ID TGFBR2_R537P(1); standard; MUTATION; PK Accession K00001 Systematic name g.85628G>C, c.1610G>C, r.1610g>c, p.Arg537Pro Original code K331 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7664267 RefAuthors Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., RefAuthors Gesmonde, J., Vellucci, V. F., Reiss, M. RefTitle Missense mutations of the transforming growth factor beta RefTitle type II receptor in human head and neck squamous carcinoma RefTitle cells. RefLoc Cancer Res 55:3982-3987 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85628 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3182 Feature /codon: cgc -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 537 Feature /change: R -> P Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_E526Q(1); standard; MUTATION; PK Accession K00002 Systematic name g.85594G>C, c.1576G>C, r.1576g>c, p.Glu526Gln Original code K332 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7664267 RefAuthors Garrigue-Antar, L., Munoz-Antonia, T., Antonia, S. J., RefAuthors Gesmonde, J., Vellucci, V. F., Reiss, M. RefTitle Missense mutations of the transforming growth factor beta RefTitle type II receptor in human head and neck squamous carcinoma RefTitle cells. RefLoc Cancer Res 55:3982-3987 (1995) DB CrossRef OMIM; 190182.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85594 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3148 Feature /codon: gag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 526 Feature /change: E -> Q Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_T458A(1); standard; MUTATION; PK Accession K00003 Systematic name g.68345A>G, c.1372A>G, r.1372a>g, p.Thr458Ala Original code K61 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9589477 RefAuthors Yasumi, K., Guo, R. J., Hanai, H., Arai, H., Kaneko, E., RefAuthors Konno, H., Takenoshita, S., Hagiwara, K., Sugimura, H. RefTitle Transforming growth factor beta type II receptor (TGF beta RefTitle RII) mutation in gastric lymphoma without mutator RefTitle phenotype. RefLoc Pathol Int 48:134-137 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68345 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2944 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 458 Feature /change: T -> A Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_T315M(1); standard; MUTATION; PK Accession K00004 Systematic name g.66250C>T, c.944C>T, r.944c>u, p.Thr315Met Original code K63 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9590282 RefAuthors Lu, S. L., Kawabata, M., Imamura, T., Akiyama, Y., Nomizu, RefAuthors T., Miyazono, K., Yuasa, Y. RefTitle HNPCC associated with germline mutation in the TGF-beta RefTitle type II receptor gene. RefLoc Nat Genet 19:17-18 (1998) RefNumber [6] RefCrossRef PUBMED; 16283890 RefAuthors Ki, C. S., Jin, D. K., Chang, S. H., Kim, J. E., Kim, J. RefAuthors W., Park, B. K., Choi, J. H., Park, I. S., Yoo, H. W. RefTitle Identification of a novel TGFBR2 gene mutation in a Korean RefTitle patient with Loeys-Dietz aortic aneurysm syndrome; no RefTitle mutation in TGFBR2 gene in 30 patients with classic RefTitle Marfan's syndrome. RefLoc Clin Genet 68:561-3 DB CrossRef OMIM; 190182.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66250 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2516 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 315 Feature /change: T -> M Feature /domain: PK Diagnosis Hereditary nonpolyposis colorectal cancer Diagnosis Loeys-Dietz syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TGFBR2_D405G(1); standard; MUTATION; PK Accession K00005 Systematic name g.66520A>G, c.1214A>G, r.1214a>g, p.Asp405Gly Original code K62 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8668164 RefAuthors Knaus, P. I., Lindemann, D., DeCoteau, J. F., Perlman, R., RefAuthors Yankelev, H., Hille, M., Kadin, M. E., Lodish, H. F. RefTitle A dominant inhibitory mutant of the type II transforming RefTitle growth factor beta receptor in the malignant progression RefTitle of a cutaneous T-cell lymphoma. RefLoc Mol Cell Biol 16:3480-3489 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66520 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2786 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 405 Feature /change: D -> G Feature /domain: PK Diagnosis Cutaneous T-cell lymphoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_S227A(1); standard; MUTATION; PK1 Accession K00006 Systematic name g.80178T>G, c.679T>G, r.679u>g, p.Ser227Ala Original code K318 Description A point mutation in the exon 9 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) DB CrossRef OMIM; 300075.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80178 Feature /change: t -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 679 Feature /codon: tct -> gct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 227 Feature /change: S -> A Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_G75V(1); standard; MUTATION; PK1 Accession K00007 Systematic name g.58794G>T, c.224G>T, r.224g>u, p.Gly75Val Original code K317 Description A point mutation in the exon 3 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) RefNumber [9] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with Coffin-Lowry syndrome. RefLoc Hum Mutat 17:103-16 DB CrossRef OMIM; 300075.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58794 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 224 Feature /codon: ggg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 75 Feature /change: G -> V Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_W645X(1); standard; MUTATION; PK2 Accession K00008 Systematic name g.106432G>A, c.1934G>A, r.1934g>a, p.Trp645X Original code K307 Description A point mutation in the exon 20 leading to a premature stop Description codon in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 106432 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1934 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 645 Feature /change: W -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_V82F(1); standard; MUTATION; PK1 Accession K00009 Systematic name g.63998G>T, c.244G>T, r.244g>u, p.Val82Phe Original code K294 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) DB CrossRef OMIM; 300075.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 63998 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 244 Feature /codon: gtt -> ttt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 82 Feature /change: V -> F Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R558X(1); standard; MUTATION; PK2 Accession K00010 Systematic name g.103110C>T, c.1672C>T, r.1672c>u, p.Arg558X Original code K306 Description A point mutation in the exon 18 leading to a premature stop Description codon in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) RefNumber [2] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103110 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1672 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 558 Feature /change: R -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RPS6KA3_R514X(1); standard; MUTATION; PK2 Accession K00011 Systematic name g.100450C>T, c.1540C>T, r.1540c>u, p.Arg514X Original code K305 Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100450 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1540 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 514 Feature /change: R -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R305X(1); standard; MUTATION; PK1 Accession K00012 Systematic name g.91084C>T, c.913C>T, r.913c>u, p.Arg305X Original code K303 Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91084 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 913 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 305 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R273X(1); standard; MUTATION; PK1 Accession K00013 Systematic name g.81777C>T, c.817C>T, r.817c>u, p.Arg273X Original code K302 Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81777 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 817 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 273 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R112X(1); standard; MUTATION; PK1 Accession K00014 Systematic name g.72964C>T, c.334C>T, r.334c>u, p.Arg112X Original code K299 Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72964 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 334 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 112 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R110X(1); standard; MUTATION; PK1 Accession K00015 Systematic name g.72958C>T, c.328C>T, r.328c>u, p.Arg110X Original code K298 Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72958 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 328 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 110 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#M99X102(1); standard; MUTATION; PK1 Accession K00016 Systematic name g.64050delT, c.296delT, r.296delu, p.Met99fsX3 Original code K295 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64050 Feature /change: -t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 296 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 99 Feature /change: M -> RRYX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#I88X99(1); standard; MUTATION; PK1 Accession K00017 Systematic name g.64016delA, c.262delA, r.262dela, p.Ile88fsX11 Original code K296 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64016 Feature /change: -a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 262 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 88 Feature /change: I -> SQALMLGSFM PX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_H127Q(1); standard; MUTATION; PK1 Accession K00018 Systematic name g.73011T>G, c.381T>G, r.381u>g, p.His127Gln Original code K297 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73011 Feature /change: t -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 381 Feature /codon: cat -> cag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 127 Feature /change: H -> Q Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_G431D(1); standard; MUTATION; PK2 Accession K00019 Systematic name g.95294G>A, c.1292G>A, r.1292g>a, p.Gly431Asp Original code K304 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK2 domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95294 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1292 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 431 Feature /change: G -> D Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_D154Y(1); standard; MUTATION; PK1 Accession K00020 Systematic name g.73886G>T, c.460G>T, r.460g>u, p.Asp154Tyr Original code K300 Description A point mutation in the exon 6 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73886 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 460 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 154 Feature /change: D -> Y Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_A225V(1); standard; MUTATION; PK1 Accession K00021 Systematic name g.80173C>T, c.674C>T, r.674c>u, p.Ala225Val Original code K301 Description A point mutation in the exon 9 leading to an amino acid Description change in the PK1 domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80173 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 674 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 225 Feature /change: A -> V Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_Y806C(1); standard; MUTATION; PK Accession K00022 Systematic name g.43492A>G, c.2417A>G, r.2417a>g, p.Tyr806Cys Original code K310 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10076558 RefAuthors Miyauchi, A., Futami, H., Hai, N., Yokozawa, T., Kuma, K., RefAuthors Aoki, N., Kosugi, S., Sugano, K., Yamaguchi, K. RefTitle Two germline missense mutations at codons 804 and 806 of RefTitle the RET proto-oncogene in the same allele in a patient RefTitle with multiple endocrine neoplasia type 2B without codon RefTitle 918 mutation. RefLoc Jpn J Cancer Res 90:1-5 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43492 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2612 Feature /codon: tac -> tgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 806 Feature /change: Y -> C Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID RET_Y791F(1); standard; MUTATION; PK Accession K00023 Systematic name g.42397A>T, c.2372A>T, r.2372a>u, p.Tyr791Phe Original code K313 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 9506724 RefAuthors Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, RefAuthors P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. RefTitle A new hot spot for mutations in the ret protooncogene RefTitle causing familial medullary thyroid carcinoma and multiple RefTitle endocrine neoplasia type 2A. RefLoc J Clin Endocrinol Metab 83:770-774 (1998) RefNumber [2] RefCrossRef PUBMED; 12566528 RefAuthors Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., RefAuthors Roesner, D., Schackert, H. K. RefTitle Association of germline mutations and polymorphisms of the RefTitle RET proto-oncogene with idiopathic congenital central RefTitle hypoventilation syndrome in 33 patients. RefLoc J Med Genet 40:E10 (2003) RefNumber [3] RefCrossRef PUBMED; 16388093 RefAuthors Arum, S. M., Dahia, P. L., Schneider, K., Braverman, L. E. RefTitle A RET mutation with decreased penetrance in the family of RefTitle a patient with a 'sporadic' pheochromocytoma. RefLoc Endocrine:193-198 (2005) RefNumber [4] RefCrossRef PUBMED; 16356097 RefAuthors Vierhapper, H., Rondot, S., Schulze, E., Wagner, L., RefAuthors Hanslik, S., Niederle, B., Bieglmayer, C., Kaserer, K., RefAuthors Baumgartner-Parzer, S. RefTitle Primary hyperparathyroidism as the leading symptom in a RefTitle patient with a Y791F RET mutation. RefLoc Thyroid:1303-1308 (2005) RefNumber [9] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [13] RefCrossRef PUBMED; 19745057 RefAuthors Margraf, R. L., Calderon, F. R., Mao, R., Wittwer, C. T. RefTitle RET mutation scanning update: exon 15. RefLoc Clin Chem 55:2059-61 RefNumber [18] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 RefNumber [11] RefCrossRef PUBMED; 17610518 RefAuthors Tamanaha, R., Camacho, C. P., Ikejiri, E. S., Maciel, R. RefAuthors M., Cerutti, J. M. RefTitle Y791F RET mutation and early onset of medullary thyroid RefTitle carcinoma in a Brazilian kindred: evaluation of phenotype- RefTitle modifying effect of germline variants. RefLoc Clin Endocrinol (Oxf) 67:806-8 DB CrossRef OMIM; 164761.0034 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42397 Feature /change: a -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2567 Feature /codon: tat -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 791 Feature /change: Y -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Hirschsprung disease Diagnosis Sporadic medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Diagnosis Occurrence Families: 15; Patients: 45; Homozygotes: 0 Comment -!-One of the patients harbored, within the Menin gene, a Comment -!-polymorphism (D418D) reportedly associated with sporadic Comment -!-primary hyperparathyroidism. Comment -!-Novel double mutation in the RET protooncogene, Comment -!-C634Y/Y791F. // ID RET_S891A(1); standard; MUTATION; PK Accession K00024 Systematic name g.44081T>G, c.2671T>G, r.2671u>g, p.Ser891Ala Original code K314 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 10024437 RefAuthors Dang, G. T., Cote, G. J., Schultz, P. N., Khorana, S., RefAuthors Decker, R. A., Gagel, R. F. RefTitle A codon 891 exon 15 RET proto-oncogene mutation in RefTitle familial medullary thyroid carcinoma: a detection RefTitle strategy. RefLoc Mol Cell Probes 13:77-79 (1999) RefNumber [2] RefCrossRef PUBMED; 9398735 RefAuthors Hofstra, R. M., Fattoruso, O., Quadro, L., Wu, Y., RefAuthors Libroia, A., Verga, U., Colantuoni, V., Buys, C. H. RefTitle A novel point mutation in the intracellular domain of the RefTitle ret protooncogene in a family with medullary thyroid RefTitle carcinoma. RefLoc J Clin Endocrinol Metab 82:4176-4178 (1997) RefNumber [3] RefCrossRef PUBMED; 12686527 RefAuthors Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., RefAuthors Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. RefAuthors F., Lee, J. E., Evans, D. B. RefTitle Multiple endocrine neoplasia type 2: evaluation of the RefTitle genotype-phenotype relationship. RefLoc Arch Surg 138:409-16; discussion 4416 (2003) RefNumber [4] RefCrossRef PUBMED; 15292360 RefAuthors Jimenez, C., Habra, M. A., Huang, S. C., El-Naggar, A., RefAuthors Shapiro, S. E., Evans, D. B., Cote, G., Gagel, R. F. RefTitle Pheochromocytoma and medullary thyroid carcinoma: a new RefTitle genotype-phenotype correlation of the RET protooncogene RefTitle 891 germline mutation. RefLoc J Clin Endocrinol Metab:4142-4145 (2004) RefNumber [9] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [17] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44081 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2866 Feature /codon: tcg -> gcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 891 Feature /change: S -> A Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 10; Patients: 14; Homozygotes: 0 Comment -!-Autosomal dominant mutation // ID RET_P766S(1); standard; MUTATION; PK Accession K00025 Systematic name g.42321C>T, c.2296C>T, r.2296c>u, p.Pro766Ser Original code K315 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9617347 RefAuthors Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, RefAuthors H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., RefAuthors Yamashita, H. RefTitle Novel point mutations and allele loss at the RET locus in RefTitle sporadic medullary thyroid carcinomas. RefLoc Jpn J Cancer Res 89:411-418 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42321 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2491 Feature /codon: ccg -> tcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 766 Feature /change: P -> S Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_L790F(1); standard; MUTATION; PK Accession K00026 Systematic name g.42395G>T, c.2370G>T, r.2370g>u, p.Leu790Phe Original code K311 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9506724 RefAuthors Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, RefAuthors P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. RefTitle A new hot spot for mutations in the ret protooncogene RefTitle causing familial medullary thyroid carcinoma and multiple RefTitle endocrine neoplasia type 2A. RefLoc J Clin Endocrinol Metab 83:770-774 (1998) RefNumber [7] RefCrossRef PUBMED; 18062802 RefAuthors Machens, A., Dralle, H. RefTitle Familial prevalence and age of RET germline mutations: RefTitle implications for screening. RefLoc Clin Endocrinol (Oxf) 69:81-7 DB CrossRef OMIM; 164761.0033 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42395 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2565 Feature /codon: ttg -> ttt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 790 Feature /change: L -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 20; Patients: 63; Homozygotes: 0 // ID RET_L790F(2); standard; MUTATION; PK Accession K00027 Systematic name g.42395G>C, c.2370G>C, r.2370g>c, p.Leu790Phe Original code K312 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9506724 RefAuthors Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, RefAuthors P., Grussendorf, M., Raue, F., Ritter, M. M., Hoppner, W. RefTitle A new hot spot for mutations in the ret protooncogene RefTitle causing familial medullary thyroid carcinoma and multiple RefTitle endocrine neoplasia type 2A. RefLoc J Clin Endocrinol Metab 83:770-774 (1998) RefNumber [13] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42395 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2565 Feature /codon: ttg -> ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 790 Feature /change: L -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 3; Patients: 8; Homozygotes: 0 // ID RET_A919V(1); standard; MUTATION; PK Accession K00028 Systematic name g.45908C>T, c.2756C>T, r.2756c>u, p.Ala919Val Original code K316 Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9617347 RefAuthors Uchino, S., Noguchi, S., Adachi, M., Sato, M., Yamashita, RefAuthors H., Watanabe, S., Murakami, T., Toda, M., Murakami, N., RefAuthors Yamashita, H. RefTitle Novel point mutations and allele loss at the RET locus in RefTitle sporadic medullary thyroid carcinomas. RefLoc Jpn J Cancer Res 89:411-418 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45908 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2951 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 919 Feature /change: A -> V Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_W942X(1); standard; MUTATION; PK Accession K00029 Systematic name g.47631G>A, c.2825G>A, r.2825g>a, p.Trp942X Original code K54 Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47631 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3020 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RET_HUMAN: 942 Feature /change: W -> X Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_V804M(1); standard; MUTATION; PK Accession K00030 Systematic name g.43485G>A, c.2410G>A, r.2410g>a, p.Val804Met Original code K49 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 17) RefNumber [1] RefAuthors Fatturuso O, Quadro L, Libroia A, Verga U, Lupoli G, Cascone E, RefAuthors Colantuoni V. RefTitle "RET proto-oncogene in two families affected by familial RefTitle medullary thyroid carcinoma". RefLoc Human mutation online 72 (1997) RefNumber [2] RefCrossRef PUBMED; 9452077 RefAuthors Fattoruso, O., Quadro, L., Libroia, A., Verga, U., Lupoli, RefAuthors G., Cascone, E., Colantuoni, V. RefTitle A GTG to ATG novel point mutation at codon 804 in exon 14 RefTitle of the RET proto-oncogene in two families affected by RefTitle familial medullary thyroid carcinoma. RefLoc Hum Mutat Suppl 1:S167-171 (1998) RefNumber [3] RefCrossRef PUBMED; 10826520 RefAuthors Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, RefAuthors M., Hoppner, W. RefTitle A RET double mutation in the germline of a kindred with RefTitle FMTC. RefLoc Exp Clin Endocrinol Diabetes 108:128-132 (2000) RefNumber [4] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () RefNumber [5] RefCrossRef PUBMED; 9607728 RefAuthors Scurini, C., Quadro, L., Fattoruso, O., Verga, U., RefAuthors Libroia, A., Lupoli, G., Cascone, E., Marzano, L., RefAuthors Paracchi, S., Busnardo, B., Girelli, M. E., Bellastella, RefAuthors A., Colantuoni, V. RefTitle Germline and somatic mutations of the RET proto-oncogene RefTitle in apparently sporadic medullary thyroid carcinomas. RefLoc Mol Cell Endocrinol 137:51-57 (1998) RefNumber [6] RefCrossRef PUBMED; 11788682 RefAuthors Menko, F. H., van der Luijt, R. B., de Valk, I. A., RefAuthors Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C. RefAuthors J. RefTitle Atypical MEN type 2B associated with two germline RET RefTitle mutations on the same allele not involving codon 918. RefLoc J Clin Endocrinol Metab 87:393-397 (2002) RefNumber [7] RefCrossRef PUBMED; 16343097 RefAuthors Learoyd, D. L., Gosnell, J., Elston, M. S., Saurine, T. RefAuthors J., Richardson, A. L., Delbridge, L. W., Aglen, J. V., RefAuthors Robinson, B. G. RefTitle Experience of prophylactic thyroidectomy in multiple RefTitle endocrine neoplasia type 2A kindreds with RET codon 804 RefTitle mutations. RefLoc Clin Endocrinol (Oxf):636-641 (2005) RefNumber [8] RefCrossRef PUBMED; 12019403 RefAuthors Lecube, A., Hernandez, C., Oriola, J., Galard, R., Gemar, RefAuthors E., Mesa, J., Simo, R. RefTitle V804M RET mutation and familial medullary thyroid RefTitle carcinoma: report of a large family with expression of the RefTitle disease only in the homozygous gene carriers. RefLoc Surgery:509-514 (2002) RefNumber [9] RefCrossRef PUBMED; 15386323 RefAuthors Gibelin, H., Bezieau, S., Misso, C., Bouin-Pineau, M. H., RefAuthors Marechaud, R., Kraimps, J. L. RefTitle Germline RET V804M mutation associated with multiple RefTitle endocrine neoplasia type 2A. RefLoc Br J Surg:1458-1459 (2004) RefNumber [18] RefCrossRef PUBMED; 21134561 RefAuthors Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., RefAuthors Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. RefAuthors J. RefTitle Single nucleotide polymorphisms act as modifiers and RefTitle correlate with the development of medullary and RefTitle simultaneous medullary/papillary thyroid carcinomas in 2 RefTitle large, non-related families with the RET V804M proto- RefTitle oncogene mutation. RefLoc Surgery 148:1274-80; discussion 1280-1 RefNumber [11] RefCrossRef PUBMED; 18299477 RefAuthors Foppiani, L., Forzano, F., Ceccherini, I., Bruno, W., RefAuthors Ghiorzo, P., Caroli, F., Quilici, P., Bandelloni, R., RefAuthors Arlandini, A., Sartini, G., Cabria, M., Del Monte, P. RefTitle Uncommon association of germline mutations of RET proto- RefTitle oncogene and CDKN2A gene. RefLoc Eur J Endocrinol 158:417-22 RefNumber [23] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 DB CrossRef OMIM; 164761.0043 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43485 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 804 Feature /change: V -> M Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Diagnosis Occurrence Families: 17; Patients: 64; Homozygotes: 8 Comment -!-4 members of a family holds also a S904C mutation in the Comment -!-same allele // ID RET_V804L(1); standard; MUTATION; PK Accession K00031 Systematic name g.43485G>T, c.2410G>T, r.2410g>u, p.Val804Leu Original code K50 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 7784092 RefAuthors Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, RefAuthors M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., RefAuthors Schlumberger, M. RefTitle RET mutations in exons 13 and 14 of FMTC patients. RefLoc Oncogene 10:2415-2419 (1995) RefNumber [2] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () RefNumber [3] RefCrossRef PUBMED; 12694233 RefAuthors Patocs, A., Valkusz, Z., Igaz, P., Balogh, K., Toth, M., RefAuthors Varga, I., Racz, K. RefTitle Segregation of the V804L mutation and S836S polymorphism RefTitle of exon 14 of the RET gene in an extended kindred with RefTitle familial medullary thyroid cancer. RefLoc Clin Genet 63:219-223 (2003) RefNumber [4] RefCrossRef PUBMED; 12686527 RefAuthors Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., RefAuthors Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. RefAuthors F., Lee, J. E., Evans, D. B. RefTitle Multiple endocrine neoplasia type 2: evaluation of the RefTitle genotype-phenotype relationship. RefLoc Arch Surg 138:409-16; discussion 4416 (2003) RefNumber [5] RefCrossRef PUBMED; 16343097 RefAuthors Learoyd, D. L., Gosnell, J., Elston, M. S., Saurine, T. RefAuthors J., Richardson, A. L., Delbridge, L. W., Aglen, J. V., RefAuthors Robinson, B. G. RefTitle Experience of prophylactic thyroidectomy in multiple RefTitle endocrine neoplasia type 2A kindreds with RET codon 804 RefTitle mutations. RefLoc Clin Endocrinol (Oxf):636-641 (2005) RefNumber [10] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [18] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 DB CrossRef OMIM; 164761.0044 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43485 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605 Feature /codon: gtg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 804 Feature /change: V -> L Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 11; Patients: 48; Homozygotes: 0 // ID RET_S922Y(1); standard; MUTATION; PK Accession K00032 Systematic name g.45917C>A, c.2765C>A, r.2765c>a, p.Ser922Tyr Original code K53 Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8595427 RefAuthors Kitamura, Y., Scavarda, N., Wells, S. A., Jackson, C. E., RefAuthors Goodfellow, P. J. RefTitle Two maternally derived missense mutations in the tyrosine RefTitle kinase domain of the RET protooncogene in a patient with RefTitle de novo MEN 2B. RefLoc Hum Mol Genet 4:1987-1988 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45917 Feature /change: c -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2960 Feature /codon: tcc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 922 Feature /change: S -> Y Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S765P(1); standard; MUTATION; PK Accession K00033 Systematic name g.42318T>C, c.2293T>C, r.2293u>c, p.Ser765Pro Original code K44 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8114938 RefAuthors Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., RefAuthors Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., RefAuthors Kaariainen, H. RefTitle Point mutations affecting the tyrosine kinase domain of RefTitle the RET proto-oncogene in hirschsprung's disease. RefLoc Nature 367:377-378 (1994) RefNumber [2] RefCrossRef PUBMED; 7704557 RefAuthors Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., RefAuthors Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, RefAuthors S. RefTitle Heterogeneity and low detection rate of RET mutations in RefTitle hirschsprung disease. RefLoc Eur J Hum Genet 2:272-280 (1994) DB CrossRef OMIM; 164761.0015 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42318 Feature /change: t -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2488 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 765 Feature /change: S -> P Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_R972G(1); standard; MUTATION; PK Accession K00034 Systematic name g.47720A>G, c.2914A>G, r.2914a>g, p.Arg972Gly Original code K46 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8114938 RefAuthors Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., RefAuthors Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., RefAuthors Kaariainen, H. RefTitle Point mutations affecting the tyrosine kinase domain of RefTitle the RET proto-oncogene in hirschsprung's disease. RefLoc Nature 367:377-378 (1994) DB CrossRef OMIM; 164761.0017 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47720 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3109 Feature /codon: agg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 972 Feature /change: R -> G Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_R897Q(1); standard; MUTATION; PK Accession K00035 Systematic name g.44100G>A, c.2690G>A, r.2690g>a, p.Arg897Gln Original code K45 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8114938 RefAuthors Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., RefAuthors Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., RefAuthors Kaariainen, H. RefTitle Point mutations affecting the tyrosine kinase domain of RefTitle the RET proto-oncogene in hirschsprung's disease. RefLoc Nature 367:377-378 (1994) RefNumber [2] RefCrossRef PUBMED; 7704557 RefAuthors Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., RefAuthors Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, RefAuthors S. RefTitle Heterogeneity and low detection rate of RET mutations in RefTitle hirschsprung disease. RefLoc Eur J Hum Genet 2:272-280 (1994) DB CrossRef OMIM; 164761.0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44100 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2885 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 897 Feature /change: R -> Q Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_P973L(1); standard; MUTATION; PK Accession K00036 Systematic name g.47724C>T, c.2918C>T, r.2918c>u, p.Pro973Leu Original code K43 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7704557 RefAuthors Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., RefAuthors Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, RefAuthors S. RefTitle Heterogeneity and low detection rate of RET mutations in RefTitle hirschsprung disease. RefLoc Eur J Hum Genet 2:272-280 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47724 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3113 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 973 Feature /change: P -> L Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_M918T(1); standard; MUTATION; PK Accession K00037 Systematic name g.45905T>C, c.2753T>C, r.2753u>c, p.Met918Thr Original code K51 Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 12) RefNumber [1] RefCrossRef PUBMED; 7906417 RefAuthors Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, RefAuthors K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., Donis- RefAuthors Keller, H. RefTitle Single missense mutation in the tyrosine kinase catalytic RefTitle domain of the RET protooncogene is associated with RefTitle multiple endocrine neoplasia type 2B. RefLoc Proc Natl Acad Sci U S A 91:1579-1583 (1994) RefNumber [2] RefCrossRef PUBMED; 7911697 RefAuthors Eng, C., Smith, D. P., Mulligan, L. M., Nagai, M. A., RefAuthors Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. RefAuthors F., Jackson, C. E., Tunnacliffe, A. RefTitle Point mutation within the tyrosine kinase domain of the RefTitle RET proto-oncogene in multiple endocrine neoplasia type 2B RefTitle and related sporadic tumours. RefLoc Hum Mol Genet 3:237-241 (1994) RefNumber [3] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () RefNumber [4] RefCrossRef PUBMED; 12686527 RefAuthors Yip, L., Cote, G. J., Shapiro, S. E., Ayers, G. D., RefAuthors Herzog, C. E., Sellin, R. V., Sherman, S. I., Gagel, R. RefAuthors F., Lee, J. E., Evans, D. B. RefTitle Multiple endocrine neoplasia type 2: evaluation of the RefTitle genotype-phenotype relationship. RefLoc Arch Surg 138:409-16; discussion 4416 (2003) RefNumber [5] RefCrossRef PUBMED; 12604374 RefAuthors Gonzalez, B., Salcedo, M., Medrano, M. E., Mantilla, A., RefAuthors Quinonez, G., Benitez-Bribiesca, L., Rodriguez-Cuevas, S., RefAuthors Cabrera, L., de Leon, B., Altamirano, N., Tapia, J., RefAuthors Dawson, B. RefTitle RET oncogene mutations in medullary thyroid carcinoma in RefTitle mexican families. RefLoc Arch Med Res 34:41-49 () RefNumber [6] RefCrossRef PUBMED; 15181227 RefAuthors Chang, A., Chan, W. F., Lo, C. Y., Lam, K. S. RefTitle Multiple endocrine neoplasia type 2B in a chinese patient. RefLoc Hong Kong Med J 10:206-209 () RefNumber [11] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 RefNumber [14] RefCrossRef PUBMED; 18252215 RefAuthors Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. RefAuthors E., Freemerman, A. J. RefTitle Renal aplasia in humans is associated with RET mutations. RefLoc Am J Hum Genet 82:344-51 DB CrossRef OMIM; 164761.