520 RefAuthors Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, RefAuthors M., Hoppner, W. RefTitle A RET double mutation in the germline of a kindred with RefTitle FMTC. RefLoc Exp Clin Endocrinol Diabetes 108:128-132 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43606 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2726 Feature /codon: cgg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 844 Feature /change: R -> L Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected together with V804M (K00030 mutation in Comment -!-KinMutBase) // ID RET_R982C(1); standard; MUTATION; PK Accession K00512 Systematic name g.48824C>T, c.2944C>T, r.2944c>u, p.Arg982Cys Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9760196 RefAuthors Svensson, P. J., Anvret, M., Molander, M. L., RefAuthors Nordenskjold, A. RefTitle Phenotypic variation in a family with mutations in two RefTitle hirschsprung-related genes (RET and endothelin receptor RefTitle B). RefLoc Hum Genet 103:145-148 (1998) RefNumber [2] RefCrossRef PUBMED; 10646792 RefAuthors Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, RefAuthors B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, RefAuthors D., Tam, P. K. RefTitle Incidence of RET mutations in patients with hirschsprung's RefTitle disease. RefLoc J Pediatr Surg 35:139-42; discussion 1421-3 (2000) RefNumber [5] RefCrossRef PUBMED; 16171945 RefAuthors Tengs, T., Lee, J. C., Paez, J. G., Zhao, X., LaFramboise, RefAuthors T., Giannoukos, G., Thomas, R. K. RefTitle A transforming MET mutation discovered in non-small cell RefTitle lung cancer using microarray-based resequencing. RefLoc Cancer Lett 239:227-33 DB CrossRef OMIM; 164761.0036 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 48824 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3139 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 982 Feature /change: R -> C Feature /domain: PK Diagnosis Hirschsprung disease Diagnosis Occurrence Families: 6; Patients: 8; Homozygotes: 0 Comment -!-Lung Cancer // ID RHOK_V380D(1); standard; MUTATION; PK Accession K00513 Systematic name g.1247T>A, c.1139T>A, r.1139u>a, p.Val380Asp Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 08-Jun-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9020843 RefAuthors Yamamoto, S., Sippel, K. C., Berson, E. L., Dryja, T. P. RefTitle Defects in the rhodopsin kinase gene in the oguchi form of RefTitle stationary night blindness. RefLoc Nat Genet 15:175-178 (1997) RefNumber [6] RefCrossRef PUBMED; 17070587 RefAuthors Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., RefAuthors Kitahara, K. RefTitle A novel homozygous GRK1 mutation (P391H) in 2 siblings RefTitle with Oguchi disease with markedly reduced cone responses. RefLoc Ophthalmology 114:134-41 DB CrossRef OMIM; 180381.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1247 Feature /change: t -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1247 Feature /codon: gtc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 380 Feature /change: V -> D Feature /domain: PK Diagnosis Oguchi disease Occurrence Families: 5; Patients: 6; Homozygotes: 0 // ID AMHR2_#L444-8(1); standard; MUTATION; PK Accession K00514 Systematic name g.7064delC, c.1330delC, r.1330delc, p.Leu444fsX36 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mullerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mullerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) DB CrossRef OMIM; 600956.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U29700: 7064 Feature /change: -c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1408 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: AMH2_HUMAN: 444 Feature /change: L -> WAIPLPLMSY GPWQCRRGGV PTSHPPGAAL PQTLMGX Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 11; Patients: 11; Homozygotes: 4 // ID AMHR2_H282Q(1); standard; MUTATION; PK Accession K00515 Systematic name g.2790T>G, c.846T>G, r.846u>g, p.His282Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 2790 Feature /change: t -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 924 Feature /codon: cat -> cag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 282 Feature /change: H -> Q Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K0514 24 bp inframe deletion in exon10 // ID AMHR2_D426G(1); standard; MUTATION; PK Accession K00516 Systematic name g.6844A>G, c.1277A>G, r.1277a>g, p.Asp426Gly Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 6844 Feature /change: a -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1355 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 426 Feature /change: D -> G Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID AMHR2_V458A(1); standard; MUTATION; PK Accession K00517 Systematic name g.7107T>C, c.1373T>C, r.1373u>c, p.Val458Ala Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 7107 Feature /change: t -> c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1451 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 458 Feature /change: V -> A Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K00514 mut. a 24 bp del in exon 10 // ID AMHR2_D491H(1); standard; MUTATION; PK Accession K00518 Systematic name g.8101G>C, c.1471G>C, r.1471g>c, p.Asp491His Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 8101 Feature /change: g -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1549 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 491 Feature /change: D -> H Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K00514 mut. a 24 bp del in exon 10 // ID AMHR2_R504C(1); standard; MUTATION; PK Accession K00519 Systematic name g.8140C>T, c.1510C>T, r.1510c>u, p.Arg504Cys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 8140 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1588 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 504 Feature /change: R -> C Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K00514 mut. a 24 bp del in exon 10 // ID AMHR2_R406Q(1); standard; MUTATION; PK Accession K00521 Systematic name g.6784G>A, c.1217G>A, r.1217g>a, p.Arg406Gln Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) DB CrossRef OMIM; 600956.