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45905 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2948 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 918 Feature /change: M -> T Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 48; Patients: 48; Homozygotes: 0 // ID RET_E921X(1); standard; MUTATION; PK Accession K00038 Systematic name g.45913G>T, c.2761G>T, r.2761g>u, p.Glu921X Original code K52 Description A point mutation in the exon 16 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45913 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2956 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RET_HUMAN: 921 Feature /change: E -> X Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_E768D(1); standard; MUTATION; PK Accession K00039 Systematic name g.42329G>C, c.2304G>C, r.2304g>c, p.Glu768Asp Original code K47 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 7845675 RefAuthors Eng, C., Smith, D. P., Mulligan, L. M., Healey, C. S., RefAuthors Zvelebil, M. J., Stonehouse, T. J., Ponder, M. A., RefAuthors Jackson, C. E., Waterfield, M. D., Ponder, B. A. RefTitle A novel point mutation in the tyrosine kinase domain of RefTitle the RET proto-oncogene in sporadic medullary thyroid RefTitle carcinoma and in a family with FMTC. RefLoc Oncogene 10:509-513 (1995) RefNumber [2] RefCrossRef PUBMED; 7784092 RefAuthors Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, RefAuthors M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., RefAuthors Schlumberger, M. RefTitle RET mutations in exons 13 and 14 of FMTC patients. RefLoc Oncogene 10:2415-2419 (1995) RefNumber [3] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem (2004) RefNumber [4] RefCrossRef PUBMED; 15855933 RefAuthors Aiello, A., Cioni, K., Gobbo, M., Collini, P., Gullo, M., RefAuthors Della Torre, G., Passerini, E., Ferrando, B., Pilotti, S., RefAuthors Pierotti, M. A., Pasini, B. RefTitle The familial medullary thyroid carcinoma-associated RET RefTitle E768D mutation in a multiple endocrine neoplasia type 2A RefTitle case. RefLoc Surgery:574-576 (2005) RefNumber [10] RefCrossRef PUBMED; 18062802 RefAuthors Machens, A., Dralle, H. RefTitle Familial prevalence and age of RET germline mutations: RefTitle implications for screening. RefLoc Clin Endocrinol (Oxf) 69:81-7 RefNumber [17] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42329 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2499 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 768 Feature /change: E -> D Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 13; Patients: 21; Homozygotes: 0 Comment -!-Polymorphism // ID RET_E762Q(1); standard; MUTATION; PK Accession K00040 Systematic name g.40668G>C, c.2284G>C, r.2284g>c, p.Glu762Gln Original code K42 Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber 1 RefAuthors Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, RefAuthors Pasini B, Tocco T, Lerone M, Cywes S, Moore S, Vanderwinden JM, RefAuthors Abramowicz MJ, Kristofferson U, Larsson LT, Hamel BCJ, RefAuthors Silengo M, Martuciello G, Romeo G. RefTitle "Heterogeneity and low detection rate of RET mutations in RefTitle Hirschsprung disease". RefLoc Eur. J. Genet. 2:272-280 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 40668 Feature /change: g -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2479 Feature /codon: gag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 762 Feature /change: E -> Q Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#P281X286(1); standard; MUTATION; PK Accession K00041 Systematic name g.15407delC, c.842delC, r.842delc, p.Pro281fsX5 Original code K327 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) RefNumber [2] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) RefNumber [7] RefCrossRef PUBMED; 20082862 RefAuthors Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., RefAuthors Kim, C. H., Jung, T. H., Park, J. Y. RefTitle LKB1 mutations are extremely rare in Korean non-small cell RefTitle lung cancers. RefLoc Cancer Genet Cytogenet 196:204-6 RefNumber [9] RefCrossRef PUBMED; 20435009 RefAuthors De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De RefAuthors Palma, G., Rossi, G. B., Staiano, A., Izzo, P. RefTitle Alu-mediated genomic deletion of the serine/threonine RefTitle protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. RefLoc Gastroenterology 138:2558-60 RefNumber [15] RefCrossRef PUBMED; 17711506 RefAuthors Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., RefAuthors Takahashi, T., Yatabe, Y., Mitsudomi, T. RefTitle LKB1 gene mutations in Japanese lung cancer patients. RefLoc Cancer Sci 98:1747-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15407 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1180 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> RSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID STK11_P281L(1); standard; MUTATION; PK Accession K00042 Systematic name g.15407C>T, c.842C>T, r.842c>u, p.Pro281Leu Original code K325 Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) RefNumber [2] RefCrossRef PUBMED; 14687797 RefAuthors Kim, C. J., Cho, Y. G., Park, J. Y., Kim, T. Y., Lee, J. RefAuthors H., Kim, H. S., Lee, J. W., Song, Y. H., Nam, S. W., Lee, RefAuthors S. H., Yoo, N. J., Lee, J. Y., Park, W. S. RefTitle Genetic analysis of the LKB1/STK11 gene in hepatocellular RefTitle carcinomas. RefLoc Eur J Cancer 40:136-141 (2004) RefNumber [7] RefCrossRef PUBMED; 20082862 RefAuthors Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., RefAuthors Kim, C. H., Jung, T. H., Park, J. Y. RefTitle LKB1 mutations are extremely rare in Korean non-small cell RefTitle lung cancers. RefLoc Cancer Genet Cytogenet 196:204-6 RefNumber [14] RefCrossRef PUBMED; 17711506 RefAuthors Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., RefAuthors Takahashi, T., Yatabe, Y., Mitsudomi, T. RefTitle LKB1 gene mutations in Japanese lung cancer patients. RefLoc Cancer Sci 98:1747-51 RefNumber [18] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15407 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1180 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> L Feature /domain: PK Diagnosis Colon cancer Diagnosis Hepatocellular carcinoma (HCC) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 5; Patients: 8; Homozygotes: 0 // ID STK11_#N247-1(1); standard; MUTATION; PK Accession K00043 Systematic name g.15304delA, c.739delA, r.739dela, p.Asn247fsX39 Original code K321 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15304 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1077 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 247 Feature /change: N -> TSPRVCTPSK GTTSTSCLRT SGRGATPSRA TVAPRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L245X286(1); standard; MUTATION; PK Accession K00044 Systematic name g.15300delC, c.735delC, r.735delc, p.Tyr246fsX40 Original code K320 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15300 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1073 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 245 Feature /change: L -> Feature /change: LTTSPRVCTP SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L140X160(1); standard; MUTATION; PK Accession K00045 Systematic name g.13454delC, c.418delC, r.418delc, p.Leu140fsX20 Original code K319 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9760200 RefAuthors Nakagawa, H., Koyama, K., Miyoshi, Y., Ando, H., Baba, S., RefAuthors Watatani, M., Yasutomi, M., Matsuura, N., Monden, M., RefAuthors Nakamura, Y. RefTitle Nine novel germline mutations of STK11 in ten families RefTitle with peutz-jeghers syndrome. RefLoc Hum Genet 103:168-172 (1998) RefNumber [5] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 13454 Feature /change: -c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 756 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 140 Feature /change: L -> WTACRRSVSQ CARPTGTSVS X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_G215D(1); standard; MUTATION; PK Accession K00046 Systematic name g.14714G>A, c.644G>A, r.644g>a, p.Gly215Asp Original code K328 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14714 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 982 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 215 Feature /change: G -> D Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_G171S(1); standard; MUTATION; PK Accession K00047 Systematic name g.14506G>A, c.511G>A, r.511g>a, p.Gly171Ser Original code K330 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14506 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 849 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 171 Feature /change: G -> S Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_E199K(1); standard; MUTATION; PK Accession K00048 Systematic name g.14590G>A, c.595G>A, r.595g>a, p.Glu199Lys Original code K329 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14590 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 933 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 199 Feature /change: E -> K Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_D208N(1); standard; MUTATION; PK Accession K00049 Systematic name g.14692G>A, c.622G>A, r.622g>a, p.Asp208Asn Original code K326 Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9731485 RefAuthors Dong, S. M., Kim, K. M., Kim, S. Y., Shin, M. S., Na, E. RefAuthors Y., Lee, S. H., Park, W. S., Yoo, N. J., Jang, J. J., RefAuthors Yoon, C. Y., Kim, J. W., Kim, S. Y., Yang, Y. M., Kim, S. RefAuthors H., Kim, C. S., Lee, J. Y. RefTitle Frequent somatic mutations in serine/threonine kinase RefTitle 11/peutz-jeghers syndrome gene in left-sided colon cancer. RefLoc Cancer Res 58:3787-3790 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14692 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 960 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 208 Feature /change: D -> N Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y60X(1); standard; MUTATION; PK Accession K00050 Systematic name g.1180C>G, c.180C>G, r.180c>g, p.Tyr60X Original code K75 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) RefNumber [7] RefCrossRef PUBMED; 15617552 RefAuthors Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., RefAuthors Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., RefAuthors Sugimura, H. RefTitle A novel STK11 germline mutation in two siblings with Peutz- RefTitle Jeghers syndrome complicated by primary gastric cancer. RefLoc Clin Genet 67:81-6 RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [10] RefCrossRef PUBMED; 20497868 RefAuthors Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C. RefTitle Clinical and genetic analysis of Peutz-Jeghers syndrome RefTitle patients in Taiwan. RefLoc J Formos Med Assoc 109:354-61 RefNumber [14] RefCrossRef PUBMED; 17637250 RefAuthors Zuo, Y. G., Xu, K. J., Su, B., Ho, M. G., Liu, Y. H. RefTitle Two novel STK11 mutations in three Chinese families with RefTitle Peutz-Jeghers syndrome. RefLoc Chin Med J (Engl) 120:1183-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1180 Feature /change: c -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 518 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 60 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 7; Patients: 11; Homozygotes: 0 // ID STK11_Y253X(1); standard; MUTATION; PK Accession K00051 Systematic name g.15324C>A, c.759C>A, r.759c>a, p.Tyr253X Original code K69 Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9425897 RefAuthors Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, RefAuthors S., Jeschke, R., Muller, O., Back, W., Zimmer, M. RefTitle Peutz-jeghers syndrome is caused by mutations in a novel RefTitle serine threonine kinase. RefLoc Nat Genet 18:38-43 (1998) DB CrossRef OMIM; 602216.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15324 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1097 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 253 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#W239X285(1); standard; MUTATION; PK Accession K00052 Systematic name g.14786delG, c.716delG, r.716delg, p.Trp239fsX47 Original code K68 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9425897 RefAuthors Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, RefAuthors S., Jeschke, R., Muller, O., Back, W., Zimmer, M. RefTitle Peutz-jeghers syndrome is caused by mutations in a novel RefTitle serine threonine kinase. RefLoc Nat Genet 18:38-43 (1998) RefNumber [2] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 DB CrossRef OMIM; 602216.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14786 Feature /change: -g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1054 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 239 Feature /change: W -> Feature /change: CRLGSPSTTS PRVCTPSKGT TSTSCLRTSG RGATPSRATV Feature /change: APRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Q170X(1); standard; MUTATION; PK Accession K00053 Systematic name g.14503C>T, c.508C>T, r.508c>u, p.Gln170X Original code K67 Description A point mutation in the exon 4 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10208439 RefAuthors Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, RefAuthors T., Kirkin, A. F., Zeuthen, J. RefTitle Somatic mutation of the peutz-jeghers syndrome gene, RefTitle LKB1/STK11, in malignant melanoma. RefLoc Oncogene 18:1777-1780 (1999) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14503 Feature /change: c -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 846 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 170 Feature /change: Q -> X Feature /domain: PK Diagnosis Sporadic malignant melanoma Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 6; Homozygotes: 0 // ID STK11_#P281X286(2); standard; MUTATION; PK Accession K00054 Systematic name g.15408delG, c.843delG, r.843delg, p.Leu282fsX4 Original code K70 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9425897 RefAuthors Jenne, D. E., Reimann, H., Nezu, J., Friedel, W., Loff, RefAuthors S., Jeschke, R., Muller, O., Back, W., Zimmer, M. RefTitle Peutz-jeghers syndrome is caused by mutations in a novel RefTitle serine threonine kinase. RefLoc Nat Genet 18:38-43 (1998) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 DB CrossRef OMIM; 602216.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15408 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1181 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> PSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID STK11_L67P(1); standard; MUTATION; PK Accession K00055 Systematic name g.1200T>C, c.200T>C, r.200u>c, p.Leu67Pro Original code K74 Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1200 Feature /change: t -> c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 538 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 67 Feature /change: L -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_K84X(1); standard; MUTATION; PK Accession K00056 Systematic name g.1250A>T, c.250A>T, r.250a>u, p.Lys84X Original code K76 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 DB CrossRef OMIM; 602216.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1250 Feature /change: a -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 588 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 84 Feature /change: K -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID STK11_#I303-3(1); standard; MUTATION; PK Accession K00057 Systematic name g.16081delT, c.908delT, r.908delu, p.Ile303fsX32 Original code K77 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16081 Feature /change: -t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1246 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 303 Feature /change: I -> TGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_G163D(1); standard; MUTATION; PK Accession K00058 Systematic name g.14483G>A, c.488G>A, r.488g>a, p.Gly163Asp Original code K64 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9605748 RefAuthors Avizienyte, E., Roth, S., Loukola, A., Hemminki, A., RefAuthors Lothe, R. A., Stenwig, A. E., Fossa, S. D., Salovaara, RefAuthors R., Aaltonen, L. A. RefTitle Somatic mutations in LKB1 are rare in sporadic colorectal RefTitle and testicular tumors. RefLoc Cancer Res 58:2087-2090 (1998) DB CrossRef OMIM; 602216.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14483 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 826 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 163 Feature /change: G -> D Feature /domain: PK Diagnosis Colon cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E70X(1); standard; MUTATION; PK Accession K00059 Systematic name g.1208G>T, c.208G>T, r.208g>u, p.Glu70X Original code K73 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1208 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 546 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 70 Feature /change: E -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_E57X(1); standard; MUTATION; PK Accession K00060 Systematic name g.1169G>T, c.169G>T, r.169g>u, p.Glu57X Original code K72 Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1169 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 507 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 57 Feature /change: E -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_D194Y(1); standard; MUTATION; PK Accession K00061 Systematic name g.14575G>T, c.580G>T, r.580g>u, p.Asp194Tyr Original code K71 Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10208439 RefAuthors Guldberg, P., thor Straten, P., Ahrenkiel, V., Seremet, RefAuthors T., Kirkin, A. F., Zeuthen, J. RefTitle Somatic mutation of the peutz-jeghers syndrome gene, RefTitle LKB1/STK11, in malignant melanoma. RefLoc Oncogene 18:1777-1780 (1999) RefNumber [15] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 DB CrossRef OMIM; 602216.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14575 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 918 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 194 Feature /change: D -> Y Feature /domain: PK Diagnosis Sporadic malignant melanoma Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TEK_R849W(1); standard; MUTATION; PK Accession K00062 Systematic name g.49939C>T, c.2545C>T, r.2545c>u, p.Arg849Trp Original code K66 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 8980225 RefAuthors Vikkula, M., Boon, L. M., Carraway, K. L., Calvert, J. T., RefAuthors Diamonti, A. J., Goumnerov, B., Pasyk, K. A., Marchuk, D. RefAuthors A., Warman, M. L., Cantley, L. C., Mulliken, J. B., Olsen, RefAuthors B. R. RefTitle Vascular dysmorphogenesis caused by an activating mutation RefTitle in the receptor tyrosine kinase TIE2. RefLoc Cell 87:1181-1190 (1996) RefNumber [2] RefCrossRef PUBMED; 10369874 RefAuthors Calvert, J. T., Riney, T. J., Kontos, C. D., Cha, E. H., RefAuthors Prieto, V. G., Shea, C. R., Berg, J. N., Nevin, N. C., RefAuthors Simpson, S. A., Pasyk, K. A., Speer, M. C., Peters, K. G., RefAuthors Marchuk, D. A. RefTitle Allelic and locus heterogeneity in inherited venous RefTitle malformations. RefLoc Hum Mol Genet 8:1279-1289 (1999) RefNumber [3] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 DB CrossRef OMIM; 600221.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 49939 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2693 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 849 Feature /change: R -> W Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Diagnosis Occurrence Families: 13; Patients: 93; Homozygotes: 0 // ID PAK3_R419X(1); standard; MUTATION; PK Accession K00063 Systematic name g.74385C>T, c.1255C>T, r.1255c>u, p.Arg419X Original code K65 Description A point mutation in the exon 12 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9731525 RefAuthors Allen, K. M., Gleeson, J. G., Bagrodia, S., Partington, M. RefAuthors W., MacMillan, J. C., Cerione, R. A., Mulley, J. C., RefAuthors Walsh, C. A. RefTitle PAK3 mutation in nonsyndromic X-linked mental retardation. RefLoc Nat Genet 20:25-30 (1998) DB CrossRef OMIM; 300142.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PAK3_DNA: 74385 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF068864; GI:6174887; AF068864: 1255 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PAK3_HUMAN: 419 Feature /change: R -> X Feature /domain: PK Diagnosis X-linked nonsyndromic mental retardation (MRX) Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID NTRK1_R643W(1); standard; MUTATION; PK Accession K00064 Systematic name g.19327C>T, c.1927C>T, r.1927c>u, p.Arg643Trp Original code K80 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19327 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2047 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 643 Feature /change: R -> W Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID NTRK1_#E548X651(1); standard; MUTATION; PK Accession K00065 Systematic name g.16493delC, c.1642delC, r.1642delc, p.Glu548fsX103 Original code K79 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10233776 RefAuthors Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., RefAuthors Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T. RefTitle A novel point mutation affecting the tyrosine kinase RefTitle domain of the TRKA gene in a family with congenital RefTitle insensitivity to pain with anhidrosis. RefLoc J Invest Dermatol 112:810-814 (1999) RefNumber [2] RefCrossRef PUBMED; 8696348 RefAuthors Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, RefAuthors K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., RefAuthors Matsuda, I. RefTitle Mutations in the TRKA/NGF receptor gene in patients with RefTitle congenital insensitivity to pain with anhidrosis. RefLoc Nat Genet 13:485-488 (1996) RefNumber [3] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) DB CrossRef OMIM; 191315.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: NTRK1_DNA: 16493 Feature /change: -c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1762 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 548 Feature /change: R -> Feature /change: GRTSNVRLSC SPCCSTSTSC ASSASAPRAA PCSWSSSICG Feature /change: TGTSTASSDP MDPMPSCWLV GRMWLQAPWV WGSCWPWLAR Feature /change: SLRGWCTWRV CILCTGTWPH ATVX Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Diagnosis Occurrence Families: 17; Patients: 27; Homozygotes: 7 // ID NTRK1_M581V(1); standard; MUTATION; PK Accession K00066 Systematic name g.16592A>G, c.1741A>G, r.1741a>g, p.Met581Val Original code K78 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10233776 RefAuthors Yotsumoto, S., Setoyama, M., Hozumi, H., Mizoguchi, S., RefAuthors Fukumaru, S., Kobayashi, K., Saheki, T., Kanzaki, T. RefTitle A novel point mutation affecting the tyrosine kinase RefTitle domain of the TRKA gene in a family with congenital RefTitle insensitivity to pain with anhidrosis. RefLoc J Invest Dermatol 112:810-814 (1999) DB CrossRef OMIM; 191315.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16592 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1861 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 581 Feature /change: M -> V Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID NTRK1_H598Y(1); standard; MUTATION; PK Accession K00067 Systematic name g.19192C>T, c.1792C>T, r.1792c>u, p.His598Tyr Original code K82 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) DB CrossRef OMIM; 191315.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19192 Feature /change: c -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1912 Feature /codon: cat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 598 Feature /change: H -> Y Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Possible polymorphism: Mardy, S. Comment -!- Miura, Y. Comment -!- Endo, F. Comment -!- Matsuda, I. Comment -!- Sztriha, L. Comment -!- Frossard, P. Comment -!- Moosa, A. Comment -!- Ismail, E. A. R. Comment -!- Macaya, A. Comment -!- Andria, G. Comment -!- Toscano, E. Comment -!- Gibson, W. Comment -!- Graham, G. E. Comment -!- Indo, Y. : Congenital insensitivity to pain with Comment -!-anhidrosis: novel mutations in the TRKA (NTRK1) gene Comment -!-encoding a high-affinity receptor for nerve growth factor. Comment -!-Am. J. Hum. Genet. 64: 1570-1579, 1999.PubMed ID : 10330344 // ID NTRK1_G708S(1); standard; MUTATION; PK Accession K00068 Systematic name g.20158G>A, c.2122G>A, r.2122g>a, p.Gly708Ser Original code K81 Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 20158 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2242 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 708 Feature /change: G -> S Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID NTRK1_G607V(1); standard; MUTATION; PK Accession K00069 Systematic name g.19220G>T, c.1820G>T, r.1820g>u, p.Gly607Val Original code K83 Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10330344 RefAuthors Mardy, S., Miura, Y., Endo, F., Matsuda, I., Sztriha, L., RefAuthors Frossard, P., Moosa, A., Ismail, E. A., Macaya, A., RefAuthors Andria, G., Toscano, E., Gibson, W., Graham, G. E., Indo, RefAuthors Y. RefTitle Congenital insensitivity to pain with anhidrosis: novel RefTitle mutations in the TRKA (NTRK1) gene encoding a high- RefTitle affinity receptor for nerve growth factor. RefLoc Am J Hum Genet 64:1570-1579 (1999) DB CrossRef OMIM; 191315.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19220 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1940 Feature /codon: ggt -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 607 Feature /change: G -> V Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Possible polymorphism: Mardy, S., Miura, Y., Endo, F., Comment -!-Matsuda, I., Sztriha, L., Frossard, P., Moosa, A., Ismail, Comment -!-E. A. R., Macaya, A., Andria, G., Toscano, E., Gibson, W., Comment -!-Graham, G. E., Indo, Y. : Congenital insensitivity to Comment -!-pain with anhidrosis: novel mutations in the TRKA (NTRK1) Comment -!-gene encoding a high-affinity receptor for nerve growth Comment -!-factor. Am. J. Hum. Genet. 64: 1570-1579, 1999.PubMed ID : Comment -!-10330344 // ID NTRK1_G571R(1); standard; MUTATION; PK Accession K00070 Systematic name g.16562G>C, c.1711G>C, r.1711g>c, p.Gly571Arg Original code K39 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8696348 RefAuthors Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, RefAuthors K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., RefAuthors Matsuda, I. RefTitle Mutations in the TRKA/NGF receptor gene in patients with RefTitle congenital insensitivity to pain with anhidrosis. RefLoc Nat Genet 13:485-488 (1996) DB CrossRef OMIM; 191315.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16562 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1831 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 571 Feature /change: G -> R Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_Y1230H(1); standard; MUTATION; PK Accession K00071 Systematic name g.111955T>C, c.3688T>C, r.3688u>c, p.Tyr1230His Original code K37 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111955 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3882 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1230 Feature /change: Y -> H Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: ; Patients: ; Homozygotes: 0 // ID MET_Y1230C(1); standard; MUTATION; PK Accession K00072 Systematic name g.111956A>G, c.3689A>G, r.3689a>g, p.Tyr1230Cys Original code K34 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111956 Feature /change: a -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3883 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1230 Feature /change: Y -> C Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_V1220I(1); standard; MUTATION; PK Accession K00073 Systematic name g.111925G>A, c.3658G>A, r.3658g>a, p.Val1220Ile Original code K32 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111925 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3852 Feature /codon: gtt -> att; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1220 Feature /change: V -> I Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_V1188L(1); standard; MUTATION; PK Accession K00074 Systematic name g.110623G>T, c.3562G>T, r.3562g>u, p.Val1188Leu Original code K31 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 110623 Feature /change: g -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3756 Feature /codon: gta -> tta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1188 Feature /change: V -> L Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_M1250T(1); standard; MUTATION; PK Accession K00075 Systematic name g.112016T>C, c.3749T>C, r.3749u>c, p.Met1250Thr Original code K38 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 112016 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3943 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1250 Feature /change: M -> T Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_M1131T(1); standard; MUTATION; PK Accession K00076 Systematic name g.107423T>C, c.3392T>C, r.3392u>c, p.Met1131Thr Original code K30 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 107423 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3586 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1131 Feature /change: M -> T Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_L1195V(1); standard; MUTATION; PK Accession K00077 Systematic name g.110644C>G, c.3583C>G, r.3583c>g, p.Leu1195Val Original code K35 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 110644 Feature /change: c -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3777 Feature /codon: ctt -> gtt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1195 Feature /change: L -> V Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_D1228N(1); standard; MUTATION; PK Accession K00078 Systematic name g.111949G>A, c.3682G>A, r.3682g>a, p.Asp1228Asn Original code K33 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) DB CrossRef OMIM; 164860.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111949 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3876 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1228 Feature /change: D -> N Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MET_D1228H(1); standard; MUTATION; PK Accession K00079 Systematic name g.111949G>C, c.3682G>C, r.3682g>c, p.Asp1228His Original code K36 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9140397 RefAuthors Schmidt, L., Duh, F. M., Chen, F., Kishida, T., Glenn, G., RefAuthors Choyke, P., Scherer, S. W., Zhuang, Z., Lubensky, I., RefAuthors Dean, M., Allikmets, R., Chidambaram, A., Bergerheim, U. RefAuthors R., Feltis, J. T., Casadevall, C., Zamarron, A., Bernues, RefAuthors M., Richard, S., Lips, C. J., Walther, M. M., Tsui, L. C., RefAuthors Geil, L., Orcutt, M. L., Stackhouse, T., Zbar, B. RefTitle Germline and somatic mutations in the tyrosine kinase RefTitle domain of the MET proto-oncogene in papillary renal RefTitle carcinomas. RefLoc Nat Genet 16:68-73 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111949 Feature /change: g -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3876 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1228 Feature /change: D -> H Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_#K642X648(1); standard; MUTATION; PK Accession K00080 Systematic name g.71041delA, c.1925delA, r.1925dela, p.Val643fsX1 Original code K26 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1370874 RefAuthors Spritz, R. A., Giebel, L. B., Holmes, S. A. RefTitle Dominant negative and loss of function mutations of the c- RefTitle kit (mast/stem cell growth factor receptor) proto-oncogene RefTitle in human piebaldism. RefLoc Am J Hum Genet 50:261-269 (1992) DB CrossRef OMIM; 164920.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71041 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1946 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> KSX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_H650P(1); standard; MUTATION; PK Accession K00081 Systematic name g.71065A>C, c.1949A>C, r.1949a>c, p.His650Pro Original code K23 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71065 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1970 Feature /codon: cac -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 650 Feature /change: H -> P Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_#H630X631(1); standard; MUTATION; PK Accession K00082 Systematic name g.71006delT, c.1890delT, r.1890delu, p.Leu631fsX0 Original code K27 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71006 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1911 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 630 Feature /change: H -> HX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_H630Q(1); standard; MUTATION; PK Accession K00083 Systematic name g.71006T>A, c.1890T>A, r.1890u>a, p.His630Gln Original code K22 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71006 Feature /change: t -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1911 Feature /codon: cat -> caa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 630 Feature /change: H -> Q Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_G664R(1); standard; MUTATION; PK Accession K00084 Systematic name g.71106G>A, c.1990G>A, r.1990g>a, p.Gly664Arg Original code K25 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1717985 RefAuthors Giebel, L. B., Spritz, R. A. RefTitle Mutation of the KIT (mast/stem cell growth factor RefTitle receptor) protooncogene in human piebaldism. RefLoc Proc Natl Acad Sci U S A 88:8696-8699 (1991) DB CrossRef OMIM; 164920.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71106 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2011 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 664 Feature /change: G -> R Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_E861A(1); standard; MUTATION; PK Accession K00085 Systematic name g.79580A>C, c.2582A>C, r.2582a>c, p.Glu861Ala Original code K24 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79580 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2603 Feature /codon: gag -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 861 Feature /change: E -> A Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_D820G(1); standard; MUTATION; PK Accession K00086 Systematic name g.76152A>G, c.2459A>G, r.2459a>g, p.Asp820Gly Original code K28 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9029028 RefAuthors Pignon, J. M., Giraudier, S., Duquesnoy, P., Jouault, H., RefAuthors Imbert, M., Vainchenker, W., Vernant, J. P., Tulliez, M. RefTitle A new c-kit mutation in a case of aggressive mast cell RefTitle disease. RefLoc Br J Haematol 96:374-376 (1997) RefNumber [23] RefCrossRef PUBMED; 20471335 RefAuthors Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., RefAuthors Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P. RefTitle High frequency of concomitant mastocytosis in patients RefTitle with acute myeloid leukemia exhibiting the transforming RefTitle KIT mutation D816V. RefLoc Mol Oncol 4:335-46 DB CrossRef OMIM; 164920.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76152 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2480 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 820 Feature /change: D -> G Feature /domain: PK Diagnosis Piepaldism Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_D816V(1); standard; MUTATION; PK Accession K00087 Systematic name g.76140A>T, c.2447A>T, r.2447a>u, p.Asp816Val Original code K29 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 7691885 RefAuthors Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, RefAuthors H., Koshimizu, U., Sugahara, H., Butterfield, J. H., RefAuthors Ashman, L. K., Kanayama, Y. RefTitle Identification of mutations in the coding sequence of the RefTitle proto-oncogene c-kit in a human mast cell leukemia cell RefTitle line causing ligand-independent activation of c-kit RefTitle product. RefLoc J Clin Invest 92:1736-1744 (1993) RefNumber [2] RefCrossRef PUBMED; 12890804 RefAuthors Horny, H. P., Lange, K., Sotlar, K., Valent, P. RefTitle Increase of bone marrow lymphocytes in systemic RefTitle mastocytosis: reactive lymphocytosis or malignant RefTitle lymphoma? immunohistochemical and molecular findings on RefTitle routinely processed bone marrow biopsy specimens. RefLoc J Clin Pathol 56:575-578 (2003) RefNumber [3] RefCrossRef PUBMED; 12860006 RefAuthors Pardanani, A., Reeder, T., Li, C. Y., Tefferi, A. RefTitle Eosinophils are derived from the neoplastic clone in RefTitle patients with systemic mastocytosis and eosinophilia. RefLoc Leuk Res 27:883-885 (2003) RefNumber [4] RefCrossRef PUBMED; 12842979 RefAuthors Pardanani, A., Ketterling, R. P., Brockman, S. R., Flynn, RefAuthors H. C., Paternoster, S. F., Shearer, B. M., Reeder, T. L., RefAuthors Li, C. Y., Cross, N. C., Cools, J., Gilliland, D. G., RefAuthors Dewald, G. W., Tefferi, A. RefTitle CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, RefTitle occurs in systemic mastocytosis associated with RefTitle eosinophilia and predicts response to imatinib mesylate RefTitle therapy. RefLoc Blood 102:3093-3096 (2003) RefNumber [5] RefCrossRef PUBMED; 12824871 RefAuthors Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, RefAuthors K. RefTitle Alterations of the c-kit gene in testicular germ cell RefTitle tumors. RefLoc Cancer Sci 94:486-491 (2003) RefNumber [6] RefCrossRef PUBMED; 12801532 RefAuthors Pardanani, A., Reeder, T. L., Kimlinger, T. K., Baek, J. RefAuthors Y., Li, C. Y., Butterfield, J. H., Tefferi, A. RefTitle Flt-3 and c-kit mutation studies in a spectrum of chronic RefTitle myeloid disorders including systemic mast cell disease. RefLoc Leuk Res 27:739-742 (2003) RefNumber [7] RefCrossRef PUBMED; 12701114 RefAuthors Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., RefAuthors Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, RefAuthors M., Brynes, R. K. RefTitle Systemic mastocytosis with associated clonal hematological RefTitle non-mast-cell lineage disease: analysis of RefTitle clinicopathologic features and activating c-kit mutations. RefLoc Am J Hematol 73:12-17 (2003) RefNumber [8] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) RefNumber [9] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) RefNumber [10] RefCrossRef PUBMED; 16384925 RefAuthors Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, RefAuthors F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., RefAuthors Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, RefAuthors F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, RefAuthors L., Morra, E. RefTitle Prognostic impact of c-KIT mutations in core binding RefTitle factor leukemias: an italian retrospective study. RefLoc Blood:3463-3468 (2006) RefNumber [31] RefCrossRef PUBMED; 19865100 RefAuthors Bodemer, C., Hermine, O., Palmerini, F., Yang, Y., RefAuthors Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., RefAuthors Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., RefAuthors Launay, J. M., Barete, S., Feger, F., Arock, M., Catteau, RefAuthors B., Sans, B., Stalder, J. F., Skowron, F., Thomas, L., RefAuthors Lorette, G., Plantin, P., Bordigoni, P., Lortholary, O., RefAuthors de Prost, Y., Moussy, A., Sobol, H., Dubreuil, P. RefTitle Pediatric mastocytosis is a clonal disease associated with RefTitle D816V and other activating c-KIT mutations. RefLoc J Invest Dermatol 130:804-15 RefNumber [35] RefCrossRef PUBMED; 21354053 RefAuthors Kristensen, T., Vestergaard, H., Moller, M. B. RefTitle Improved detection of the KIT D816V mutation in patients RefTitle with systemic mastocytosis using a quantitative and highly RefTitle sensitive real-time qPCR assay. RefLoc J Mol Diagn 13:180-8 DB CrossRef OMIM; 164920.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76140 Feature /change: a -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2468 Feature /codon: gac -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> V Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Diagnosis Germ cell tumor Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Acute myeloid leukemia Occurrence Families: 46; Patients: 49; Homozygotes: 0 Comment -!-Patiens with t(8;21) inversion // ID KIT_A621T(1); standard; MUTATION; PK Accession K00088 Systematic name g.70894G>A, c.1861G>A, r.1861g>a, p.Ala621Thr Original code K21 Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7529964 RefAuthors Ezoe, K., Holmes, S. A., Ho, L., Bennett, C. P., Bolognia, RefAuthors J. L., Brueton, L., Burn, J., Falabella, R., Gatto, E. M., RefAuthors Ishii, N. RefTitle Novel mutations and deletions of the KIT (steel factor RefTitle receptor) gene in human piebaldism. RefLoc Am J Hum Genet 56:58-66 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70894 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1882 Feature /codon: gct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 621 Feature /change: A -> T Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R411Q(1); standard; MUTATION; PK Accession K00089 Systematic name g.4745G>A, c.1232G>A, r.1232g>a, p.Arg411Gln Original code K59 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 14) RefNumber [1] RefCrossRef PUBMED; 8640225 RefAuthors Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. RefAuthors J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., RefAuthors Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., RefAuthors Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, RefAuthors M. E., Marchuk, D. A. RefTitle Mutations in the activin receptor-like kinase 1 gene in RefTitle hereditary haemorrhagic telangiectasia type 2. RefLoc Nat Genet 13:189-195 (1996) RefNumber [4] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [10] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 RefNumber [4] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [12] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [13] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [39] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 RefNumber [19] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [9] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 RefNumber [14] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 DB CrossRef OMIM; 601284.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4745 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1514 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 411 Feature /change: R -> Q Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 9; Patients: 22; Homozygotes: 0 // ID ACVRL1_R374W(1); standard; MUTATION; PK Accession K00090 Systematic name g.4633C>T, c.1120C>T, r.1120c>u, p.Arg374Trp Original code K56 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [2] RefCrossRef PUBMED; 11170071 RefAuthors Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., RefAuthors Rasmussen, K., Green, A., Vase, P. RefTitle Mutations in the ALK-1 gene and the phenotype of RefTitle hereditary hemorrhagic telangiectasia in two large danish RefTitle families. RefLoc Am J Med Genet 98:298-302 (2001) RefNumber [8] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 RefNumber [4] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-265 (2007) RefNumber [6] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [7] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [20] RefCrossRef PUBMED; 15065824 RefAuthors Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. RefAuthors M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. RefAuthors H. RefTitle Primary pulmonary hypertension in families with hereditary RefTitle haemorrhagic telangiectasia. RefLoc Eur Respir J 23:373-7 RefNumber [26] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 RefNumber [27] RefCrossRef PUBMED; 18285823 RefAuthors Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, RefAuthors F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, RefAuthors F., Calender, A., Danesino, C., Giraud, S., Plauchu, RefAuthors H., , . RefTitle Hereditary hemorrhagic telangiectasia: evidence for RefTitle regional founder effects of ACVRL1 mutations in French and RefTitle Italian patients. RefLoc Eur J Hum Genet 16:742-9 RefNumber [10] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 RefNumber [15] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 DB CrossRef OMIM; 601284.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4633 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1402 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 374 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 9; Patients: 16; Homozygotes: 0 // ID ACVRL1_P424T(1); standard; MUTATION; PK Accession K00091 Systematic name g.7534C>A, c.1270C>A, r.1270c>a, p.Pro424Thr Original code K57 Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [2] RefCrossRef PUBMED; 18159113 RefAuthors Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., RefAuthors Furutani, M., Imamura, S., Uehara, R., Nakayama, T., RefAuthors Takao, A., Nakazawa, M., Saji, T. RefTitle Implications of mutations of activin receptor-like kinase RefTitle 1 gene (ALK1) in addition to bone morphogenetic protein RefTitle receptor II gene (BMPR2) in children with pulmonary RefTitle arterial hypertension. RefLoc Circ J 72:127-33 RefNumber [18] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [4] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [6] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7534 Feature /change: c -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1552 Feature /codon: ccc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 424 Feature /change: P -> T Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 4; Patients: 4; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_M376R(1); standard; MUTATION; PK Accession K00092 Systematic name g.4640T>G, c.1127T>G, r.1127u>g, p.Met376Arg Original code K58 Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8640225 RefAuthors Johnson, D. W., Berg, J. N., Baldwin, M. A., Gallione, C. RefAuthors J., Marondel, I., Yoon, S. J., Stenzel, T. T., Speer, M., RefAuthors Pericak-Vance, M. A., Diamond, A., Guttmacher, A. E., RefAuthors Jackson, C. E., Attisano, L., Kucherlapati, R., Porteous, RefAuthors M. E., Marchuk, D. A. RefTitle Mutations in the activin receptor-like kinase 1 gene in RefTitle hereditary haemorrhagic telangiectasia type 2. RefLoc Nat Genet 13:189-195 (1996) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 DB CrossRef OMIM; 601284.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4640 Feature /change: t -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1409 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 376 Feature /change: M -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 8; Homozygotes: 0 // ID INSR_W1227S(1); standard; MUTATION; PK Accession K00093 Systematic name g.175329G>C, c.3680G>C, r.3680g>c, p.Trp1227Ser Original code K17 Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 2460770 RefAuthors Moller, D. E., Flier, J. S. RefTitle Detection of an alteration in the insulin-receptor gene in RefTitle a patient with insulin resistance, acanthosis nigricans, RefTitle and the polycystic ovary syndrome (type A insulin RefTitle resistance). RefLoc N Engl J Med 319:1526-1529 (1988) DB CrossRef OMIM; 147670.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 175329 Feature /change: g -> c Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3818 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1227 Feature /change: W -> S Feature /domain: PK Diagnosis Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_W1220L(1); standard; MUTATION; PK Accession K00094 Systematic name g.174272G>T, c.3659G>T, r.3659g>u, p.Trp1220Leu Original code K16 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7983039 RefAuthors Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, RefAuthors H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, RefAuthors Y. RefTitle Two naturally occurring mutations in the kinase domain of RefTitle insulin receptor accelerate degradation of the insulin RefTitle receptor and impair the kinase activity. RefLoc J Biol Chem 269:31019-31027 (1994) RefNumber [2] RefCrossRef PUBMED; 8390949 RefAuthors Iwanishi, M., Haruta, T., Takata, Y., Ishibashi, O., RefAuthors Sasaoka, T., Egawa, K., Imamura, T., Naitou, K., Itazu, RefAuthors T., Kobayashi, M. RefTitle A mutation (trp1193-->leu1193) in the tyrosine kinase RefTitle domain of the insulin receptor associated with type A RefTitle syndrome of insulin resistance. RefLoc Diabetologia 36:414-422 (1993) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174272 Feature /change: g -> t Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3797 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1220 Feature /change: W -> L Feature /domain: PK Diagnosis Insulin resistance, type A Occurrence Families: 3; Patients: 6; Homozygotes: 0 // ID INSR_R1201Q(1); standard; MUTATION; PK Accession K00095 Systematic name g.174215G>A, c.3602G>A, r.3602g>a, p.Arg1201Gln Original code K13 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8082780 RefAuthors Moritz, W., Froesch, E. R., Boni-Schnetzler, M. RefTitle Functional properties of a heterozygous mutation (arg1174-- RefTitle >gln) in the tyrosine kinase domain of the insulin RefTitle receptor from a type A insulin resistant patient. RefLoc FEBS Lett 351:276-280 (1994) RefNumber [2] RefCrossRef PUBMED; 8288049 RefAuthors Moller, D. E., Cohen, O., Yamaguchi, Y., Assiz, R., RefAuthors Grigorescu, F., Eberle, A., Morrow, L. A., Moses, A. C., RefAuthors Flier, J. S. RefTitle Prevalence of mutations in the insulin receptor gene in RefTitle subjects with features of the type A syndrome of insulin RefTitle resistance. RefLoc Diabetes 43:247-255 (1994) RefNumber [3] RefCrossRef PUBMED; 9703342 RefAuthors Whitehead, J. P., Soos, M. A., Jackson, R., Tasic, V., RefAuthors Kocova, M., O'Rahilly, S. RefTitle Multiple molecular mechanisms of insulin receptor RefTitle dysfunction in a patient with donohue syndrome. RefLoc Diabetes 47:1362-1364 (1998) DB CrossRef OMIM; 147670.0030 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174215 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3740 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1201 Feature /change: R -> Q Feature /domain: PK Diagnosis Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome Diagnosis Leprechaunism Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_R1191Q(1); standard; MUTATION; PK Accession K00096 Systematic name g.174185G>A, c.3572G>A, r.3572g>a, p.Arg1191Gln Original code K12 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 1607076 RefAuthors Cocozza, S., Porcellini, A., Riccardi, G., Monticelli, A., RefAuthors Condorelli, G., Ferrara, A., Pianese, L., Miele, C., RefAuthors Capaldo, B., Beguinot, F. RefTitle NIDDM associated with mutation in tyrosine kinase domain RefTitle of insulin receptor gene. RefLoc Diabetes 41:521-526 (1992) DB CrossRef OMIM; 147670.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174185 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3710 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1191 Feature /change: R -> Q Feature /domain: PK Diagnosis Noninsulin-dependent diabetes mellitus (NIDDM) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_R1158Q(1); standard; MUTATION; PK Accession K00097 Systematic name g.172222G>A, c.3473G>A, r.3473g>a, p.Arg1158Gln Original code K8 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7512563 RefAuthors Kishimoto, M., Hashiramoto, M., Yonezawa, K., Shii, K., RefAuthors Kazumi, T., Kasuga, M. RefTitle Substitution of glutamine for arginine 1131. A newly RefTitle identified mutation in the catalytic loop of the tyrosine RefTitle kinase domain of the human insulin receptor. RefLoc J Biol Chem 269:11349-11355 (1994) RefNumber [2] RefCrossRef PUBMED; 1470163 RefAuthors Kasuga, M., Kishimoto, M., Hashiramoto, M., Yonezawa, K., RefAuthors Kazumi, T., Hagino, H., Shii, K. RefTitle [insulin receptor arg1131-->gln: a novel mutation in the RefTitle catalytic loop of insulin receptor observed in insulin RefTitle resistant diabetes] RefLoc Nippon Geka Gakkai Zasshi 93:968-971 (1992) RefNumber [3] RefCrossRef PUBMED; 10443650 RefAuthors Longo, N., Wang, Y., Pasquali, M. RefTitle Progressive decline in insulin levels in rabson-mendenhall RefTitle syndrome. RefLoc J Clin Endocrinol Metab 84:2623-2629 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172222 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3611 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1158 Feature /change: R -> Q Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 2; Patients: 6; Homozygotes: 0 // ID INSR_P1205L(1); standard; MUTATION; PK Accession K00098 Systematic name g.174227C>T, c.3614C>T, r.3614c>u, p.Pro1205Leu Original code K14 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1563582 RefAuthors Kim, H., Kadowaki, H., Sakura, H., Odawara, M., Momomura, RefAuthors K., Takahashi, Y., Miyazaki, Y., Ohtani, T., Akanuma, Y., RefAuthors Yazaki, Y. RefTitle Detection of mutations in the insulin receptor gene in RefTitle patients with insulin resistance by analysis of single- RefTitle stranded conformational polymorphisms. RefLoc Diabetologia 35:261-266 (1992) RefNumber [2] RefCrossRef PUBMED; 8314008 RefAuthors Krook, A., Kumar, S., Laing, I., Boulton, A. J., Wass, J. RefAuthors A., O'Rahilly, S. RefTitle Molecular scanning of the insulin receptor gene in RefTitle syndromes of insulin resistance. RefLoc Diabetes 43:357-368 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174227 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3752 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1205 Feature /change: P -> L Feature /domain: PK Diagnosis Insulin resistance Diagnosis Insulin resistance, type A Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_M1180I(1); standard; MUTATION; PK Accession K00099 Systematic name g.174153G>A, c.3540G>A, r.3540g>a, p.Met1180Ile Original code K11 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 1890161 RefAuthors Cama, A., de la Luz Sierra, M., Ottini, L., Kadowaki, T., RefAuthors Gorden, P., Imperato-McGinley, J., Taylor, S. I. RefTitle A mutation in the tyrosine kinase domain of the insulin RefTitle receptor associated with insulin resistance in an obese RefTitle woman. RefLoc J Clin Endocrinol Metab 73:894-901 (1991) DB CrossRef OMIM; 147670.0031 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174153 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3678 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1180 Feature /change: M -> I Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_#M1136X1150(1); standard; MUTATION; PK Accession K00100 Systematic name g.172157delG, c.3408delG, r.3408delg, p.Met1136fsX14 Original code K18 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9299395 RefAuthors Kadowaki, H., Takahashi, Y., Ando, A., Momomura, K., RefAuthors Kaburagi, Y., Quin, J. D., MacCuish, A. C., Koda, N., RefAuthors Fukushima, Y., Taylor, S. I., Akanuma, Y., Yazaki, Y., RefAuthors Kadowaki, T. RefTitle Four mutant alleles of the insulin receptor gene RefTitle associated with genetic syndromes of extreme insulin RefTitle resistance. RefLoc Biochem Biophys Res Commun 237:516-520 (1997) RefNote NOTE!!: Article termination at +10, here calculated +13!!!! Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: INSR_DNA: 172157 Feature /change: -g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M10051; GI:33112647; M10051: 3546 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: INSR_HUMAN: 1136 Feature /change: M -> IFRWRQRLLT GWPTX Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_K1095E(1); standard; MUTATION; PK Accession K00101 Systematic name g.171927A>G, c.3283A>G, r.3283a>g, p.Lys1095Glu Original code K7 Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 2040394 RefAuthors O'Rahilly, S., Choi, W. H., Patel, P., Turner, R. C., RefAuthors Flier, J. S., Moller, D. E. RefTitle Detection of mutations in insulin-receptor gene in NIDDM RefTitle patients by analysis of single-stranded conformation RefTitle polymorphisms. RefLoc Diabetes 40:777-782 (1991) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 171927 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3421 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1095 Feature /change: K -> E Feature /domain: PK Diagnosis Noninsulin-dependent diabetes mellitus (NIDDM) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID INSR_E1206D(1); standard; MUTATION; PK Accession K00102 Systematic name g.174231G>C, c.3618G>C, r.3618g>c, p.Glu1206Asp Original code K15 Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7983039 RefAuthors Imamura, T., Takata, Y., Sasaoka, T., Takada, Y., Morioka, RefAuthors H., Haruta, T., Sawa, T., Iwanishi, M., Hu, Y. G., Suzuki, RefAuthors Y. RefTitle Two naturally occurring mutations in the kinase domain of RefTitle insulin receptor accelerate degradation of the insulin RefTitle receptor and impair the kinase activity. RefLoc J Biol Chem 269:31019-31027 (1994) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174231 Feature /change: g -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3756 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1206 Feature /change: E -> D Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID INSR_A1162E(1); standard; MUTATION; PK Accession K00103 Systematic name g.172234C>A, c.3485C>A, r.3485c>a, p.Ala1162Glu Original code K10 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 1890161 RefAuthors Cama, A., de la Luz Sierra, M., Ottini, L., Kadowaki, T., RefAuthors Gorden, P., Imperato-McGinley, J., Taylor, S. I. RefTitle A mutation in the tyrosine kinase domain of the insulin RefTitle receptor associated with insulin resistance in an obese RefTitle woman. RefLoc J Clin Endocrinol Metab 73:894-901 (1991) RefNumber [2] RefCrossRef PUBMED; 8096518 RefAuthors Cama, A., de la Luz Sierra, M., Quon, M. J., Ottini, L., RefAuthors Gorden, P., Taylor, S. I. RefTitle Substitution of glutamic acid for alanine 1135 in the RefTitle putative 'catalytic loop' of the tyrosine kinase domain of RefTitle the human insulin receptor. A mutation that impairs RefTitle proteolytic processing into subunits and inhibits receptor RefTitle tyrosine kinase activity. RefLoc J Biol Chem 268:8060-8069 (1993) DB CrossRef OMIM; 147670.0026 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172234 Feature /change: c -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3623 Feature /codon: gcg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1162 Feature /change: A -> E Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_A1161T(1); standard; MUTATION; PK Accession K00104 Systematic name g.172230G>A, c.3481G>A, r.3481g>a, p.Ala1161Thr Original code K9 Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 2168397 RefAuthors Moller, D. E., Yokota, A., White, M. F., Pazianos, A. G., RefAuthors Flier, J. S. RefTitle A naturally occurring mutation of insulin receptor alanine RefTitle 1134 impairs tyrosine kinase function and is associated RefTitle with dominantly inherited insulin resistance. RefLoc J Biol Chem 265:14979-14985 (1990) DB CrossRef OMIM; 147670.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172230 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3619 Feature /codon: gca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1161 Feature /change: A -> T Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID INSR_A1075D(1); standard; MUTATION; PK Accession K00105 Systematic name g.169575C>A, c.3224C>A, r.3224c>a, p.Ala1075Asp Original code K6 Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8243830 RefAuthors Haruta, T., Takata, Y., Iwanishi, M., Maegawa, H., RefAuthors Imamura, T., Egawa, K., Itazu, T., Kobayashi, M. RefTitle Ala1048-->asp mutation in the kinase domain of insulin RefTitle receptor causes defective kinase activity and insulin RefTitle resistance. RefLoc Diabetes 42:1837-1844 (1993) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169575 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3362 Feature /codon: gcc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1075 Feature /change: A -> D Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_N540T(1); standard; MUTATION; PK Accession K00106 Systematic name g.12748A>C, c.1619A>C, r.1619a>c, p.Asn540Thr Original code K1 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9452043 RefAuthors Deutz-Terlouw, P. P., Losekoot, M., Aalfs, C. M., RefAuthors Hennekam, R. C., Bakker, E. RefTitle Asn540Thr substitution in the fibroblast growth factor RefTitle receptor 3 tyrosine kinase domain causing RefTitle hypochondroplasia. RefLoc Hum Mutat Suppl 1:S62-65 (1998) DB CrossRef OMIM; 134934.0018 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12748 Feature /change: a -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1658 Feature /codon: aac -> acc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> T Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_N540K(1); standard; MUTATION; PK Accession K00107 Systematic name g.12749C>G, c.1620C>G, r.1620c>g, p.Asn540Lys Original code K3 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 8589686 RefAuthors Prinos, P., Costa, T., Sommer, A., Kilpatrick, M. W., RefAuthors Tsipouras, P. RefTitle A common FGFR3 gene mutation in hypochondroplasia. RefLoc Hum Mol Genet 4:2097-2101 (1995) RefNumber [2] RefCrossRef PUBMED; 8880574 RefAuthors Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, RefAuthors H., Weissenbach, J., Maroteaux, P., Munnich, A., Le RefAuthors Merrer, M. RefTitle Clinical and genetic heterogeneity of hypochondroplasia. RefLoc J Med Genet 33:749-752 (1996) RefNumber [3] RefCrossRef PUBMED; 14755409 RefAuthors Kataoka, S., Sawai, H., Yamada, H., Kanazawa, N., Koyama, RefAuthors K., Nishimura, G., Morikawa, M., Sakuragi, N., Minakami, RefAuthors H. RefTitle Radiographic and genetic diagnosis of sporadic RefTitle hypochondroplasia early in the neonatal period. RefLoc Prenat Diagn 24:45-49 (2004) RefNumber [41] RefCrossRef PUBMED; 17621485 RefAuthors Kannu, P., Aftimos, S. RefTitle FGFR3 mutations and medial temporal lobe dysgenesis. RefLoc J Child Neurol 22:211-3 DB CrossRef OMIM; 134934.0012 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12749 Feature /change: c -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1659 Feature /codon: aac -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> K Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID FGFR3_N540K(2); standard; MUTATION; PK Accession K00108 Systematic name g.12749C>A, c.1620C>A, r.1620c>a, p.Asn540Lys Original code K2 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 7670477 RefAuthors Bellus, G. A., McIntosh, I., Smith, E. A., Aylsworth, A. RefAuthors S., Kaitila, I., Horton, W. A., Greenhaw, G. A., Hecht, J. RefAuthors T., Francomano, C. A. RefTitle A recurrent mutation in the tyrosine kinase domain of RefTitle fibroblast growth factor receptor 3 causes RefTitle hypochondroplasia. RefLoc Nat Genet 10:357-359 (1995) RefNumber [2] RefCrossRef PUBMED; 8880574 RefAuthors Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Schmidt, RefAuthors H., Weissenbach, J., Maroteaux, P., Munnich, A., Le RefAuthors Merrer, M. RefTitle Clinical and genetic heterogeneity of hypochondroplasia. RefLoc J Med Genet 33:749-752 (1996) RefNumber [45] RefCrossRef PUBMED; 19449430 RefAuthors Pannier, S., Martinovic, J., Heuertz, S., Delezoide, A. RefAuthors L., Munnich, A., Schibler, L., Serre, V., Legeai-Mallet, RefAuthors L. RefTitle Thanatophoric dysplasia caused by double missense FGFR3 RefTitle mutations. RefLoc Am J Med Genet A 149A:1296-301 DB CrossRef OMIM; 134934.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12749 Feature /change: c -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1659 Feature /codon: aac -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> K Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Thanatophoric dysplasia (TD) Occurrence Families: 22; Patients: 22; Homozygotes: 0 // ID FGFR3_K650M(1); standard; MUTATION; PK Accession K00109 Systematic name g.13268A>T, c.1949A>T, r.1949a>u, p.Lys650Met Original code K5 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 8829353 RefAuthors Francomano, C. A., Bellus, G. A., Szabo, J., Mcintosh, I., RefAuthors Dorst, J., Lee, R., Hurko, O., Fraley, A. E., Bamshad, M. J. RefTitle A new sceletal dysplasia with severe tibial bowing, RefTitle profound developmental delay and acanthosis nigricans is RefTitle caused by a lys 650 met mutation in fibroblast growth RefTitle factor receptor 3 (FGFR3) RefLoc The american society of human genetics 46th annual RefLoc meeting, san francisco, california, october 29-november 2, RefLoc 1996. abstracts. RefLoc Am J Hum Genet 59:(4 Suppl):A25 (1996) RefNumber [2] RefCrossRef PUBMED; 12743143 RefAuthors van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., RefAuthors Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., RefAuthors Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C. RefTitle Molecular grading of urothelial cell carcinoma with RefTitle fibroblast growth factor receptor 3 and MIB-1 is superior RefTitle to pathologic grade for the prediction of clinical RefTitle outcome. RefLoc J Clin Oncol 21:1912-1921 (2003) RefNumber [3] RefCrossRef PUBMED; 10671061 RefAuthors Kitoh, H., Brodie, S. G., Kupke, K. G., Lachman, R. S., RefAuthors Wilcox, W. R. RefTitle Lys650Met substitution in the tyrosine kinase domain of RefTitle the fibroblast growth factor receptor gene causes RefTitle thanatophoric dysplasia type I. mutations in brief no. RefTitle 199. online. RefLoc Hum Mutat 12:362-363 (1998) RefNumber [38] RefCrossRef PUBMED; 17392824 RefAuthors Hafner, C., Hartmann, A., Real, F. X., Hofstaedter, F., RefAuthors Landthaler, M., Vogt, T. RefTitle Spectrum of FGFR3 mutations in multiple intraindividual RefTitle seborrheic keratoses. RefLoc J Invest Dermatol 127:1883-5 DB CrossRef OMIM; 134934.0015 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13268 Feature /change: a -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1988 Feature /codon: aag -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> M Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Thanatophoric dysplasia (TD) Diagnosis Occurrence Families: 7; Patients: 7; Homozygotes: 0 Comment -!-Seborrheic Keratoses // ID FGFR3_K650E(1); standard; MUTATION; PK Accession K00110 Systematic name g.13267A>G, c.1948A>G, r.1948a>g, p.Lys650Glu Original code K4 Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 05-Apr-2004 (Rel. 2, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 7773297 RefAuthors Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y. Z., RefAuthors Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. RefAuthors L., Cohn, D. H., Wasmuth, J. J. RefTitle Thanatophoric dysplasia (types I and II) caused by RefTitle distinct mutations in fibroblast growth factor receptor 3. RefLoc Nat Genet 9:321-328 (1995) RefNumber [2] RefCrossRef PUBMED; 12743143 RefAuthors van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., RefAuthors Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., RefAuthors Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C. RefTitle Molecular grading of urothelial cell carcinoma with RefTitle fibroblast growth factor receptor 3 and MIB-1 is superior RefTitle to pathologic grade for the prediction of clinical RefTitle outcome. RefLoc J Clin Oncol 21:1912-1921 (2003) RefNumber [3] RefCrossRef PUBMED; 10471491 RefAuthors Cappellen, D., De Oliveira, C., Ricol, D., de Medina, S., RefAuthors Bourdin, J., Sastre-Garau, X., Chopin, D., Thiery, J. P., RefAuthors Radvanyi, F. RefTitle Frequent activating mutations of FGFR3 in human bladder RefTitle and cervix carcinomas. RefLoc Nat Genet 23:18-20 (1999) RefNumber [4] RefCrossRef PUBMED; 14751560 RefAuthors Legeai-Mallet, L., Benoist-Lasselin, C., Munnich, A., RefAuthors Bonaventure, J. RefTitle Overexpression of FGFR3, stat1, stat5 and p21Cip1 RefTitle correlates with phenotypic severity and defective RefTitle chondrocyte differentiation in FGFR3-related RefTitle chondrodysplasias. RefLoc Bone 34:26-36 (2004) DB CrossRef OMIM; 134934.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13267 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1987 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> E Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Hypochondroplasia Diagnosis Thanatophoric dysplasia (TD) Occurrence Families: 25; Patients: 25; Homozygotes: 0 // ID FGFR3_I538V(1); standard; MUTATION; PK Accession K00111 Systematic name g.12741A>G, c.1612A>G, r.1612a>g, p.Ile538Val Original code K84 Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10215410 RefAuthors Grigelioniene, G., Hagenas, L., Eklof, O., Neumeyer, L., RefAuthors Haereid, P. E., Anvret, M. RefTitle A novel missense mutation Ile538Val in the fibroblast RefTitle growth factor receptor 3 in hypochondroplasia. RefLoc Human Mutation, Mutation in brief #122 (1997) Online RefLoc Hum Mutat 11:333 (1998) DB CrossRef OMIM; 134934.0019 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12741 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1651 Feature /codon: atc -> gtc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 538 Feature /change: I -> V Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID CDK4_R24H(1); standard; MUTATION; PK Accession K00112 Systematic name g.1072G>A, c.71G>A, r.71g>a, p.Arg24His Original code K86 Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 9425228 RefAuthors Soufir, N., Avril, M. F., Chompret, A., Demenais, F., RefAuthors Bombled, J., Spatz, A., Stoppa-Lyonnet, D., Benard, J., RefAuthors Bressac-de Paillerets, B. RefTitle Prevalence of p16 and CDK4 germline mutations in 48 RefTitle melanoma-prone families in france. the french familial RefTitle melanoma study group. RefLoc Hum Mol Genet 7:209-216 (1998) DB CrossRef OMIM; 123829.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CDK4_DNA: 1072 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M14505; GI:1168867; HSPSKC: 298 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDK4_HUMAN: 24 Feature /change: R -> H Feature /domain: PK Diagnosis Melanoma Occurrence Families: 4; Patients: 32; Homozygotes: 0 Comment -!-Patients also have a heterozygous G1193C substitution in Comment -!-the EDNRB gene resulting in R319P. // ID CDK4_R24C(1); standard; MUTATION; PK Accession K00113 Systematic name g.1071C>T, c.70C>T, r.70c>u, p.Arg24Cys Original code K60 Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8528263 RefAuthors Zuo, L., Weger, J., Yang, Q., Goldstein, A. M., Tucker, M. RefAuthors A., Walker, G. J., Hayward, N., Dracopoli, N. C. RefTitle Germline mutations in the p16INK4a binding domain of CDK4 RefTitle in familial melanoma. RefLoc Nat Genet 12:97-99 (1996) RefNumber [2] RefCrossRef PUBMED; 7652577 RefAuthors Wolfel, T., Hauer, M., Schneider, J., Serrano, M., Wolfel, RefAuthors C., Klehmann-Hieb, E., De Plaen, E., Hankeln, T., Meyer RefAuthors zum Buschenfelde, K. H., Beach, D. RefTitle A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T RefTitle lymphocytes in a human melanoma. RefLoc Science 269:1281-1284 (1995) DB CrossRef OMIM; 123829.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CDK4_DNA: 1071 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M14505; GI:1168867; HSPSKC: 297 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDK4_HUMAN: 24 Feature /change: R -> C Feature /domain: PK Diagnosis Melanoma Occurrence Families: 13; Patients: 13; Homozygotes: 0 // ID CDK4_N41S(1); standard; MUTATION; PK Accession K00114 Systematic name g.1123A>G, c.122A>G, r.122a>g, p.Asn41Ser Original code K85 Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9311594 RefAuthors Guldberg, P., Kirkin, A. F., Gronbaek, K., thor Straten, RefAuthors P., Ahrenkiel, V., Zeuthen, J. RefTitle Complete scanning of the CDK4 gene by denaturing gradient RefTitle gel electrophoresis: a novel missense mutation but low RefTitle overall frequency of mutations in sporadic metastatic RefTitle malignant melanoma. RefLoc Int J Cancer 72:780-783 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CDK4_DNA: 1123 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M14505; GI:1168867; HSPSKC: 349 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDK4_HUMAN: 41 Feature /change: N -> S Feature /domain: PK Diagnosis Melanoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ZAP70_S518R(1); standard; MUTATION; TK Accession K00115 Systematic name g.14792C>A, c.1554C>A, r.1554c>a, p.Ser518Arg Description A point mutation in the exon 10 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8202713 RefAuthors Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A. RefAuthors H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A. RefTitle ZAP-70 deficiency in an autosomal recessive form of severe RefTitle combined immunodeficiency. RefLoc Science 264:1599-1601 (1994) RefNumber [2] RefCrossRef PUBMED; 9245543 RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., RefAuthors Kubo, R., Hayward, A., Gelfand, E. W. RefTitle Phenotypic features of selective T cell deficiency RefTitle characterized by absence of CD8+ T lymphocytes and RefTitle undetectable mRNA for ZAP-70 kinase. RefLoc Clin Immunol Immunopathol 84:129-138 (1997) DB CrossRef OMIM; 176947.0002 DB CrossRef OMIM; 176947.0003 DB CrossRef ZAP70base; Z0009 DB CrossRef ZAP70base; Z0010 DB CrossRef ZAP70base; Z0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14792 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1763 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 518 Feature /change: S -> R Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ZAP70_K542K(1); standard; MUTATION; TK Accession K00116 Systematic name g.14959G>A, c.1624G>A, r.1624g>a, p.Lys542Lys Description A point mutation in the exon 11 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14959 Feature /change: a -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1833 Feature /codon: aag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 542 Feature /change: K -> K Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ZAP70_A507V(1); standard; MUTATION; TK Accession K00117 Systematic name g.14758C>T, c.1520C>T, r.1520c>u, p.Ala507Val Description A point mutation in the exon 10 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 10748099 RefAuthors Noraz, N., Schwarz, K., Steinberg, M., Dardalhon, V., RefAuthors Rebouissou, C., Hipskind, R., Friedrich, W., Yssel, H., RefAuthors Bacon, K., Taylor, N. RefTitle Alternative antigen receptor (TCR) signaling in T cells RefTitle derived from ZAP-70-deficient patients expressing high RefTitle levels of syk. RefLoc J Biol Chem 275:15832-15838 (2000) RefNumber [2] RefCrossRef PUBMED; 10574909 RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., RefAuthors Katamura, K., Koyasu, S. RefTitle Temperature-sensitive ZAP70 mutants degrading through a RefTitle proteasome-independent pathway. restoration of a kinase RefTitle domain mutant by cdc37. RefLoc J Biol Chem 274:34515-34518 (1999) DB CrossRef ZAP70base; Z0014 DB CrossRef ZAP70base; Z0013 DB CrossRef ZAP70base; Z0008 DB CrossRef ZAP70base; Z0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14758 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1729 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 507 Feature /change: A -> V Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 2; Patients: 4; Homozygotes: 4 // ID ZAP70_M572L(1); standard; MUTATION; TK Accession K00118 Systematic name g.15049A>T, c.1714A>T, r.1714a>u, p.Met572Leu Description A point mutation in the exon 11 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10574909 RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H., RefAuthors Katamura, K., Koyasu, S. RefTitle Temperature-sensitive ZAP70 mutants degrading through a RefTitle proteasome-independent pathway. restoration of a kinase RefTitle domain mutant by cdc37. RefLoc J Biol Chem 274:34515-34518 (1999) DB CrossRef ZAP70base; Z0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 15049 Feature /change: a -> t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1923 Feature /codon: atg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 572 Feature /change: M -> L Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ZAP70_#K504X539(1); standard; MUTATION; TK Accession K00119 Systematic name g.14748delA, c.1510delA, r.1510dela, p.Lys504fsX39 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11034358 RefAuthors Meinl, E., Lengenfelder, D., Blank, N., Pirzer, R., RefAuthors Barata, L., Hivroz, C. RefTitle Differential requirement of ZAP-70 for CD2-mediated RefTitle activation pathways of mature human T cells. RefLoc J Immunol 165:3578-3583 (2000) RefNumber [2] RefCrossRef PUBMED; 8202712 RefAuthors Elder, M. E., Lin, D., Clever, J., Chan, A. C., Hope, T. RefAuthors J., Weiss, A., Parslow, T. G. RefTitle Human severe combined immunodeficiency due to a defect in RefTitle ZAP-70, a T cell tyrosine kinase. RefLoc Science 264:1596-1599 (1994) RefNumber [3] RefCrossRef PUBMED; 7671314 RefAuthors Elder, M. E., Hope, T. J., Parslow, T. G., Umetsu, D. T., RefAuthors Wara, D. W., Cowan, M. J. RefTitle Severe combined immunodeficiency with absence of RefTitle peripheral blood CD8+ T cells due to ZAP-70 deficiency. RefLoc Cell Immunol 165:110-117 (1995) RefNumber [4] RefCrossRef PUBMED; 8726223 RefAuthors Elder, M. E. RefTitle Severe combined immunodeficiency due to a defect in the RefTitle tyrosine kinase ZAP-70. RefLoc Pediatr Res 39:743-748 (1996) RefNumber [5] RefCrossRef PUBMED; 9245543 RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R., RefAuthors Kubo, R., Hayward, A., Gelfand, E. W. RefTitle Phenotypic features of selective T cell deficiency RefTitle characterized by absence of CD8+ T lymphocytes and RefTitle undetectable mRNA for ZAP-70 kinase. RefLoc Clin Immunol Immunopathol 84:129-138 (1997) DB CrossRef ZAP70base; Z0011 DB CrossRef OMIM; 176947.0004 DB CrossRef ZAP70base; Z0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ZAP70_DNA: 14748 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: L05148; GI:1177044; L05148: 1719 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ZAP70_HUMAN: 504 Feature /change: K -> SGTHPNASTS ASSPAAAMSG AMGSPCGRPC PTARSPTRRX Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID ZAP70_R465C(1); standard; MUTATION; TK Accession K00121 Systematic name g.14540C>T, c.1393C>T, r.1393c>u, p.Arg465Cys Description A point mutation in the exon 9 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11123350 RefAuthors Elder, M. E., Skoda-Smith, S., Kadlecek, T. A., Wang, F., RefAuthors Wu, J., Weiss, A. RefTitle Distinct T cell developmental consequences in humans and RefTitle mice expressing identical mutations in the DLAARN motif of RefTitle ZAP-70. RefLoc J Immunol 166:656-661 (2001) DB CrossRef ZAP70base; Z0012 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ZAP70_DNA: 14540 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L05148; GI:1177044; L05148: 1602 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ZAP70_HUMAN: 465 Feature /change: R -> C Feature /domain: TK Diagnosis T-B- severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID BTK_T606P(1); standard; MUTATION; TK Accession K00122 Systematic name g.68190A>C, c.1816A>C, r.1816a>c, p.Thr606Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0593 DB CrossRef BTKbase; A0593 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68190 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1948 Feature /codon: act -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 606 Feature /change: T -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // // // ID BTK_L542P(1); standard; MUTATION; TK Accession K00126 Systematic name g.66839T>C, c.1625T>C, r.1625u>c, p.Leu542Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef BTKbase; A0896 DB CrossRef BTKbase; A0897 DB CrossRef OMIM; 300300.0040 DB CrossRef SWISSCHANGE; BTK_HUMAN_50 DB CrossRef SWISS-PROT; Q06187:542_542 DB CrossRef BTKbase; A0095 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66839 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1757 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 542 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Substrate binding Protein struct ref [2] // // ID BTK_L648P(1); standard; MUTATION; TK Accession K00128 Systematic name g.71555T>C, c.1943T>C, r.1943u>c, p.Leu648Pro Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0745 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71555 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2075 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 648 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_R520Q(1); standard; MUTATION; TK Accession K00129 Systematic name g.65416G>A, c.1559G>A, r.1559g>a, p.Arg520Gln Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 20) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) RefNumber [5] RefCrossRef PUBMED; 7633429 RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J., RefAuthors Kinnon, C. RefTitle Mutation analysis in Bruton's tyrosine kinase, the X- RefTitle linked agammaglobulinemia, including identification of an RefTitle insertional hotspot RefLoc Hum. Molec. Genet. 4: 755-757(1995) RefNumber [7] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef BTKbase; A0889 DB CrossRef SWISSCHANGE; BTK_HUMAN_44 DB CrossRef SWISS-PROT; Q06187:520_520 DB CrossRef BTKbase; A0093 DB CrossRef OMIM; 300300.0037 DB CrossRef BTKbase; A0073 DB CrossRef BTKbase; A0436 DB CrossRef BTKbase; A0890 DB CrossRef BTKbase; A0196 DB CrossRef BTKbase; A0155 DB CrossRef BTKbase; A0891 DB CrossRef BTKbase; A0892 DB CrossRef BTKbase; A0195 DB CrossRef BTKbase; A0092 DB CrossRef BTKbase; A0058 DB CrossRef BTKbase; A0290 DB CrossRef BTKbase; A0435 DB CrossRef BTKbase; A1297 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65416 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1691 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 Feature /change: R -> Q Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 16; Patients: 20; Homozygotes: 0 Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [1] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] Protein struct Affects phosphotyrosine binding; ref [2] // ID BTK_#V561X569(1); standard; MUTATION; TK Accession K00132 Systematic name g.67537T>A, c.1682T>A, r.1682u>a, p.Val561Asp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8634718 RefAuthors Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., RefAuthors Webster, A. D. B., Smith, C. I. E. RefTitle Improved oligonucleotide primer set for molecular RefTitle diagnosis of X-linked agammaglobulinemia: predominance of RefTitle amino acid substitutions in the catalytic domain of RefTitle Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 4:2403-2405(1995) DB CrossRef BTKbase; A0205 DB CrossRef BTKbase; A0205 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67537 Feature /change: t -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1814 Feature /codon: gtc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 561 Feature /change: V -> D Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_Q459X(1); standard; MUTATION; TK Accession K00133 Systematic name g.65232C>T, c.1375C>T, r.1375c>u, p.Gln459X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0311 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65232 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1507 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 459 Feature /change: Q -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E636X(1); standard; MUTATION; TK Accession K00134 Systematic name g.68280G>T, c.1906G>T, r.1906g>u, p.Glu636X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8162056 RefAuthors Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, RefAuthors A.M., Morgan, G., Levinsky, R.J., Kinnon, C. RefTitle Mutation detection in the X-linked agammaglobulinemia RefTitle gene, BTK, using single strand conformation polymorphism RefTitle analysis RefLoc Hum. Molec. Genet. 3:79-83(1994) DB CrossRef OMIM; 300300.0049 DB CrossRef BTKbase; A0019 DB CrossRef BTKbase; A0021 DB CrossRef BTKbase; A0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68280 Feature /change: g -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2038 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 636 Feature /change: E -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_K558X(1); standard; MUTATION; TK Accession K00135 Systematic name g.67527A>T, c.1672A>T, r.1672a>u, p.Lys558X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (03-Sep-1996) to the BTKbase. RefLoc Ph.D. Sau-Ping Kwan; e-mail spkwan@rush.edu DB CrossRef BTKbase; A0346 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67527 Feature /change: a -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1804 Feature /codon: aaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 558 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // // ID BTK_G584R(1); standard; MUTATION; TK Accession K00137 Systematic name g.67605G>A, c.1750G>A, r.1750g>a, p.Gly584Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0767 DB CrossRef BTKbase; A0768 DB CrossRef BTKbase; A0551 DB CrossRef BTKbase; A0768 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67605 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1882 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 Feature /change: G -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 4; Homozygotes: 0 // // ID BTK_R525Q(1); standard; MUTATION; TK Accession K00139 Systematic name g.66788G>A, c.1574G>A, r.1574g>a, p.Arg525Gln Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 14) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [5] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [6] RefCrossRef PUBMED; 8380905 RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J., RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C., RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R. RefTitle The gene involved in X-linked agammaglobulinemia is RefTitle a member of the src family of protein-tyrosine kinases RefLoc Nature 361:226-233(1993) RefNumber [7] RefCrossRef PUBMED; 8283037 RefAuthors Smith, C. I. E., Baskin, B., Humire-Greiff, P., Zhou RefAuthors J. N., Olsson, P. G., Maniar, H. S., Kjellen, P., RefAuthors Lambris, J. d., Christensson, B., Hammarstrom, L., Bentley, RefAuthors D., Vetrie, D., Islam, K. B., Vorechovsky, I., Sideras, P. RefTitle Expression of Bruton's agammaglobulinemia tyrosine kinase RefTitle gene, BTK, is selectively down-regulated in the T- RefTitle lymphocytes and plasma cells RefLoc J. Immunol. 