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 6784 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1295 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 406 Feature /change: R -> Q Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BMPR2_R211X(1); standard; MUTATION; PK Accession K00522 Systematic name g.142357C>T, c.631C>T, r.631c>u, p.Arg211X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [2] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [7] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142357 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1012 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 211 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 5; Patients: 6; Homozygotes: 0 // ID BMPR2_#K230X254(1); standard; MUTATION; PK Accession K00523 Systematic name g.142415delA, c.689delA, r.689dela, p.Val231fsX20 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 142415 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1070 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 230 Feature /change: K -> KCFPLQTVRI LSTKRTFTEC LX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID BMPR2_E243X(1); standard; MUTATION; PK Accession K00524 Systematic name g.142453G>T, c.727G>T, r.727g>u, p.Glu243X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [9] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142453 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1108 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 243 Feature /change: E -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 4; Homozygotes: 0 // ID BMPR2_R332X(1); standard; MUTATION; PK Accession K00525 Systematic name g.154346C>T, c.994C>T, r.994c>u, p.Arg332X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [2] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [8] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [15] RefCrossRef PUBMED; 15965979 RefAuthors Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., RefAuthors Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., RefAuthors Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen- RefAuthors Sokolowski, A., Trembath, R. C., Laitinen, T. RefTitle BMPR2 mutations have short lifetime expectancy in primary RefTitle pulmonary hypertension. RefLoc Hum Mutat 26:119-24 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0017 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154346 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1375 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 332 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 6; Patients: 15; Homozygotes: 0 // ID BMPR2_#T359X374(1); standard; MUTATION; PK Accession K00526 Systematic name g.154428delC, c.1076delC, r.1076delc, p.Thr359fsX15 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154428 Feature /change: -c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1457 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 359 Feature /change: T -> MEIDWCAQGR KIMQPX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BMPR2_C397X(1); standard; MUTATION; PK Accession K00527 Systematic name g.156173delT, c.1191delT, r.1191delu, p.Cys397fsX4 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156173 Feature /change: -t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1572 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 397 Feature /change: C -> WNQLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BMPR2_C420R(1); standard; MUTATION; PK Accession K00528 Systematic name g.156240T>C, c.1258T>C, r.1258u>c, p.Cys420Arg Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156240 Feature /change: t -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1639 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 420 Feature /change: C -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID BMPR2_R491W(1); standard; MUTATION; PK Accession K00529 Systematic name g.176299C>T, c.1471C>T, r.1471c>u, p.Arg491Trp Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [5] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 RefNumber [7] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [6] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [6] RefCrossRef PUBMED; 14985116 RefAuthors Zhicheng, J., Lihe, L., Zhiyan, H., Xiansheng, C., Yubao, RefAuthors Z., Yuejin, Y., Rutai, H. RefTitle Bone morphogenetic protein receptor-II mutation Arg491Trp RefTitle causes malignant phenotype of familial primary pulmonary RefTitle hypertension. RefLoc Biochem Biophys Res Commun 315:1033-8 DB CrossRef OMIM; 600799.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176299 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1852 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 491 Feature /change: R -> W Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 11; Patients: 23; Homozygotes: 0 // ID BMPR2_#G367X369(1); standard; MUTATION; PK Accession K00530 Systematic name g.154451delG, c.1099delG, r.1099delg, p.Glu368fsX6 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154451 Feature /change: -g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1480 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 367 Feature /change: G -> GRKIMQPX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 4; Homozygotes: 0 // ID BMPR2_R491Q(1); standard; MUTATION; PK Accession K00531 Systematic name g.176300G>A, c.1472G>A, r.1472g>a, p.Arg491Gln Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [14] RefCrossRef PUBMED; 15965979 RefAuthors Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., RefAuthors Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., RefAuthors Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen- RefAuthors Sokolowski, A., Trembath, R. C., Laitinen, T. RefTitle BMPR2 mutations have short lifetime expectancy in primary RefTitle pulmonary hypertension. RefLoc Hum Mutat 26:119-24 RefNumber [3] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [8] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [7] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 DB CrossRef OMIM; 600799.