152:557-565(1994) RefNumber [8] RefCrossRef PUBMED; 8090769 RefAuthors Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson, RefAuthors R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good, RefAuthors R. A., Litman, G. W. RefTitle Genomic organization and structure of Bruton RefTitle agammaglobulinemia tyrosine kinase: Localization of RefTitle mutations associated with varied clinical presentations RefTitle and cource in X chromosome-linked agammaglobulinemia RefLoc Proc. Natl. Acad. Sci. 91:9062-9066(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_48 DB CrossRef SWISS-PROT; Q06187:525_525 DB CrossRef BTKbase; A0384 DB CrossRef BTKbase; A0051 DB CrossRef OMIM; 300300.0001 DB CrossRef BTKbase; A0002 DB CrossRef BTKbase; A0050 DB CrossRef BTKbase; A0049 DB CrossRef BTKbase; A0035 DB CrossRef ESID; SE 0542 M78 G1 DB CrossRef BTKbase; A0001 DB CrossRef BTKbase; A0034 DB CrossRef BTKbase; A0036 DB CrossRef BTKbase; A0052 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66788 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1706 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> Q Feature /domain: TK Diagnosis Moderate XLA Diagnosis Classical XLA Diagnosis Occurrence Families: 6; Patients: 14; Homozygotes: 0 Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [3] Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] // ID BTK_Y511X(1); standard; MUTATION; TK Accession K00140 Systematic name g.65390C>A, c.1533C>A, r.1533c>a, p.Tyr511X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0134 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65390 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1665 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 511 Feature /change: Y -> X Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // // ID BTK_G584W(1); standard; MUTATION; TK Accession K00142 Systematic name g.67605G>T, c.1750G>T, r.1750g>u, p.Gly584Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0757 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67605 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1882 Feature /codon: ggg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 Feature /change: G -> W Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G462D(1); standard; MUTATION; TK Accession K00143 Systematic name g.65242G>A, c.1385G>A, r.1385g>a, p.Gly462Asp Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk RefNumber [2] RefCrossRef PUBMED; 12768435 RefAuthors Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. RefAuthors H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, RefAuthors S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T. RefTitle Identification of mutations in the bruton's tyrosine RefTitle kinase gene, including a novel genomic rearrangements RefTitle resulting in large deletion, in korean X-linked RefTitle agammaglobulinemia patients. RefLoc J. Hum. Genet. 48:322-326 (2003) DB CrossRef BTKbase; A0431 DB CrossRef BTKbase; A0915 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65242 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1517 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 462 Feature /change: G -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_L460X(1); standard; MUTATION; TK Accession K00144 Systematic name g.65236T>A, c.1379T>A, r.1379u>a, p.Leu460X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Submitted (30-May-1996) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minigichi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk in patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am. J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0293 DB CrossRef BTKbase; A0499 DB CrossRef BTKbase; A0293 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65236 Feature /change: t -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1511 Feature /codon: ttg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 460 Feature /change: L -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_Y598D(1); standard; MUTATION; TK Accession K00145 Systematic name g.68166T>G, c.1792T>G, r.1792u>g, p.Tyr598Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10887125 RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M., RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, RefAuthors K., Kishimoto, T., Miyawaki, T. RefTitle Genetic defect in human X-linked agammaglobulinemia RefTitle impedes a maturational evolution of pro-B cells into a RefTitle later stage of pre-B cells in the B-cell differentiation RefTitle pathway RefLoc Blood 96:610-617(2000) DB CrossRef BTKbase; A0722 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68166 Feature /change: t -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1924 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 598 Feature /change: Y -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_S604X(1); standard; MUTATION; TK Accession K00146 Systematic name g.68184delA, c.1810delA, r.1810dela, p.Ser604fsX44 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11686883 RefAuthors Usui, K., Sasahara, Y., Tazawa, R., Hagiwara, K., Tsukada, RefAuthors S., Miyawaki, T., Tsuchiya, S., Nukiwa, T. RefTitle Recurrent pneumonia with mild hypogammaglobulinemia RefTitle diagnosed as X-linked agammaglobulinemia in adults. RefLoc Respir. Res. 2:188-192 (2001) DB CrossRef BTKbase; A0862 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68184 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1942 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 604 Feature /change: S -> Feature /change: VRLLNTLPKA YVSTGLIWLQ RRYIPSCTVV GMRKQMSVPL SKFFX Feature /domain: TK Diagnosis Mild XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G594E(1); standard; MUTATION; TK Accession K00147 Systematic name g.68155G>A, c.1781G>A, r.1781g>a, p.Gly594Glu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minigichi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk in patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am. J. Hum. Genet. 62:1034-1043(1998) RefNumber [5] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0707 DB CrossRef SWISSCHANGE; BTK_HUMAN_61 DB CrossRef SWISS-PROT; Q06187:594_594 DB CrossRef BTKbase; A0106 DB CrossRef BTKbase; A0105 DB CrossRef BTKbase; A0706 DB CrossRef BTKbase; A0187 DB CrossRef BTKbase; A0507 DB CrossRef BTKbase; A0675 DB CrossRef BTKbase; A0385 DB CrossRef BTKbase; A0417 DB CrossRef BTKbase; A0708 DB CrossRef BTKbase; A0707 DB CrossRef SWISSCHANGE; BTK_HUMAN_61 DB CrossRef SWISS-PROT; Q06187:594_594 DB CrossRef BTKbase; A0105 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68155 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1913 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 594 Feature /change: G -> E Feature /domain: TK Diagnosis Mild XLA Diagnosis Occurrence Families: 10; Patients: 12; Homozygotes: 0 Protein struct Affects substrate binding Protein struct ref [2] Protein struct Affects substrate binding Protein struct ref [1] Protein struct Affects substrate binding Protein struct ref [2] Protein struct Affects substrate binding Protein struct ref [1] Protein struct Affects substrate binding Protein struct ref [3] Protein struct Affects substrate binding Protein struct ref [2] Protein struct Affects substrate binding; ref [1] // ID BTK_C502W(1); standard; MUTATION; TK Accession K00148 Systematic name g.65363C>G, c.1506C>G, r.1506c>g, p.Cys502Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef SWISSCHANGE; BTK_HUMAN_39 DB CrossRef SWISS-PROT; Q06187:502_502 DB CrossRef BTKbase; A0314 DB CrossRef BTKbase; A0313 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65363 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1638 Feature /codon: tgc -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 502 Feature /change: C -> W Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_@S572X587(1); standard; MUTATION; TK Accession K00149 Systematic name g.67570_67571insT, c.1715_1716insT, r.1715_1716insu, Systematic name p.Lys573fsX6 Description A frame shift insertion mutation in the exon 17 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (31-May-2000) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0642 DB CrossRef BTKbase; A0643 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 67571 Feature /change: +t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1848 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 572 Feature /change: S -> SQVQQQIX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BTK_@S378X403(1); standard; MUTATION; TK Accession K00150 Systematic name g.63920dupG, c.1131dupG, r.1131dupg, p.Ser378fsX20 Description A frame shift duplication mutation in the exon 13 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 7627183 RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P. RefTitle Characterization of germline mutations of the gene RefTitle encoding Bruton's tyrosine kinase in families with X-linked RefTitle agammaglobulinemia RefLoc Hum. Mutat. 5(1995) DB CrossRef OMIM; 300300.0031 DB CrossRef BTKbase; A0060 DB CrossRef BTKbase; A0166 DB CrossRef BTKbase; A0059 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 63921 Feature /change: +g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1264 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 378 Feature /change: S -> VSTKQECTFH CRPGIRIMGN X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 5; Homozygotes: 0 Protein struct Distortion of catalytic site; ref [2] Protein struct Premature stop Protein struct Distortion of catalytic site; ref [2] Protein struct Distortion of catalytic site; ref [2] // ID BTK_A582V(1); standard; MUTATION; TK Accession K00151 Systematic name g.67600C>T, c.1745C>T, r.1745c>u, p.Ala582Val Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [2] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) RefNumber [4] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [4] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) DB CrossRef SWISSCHANGE; BTK_HUMAN_56 DB CrossRef SWISS-PROT; Q06187:582_582 DB CrossRef BTKbase; A0104 DB CrossRef BTKbase; A0259 DB CrossRef BTKbase; A0122 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67600 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1877 Feature /codon: gct -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 Feature /change: A -> V Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destabilization, orientation of W563 Protein struct ref [1] Protein struct Destabilization, orientation of W563 Protein struct ref [2] // ID BTK_P619T(1); standard; MUTATION; TK Accession K00152 Systematic name g.68229C>A, c.1855C>A, r.1855c>a, p.Pro619Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0379 DB CrossRef BTKbase; A0379 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68229 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1987 Feature /codon: cct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> T Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Highly conserved structurally important Protein struct ref [2] Protein struct Highly conserved structurally important; ref [2] // ID BTK_S623L(1); standard; MUTATION; TK Accession K00154 Systematic name g.68242C>T, c.1868C>T, r.1868c>u, p.Ser623Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0908 DB CrossRef BTKbase; A0907 DB CrossRef BTKbase; A0906 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68242 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2000 Feature /codon: tca -> tta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 623 Feature /change: S -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 5; Homozygotes: 0 // ID BTK_C506Y(1); standard; MUTATION; TK Accession K00155 Systematic name g.65374G>A, c.1517G>A, r.1517g>a, p.Cys506Tyr Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 8) RefNumber [1] RefLoc Submitted (24-May-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [4] RefCrossRef PUBMED; 8162018 RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., RefAuthors Schuurman, R. K. B., Hendriks, R. W. RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in RefTitle X-linked agammaglobulinemia: identification of a mutation RefTitle which affects the same codon as is altered in RefTitle immunodeficient xid mice RefLoc Hum. Molec. Genet. 3:161-166(1994) RefNumber [5] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [6] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) DB CrossRef SWISSCHANGE; BTK_HUMAN_41 DB CrossRef SWISS-PROT; Q06187:506_506 DB CrossRef BTKbase; A0184 DB CrossRef BTKbase; A0378 DB CrossRef BTKbase; A0026 DB CrossRef ESID; CH 0046 M71 G1 DB CrossRef BTKbase; A0241 DB CrossRef BTKbase; A0700 DB CrossRef ESID; IT 0437 M94 G1 DB CrossRef BTKbase; A0240 DB CrossRef BTKbase; A0701 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65374 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1649 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 Feature /change: C -> Y Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 7; Patients: 7; Homozygotes: 0 Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Disturbs stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] // ID BTK_Y425X(1); standard; MUTATION; TK Accession K00156 Systematic name g.64617C>A, c.1275C>A, r.1275c>a, p.Tyr425X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8162018 RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., RefAuthors Schuurman, R. K. B., Hendriks, R. W. RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in RefTitle X-linked agammaglobulinemia: identification of a mutation RefTitle which affects the same codon as is altered in RefTitle immunodeficient xid mice RefLoc Hum. Molec. Genet. 3:161-166(1994) RefNumber [3] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [4] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [4] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [5] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef OMIM; 300300.0033 DB CrossRef BTKbase; A0025 DB CrossRef BTKbase; A0821 DB CrossRef BTKbase; A0309 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64617 Feature /change: c -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1407 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 425 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_C527S(1); standard; MUTATION; TK Accession K00157 Systematic name g.66793T>A, c.1579T>A, r.1579u>a, p.Cys527Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0583 DB CrossRef BTKbase; A0583 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66793 Feature /change: t -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1711 Feature /codon: tgt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#C527X528(1); standard; MUTATION; TK Accession K00158 Systematic name g.66795delT, c.1581delT, r.1581delu, p.Leu528fsX1 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 8090769 RefAuthors Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson, RefAuthors R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good, RefAuthors R. A., Litman, G. W. RefTitle Genomic organization and structure of Bruton RefTitle agammaglobulinemia tyrosine kinase: Localization of RefTitle mutations associated with varied clinical presentations and RefTitle cource in X chromosome-linked agammaglobulinemia RefLoc Proc. Natl. Acad. Sci. 91:9062-9066(1994) RefNumber [3] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [4] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) DB CrossRef BTKbase; A0200 DB CrossRef BTKbase; A0037 DB CrossRef OMIM; 300300.0039 DB CrossRef BTKbase; A0094 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66795 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1713 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> CWX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_Y476D(1); standard; MUTATION; TK Accession K00159 Systematic name g.65283T>G, c.1426T>G, r.1426u>g, p.Tyr476Asp Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Dr. Igor Resnick, Department of Clinical Immunology, RefLoc Research Institute for Paediatric Hematology, RefLoc Central RepublicanPaediatric Hospital, RefLoc Leninsky Pr. 117, Moscow 117513, Russia. RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 7627183 RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P. RefTitle Characterization of germline mutations of the gene RefTitle encoding Bruton's tyrosine kinase in families with X-linked RefTitle agammaglobulinemia RefLoc Hum. Mutat. 5(1995) RefNumber [5] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef SWISSCHANGE; BTK_HUMAN_36 DB CrossRef SWISS-PROT; Q06187:476_476 DB CrossRef BTKbase; A0271 DB CrossRef BTKbase; A0167 DB CrossRef BTKbase; A0829 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65283 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1558 Feature /codon: tac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 476 Feature /change: Y -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 4; Patients: 4; Homozygotes: 0 Protein struct Affects ATP binding; ref [2] Protein struct Affects ATP binding; ref [2] Protein struct Affects ATP binding; ref [2] // ID BTK_K466X(1); standard; MUTATION; TK Accession K00160 Systematic name g.65253A>T, c.1396A>T, r.1396a>u, p.Lys466X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0736 DB CrossRef BTKbase; A0737 DB CrossRef BTKbase; A0735 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65253 Feature /change: a -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1528 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 466 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID BTK_#L452X454(1); standard; MUTATION; TK Accession K00161 Systematic name g.65213delT, c.1356delT, r.1356delu, p.Ser453fsX30 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0133 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65213 Feature /change: -t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1488 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 452 Feature /change: L -> LPMRSWCSCM ASAPSSAPSS SSLSTWPMAA SX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_W421X(1); standard; MUTATION; TK Accession K00162 Systematic name g.64605G>A, c.1263G>A, r.1263g>a, p.Trp421X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (04-Aug-1999) to the BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se RefNumber [3] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0603 DB CrossRef BTKbase; A0336 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64605 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1395 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 421 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Truncated protein; ref [2] // ID BTK_G613D(1); standard; MUTATION; TK Accession K00163 Systematic name g.68212G>A, c.1838G>A, r.1838g>a, p.Gly613Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 8) RefNumber [1] RefLoc Submitted (15-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk RefNumber [2] RefCrossRef PUBMED; 12204007 RefCrossRef Human Mutation, Mutation in Brief #531 (2002) Online RefAuthors Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, RefAuthors J., Vilela, M. M., Miyawaki, T. RefTitle Identification of mutations of bruton's tyrosine kinase RefTitle gene (BTK) in brazilian patients with X-linked RefTitle agammaglobulinemia. RefLoc Hum. Mutat. 20:235-236 (2002) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_65 DB CrossRef SWISS-PROT; Q06187:613_613 DB CrossRef BTKbase; A0530 DB CrossRef BTKbase; A0845 DB CrossRef BTKbase; A0531 DB CrossRef BTKbase; A0844 DB CrossRef OMIM; 300300.0047 DB CrossRef BTKbase; A0065 DB CrossRef BTKbase; A0064 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68212 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1970 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 613 Feature /change: G -> D Feature /domain: TK Diagnosis Classical XLA Diagnosis Mild XLA Occurrence Families: 4; Patients: 8; Homozygotes: 0 Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [2] // ID BTK_H454R(1); standard; MUTATION; TK Accession K00164 Systematic name g.65218A>G, c.1361A>G, r.1361a>g, p.His454Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0742 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65218 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1493 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 454 Feature /change: H -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@Y511X(1); standard; MUTATION; TK Accession K00168 Systematic name g.65388_65389insG, c.1531_1532insG, r.1531_1532insg, Systematic name p.Tyr511X Description An insertion mutation in the exon 15 leading to a premature Description stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [3] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0216 DB CrossRef BTKbase; A0214 DB CrossRef BTKbase; A0215 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 65389 Feature /change: +g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1664 Feature /codon: tac -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 511 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_#Y571X586(1); standard; MUTATION; TK Accession K00169 Systematic name g.67566delT, c.1711delT, r.1711delu, p.Tyr571fsX15 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0589 DB CrossRef BTKbase; A0589 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67566 Feature /change: -t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1843 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 571 Feature /change: Y -> IASSAANLTF GLLGFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_E567K(1); standard; MUTATION; TK Accession K00170 Systematic name g.67554G>A, c.1699G>A, r.1699g>a, p.Glu567Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_54 DB CrossRef SWISS-PROT; Q06187:567_567 DB CrossRef BTKbase; A0135 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67554 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1831 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 567 Feature /change: E -> K Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Distroys stabilizing ion bond with R641; ref [2] Protein struct Distroys stabilizing ion bond with R641; ref [2] // ID BTK_L616F(1); standard; MUTATION; TK Accession K00171 Systematic name g.68220C>T, c.1846C>T, r.1846c>u, p.Leu616Phe Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0594 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68220 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1978 Feature /codon: ctc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 616 Feature /change: L -> F Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R562W(1); standard; MUTATION; TK Accession K00172 Systematic name g.67539C>T, c.1684C>T, r.1684c>u, p.Arg562Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 23) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [5] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) RefNumber [7] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [8] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [8] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [9] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [10] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [11] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) RefNumber [12] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef SWISSCHANGE; BTK_HUMAN_53 DB CrossRef SWISS-PROT; Q06187:562_562 DB CrossRef BTKbase; A0341 DB CrossRef BTKbase; A0609 DB CrossRef OMIM; 300300.0042 DB CrossRef BTKbase; A0075 DB CrossRef BTKbase; A0817 DB CrossRef BTKbase; A0813 DB CrossRef BTKbase; A0121 DB CrossRef BTKbase; A0587 DB CrossRef BTKbase; A0898 DB CrossRef BTKbase; A0586 DB CrossRef BTKbase; A0096 DB CrossRef BTKbase; A0835 DB CrossRef BTKbase; A1001 DB CrossRef BTKbase; A1157 DB CrossRef SWISSCHANGE; BTK_HUMAN_53 DB CrossRef SWISS-PROT; Q06187:562_562 DB CrossRef BTKbase; A0341 DB CrossRef BTKbase; A0609 DB CrossRef BTKbase; A1156 DB CrossRef BTKbase; A0817 DB CrossRef BTKbase; A0813 DB CrossRef BTKbase; A0121 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67539 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1816 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 Feature /change: R -> W Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 22; Patients: 22; Homozygotes: 0 Protein struct substrate binding, and the positioning of W563 Protein struct ref [2] Destabilization, orientation of W563 Protein struct ref [3] Protein struct Destabilization, orientation of W563 Protein struct ref [2] Protein struct Destabilization, orientation of W563 Protein struct ref [2] Protein struct Destabilization, orientation of W563 Protein struct ref [2] Protein struct substrate binding, and the positioning of W563; ref [2] Protein struct Destabilization, orientation of W563; ref [3] Protein struct Destabilization, orientation of W563; ref [2] // ID BTK_#A523-114(1); standard; MUTATION; TK Accession K00173 Systematic name g.66781delG, c.1567delG, r.1567delg, p.Ala523fsX6 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) RefNumber [3] RefCrossRef PUBMED; 10887125 RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M., RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, RefAuthors K., Kishimoto, T., Miyawaki, T. RefTitle Genetic defect in human X-linked agammaglobulinemia RefTitle impedes a maturational evolution of pro-B cells into a RefTitle later stage of pre-B cells in the B-cell differentiation RefTitle pathway RefLoc Blood 96:610-617(2000) DB CrossRef BTKbase; A0317 DB CrossRef BTKbase; A0317 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66781 Feature /change: -g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1699 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523 Feature /change: A -> QLETVWX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_@M630X657(1); standard; MUTATION; TK Accession K00174 Systematic name g.68261_68262insT, c.1887_1888insT, r.1887_1888insu, Systematic name p.Met630fsX6 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef BTKbase; A0066 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68262 Feature /change: +t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2020 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> YVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_G462V(1); standard; MUTATION; TK Accession K00175 Systematic name g.65242G>T, c.1385G>T, r.1385g>u, p.Gly462Val Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0432 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65242 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1517 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 462 Feature /change: G -> V Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_A607D(1); standard; MUTATION; TK Accession K00176 Systematic name g.68194C>A, c.1820C>A, r.1820c>a, p.Ala607Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 8162056 RefAuthors Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, RefAuthors A.M., Morgan, G., Levinsky, R.J., Kinnon, C. RefTitle Mutation detection in the X-linked agammaglobulinemia RefTitle gene, BTK, using single strand conformation polymorphism RefTitle analysis RefLoc Hum. Molec. Genet. 3:79-83(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef OMIM; 300300.0046 DB CrossRef SWISSCHANGE; BTK_HUMAN_64 DB CrossRef SWISS-PROT; Q06187:607_607 DB CrossRef BTKbase; A0017 DB CrossRef BTKbase; A0343 DB CrossRef BTKbase; A0344 DB CrossRef BTKbase; A0016 DB CrossRef BTKbase; A0018 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68194 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1952 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 607 Feature /change: A -> D Feature /domain: TK Diagnosis Moderate XLA Diagnosis Classical XLA Occurrence Families: 3; Patients: 6; Homozygotes: 0 Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [3] Protein struct Domain-domain interactions; ref [3] Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [2] Protein struct Domain-domain interactions; ref [3] // ID BTK_L512P(1); standard; MUTATION; TK Accession K00177 Systematic name g.65392T>C, c.1535T>C, r.1535u>c, p.Leu512Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0738 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65392 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1667 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 512 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R525X(1); standard; MUTATION; TK Accession K00178 Systematic name g.66787C>T, c.1573C>T, r.1573c>u, p.Arg525X Description A point mutation in the exon 16 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 6) RefNumber [1] RefLoc Submitted (01-Jan-1997) to the BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [3] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) DB CrossRef BTKbase; A0402 DB CrossRef BTKbase; A0338 DB CrossRef BTKbase; A0523 DB CrossRef BTKbase; A0118 DB CrossRef BTKbase; A0523 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66787 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1705 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 5; Patients: 5; Homozygotes: 0 Protein struct Truncated protein Protein struct ref [2] Protein struct Truncated protein Protein struct ref [2] Protein struct Premature stop // ID BTK_#A582X586(1); standard; MUTATION; TK Accession K00179 Systematic name g.67600delC, c.1745delC, r.1745delc, p.Ala582fsX4 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (16-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk DB CrossRef BTKbase; A0526 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67600 Feature /change: -c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1877 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 Feature /change: A -> VLGFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G391G(1); standard; MUTATION; TK Accession K00180 Systematic name g.63962A>G, c.1173A>G, r.1173a>g, p.Gly391Gly Description A point mutation in the exon 13 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0495 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63962 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1305 Feature /codon: gga -> ggg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 391 Feature /change: G -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_C506R(1); standard; MUTATION; TK Accession K00181 Systematic name g.65373T>C, c.1516T>C, r.1516u>c, p.Cys506Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (15-May-1996) to the BTKbase RefLoc Dr. Jerrold H. Schwaber; Hahnemann University, Broad & Wine RefLoc Philadelphia, PA 19102, USA; RefLoc e-mail schwaberj@hal.hahnemann.