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176300 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1853 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 491 Feature /change: R -> Q Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID BMPR2_#K230X251(1); standard; MUTATION; PK Accession K00532 Systematic name g.142416A>T, c.690A>T, r.690a>u, p.Lys230Asn Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [17] RefCrossRef PUBMED; 18503968 RefAuthors Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. RefAuthors K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, RefAuthors N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J. RefTitle Clinical implications of determining BMPR2 mutation status RefTitle in a large cohort of children and adults with pulmonary RefTitle arterial hypertension. RefLoc J Heart Lung Transplant 27:668-74 RefNumber [3] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [5] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0014 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142416 Feature /change: a -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1071 Feature /codon: aaa -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 230 Feature /change: K -> N Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 4; Patients: 5; Homozygotes: 0 // ID BMPR2_D485G(1); standard; MUTATION; PK Accession K00533 Systematic name g.176282A>G, c.1454A>G, r.1454a>g, p.Asp485Gly Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10973254 RefAuthors Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. RefAuthors R., Phillips, J. A., Loyd, J. E., Nichols, W. C., RefAuthors Trembath, R. C. RefTitle Heterozygous germline mutations in BMPR2, encoding a TGF- RefTitle beta receptor, cause familial primary pulmonary RefTitle hypertension. the international PPH consortium. RefLoc Nat Genet 26:81-84 (2000) RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176282 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1835 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 485 Feature /change: D -> G Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID BMPR2_C347Y(1); standard; MUTATION; PK Accession K00534 Systematic name g.154392G>A, c.1040G>A, r.1040g>a, p.Cys347Tyr Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10973254 RefAuthors Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. RefAuthors R., Phillips, J. A., Loyd, J. E., Nichols, W. C., RefAuthors Trembath, R. C. RefTitle Heterozygous germline mutations in BMPR2, encoding a TGF- RefTitle beta receptor, cause familial primary pulmonary RefTitle hypertension. the international PPH consortium. RefLoc Nat Genet 26:81-84 (2000) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154392 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1421 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 347 Feature /change: C -> Y Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BMPR2_@G263X265(1); standard; MUTATION; PK Accession K00535 Systematic name g.142512dupT, c.786dupT, r.786dupu, p.Gly263fsX2 Description A frame shift duplication mutation in the exon 6 leading to Description a premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 142513 Feature /change: +t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1168 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 263 Feature /change: G -> WRX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#I416X418(1); standard; MUTATION; PK Accession K00536 Systematic name g.156230delA, c.1248delA, r.1248dela, p.Phe417fsX1 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [12] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156230 Feature /change: -a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1629 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 416 Feature /change: I -> ILX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BMPR2_@I416X419(1); standard; MUTATION; PK Accession K00537 Systematic name g.156228_156229insG, c.1246_1247insG, r.1246_1247insg, Systematic name p.Ile416fsX31 Description A frame shift insertion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: BMPR2_DNA: 156229 Feature /change: +g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1628 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 416 Feature /change: I -> SIYEMYRPLP RGIRTRVPDG FSDRGWKPSH FX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_C483R(1); standard; MUTATION; PK Accession K00538 Systematic name g.176275T>C, c.1447T>C, r.1447u>c, p.Cys483Arg Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176275 Feature /change: t -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1828 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 483 Feature /change: C -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_R273X(1); standard; MUTATION; PK Accession K00539 Systematic name g.161628C>T, c.817C>T, r.817c>u, p.Arg273X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161628 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1126 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 273 Feature /change: R -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_R361X(1); standard; MUTATION; PK Accession K00540 Systematic name g.163737C>T, c.1081C>T, r.1081c>u, p.Arg361X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163737 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1390 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 361 Feature /change: R -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_A338D(1); standard; MUTATION; PK Accession K00541 Systematic name g.163669C>A, c.1013C>A, r.1013c>a, p.Ala338Asp Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) DB CrossRef OMIM; 601299.