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef Human Mutation, Mutation in Brief #377 (2000) Online RefAuthors Tao, L., Boyd, M., Gonye, G., Malone, M., Schwaber, J. RefTitle BTK mutations in patient with X-linked agammaglobulinemia: RefTitle Lack of correlation between presence of peripheral B RefTitle lymphocytes and specific mutations RefLoc Hum. Mut. 16:528-529 (2000) RefNumber [4] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_40 DB CrossRef SWISS-PROT; Q06187:506_506 DB CrossRef BTKbase; A0289 DB CrossRef OMIM; 300300.0035 DB CrossRef BTKbase; A0071 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65373 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1648 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 Feature /change: C -> R Feature /domain: TK Diagnosis Mild XLA Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Affects stabilizing interactions, charge effect; ref [2] Protein struct Affects stabilizing interactions, charge effect; ref [2] // // ID BTK_R641H(1); standard; MUTATION; TK Accession K00183 Systematic name g.71534G>A, c.1922G>A, r.1922g>a, p.Arg641His Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 14) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [2] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [5] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [5] RefCrossRef PUBMED; 10844531 RefAuthors Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., RefAuthors Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., RefAuthors Komiyama, A., Miyawaki, T. RefTitle Detection of Bruton's tyrosine kinase mutations in RefTitle hypogammaglobulinaemic males registered as common variable RefTitle immunodeficiency (CVID) in the Japanese Immunodeficiency RefTitle Registry RefLoc Clin. Exp. Immunol. 120:512-517(2000) RefNumber [6] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0690 DB CrossRef SWISSCHANGE; BTK_HUMAN_72 DB CrossRef SWISS-PROT; Q06187:641_641 DB CrossRef BTKbase; A0454 DB CrossRef BTKbase; A0139 DB CrossRef BTKbase; A0403 DB CrossRef BTKbase; A0713 DB CrossRef BTKbase; A0455 DB CrossRef BTKbase; A0140 DB CrossRef BTKbase; A0141 DB CrossRef BTKbase; A1184 DB CrossRef BTKbase; A0690 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71534 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2054 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 641 Feature /change: R -> H Feature /domain: TK Diagnosis Classical XLA Diagnosis Mild XLA Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 13; Patients: 13; Homozygotes: 0 Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] Protein struct C terminus Protein struct ref [2] Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] // ID BTK_#T628-4(1); standard; MUTATION; TK Accession K00184 Systematic name g.68258C>T, c.1884C>T, r.1884c>u, p.Thr628Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0514 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68258 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2016 Feature /codon: acc -> act; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 628 Feature /change: T -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y631X(2); standard; MUTATION; TK Accession K00185 Systematic name g.68266delA, c.1892delA, r.1892dela, p.Tyr631fsX17 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0440 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68266 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2024 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 631 Feature /change: Y -> SVVGMRKQMS VPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_W634S(1); standard; MUTATION; TK Accession K00186 Systematic name g.68275G>C, c.1901G>C, r.1901g>c, p.Trp634Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0909 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68275 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2033 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 634 Feature /change: W -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E589G(1); standard; MUTATION; TK Accession K00187 Systematic name g.68140A>G, c.1766A>G, r.1766a>g, p.Glu589Gly Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [2] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef OMIM; 300300.0044 DB CrossRef SWISSCHANGE; BTK_HUMAN_58 DB CrossRef SWISS-PROT; Q06187:589_589 DB CrossRef BTKbase; A0061 DB CrossRef BTKbase; A0063 DB CrossRef BTKbase; A0062 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68140 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1898 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 589 Feature /change: E -> G Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 Protein struct Affects substrate binding; ref [1] Protein struct Affects substrate binding; ref [1] Protein struct Affects substrate binding; ref [1] // ID BTK_L402P(1); standard; MUTATION; TK Accession K00188 Systematic name g.64547T>C, c.1205T>C, r.1205u>c, p.Leu402Pro Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (08-Jan-2002) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Madrid 28046, Spain; Tel 91 7277095; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es DB CrossRef BTKbase; A0809 DB CrossRef BTKbase; A0808 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64547 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1337 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 402 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BTK_F583S(1); standard; MUTATION; TK Accession K00189 Systematic name g.67603T>C, c.1748T>C, r.1748u>c, p.Phe583Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefLoc Submitted (20-Aug-1997) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0415 DB CrossRef BTKbase; A0527 DB CrossRef BTKbase; A0415 DB CrossRef BTKbase; A0527 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67603 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1880 Feature /codon: ttt -> tct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 583 Feature /change: F -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID BTK_L452P(1); standard; MUTATION; TK Accession K00190 Systematic name g.65212T>C, c.1355T>C, r.1355u>c, p.Leu452Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [2] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0689 DB CrossRef BTKbase; A1133 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65212 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1487 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 452 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_Y598C(1); standard; MUTATION; TK Accession K00192 Systematic name g.68167A>G, c.1793A>G, r.1793a>g, p.Tyr598Cys Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef ESID; GB 0577 M63 G1 DB CrossRef SWISSCHANGE; BTK_HUMAN_63 DB CrossRef SWISS-PROT; Q06187:598_598 DB CrossRef BTKbase; A0244 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68167 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1925 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 598 Feature /change: Y -> C Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@T410X439(1); standard; MUTATION; TK Accession K00193 Systematic name g.64569dupG, c.1227dupG, r.1227dupg, p.Thr410fsX29 Description A frame shift duplication mutation in the exon 14 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) RefNumber [2] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [3] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) DB CrossRef BTKbase; A0677 DB CrossRef BTKbase; A0687 DB CrossRef ESID; EL 0045 M81 G1 DB CrossRef BTKbase; A0237 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 64570 Feature /change: +g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1360 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 410 Feature /change: T -> DWTIWGSEVW EMERPVRRGH QDDQRRLHVX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_C527F(1); standard; MUTATION; TK Accession K00195 Systematic name g.66794G>T, c.1580G>T, r.1580g>u, p.Cys527Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0744 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66794 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1712 Feature /codon: tgt -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> F Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E441X(1); standard; MUTATION; TK Accession K00196 Systematic name g.64663G>T, c.1321G>T, r.1321g>u, p.Glu441X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [2] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [3] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0213 DB CrossRef BTKbase; A0310 DB CrossRef BTKbase; A0213 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64663 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1453 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 441 Feature /change: E -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Premature stop // ID BTK_#N530X555(1); standard; MUTATION; TK Accession K00198 Systematic name g.66802delA, c.1588delA, r.1588dela, p.Asn530fsX25 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) DB CrossRef OMIM; 300300.0038 DB CrossRef BTKbase; A0074 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66802 Feature /change: -a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1720 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 530 Feature /change: N -> TIKELLKYLI SACPGMSWMM NTQAQX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_W581X(1); standard; MUTATION; TK Accession K00199 Systematic name g.67598G>A, c.1743G>A, r.1743g>a, p.Trp581X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (06-Jun-2001) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es DB CrossRef BTKbase; A0774 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67598 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1875 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_C506F(1); standard; MUTATION; TK Accession K00200 Systematic name g.65374G>T, c.1517G>T, r.1517g>u, p.Cys506Phe Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0579 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65374 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1649 Feature /codon: tgt -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 Feature /change: C -> F Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_P565T(1); standard; MUTATION; TK Accession K00202 Systematic name g.67548C>A, c.1693C>A, r.1693c>a, p.Pro565Thr Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12768435 RefAuthors Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C. RefAuthors H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee, RefAuthors S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T. RefTitle Identification of mutations in the bruton's tyrosine RefTitle kinase gene, including a novel genomic rearrangements RefTitle resulting in large deletion, in korean X-linked RefTitle agammaglobulinemia patients. RefLoc J Hum Genet 48:322-326 (2003) DB CrossRef BTKbase; A0911 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67548 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1825 Feature /codon: cca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 565 Feature /change: P -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_K430E(1); standard; MUTATION; TK Accession K00204 Systematic name g.64630A>G, c.1288A>G, r.1288a>g, p.Lys430Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8380905 RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J., RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C., RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R. RefTitle The gene involved in X-linked agammaglobulinemia is RefTitle a member of the src family of protein-tyrosine kinases RefLoc Nature 361:226-233(1993) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) RefNumber [4] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [5] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef OMIM; 300300.0002 DB CrossRef SWISSCHANGE; BTK_HUMAN_35 DB CrossRef SWISS-PROT; Q06187:430_430 DB CrossRef BTKbase; A0003 DB CrossRef BTKbase; A0688 DB CrossRef ESID; EL 0240 M57 G1 DB CrossRef BTKbase; A0238 DB CrossRef BTKbase; A0734 DB CrossRef Swiss-Prot variant; VAR_006242 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64630 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1420 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> E Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 4; Patients: 4; Homozygotes: 0 Protein struct Disturbs ATP binding Protein struct ref [2] Protein struct Disturbs ATP binding Protein struct ref [2] // ID BTK_W588X(1); standard; MUTATION; TK Accession K00205 Systematic name g.68137G>A, c.1763G>A, r.1763g>a, p.Trp588X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) RefNumber [2] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0506 DB CrossRef BTKbase; A0591 DB CrossRef BTKbase; A0505 DB CrossRef BTKbase; A0901 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68137 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1895 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 588 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID BTK_M509I(1); standard; MUTATION; TK Accession K00206 Systematic name g.65384G>A, c.1527G>A, r.1527g>a, p.Met509Ile Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J. E., Rohrer, J., Conley, M. E.. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [4] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [5] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) DB CrossRef BTKbase; A0467 DB CrossRef BTKbase; A0818 DB CrossRef SWISSCHANGE; BTK_HUMAN_42 DB CrossRef SWISS-PROT; Q06187:509_509 DB CrossRef BTKbase; A0257 DB CrossRef BTKbase; A0467 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65384 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1659 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> I Feature /domain: TK Diagnosis Classical XLA Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 0 Protein struct Affects stabilation of catalytic loop Protein struct ref [2] Protein struct Affects stabilation of catalytic loop Protein struct ref [2] Protein struct Affects stabilation of catalytic loop; ref [2] // ID BTK_#Y571X577(1); standard; MUTATION; TK Accession K00207 Systematic name g.67566delT, c.1711delT, r.1711delu, p.Tyr571fsX15 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0762 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67566 Feature /change: -t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1843 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 571 Feature /change: Y -> IASSAANLTF GLLGFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G594R(1); standard; MUTATION; TK Accession K00210 Systematic name g.68154G>C, c.1780G>C, r.1780g>c, p.Gly594Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) RefNumber [2] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A0705 DB CrossRef BTKbase; A1007 DB CrossRef BTKbase; A0705 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68154 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1912 Feature /codon: ggg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 594 Feature /change: G -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Diagnosis Occurrence Families: 2; Patients: 3; Homozygotes: 0 // // ID BTK_@K637X638(1); standard; MUTATION; TK Accession K00212 Systematic name g.71520_71521insT, c.1908_1909insT, r.1908_1909insu, Systematic name p.Lys637X Description An insertion mutation in the exon 19 leading to a premature Description stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8162018 RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., RefAuthors Schuurman, R. K. B., Hendriks, R. W. RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in RefTitle X-linked agammaglobulinemia: identification of a mutation RefTitle which affects the same codon as is altered in RefTitle immunodeficient xid mice RefLoc Hum. Molec. Genet. 3:161-166(1994) DB CrossRef OMIM; 300300.0050 DB CrossRef BTKbase; A0027 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 71521 Feature /change: +t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2041 Feature /codon: aaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 637 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_F644L(1); standard; MUTATION; TK Accession K00213 Systematic name g.71544C>A, c.1932C>A, r.1932c>a, p.Phe644Leu Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0441 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71544 Feature /change: c -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2064 Feature /codon: ttc -> tta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 644 Feature /change: F -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_R520X(1); standard; MUTATION; TK Accession K00214 Systematic name g.65415C>T, c.1558C>T, r.1558c>u, p.Arg520X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 17) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [4] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [5] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [6] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [7] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [8] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [9] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) DB CrossRef BTKbase; A0337 DB CrossRef OMIM; 300300.0036 DB CrossRef BTKbase; A0056 DB CrossRef BTKbase; A0362 DB CrossRef BTKbase; A0057 DB CrossRef BTKbase; A0860 DB CrossRef BTKbase; A0217 DB CrossRef BTKbase; A0383 DB CrossRef BTKbase; A0091 DB CrossRef ESID; CH 0533 M74 G1 DB CrossRef BTKbase; A0242 DB CrossRef BTKbase; A0072 DB CrossRef BTKbase; A0434 DB CrossRef BTKbase; A0414 DB CrossRef BTKbase; A0361 DB CrossRef BTKbase; A0581 DB CrossRef OMIM; 300300.0036 DB CrossRef BTKbase; A0056 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65415 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1690 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 Feature /change: R -> X Feature /domain: TK Diagnosis Classical XLA Diagnosis Moderate XLA Diagnosis Mild XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 15; Patients: 16; Homozygotes: 0 Protein struct Truncated protein Protein struct ref [2] Protein struct Premature stop // ID BTK_F559S(1); standard; MUTATION; TK Accession K00215 Systematic name g.67531T>C, c.1676T>C, r.1676u>c, p.Phe559Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0340 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67531 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1808 Feature /codon: ttt -> tct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 559 Feature /change: F -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disrupts substrate specific SH1 domain; ref [2] // ID BTK_P619S(1); standard; MUTATION; TK Accession K00216 Systematic name g.68229C>T, c.1855C>T, r.1855c>u, p.Pro619Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef ESID; GB 1234 M70 G1 DB CrossRef SWISSCHANGE; BTK_HUMAN_66 DB CrossRef SWISS-PROT; Q06187:619_619 DB CrossRef BTKbase; A0246 DB CrossRef BTKbase; A0837 DB CrossRef ESID; SE 0756 M92 G1 DB CrossRef BTKbase; A0245 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68229 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1987 Feature /codon: cct -> tct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Affects turn formation Protein struct ref [2] Protein struct Affects turn formation Protein struct ref [2] // ID BTK_R544S(1); standard; MUTATION; TK Accession K00217 Systematic name g.67487G>T, c.1632G>T, r.1632g>u, p.Arg544Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Mar-2001) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) RefNumber [3] RefCrossRef PUBMED; 18241233 RefAuthors Perez de Diego, R., Lopez-Granados, E., Rivera, J., RefAuthors Ferreira, A., Fontan, G., Bravo, J., Garcia Rodriguez, M. RefAuthors C., Bolland, S. RefTitle Naturally occurring bruton's tyrosine kinase mutations RefTitle have no dominant negative effect in an X-linked RefTitle agammaglobulinaemia cellular model. RefLoc Clin Exp Immunol:33-38 (2008) DB CrossRef BTKbase; A0739 DB CrossRef BTKbase; A1242 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67487 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1764 Feature /codon: agg -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_N526K(1); standard; MUTATION; TK Accession K00218 Systematic name g.66792C>G, c.1578C>G, r.1578c>g, p.Asn526Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_49 DB CrossRef SWISS-PROT; Q06187:526_526 DB CrossRef BTKbase; A0120 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66792 Feature /change: c -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1710 Feature /codon: aac -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 526 Feature /change: N -> K Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disturbs Mg and D521 binding Protein struct ref [2] // // ID BTK_L647R(1); standard; MUTATION; TK Accession K00221 Systematic name g.71552T>G, c.1940T>G, r.1940u>g, p.Leu647Arg Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 5) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_74 DB CrossRef SWISS-PROT; Q06187:647_647 DB CrossRef BTKbase; A0202 DB CrossRef BTKbase; A0460 DB CrossRef BTKbase; A0461 DB CrossRef SWISSCHANGE; BTK_HUMAN_74 DB CrossRef SWISS-PROT; Q06187:647_647 DB CrossRef BTKbase; A0460 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71552 Feature /change: t -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2072 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 647 Feature /change: L -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 1; Patients: 4; Homozygotes: 0 Protein struct Affects conformation of the C-terminus Protein struct ref [2] Protein struct Affects conformation of the C-terminus Protein struct ref [2] Protein struct Affects conformation of the C-terminus Protein struct ref [2] Protein struct Affects conformation of the C-terminus; ref [2] // ID BTK_Y392X(1); standard; MUTATION; TK Accession K00222 Systematic name g.63965C>A, c.1176C>A, r.1176c>a, p.Tyr392X Description A point mutation in the exon 13 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) DB CrossRef BTKbase; A0686 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63965 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1308 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 392 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#P642X654(1); standard; MUTATION; TK Accession K00223 Systematic name g.71537delC, c.1925delC, r.1925delc, p.Thr643fsX5 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (10-Oct-1998) to BTKbase. RefLoc Dr. Igor Resnick; Department of Clinical Immunology, RefLoc Research Institute for Paediatric Hematology, RefLoc Central Republican Paediatric Hospital, RefLoc Leninsky Pr. 117, Moscow 117513, Russia DB CrossRef BTKbase; A0513 DB CrossRef BTKbase; A0513 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 71537 Feature /change: -c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2057 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 642 Feature /change: P -> PLSKFFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_S554X(1); standard; MUTATION; TK Accession K00224 Systematic name g.67516C>G, c.1661C>G, r.1661c>g, p.Ser554X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0339 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67516 Feature /change: c -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1793 Feature /codon: tca -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 554 Feature /change: S -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Truncated protein; ref [2] Protein struct Truncated protein; ref [2] // ID BTK_M630K(1); standard; MUTATION; TK Accession K00225 Systematic name g.68263T>A, c.1889T>A, r.1889u>a, p.Met630Lys Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 7880320 RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S. RefTitle Genomic organization of the Btk gene and exon scanning for RefTitle mutations in the patients with X-linked RefTitle agammaglobulinemia RefLoc Hum. Molec. Genet. 3:1743-1749(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) DB CrossRef OMIM; 300300.0048 DB CrossRef SWISSCHANGE; BTK_HUMAN_68 DB CrossRef SWISS-PROT; Q06187:630_630 DB CrossRef BTKbase; A0076 DB CrossRef BTKbase; A0099 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68263 Feature /change: t -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2021 Feature /codon: atg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> K Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destabilization of hydrophobic core; ref [2] Protein struct Destabilization of hydrophobic core; ref [2] Protein struct Destabilization of hydrophobic core; ref [2] // // ID BTK_#Q612X648(1); standard; MUTATION; TK Accession K00227 Systematic name g.68208delC, c.1834delC, r.1834delc, p.Gln612fsX36 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (31-May-2000) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0644 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68208 Feature /change: -c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1966 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> KAYVSTGLIW LQRRYIPSCT VVGMRKQMSV PLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#S632X648(1); standard; MUTATION; TK Accession K00228 Systematic name g.68268delA, c.1894delA, r.1894dela, p.Ser632fsX16 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0138 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68268 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2026 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 632 Feature /change: S -> VVGMRKQMSV PLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_#K430X438(1); standard; MUTATION; TK Accession K00229 Systematic name g.64630delA, c.1288delA, r.1288dela, p.Lys430fsX1 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) DB CrossRef BTKbase; A0678 DB CrossRef BTKbase; A0678 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 64630 Feature /change: -a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1420 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> RX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // // ID BTK_R562P(1); standard; MUTATION; TK Accession K00231 Systematic name g.67540G>C, c.1685G>C, r.1685g>c, p.Arg562Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10678660 RefAuthors Curtis, S. K., Hebert, M. D., Saha, B. K. RefTitle Twin carriers of X-linked agammaglobulinemia (XLA) due to RefTitle germline mutation in the Btk gene RefLoc Am J. Med. Genet. 