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163669 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1322 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 338 Feature /change: A -> D Feature /domain: PK Diagnosis Cowden-like syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_C376Y(1); standard; MUTATION; PK Accession K00542 Systematic name g.163783G>A, c.1127G>A, r.1127g>a, p.Cys376Tyr Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) DB CrossRef OMIM; 601299.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163783 Feature /change: g -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1436 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 376 Feature /change: C -> Y Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_Q239X(1); standard; MUTATION; PK Accession K00543 Systematic name g.161526C>T, c.715C>T, r.715c>u, p.Gln239X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11381269 RefAuthors Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., RefAuthors Mitros, F. A., Petersen, G. M., Velculescu, V. E., RefAuthors Traverso, G., Vogelstein, B. RefTitle Germline mutations of the gene encoding bone morphogenetic RefTitle protein receptor 1A in juvenile polyposis. RefLoc Nat Genet 28:184-187 (2001) DB CrossRef OMIM; 601299.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161526 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1024 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 239 Feature /change: Q -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 8; Homozygotes: 0 // ID BMPR1A_W271X(1); standard; MUTATION; PK Accession K00544 Systematic name g.161623G>A, c.812G>A, r.812g>a, p.Trp271X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11381269 RefAuthors Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., RefAuthors Mitros, F. A., Petersen, G. M., Velculescu, V. E., RefAuthors Traverso, G., Vogelstein, B. RefTitle Germline mutations of the gene encoding bone morphogenetic RefTitle protein receptor 1A in juvenile polyposis. RefLoc Nat Genet 28:184-187 (2001) DB CrossRef OMIM; 601299.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161623 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1121 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 271 Feature /change: W -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 6; Homozygotes: 0 // ID BMPR1A_L321X(1); standard; MUTATION; PK Accession K00545 Systematic name g.163617delC, c.961delC, r.961delc, p.Leu321X Description A deletion mutation in the exon 10 leading to a premature Description stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11381269 RefAuthors Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., RefAuthors Mitros, F. A., Petersen, G. M., Velculescu, V. E., RefAuthors Traverso, G., Vogelstein, B. RefTitle Germline mutations of the gene encoding bone morphogenetic RefTitle protein receptor 1A in juvenile polyposis. RefLoc Nat Genet 28:184-187 (2001) DB CrossRef OMIM; 601299.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 163617 Feature /change: -c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1270 Feature /codon: ctg -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 321 Feature /change: L -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 5; Homozygotes: 0 // ID BMPR1A_#V262X275(1); standard; MUTATION; PK Accession K00546 Systematic name g.161595delG, c.784delG, r.784delg, p.Val262fsX20 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 161595 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1093 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 262 Feature /change: V -> YSLPLKKPAG FEKQKSTKLC X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#E276X285(1); standard; MUTATION; PK Accession K00547 Systematic name g.161637delG, c.826delG, r.826delg, p.Glu276fsX6 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 161637 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1135 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 276 Feature /change: E -> KSTKLCX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_E768D(2); standard; MUTATION; PK Accession K00548 Systematic name g.42329G>T, c.2304G>T, r.2304g>u, p.Glu768Asp Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () DB CrossRef OMIM; 164761.0027 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42329 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2499 Feature /codon: gag -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 768 Feature /change: E -> D Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_V804L(2); standard; MUTATION; PK Accession K00549 Systematic name g.43485G>C, c.2410G>C, r.2410g>c, p.Val804Leu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43485 Feature /change: g -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605 Feature /codon: gtg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 804 Feature /change: V -> L Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S795R(1); standard; MUTATION; PK Accession K00550 Systematic name g.42410C>A, c.2385C>A, r.2385c>a, p.Ser795Arg Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 02-Feb-2004 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10646792 RefAuthors Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, RefAuthors B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, RefAuthors D., Tam, P. K. RefTitle Incidence of RET mutations in patients with hirschsprung's RefTitle disease. RefLoc J Pediatr Surg 35:139-42; discussion 1421-3 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42410 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2580 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 795 Feature /change: S -> R Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S922P(1); standard; MUTATION; PK Accession K00551 Systematic name g.45916T>C, c.2764T>C, r.2764u>c, p.Ser922Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Feb-2004 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14618242 RefAuthors Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., RefAuthors Bendlova, B. RefTitle The newly detected mutations in the RET proto-oncogene in RefTitle exon 16 as a cause of sporadic medullary thyroid RefTitle carcinoma. RefLoc J Mol Med 81:819-823 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45916 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2959 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 922 Feature /change: S -> P Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 1 Comment -!-Loss of heterozygosity detected // ID RET_T930M(1); standard; MUTATION; PK Accession K00552 Systematic name g.45941C>T, c.2789C>T, r.2789c>u, p.Thr930Met Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Feb-2004 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14618242 RefAuthors Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., RefAuthors Bendlova, B. RefTitle The newly detected mutations in the RET proto-oncogene in RefTitle exon 16 as a cause of sporadic medullary thyroid RefTitle carcinoma. RefLoc J Mol Med 81:819-823 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45941 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2984 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 930 Feature /change: T -> M Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_G849S(1); standard; MUTATION; PK Accession K00553 Systematic name g.43620G>A, c.2545G>A, r.2545g>a, p.Gly849Ser Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12632375 RefAuthors Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., RefAuthors Hollwarth, M. E., Green, A., Puri, P. RefTitle Mutation analysis of the RET gene in total intestinal RefTitle aganglionosis by wave DNA fragment analysis system. RefLoc J Pediatr Surg 38:497-501 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43620 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2740 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 849 Feature /change: G -> S Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected together with G667S, L746L, S880S // ID RET_R873X(1); standard; MUTATION; PK Accession K00554 Systematic name g.44027C>T, c.2617C>T, r.2617c>u, p.Arg873Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12632375 RefAuthors Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., RefAuthors Hollwarth, M. E., Green, A., Puri, P. RefTitle Mutation analysis of the RET gene in total intestinal RefTitle aganglionosis by wave DNA fragment analysis system. RefLoc J Pediatr Surg 38:497-501 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44027 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2812 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 873 Feature /change: R -> W Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected together with G667S // ID RET_P841L(1); standard; MUTATION; PK Accession K00555 Systematic name g.43597C>T, c.2522C>T, r.2522c>u, p.Pro841Leu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12566528 RefAuthors Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., RefAuthors Roesner, D., Schackert, H. K. RefTitle Association of germline mutations and polymorphisms of the RefTitle RET proto-oncogene with idiopathic congenital central RefTitle hypoventilation syndrome in 33 patients. RefLoc J Med Genet 40:E10 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43597 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2717 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 841 Feature /change: P -> L Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The patients was affected in congenital central Comment -!-hypoventilation syndrome (CCHS) too // ID STK11_I177N(1); standard; MUTATION; PK Accession K00556 Systematic name g.14525T>A, c.530T>A, r.530u>a, p.Ile177Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12112668 RefAuthors Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., RefAuthors Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., RefAuthors Piepoli, A., Grammatico, P., Guanti, G. RefTitle Two novel mutations and a new STK11/LKB1 gene isoform in RefTitle peutz-jeghers patients. RefLoc Hum Mutat 20:78-79 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14525 Feature /change: t -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 868 Feature /codon: atc -> aac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 177 Feature /change: I -> N Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_R304W(1); standard; MUTATION; PK Accession K00557 Systematic name g.16083C>T, c.910C>T, r.910c>u, p.Arg304Trp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 12112668 RefAuthors Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., RefAuthors Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., RefAuthors Piepoli, A., Grammatico, P., Guanti, G. RefTitle Two novel mutations and a new STK11/LKB1 gene isoform in RefTitle peutz-jeghers patients. RefLoc Hum Mutat 20:78-79 (2002) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [7] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 RefNumber [6] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 RefNumber [6] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 