90:229-32 (2000) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef BTKbase; A0646 DB CrossRef BTKbase; A0647 DB CrossRef SWISSCHANGE; BTK_HUMAN_52 DB CrossRef SWISS-PROT; Q06187:562_562 DB CrossRef BTKbase; A0103 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67540 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1817 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 Feature /change: R -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Stabilization and orientation of W563 Protein struct ref [1] // ID BTK_M587T(1); standard; MUTATION; TK Accession K00232 Systematic name g.68134T>C, c.1760T>C, r.1760u>c, p.Met587Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (24-Dec-2001) to BTKbase. RefLoc J.G. Noordzij; e-mail noordzij@immu.fgg.eur.nl RefNumber [2] RefAuthors Noordzij, J.G. RefTitle Genotypic and phenotypic aspects of primary RefTitle immunodeficiency diseases of the lymphoid system RefLoc Thesis (2002), Erasmus University Rotterdam, RefLoc The Netherlands RefNumber [3] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [2] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef BTKbase; A0822 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68134 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1892 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 587 Feature /change: M -> T Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#C527X535(1); standard; MUTATION; TK Accession K00233 Systematic name g.66793delT, c.1579delT, r.1579delu, p.Cys527fsX2 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) DB CrossRef BTKbase; A0704 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66793 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1711 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 527 Feature /change: C -> VWX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_A622P(1); standard; MUTATION; TK Accession K00234 Systematic name g.68238G>C, c.1864G>C, r.1864g>c, p.Ala622Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J. E., Rohrer, J., Conley, M. E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [2] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0469 DB CrossRef BTKbase; A0596 DB CrossRef BTKbase; A0469 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68238 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1996 Feature /codon: gct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 622 Feature /change: A -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BTK_@E605+2(1); standard; MUTATION; TK Accession K00235 Systematic name g.68186_68187insG, c.1812_1813insG, r.1812_1813insg, Systematic name p.Glu605fsX3 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0342 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68187 Feature /change: +g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1945 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 605 Feature /change: E -> GDCX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disrupts the alpha helix of TK; ref [2] // ID BTK_@Y392X(1); standard; MUTATION; TK Accession K00236 Systematic name g.63964dupA, c.1175dupA, r.1175dupa, p.Tyr392X Description A duplication mutation in the exon 13 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11555397 RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F., RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E., RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras, RefAuthors P., Ritis, K. RefTitle Analysis of btk mutations in patients with X-linked RefTitle agammaglobulinaemia (XLA) and determination of carrier RefTitle status in normal female relatives: a nationwide study of RefTitle btk deficiency in greece. RefLoc Scand J Immunol 54:321-327 (2001) DB CrossRef BTKbase; A0685 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 63965 Feature /change: +a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1308 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 392 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_R600X(1); standard; MUTATION; TK Accession K00237 Systematic name g.68172A>T, c.1798A>T, r.1798a>u, p.Arg600X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0201 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68172 Feature /change: a -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1930 Feature /codon: aga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 600 Feature /change: R -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_R544G(1); standard; MUTATION; TK Accession K00239 Systematic name g.66844A>G, c.1630A>G, r.1630a>g, p.Arg544Gly Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (31-May-2000) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0637 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66844 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1762 Feature /codon: agg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> G Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#R562X569(1); standard; MUTATION; TK Accession K00240 Systematic name g.67539C>T, c.1684C>T, r.1684c>u, p.Arg562Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) DB CrossRef ESID; NO 001 M63 G1 DB CrossRef BTKbase; A0243 DB CrossRef ESID; NO 001 M63 G1 DB CrossRef BTKbase; A0243 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67539 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1816 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 Feature /change: R -> W Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_C633Y(1); standard; MUTATION; TK Accession K00242 Systematic name g.68272G>A, c.1898G>A, r.1898g>a, p.Cys633Tyr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) DB CrossRef SWISSCHANGE; BTK_HUMAN_69 DB CrossRef SWISS-PROT; Q06187:633_633 DB CrossRef BTKbase; A0320 DB CrossRef SWISSCHANGE; BTK_HUMAN_69 DB CrossRef SWISS-PROT; Q06187:633_633 DB CrossRef BTKbase; A0320 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68272 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2030 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 633 Feature /change: C -> Y Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_W563L(1); standard; MUTATION; TK Accession K00244 Systematic name g.67543G>T, c.1688G>T, r.1688g>u, p.Trp563Leu Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0503 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67543 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1820 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 563 Feature /change: W -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_D521N(1); standard; MUTATION; TK Accession K00245 Systematic name g.65418G>A, c.1561G>A, r.1561g>a, p.Asp521Asn Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (08-Sept-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_46 DB CrossRef SWISS-PROT; Q06187:521_521 DB CrossRef BTKbase; A0199 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65418 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1693 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 521 Feature /change: D -> N Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Disturbs catalysis; ref [2] Protein struct Disturbs catalysis; ref [2] // ID BTK_@T628X649(1); standard; MUTATION; TK Accession K00246 Systematic name g.68255_68256insC, c.1881_1882insC, r.1881_1882insc, Systematic name p.Thr628fsX8 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (10-May-1995) to the BTKbase. RefLoc Christine Kinnon; Molecular Immunology Unit, Institute of RefLoc Child Health, 30, Guilford Street, London WC1N 1EH, UK; Tel RefLoc 44 (0) 171 829 8892; Fax 44 (0) 171 831 4366; e-mail RefLoc c.kinnon@ich.ucl.ac.uk RefNumber [1] RefCrossRef PUBMED; 7633429 RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J., RefAuthors Kinnon, C. RefTitle Mutation analysis in Bruton's tyrosine kinase, the X- RefTitle linked agammaglobulinemia, including identification of an RefTitle insertional hotspot RefLoc Hum. Molec. Genet. 4: 755-757(1995) DB CrossRef BTKbase; A0157 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68256 Feature /change: +c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2014 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 628 Feature /change: T -> HHHVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_#S386X396(1); standard; MUTATION; TK Accession K00247 Systematic name g.63945delT, c.1156delT, r.1156delu, p.Ser386fsX16 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0763 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 63945 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1288 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 386 Feature /change: S -> PLQAWDTDHG KLIQRTX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_P597T(1); standard; MUTATION; TK Accession K00248 Systematic name g.68163C>A, c.1789C>A, r.1789c>a, p.Pro597Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0592 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68163 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1921 Feature /codon: cca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 597 Feature /change: P -> T Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W563X(1); standard; MUTATION; TK Accession K00249 Systematic name g.67543G>A, c.1688G>A, r.1688g>a, p.Trp563X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0408 DB CrossRef BTKbase; A0408 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67543 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1820 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 563 Feature /change: W -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Truncated protein Protein struct ref [2] Protein struct Truncated protein; ref [2] // ID BTK_A523E(1); standard; MUTATION; TK Accession K00251 Systematic name g.66782C>A, c.1568C>A, r.1568c>a, p.Ala523Glu Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (15-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk DB CrossRef BTKbase; A0522 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66782 Feature /change: c -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1700 Feature /codon: gca -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523 Feature /change: A -> E Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_378(1); standard; MUTATION; TK Accession K00252 Systematic name g.63920_63921ins6, c.1131_1132ins6, r.1131_1132ins6, Systematic name p.Gln379fsX18 Description A frame shift insertion mutation in the exon 13 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0752 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 63921 Feature /change: +6 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1264 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 378 Feature /change: S -> STKQECTFHC RPGIRIMGNX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@Y617X649(1); standard; MUTATION; TK Accession K00253 Systematic name g.68223_68224insC, c.1849_1850insC, r.1849_1850insc, Systematic name p.Tyr617fsX19 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0905 DB CrossRef BTKbase; A0904 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68224 Feature /change: +c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1982 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 617 Feature /change: Y -> SQASSGFREG IYHHVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_#S538X555(1); standard; MUTATION; TK Accession K00254 Systematic name g.66828delT, c.1614delT, r.1614delu, p.Asp539fsX16 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0584 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66828 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1746 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 538 Feature /change: S -> SISACPGMSW MMNTQAQX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y476X(1); standard; MUTATION; TK Accession K00256 Systematic name g.65285delC, c.1428delC, r.1428delc, p.Tyr476X Description A deletion mutation in the exon 15 leading to a premature Description stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9143921 RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R., RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E. RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in RefTitle 26 unrelated patients with X-linked agammaglobulinemia RefLoc Hum. Mut. 9:418-425 (1997) DB CrossRef ESID; DE 0174 M80 G1 DB CrossRef BTKbase; A0239 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65285 Feature /change: -c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1560 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 476 Feature /change: Y -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_@M509X536(1); standard; MUTATION; TK Accession K00258 Systematic name g.65382dupA, c.1525dupA, r.1525dupa, p.Met509fsX27 Description A frame shift duplication mutation in the exon 15 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0580 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 65383 Feature /change: +a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1658 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> NGIPGVKAVP SPRPGSSKLF GKRSRSCX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#I651X652(1); standard; MUTATION; TK Accession K00259 Systematic name g.71564delT, c.1952delT, r.1952delu, p.Leu652fsX0 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) DB CrossRef BTKbase; A0124 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 71564 Feature /change: -t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2084 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 651 Feature /change: I -> IX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_D521G(1); standard; MUTATION; TK Accession K00260 Systematic name g.65419A>G, c.1562A>G, r.1562a>g, p.Asp521Gly Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) RefNumber [4] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0398 DB CrossRef BTKbase; A1144 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65419 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1694 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 521 Feature /change: D -> G Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Invariant residue Protein struct ref [2] // ID BTK_L408P(1); standard; MUTATION; TK Accession K00261 Systematic name g.64565T>C, c.1223T>C, r.1223u>c, p.Leu408Pro Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 18518992 RefAuthors Sigmon, J. R., Kasasbeh, E., Krishnaswamy, G. RefTitle X-linked agammaglobulinemia diagnosed late in life: case RefTitle report and review of the literature. RefLoc Clin Mol Allergy:5 (2008) DB CrossRef OMIM; 300300.0032 DB CrossRef SWISSCHANGE; BTK_HUMAN_32 DB CrossRef SWISS-PROT; Q06187:408_408 DB CrossRef Swiss-Prot variant; VAR_006239 DB CrossRef BTKbase; A0054 DB CrossRef BTKbase; A0053 DB CrossRef BTKbase; A1405 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64565 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1355 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 408 Feature /change: L -> P Feature /domain: TK Diagnosis Moderate XLA Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 Protein struct Destroys beta-sheet structure Protein struct ref [2] Protein struct Destroys beta-sheet structure Protein struct ref [2] // ID BTK_L652P(1); standard; MUTATION; TK Accession K00262 Systematic name g.71567T>C, c.1955T>C, r.1955u>c, p.Leu652Pro Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef OMIM; 300300.0051 DB CrossRef SWISSCHANGE; BTK_HUMAN_70 DB CrossRef SWISS-PROT; Q06187:652_652 DB CrossRef BTKbase; A0100 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71567 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2087 Feature /codon: cta -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 652 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Domain-domain interactions; ref [2] // ID BTK_Q612X(1); standard; MUTATION; TK Accession K00263 Systematic name g.68208C>T, c.1834C>T, r.1834c>u, p.Gln612X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk RefNumber [2] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0437 DB CrossRef BTKbase; A0741 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68208 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1966 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Premature stop // ID BTK_R544K(1); standard; MUTATION; TK Accession K00264 Systematic name g.66845G>A, c.1631G>A, r.1631g>a, p.Arg544Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 19039656 RefAuthors Wang, Y., Kanegane, H., Wang, X., Han, X., Zhang, Q., RefAuthors Zhao, S., Yu, Y., Wang, J., Miyawaki, T. RefTitle Mutation of the BTK gene and clinical feature of X-linked RefTitle agammaglobulinemia in mainland china. RefLoc J Clin Immunol:352-356 (2009) RefNumber [4] RefCrossRef PUBMED; 19904586 RefAuthors Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, RefAuthors W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., RefAuthors Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L. RefTitle Clinical characteristics and genotype-phenotype RefTitle correlation in 62 patients with X-linked RefTitle agammaglobulinemia. RefLoc J Clin Immunol:121-131 (2010) DB CrossRef SWISSCHANGE; BTK_HUMAN_51 DB CrossRef SWISS-PROT; Q06187:544_544 DB CrossRef BTKbase; A0218 DB CrossRef BTKbase; A1322 DB CrossRef BTKbase; A1344 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66845 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1763 Feature /codon: agg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> K Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Affects phosphotyrosine binding; ref [2] // ID BTK_R641C(1); standard; MUTATION; TK Accession K00265 Systematic name g.71533C>T, c.1921C>T, r.1921c>u, p.Arg641Cys Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 7633429 RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J., RefAuthors Kinnon, C. RefTitle Mutation analysis in Bruton's tyrosine kinase, the X- RefTitle linked agammaglobulinemia, including identification of an RefTitle insertional hotspot RefLoc Hum. Molec. Genet. 4: 755-757(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [3] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) RefNumber [4] RefCrossRef PUBMED; 10737994 RefCrossRef Human Mutation, Mutation in Brief #312 (2000) Online RefAuthors Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L. RefTitle Bruton's tyrosine kinase mutations in 8 chinese families RefTitle with X-linked agammaglobulinemia RefLoc Hum. Mutat. 15:355 (2000) DB CrossRef SWISSCHANGE; BTK_HUMAN_71 DB CrossRef SWISS-PROT; Q06187:641_641 DB CrossRef BTKbase; A0158 DB CrossRef BTKbase; A0709 DB CrossRef BTKbase; A0629 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71533 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2053 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 641 Feature /change: R -> C Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destroys stabilizing ion bond with E567 Protein struct ref [2] // ID BTK_W634X(1); standard; MUTATION; TK Accession K00266 Systematic name g.68276G>A, c.1902G>A, r.1902g>a, p.Trp634X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0321 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68276 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2034 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 634 Feature /change: W -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M509T(1); standard; MUTATION; TK Accession K00267 Systematic name g.65383T>C, c.1526T>C, r.1526u>c, p.Met509Thr Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefLoc Submitted (15-May-1999) to the BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se RefNumber [3] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) RefNumber [3] RefCrossRef PUBMED; 16712653 RefAuthors Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L., RefAuthors Lee, B. W., Yang, X., Lau, Y. L. RefTitle Identification of bruton tyrosine kinase mutations in 12 RefTitle chinese patients with X-linked agammaglobulinaemia by long RefTitle PCR-direct sequencing. RefLoc Int J Immunogenet 33:205-209 (2006) DB CrossRef BTKbase; A0554 DB CrossRef BTKbase; A0836 DB CrossRef BTKbase; A1192 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65383 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1658 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> T Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID BTK_#M489X498(1); standard; MUTATION; TK Accession K00268 Systematic name g.65324delG, c.1467delG, r.1467delg, p.Met489fsX10 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10612838 RefAuthors Orlandi, P., Ritis, K., Moschese, V., Angelini, F., RefAuthors Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., RefAuthors Rossi, P. RefTitle Identification of nine novel mutations in the Bruton's RefTitle tyrosine kinase gene in X-linked agammaglobulinemia patients RefLoc Hum. Mutat. 15:117 (2000) DB CrossRef BTKbase; A0623 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65324 Feature /change: -g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1599 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 489 Feature /change: M -> IATASRLSSC X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@G389X398(1); standard; MUTATION; TK Accession K00269 Systematic name g.63955dupG, c.1166dupG, r.1166dupg, p.Leu390fsX8 Description A frame shift duplication mutation in the exon 13 leading Description to a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0753 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 63956 Feature /change: +g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1299 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 389 Feature /change: G -> GPGIRIMGNX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S578P(1); standard; MUTATION; TK Accession K00270 Systematic name g.67587T>C, c.1732T>C, r.1732u>c, p.Ser578Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (26-Aug-2002) to BTKbase. RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of RefLoc Biosciences at Novum, Karolinska Institute, S-14157 RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se DB CrossRef BTKbase; A0816 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67587 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1864 Feature /codon: tct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 578 Feature /change: S -> P Feature /domain: TK Diagnosis Classical XLA Diagnosis X-linked agammaglobulinemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_M477R(1); standard; MUTATION; TK Accession K00271 Systematic name g.65287T>G, c.1430T>G, r.1430u>g, p.Met477Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8634718 RefAuthors Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., RefAuthors Webster, A. D. B., Smith, C. I. E. RefTitle Improved oligonucleotide primer set for molecular RefTitle diagnosis of X-linked agammaglobulinemia: predominance of RefTitle amino acid substitutions in the catalytic domain of RefTitle Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 4:2403-2405(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_37 DB CrossRef SWISS-PROT; Q06187:477_477 DB CrossRef BTKbase; A0204 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65287 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1562 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 477 Feature /change: M -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Affects ATP binding Protein struct ref [2] // // // ID BTK_Q497X(1); standard; MUTATION; TK Accession K00275 Systematic name g.65346C>T, c.1489C>T, r.1489c>u, p.Gln497X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [3] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef BTKbase; A0886 DB CrossRef BTKbase; A0312 DB CrossRef BTKbase; A0887 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65346 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1621 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 497 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BTK_@S572X(1); standard; MUTATION; TK Accession K00277 Systematic name g.67568dupT, c.1713dupT, r.1713dupu, p.Ser572X Description A duplication mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (16-Oct-1998) to BTKbase. RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory, RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street RefLoc Hospital for Children NHS Trust, Great Ormond Street, RefLoc London, WC1N 3JH; RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk DB CrossRef BTKbase; A0525 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 67569 Feature /change: +t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1846 Feature /codon: agc -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 572 Feature /change: S -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_V626G(1); standard; MUTATION; TK Accession K00278 Systematic name g.68251T>G, c.1877T>G, r.1877u>g, p.Val626Gly Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0345 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68251 Feature /change: t -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2009 Feature /codon: gta -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 626 Feature /change: V -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Unclear, alpha helix structural implication; ref [2] // ID BTK_#P566X569(1); standard; MUTATION; TK Accession K00279 Systematic name g.67553delG, c.1698delG, r.1698delg, p.Glu567fsX2 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0504 DB CrossRef BTKbase; A0533 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67553 Feature /change: -g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1830 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 566 Feature /change: P -> PKSX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#Y631X648(1); standard; MUTATION; TK Accession K00280 Systematic name g.68265delT, c.1891delT, r.1891delu, p.Tyr631fsX17 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) DB CrossRef BTKbase; A0137 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68265 Feature /change: -t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2023 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 631 Feature /change: Y -> TVVGMRKQMS VPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_E445D(1); standard; MUTATION; TK Accession K00281 Systematic name g.64677A>C, c.1335A>C, r.1335a>c, p.Glu445Asp Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0498 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64677 Feature /change: a -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1467 Feature /codon: gaa -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 445 Feature /change: E -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_F644S(1); standard; MUTATION; TK Accession K00282 Systematic name g.71543T>C, c.1931T>C, r.1931u>c, p.Phe644Ser Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef SWISSCHANGE; BTK_HUMAN_73 DB CrossRef SWISS-PROT; Q06187:644_644 DB CrossRef BTKbase; A0322 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71543 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2063 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 644 Feature /change: F -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#K382X402(1); standard; MUTATION; TK Accession K00283 Systematic name g.63934A>T, c.1145A>T, r.1145a>u, p.Lys382Met Description A point mutation in the exon 13 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0576 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63934 Feature /change: a -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1277 Feature /codon: aag -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 382 Feature /change: K -> M Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M501T(1); standard; MUTATION; TK Accession K00285 Systematic name g.65359T>C, c.1502T>C, r.1502u>c, p.Met501Thr Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12204007 RefCrossRef Human Mutation, Mutation in Brief #531 (2002) Online RefAuthors Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto, RefAuthors J., Vilela, M. M., Miyawaki, T. RefTitle Identification of mutations of bruton's tyrosine kinase RefTitle gene (BTK) in brazilian patients with X-linked RefTitle agammaglobulinemia. RefLoc Hum. Mutat. 20:235-236 (2002) DB CrossRef BTKbase; A0842 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65359 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1634 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 501 Feature /change: M -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@A523X538(1); standard; MUTATION; TK Accession K00287 Systematic name g.66780_66781insA, c.1566_1567insA, r.1566_1567insa, Systematic name p.Ala523fsX13 Description A frame shift insertion mutation in the exon 16 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (01-Oct-2001) to BTKbase. RefLoc Michael Okoh; Department of Biosciences, Division of RefLoc Biochemistry, P. O. Box 56, FIN-00014 University of RefLoc Helsinki, Finland; Tel +358-9-19159682; e-mail RefLoc okoh@helsinki.fi RefNumber [2] RefCrossRef PUBMED; 12442285 RefAuthors Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., RefAuthors Varming, K., Ruuskanen, O., Vihinen, M. RefTitle Novel insertions of bruton tyrosine kinase in patients RefTitle with X-linked agammaglobulinemia. RefLoc Hum Mutat 20:480-481 (2002) DB CrossRef BTKbase; A0796 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 66781 Feature /change: +a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1699 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 523 Feature /change: A -> SSSKLFGKRS RSCX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_G414R(1); standard; MUTATION; TK Accession K00289 Systematic name g.64582G>A, c.1240G>A, r.1240g>a, p.Gly414Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0335 DB CrossRef Swiss-Prot variant; VAR_008313 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64582 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1372 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 414 Feature /change: G -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct G-X-G-X-X-G(414) of the ATP binding site, no kinase Protein struct activity Protein struct ref [2] // ID BTK_Y591X(1); standard; MUTATION; TK Accession K00290 Systematic name g.68147C>A, c.1773C>A, r.1773c>a, p.Tyr591X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [2] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) DB CrossRef OMIM; 300300.0045 DB CrossRef SWISSCHANGE; BTK_HUMAN_59 DB CrossRef SWISS-PROT; Q06187:591_591 DB CrossRef BTKbase; A0098 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68147 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1905 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 591 Feature /change: Y -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_R525G(1); standard; MUTATION; TK Accession K00291 Systematic name g.66787C>G, c.1573C>G, r.1573c>g, p.Arg525Gly Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0500 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66787 Feature /change: c -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1705 Feature /codon: cga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#G556X562(1); standard; MUTATION; TK Accession K00292 Systematic name g.67523delC, c.1668delC, r.1668delc, p.Ser557fsX12 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (03-Oct-2001) to BTKbase. RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama RefLoc Medical and Pharmaceutical University; RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp RefNumber [2] RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I., RefAuthors Futatani, T., Tsukada, S., Miyawaki, T. RefTitle Bruton tyrosine kinase gene mutations in Turkish patients RefTitle with presumed X-linked agammaglobulinemia RefLoc Hum. Mut. 18:356 (2001) DB CrossRef BTKbase; A0760 DB CrossRef BTKbase; A0761 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67523 Feature /change: -c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1800 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 556 Feature /change: G -> GPNFQSGGPH RKSX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_R520G(1); standard; MUTATION; TK Accession K00293 Systematic name g.65415C>G, c.1558C>G, r.1558c>g, p.Arg520Gly Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0888 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65415 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1690 Feature /codon: cga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 Feature /change: R -> G Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_P565L(1); standard; MUTATION; TK Accession K00296 Systematic name g.67549C>T, c.1694C>T, r.1694c>u, p.Pro565Leu Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (28-Dec-2000) to the BTKbase. RefLoc Donn M. Stewart; Metabolism Branch, NCI, NIH, 10 Center RefLoc Drive MSC 1374, Bethesda MD 20892-1374; RefLoc fax: 301-496-9956; e-mail dstew@helix.nih.gov RefNumber [2] RefCrossRef PUBMED; 11286545 RefAuthors Stewart, D. M., Tian, L., Nelson, D. L. RefTitle Mutation screening of the btk gene in 56 families with RefTitle A case of X-linked agammaglobulinemia diagnosed in RefTitle adulthood RefLoc Clin. Immunol. 