16083 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1248 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 304 Feature /change: R -> W Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 7; Patients: 10; Homozygotes: 0 // ID STK11_L160P(1); standard; MUTATION; PK Accession K00558 Systematic name g.14474T>C, c.479T>C, r.479u>c, p.Leu160Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12533684 RefAuthors Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., RefAuthors Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., RefAuthors Konishi, I., Fujii, S. RefTitle Mutations in the STK11 gene characterize minimal deviation RefTitle adenocarcinoma of the uterine cervix. RefLoc Lab Invest 83:35-45 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14474 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 817 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 160 Feature /change: L -> P Feature /domain: PK Diagnosis Minimal deviation adenocarcinoma (MDA) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_F231L(1); standard; MUTATION; PK Accession K00559 Systematic name g.14761T>C, c.691T>C, r.691u>c, p.Phe231Leu Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12533684 RefAuthors Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., RefAuthors Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., RefAuthors Konishi, I., Fujii, S. RefTitle Mutations in the STK11 gene characterize minimal deviation RefTitle adenocarcinoma of the uterine cervix. RefLoc Lab Invest 83:35-45 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14761 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1029 Feature /codon: ttc -> ctc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 231 Feature /change: F -> L Feature /domain: PK Diagnosis Minimal deviation adenocarcinoma (MDA) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_V66M(1); standard; MUTATION; PK Accession K00560 Systematic name g.1196G>A, c.196G>A, r.196g>a, p.Val66Met Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12533684 RefAuthors Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., RefAuthors Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., RefAuthors Konishi, I., Fujii, S. RefTitle Mutations in the STK11 gene characterize minimal deviation RefTitle adenocarcinoma of the uterine cervix. RefLoc Lab Invest 83:35-45 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1196 Feature /change: g -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 534 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 66 Feature /change: V -> M Feature /domain: PK Diagnosis Minimal deviation adenocarcinoma (MDA) Diagnosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TGFBR2_V250A(1); standard; MUTATION; PK Accession K00561 Systematic name g.66055T>C, c.749T>C, r.749u>c, p.Val250Ala Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66055 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2321 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 250 Feature /change: V -> A Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_Y448C(1); standard; MUTATION; PK Accession K00562 Systematic name g.68316A>G, c.1343A>G, r.1343a>g, p.Tyr448Cys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68316 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2915 Feature /codon: tac -> tgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 448 Feature /change: Y -> C Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_K488E(1); standard; MUTATION; PK Accession K00563 Systematic name g.82572A>G, c.1462A>G, r.1462a>g, p.Lys488Glu Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82572 Feature /change: a -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3034 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 488 Feature /change: K -> E Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_M373I(1); standard; MUTATION; PK Accession K00564 Systematic name g.66425G>T, c.1119G>T, r.1119g>u, p.Met373Ile Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66425 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2691 Feature /codon: atg -> att; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 373 Feature /change: M -> I Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_S401F(1); standard; MUTATION; PK Accession K00565 Systematic name g.66508C>T, c.1202C>T, r.1202c>u, p.Ser401Phe Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66508 Feature /change: c -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2774 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 401 Feature /change: S -> F Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PAK3_A365E(1); standard; MUTATION; PK Accession K00566 Systematic name g.72299C>A, c.1094C>A, r.1094c>a, p.Ala365Glu Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12884430 RefAuthors Gedeon, A. K., Nelson, J., Gecz, J., Mulley, J. C. RefTitle X-linked mild non-syndromic mental retardation with RefTitle neuropsychiatric problems and the missense mutation A365E RefTitle in PAK3. RefLoc Am J Med Genet 120A:509-517 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PAK3_DNA: 72299 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF068864; GI:6174887; AF068864: 1094 Feature /codon: gca -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PAK3_HUMAN: 365 Feature /change: A -> E Feature /domain: PK Diagnosis X-linked nonsyndromic mental retardation (MRX) Diagnosis X-linked nonsyndromic mental retardation (MRX) Occurrence Families: 2; Patients: 38; Homozygotes: 0 // ID FLT3_D835Y(1); standard; MUTATION; PK Accession K00567 Systematic name g.53109G>T, c.2503G>T, r.2503g>u, p.Asp835Tyr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) RefNumber [2] RefCrossRef PUBMED; 12239147 RefAuthors Kottaridis, P. D., Gale, R. E., Langabeer, S. E., Fr