99:94-99(2001) DB CrossRef BTKbase; A0727 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67549 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1826 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 565 Feature /change: P -> L Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_L518R(1); standard; MUTATION; TK Accession K00299 Systematic name g.65410T>G, c.1553T>G, r.1553u>g, p.Leu518Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (26-Oct-1998) to BTKbase. RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box RefLoc 356320, University of Washington, School of Medicine RefLoc Seattle, WA 98195-6320; fax 206 543 3184; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0539 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65410 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1685 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 518 Feature /change: L -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M630T(1); standard; MUTATION; TK Accession K00300 Systematic name g.68263T>C, c.1889T>C, r.1889u>c, p.Met630Thr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0439 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68263 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2021 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> T Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S575R(1); standard; MUTATION; TK Accession K00301 Systematic name g.67580C>A, c.1725C>A, r.1725c>a, p.Ser575Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (30-May-2001) to BTKbase. RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz. RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095; RefLoc e-mail mcruzgarcia@hulp.insalud.es DB CrossRef BTKbase; A0772 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67580 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1857 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 575 Feature /change: S -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#R492X499(1); standard; MUTATION; TK Accession K00302 Systematic name g.65333delC, c.1476delC, r.1476delc, p.Phe493fsX6 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0433 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65333 Feature /change: -c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1608 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 492 Feature /change: R -> RSRLSSCX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@E636X637(1); standard; MUTATION; TK Accession K00303 Systematic name g.68279dupT, c.1905dupT, r.1905dupu, p.Glu636X Description A duplication mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10612838 RefAuthors Orlandi, P., Ritis, K., Moschese, V., Angelini, F., RefAuthors Arvanitidis, K., Speletas, M., Sideras, P., Plebani, A., RefAuthors Rossi, P. RefTitle Identification of nine novel mutations in the Bruton's RefTitle tyrosine kinase gene in X-linked agammaglobulinemia patients RefLoc Hum. Mutat. 15:117 (2000) DB CrossRef BTKbase; A0624 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: EMBL: U78027: 68280 Feature /change: +t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2038 Feature /codon: gag -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 636 Feature /change: E -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#D401X404(1); standard; MUTATION; TK Accession K00304 Systematic name g.64545delC, c.1203delC, r.1203delc, p.Leu402fsX0 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0885 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 64545 Feature /change: -c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1335 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 401 Feature /change: D -> DX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_#L616-1(1); standard; MUTATION; TK Accession K00306 Systematic name g.68220delC, c.1846delC, r.1846delc, p.Leu616fsX32 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0595 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68220 Feature /change: -c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1978 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 616 Feature /change: L -> STGLIWLQRR YIPSCTVVGM RKQMSVPLSK FFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W581R(1); standard; MUTATION; TK Accession K00307 Systematic name g.67596T>C, c.1741T>C, r.1741u>c, p.Trp581Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) RefNumber [2] RefCrossRef PUBMED; 7849697 RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L. RefAuthors Parolini, O., Rohrer, J. RefTitle Screening of genomic DNA to indentify mutations in the RefTitle gene for Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 3: 1751-1756(1994) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J.E., Rohrer, J., Conley, M.-E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) DB CrossRef BTKbase; A0900 DB CrossRef OMIM; 300300.0043 DB CrossRef SWISSCHANGE; BTK_HUMAN_55 DB CrossRef SWISS-PROT; Q06187:581_581 DB CrossRef BTKbase; A0097 DB CrossRef BTKbase; A0899 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67596 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1873 Feature /codon: tgg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 Feature /change: W -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Destabilization of hydrophobic packing; ref [2] // ID BTK_P566S(1); standard; MUTATION; TK Accession K00308 Systematic name g.67551C>T, c.1696C>T, r.1696c>u, p.Pro566Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11438999 RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira RefAuthors Cerdan, A., Fontan Casariego, G. RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in Spain RefLoc Hum. Mut. 18:84 (2001) DB CrossRef BTKbase; A0740 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67551 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1828 Feature /codon: ccg -> tcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 566 Feature /change: P -> S Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S538P(1); standard; MUTATION; TK Accession K00309 Systematic name g.66826T>C, c.1612T>C, r.1612u>c, p.Ser538Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0894 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66826 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1744 Feature /codon: tct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 538 Feature /change: S -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@Y627X651(1); standard; MUTATION; TK Accession K00310 Systematic name g.68253T>C, c.1879T>C, r.1879u>c, p.Tyr627His Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10887125 RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S., RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M., RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi, RefAuthors K., Kishimoto, T., Miyawaki, T. RefTitle Genetic defect in human X-linked agammaglobulinemia RefTitle impedes a maturational evolution of pro-B cells into a RefTitle later stage of pre-B cells in the B-cell differentiation RefTitle pathway RefLoc Blood 96:610-617(2000) DB CrossRef BTKbase; A0724 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68253 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2011 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 627 Feature /change: Y -> H Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_I429N(1); standard; MUTATION; TK Accession K00311 Systematic name g.64628T>A, c.1286T>A, r.1286u>a, p.Ile429Asn Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8634718 RefAuthors Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., RefAuthors Webster, A. D. B., Smith, C. I. E. RefTitle Improved oligonucleotide primer set for molecular RefTitle diagnosis of X-linked agammaglobulinemia: predominance of RefTitle amino acid substitutions in the catalytic domain of RefTitle Bruton's tyrosine kinase RefLoc Hum. Molec. Genet. 4:2403-2405(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_34 DB CrossRef SWISS-PROT; Q06187:429_429 DB CrossRef BTKbase; A0203 DB CrossRef Swiss-Prot variant; VAR_006241 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64628 Feature /change: t -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1418 Feature /codon: atc -> aac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 429 Feature /change: I -> N Feature /domain: TK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disturbs domain-domain interactions Protein struct ref [2] // ID BTK_#M489X498(2); standard; MUTATION; TK Accession K00312 Systematic name g.65323delT, c.1466delT, r.1466delu, p.Met489fsX10 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9753052 RefAuthors Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., RefAuthors Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., RefAuthors Rossi, P., Kartalis, G., Bourikas, G., Sideras, P. RefTitle Absence of Bruton's tyrosine kinase (Btk) mutations in RefTitle patients with acute myeloid leukaemia RefLoc Br. J. Haematol. 102:1241-1248 (1998) DB CrossRef BTKbase; A0674 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65323 Feature /change: -t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1598 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 489 Feature /change: M -> SATASRLSSC X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_V537E(1); standard; MUTATION; TK Accession K00313 Systematic name g.66824T>A, c.1610T>A, r.1610u>a, p.Val537Glu Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10844531 RefAuthors Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., RefAuthors Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., RefAuthors Komiyama, A., Miyawaki, T. RefTitle Detection of Bruton's tyrosine kinase mutations in RefTitle hypogammaglobulinaemic males registered as common variable RefTitle immunodeficiency (CVID) in the Japanese Immunodeficiency RefTitle Registry RefLoc Clin. Exp. Immunol. 120:512-517(2000) DB CrossRef BTKbase; A0712 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66824 Feature /change: t -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1742 Feature /codon: gta -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 537 Feature /change: V -> E Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R525P(1); standard; MUTATION; TK Accession K00314 Systematic name g.66788G>C, c.1574G>C, r.1574g>c, p.Arg525Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10859027 RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P. RefTitle X-chromosome inactivation and mutation pattern in the RefTitle Bruton's tyrosine kinase gene in patients with X-linked RefTitle agammaglobulinemia. Italian XLA Collaborative Group RefLoc Mol. Med. 6:104-113(2000) RefNumber [2] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [3] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) RefNumber [4] RefCrossRef PUBMED; 14974089 RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher, RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, RefAuthors L. D. RefTitle BTK: 22 novel and 25 recurrent mutations in european RefTitle patients with X-linked agammaglobulinemia. RefLoc Hum Mutat 23:286 (2004) DB CrossRef BTKbase; A0703 DB CrossRef SWISSCHANGE; BTK_HUMAN_47 DB CrossRef SWISS-PROT; Q06187:525_525 DB CrossRef BTKbase; A0119 DB CrossRef BTKbase; A0974 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66788 Feature /change: g -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1706 Feature /codon: cga -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 525 Feature /change: R -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 3; Patients: 3; Homozygotes: 0 Protein struct Distortion of catalytic site Protein struct ref [2] // ID BTK_Q612P(1); standard; MUTATION; TK Accession K00315 Systematic name g.68209A>C, c.1835A>C, r.1835a>c, p.Gln612Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0903 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68209 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1967 Feature /codon: caa -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Q379X(1); standard; MUTATION; TK Accession K00316 Systematic name g.63924C>T, c.1135C>T, r.1135c>u, p.Gln379X Description A point mutation in the exon 13 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (27-Aug-1996) to the BTKbase. RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky; RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen, RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany; RefLoc FAX 498 951 604 928; RefNumber [2] RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336 RefLoc Munchen, Germany; RefNumber [2] RefCrossRef PUBMED; 9445504 RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B., RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R., RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A. RefTitle Mutation screening of the btk gene in 56 families with RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations RefTitle without correlation to clinical course RefLoc Pediatrics 101:276-284(1998) DB CrossRef BTKbase; A0334 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 63924 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1267 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 379 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Truncated protein; ref [2] // ID BTK_#G533X555(1); standard; MUTATION; TK Accession K00317 Systematic name g.66811delG, c.1597delG, r.1597delg, p.Gly533fsX22 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0501 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66811 Feature /change: -g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1729 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 533 Feature /change: G -> ELLKYLISAC PGMSWMMNTQ AQX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_G541D(1); standard; MUTATION; TK Accession K00319 Systematic name g.66836G>A, c.1622G>A, r.1622g>a, p.Gly541Asp Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0895 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66836 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1754 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 541 Feature /change: G -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_#H635X648(1); standard; MUTATION; TK Accession K00321 Systematic name g.68278delA, c.1904delA, r.1904dela, p.His635fsX13 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org RefNumber [2] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A0597 DB CrossRef BTKbase; A1180 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68278 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2036 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 635 Feature /change: H -> LRKQMSVPLS KFFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_C502F(1); standard; MUTATION; TK Accession K00322 Systematic name g.65362G>T, c.1505G>T, r.1505g>u, p.Cys502Phe Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefLoc Submitted (24-May-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_38 DB CrossRef SWISS-PROT; Q06187:502_502 DB CrossRef BTKbase; A0182 DB CrossRef BTKbase; A0183 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65362 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1637 Feature /codon: tgc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 502 Feature /change: C -> F Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 Protein struct Affects stabilizing interactions Protein struct ref [2] Protein struct Affects stabilizing interactions Protein struct ref [2] // ID BTK_L486P(1); standard; MUTATION; TK Accession K00323 Systematic name g.65314T>C, c.1457T>C, r.1457u>c, p.Leu486Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11472359 RefAuthors Futatani, T., Watanabe, C., Baba, Y., Tsukada, S., Ochs, RefAuthors H. D. RefTitle Bruton's tyrosine kinase is present in normal platelets RefTitle and its absence identifies patients with X-linked RefTitle agammaglobulinaemia and carrier females RefLoc Br. J. Haematol. 114:141-149(2001) DB CrossRef BTKbase; A0743 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65314 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1589 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 486 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#I590X648(1); standard; MUTATION; TK Accession K00324 Systematic name g.68142delA, c.1768delA, r.1768dela, p.Ile590fsX58 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12655572 RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M., RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M., RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M., RefAuthors Zelazko, M. RefTitle Bruton tyrosine kinase gene mutations in argentina. RefLoc Hum Mutat 21:451 (2003) DB CrossRef BTKbase; A0902 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68142 Feature /change: -a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1900 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 590 Feature /change: I -> Feature /change: FTPWGRCHMR DLLTVRLLNT LPKAYVSTGL IWLQRRYIPS Feature /change: CTVVGMRKQM SVPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S592P(1); standard; MUTATION; TK Accession K00325 Systematic name g.68148T>C, c.1774T>C, r.1774u>c, p.Ser592Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8834236 RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y. RefTitle Mutations of the Btk gene in 12 unrelated families RefTitle with X-linked agammaglobulinemia in Japan RefLoc Hum. Genet. 97:424-430(1996) DB CrossRef SWISSCHANGE; BTK_HUMAN_60 DB CrossRef SWISS-PROT; Q06187:592_592 DB CrossRef BTKbase; A0219 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68148 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1906 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 592 Feature /change: S -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S592Y(1); standard; MUTATION; TK Accession K00326 Systematic name g.68149C>A, c.1775C>A, r.1775c>a, p.Ser592Tyr Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10844531 RefAuthors Kanegane, H., Tsukada, S., Iwata, T., Futatani, T., RefAuthors Nomura, K., Yamamoto, J., Yoshida, T., Agematsu, K., RefAuthors Komiyama, A., Miyawaki, T. RefTitle Detection of Bruton's tyrosine kinase mutations in RefTitle hypogammaglobulinaemic males registered as common variable RefTitle immunodeficiency (CVID) in the Japanese Immunodeficiency RefTitle Registry RefLoc Clin. Exp. Immunol. 120:512-517(2000) DB CrossRef BTKbase; A0714 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68149 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1907 Feature /codon: tcc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 592 Feature /change: S -> Y Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y485X(1); standard; MUTATION; TK Accession K00327 Systematic name g.65312C>A, c.1455C>A, r.1455c>a, p.Tyr485X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefAuthors Noordzij, J.G. RefTitle Genotypic and phenotypic aspects of primary RefTitle immunodeficiency diseases of the lymphoid system RefLoc Thesis (2002), Erasmus University Rotterdam, RefLoc The Netherlands RefNumber [2] RefCrossRef PUBMED; 11809909 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Comans-Bitter, W. RefAuthors M., Hartwig, N. G., Hendriks, R. W., de Groot, R., van RefAuthors Dongen, J. J. RefTitle Composition of precursor B-cell compartment in bone marrow RefTitle from patients with X-linked agammaglobulinemia compared RefTitle with healthy children. RefLoc Pediatr. Res. 51:159-168 (2002) RefNumber [3] RefCrossRef PUBMED; 12405164 RefAuthors Noordzij, J. G., de Bruin-Versteeg, S., Hartwig, N. G., RefAuthors Weemaes, C. M., Gerritsen, E. J., Bernatowska, E., van RefAuthors Lierde, S., de Groot, R., van Dongen, J. J. RefTitle XLA patients with BTK splice-site mutations produce low RefTitle levels of wild-type BTK transcripts. RefLoc J. Clin. Immunol. 22:306-318 (2002) DB CrossRef BTKbase; A0819 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65312 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1587 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 485 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#L621X648(1); standard; MUTATION; TK Accession K00329 Systematic name g.68237delG, c.1863delG, r.1863delg, p.Ala622fsX26 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (26-Oct-1998) to BTKbase. RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box RefLoc 356320, University of Washington, School of Medicine RefLoc Seattle, WA 98195-6320; fax 206 543 3184; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0536 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68237 Feature /change: -g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1995 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 621 Feature /change: L -> LLQRRYIPSC TVVGMRKQMS VPLSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E589D(1); standard; MUTATION; TK Accession K00330 Systematic name g.68141A>T, c.1767A>T, r.1767a>u, p.Glu589Asp Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7554467 RefAuthors Conley, M. E., Rohrer, J. RefTitle The spectrum of mutations in Btk that cause X-linked RefTitle agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef BTKbase; A0260 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68141 Feature /change: a -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1899 Feature /codon: gaa -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 589 Feature /change: E -> D Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Affects substrate binding Protein struct ref [2] // ID BTK_K430R(1); standard; MUTATION; TK Accession K00331 Systematic name g.64631A>G, c.1289A>G, r.1289a>g, p.Lys430Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8938104 RefAuthors Farrar, J. E., Rohrer, J., Conley, M. E. RefTitle Neutropenia in X-linked agammaglobulinemia RefLoc Clin. Immunol. Immunopathol. 81:271-276(1996) RefNumber [2] RefCrossRef PUBMED; 9545398 RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, RefAuthors Y., Rohrer, J. RefTitle Mutations in Btk patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Am J. Hum. Genet. 62:1034-1043(1998) DB CrossRef BTKbase; A0466 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64631 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1421 Feature /codon: aag -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_G594R(2); standard; MUTATION; TK Accession K00333 Systematic name g.68154G>A, c.1780G>A, r.1780g>a, p.Gly594Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7711734 RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G., RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., RefAuthors Fischer, A., Smith, C. I. E. RefTitle DNA-based mutation analysis of Bruton's tyrosine gene RefTitle in patients with X-linked agammaglobulinemia RefLoc Hum. Molec. Genet. 4:51-58(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_62 DB CrossRef SWISS-PROT; Q06187:594_594 DB CrossRef BTKbase; A0123 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68154 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1912 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 594 Feature /change: G -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Affects substrate binding Protein struct ref [2] // ID BTK_@I610X649(1); standard; MUTATION; TK Accession K00334 Systematic name g.68202_68203insC, c.1828_1829insC, r.1828_1829insc, Systematic name p.Ile610fsX26 Description A frame shift insertion mutation in the exon 18 leading to Description a premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (01-Oct-2001) to BTKbase. RefLoc Michael Okoh; Department of Biosciences, Division of RefLoc Biochemistry, P. O. Box 56, FIN-00014 University of RefLoc Helsinki, Finland; Tel +358-9-19159682; e-mail RefLoc okoh@helsinki.fi RefNumber [2] RefCrossRef PUBMED; 12442285 RefAuthors Okoh, M. P., Kainulainen, L., Heiskanen, K., Isa, M. N., RefAuthors Varming, K., Ruuskanen, O., Vihinen, M. RefTitle Novel insertions of bruton tyrosine kinase in patients RefTitle with X-linked agammaglobulinemia. RefLoc Hum Mutat 20:480-481 (2002) DB CrossRef BTKbase; A0799 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 68203 Feature /change: +c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1961 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 610 Feature /change: I -> TCPRPTSLQA SSGFREGIYH HVQLLAX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#G584X586(1); standard; MUTATION; TK Accession K00335 Systematic name g.67605delG, c.1750delG, r.1750delg, p.Val585fsX1 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (22-Sep-1997) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu DB CrossRef BTKbase; A0453 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67605 Feature /change: -g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1882 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 Feature /change: G -> GFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // ID BTK_P619A(1); standard; MUTATION; TK Accession K00337 Systematic name g.68229C>G, c.1855C>G, r.1855c>g, p.Pro619Ala Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (07-Sep-1997) to the BTKbase. RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH; RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191; RefLoc e-mail T.Lester@ich.ucl.ac.uk DB CrossRef BTKbase; A0438 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68229 Feature /change: c -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1987 Feature /codon: cct -> gct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> A Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M587L(1); standard; MUTATION; TK Accession K00338 Systematic name g.68133A>C, c.1759A>C, r.1759a>c, p.Met587Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7633420 RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., RefAuthors Vorechovsky, I., Hammarstrom, L., RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., RefAuthors Vetrie, D. RefTitle Identification of Btk mutations in 20 unrelated patients RefTitle with X-linked agammaglobulinemia (XLA) RefLoc Hum. Molec. Genet. 4: 693-700(1995) RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_57 DB CrossRef SWISS-PROT; Q06187:587_587 DB CrossRef BTKbase; A0136 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68133 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1891 Feature /codon: atg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 587 Feature /change: M -> L Feature /domain: TK Diagnosis Mild XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Destabilization of hydrophobic packing; ref [2] // ID BTK_C502X(1); standard; MUTATION; TK Accession K00339 Systematic name g.65363C>A, c.1506C>A, r.1506c>a, p.Cys502X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7849721 RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D. RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen RefTitle unrelated X-linked agammaglobulinemia families RefLoc Hum. Molec. Genet. 3:1899-1900(1994) DB CrossRef OMIM; 300300.0034 DB CrossRef BTKbase; A0055 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65363 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1638 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 502 Feature /change: C -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Premature stop // // ID BTK_L569P(1); standard; MUTATION; TK Accession K00341 Systematic name g.67561T>C, c.1706T>C, r.1706u>c, p.Leu569Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (07-Jul-1999) to the BTKbase. RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis, RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977; RefLoc e-mail maryellen.conley@stjude.org DB CrossRef BTKbase; A0588 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67561 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1838 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 569 Feature /change: L -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y418H(1); standard; MUTATION; TK Accession K00342 Systematic name g.64594T>C, c.1252T>C, r.1252u>c, p.Tyr418His Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 28-Oct-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefLoc Submitted (24-May-1995) to the BTKbase. RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of RefLoc Washington, Seattle, WA 98195, USA; RefLoc e-mail allgau@u.washington.edu RefNumber [2] RefCrossRef PUBMED; 7809124 RefAuthors Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu, RefAuthors Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D., RefAuthors Nilsson, L., Sowadski, J. M., Smith, C. I. E. RefTitle Structural basis for chromosome X-linked RefTitle agammaglobulinemia: A tyrosine kinase disease RefLoc Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994) DB CrossRef SWISSCHANGE; BTK_HUMAN_33 DB CrossRef SWISS-PROT; Q06187:418_418 DB CrossRef BTKbase; A0198 DB CrossRef Swiss-Prot variant; VAR_006240 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64594 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1384 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 418 Feature /change: Y -> H Feature /domain: TK Diagnosis Moderate XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Disturbs domain-domain interactions Protein struct ref [2] // ID BTK_D521H(1); standard; MUTATION; TK Accession K00344 Systematic name g.65418G>C, c.1561G>C, r.1561g>c, p.Asp521His Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 22-Sep-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8695804 RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T., RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T., RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., RefAuthors Kishimoto, T. RefTitle Identification of Bruton's tyrosine kinase (Btk) gene RefTitle mutations and characterization of the derived proteins in RefTitle 35 X-linked agammaglobulinemia families: a nationwide RefTitle study of Btk deficiency in Japan RefLoc Blood 88:561-573(1996) RefNumber [2] RefCrossRef PUBMED; 9427714 RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka, RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., RefAuthors Yoshizaki, K., Kishimoto, T. RefTitle Deficient expression of Bruton's tyrosine kinase in RefTitle monocytes from X-linked agammaglobulinemia as evaulated by RefTitle a flow cytometric analysis and its clinical application to RefTitle carrier detection RefLoc Blood 91:595-602(1998) DB CrossRef SWISSCHANGE; BTK_HUMAN_45 DB CrossRef SWISS-PROT; Q06187:521_521 DB CrossRef BTKbase; A0315 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65418 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1693 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 521 Feature /change: D -> H Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MERTK_R651X(1); standard; MUTATION; PK Accession K00345 Systematic name g.110731C>T, c.1951C>T, r.1951c>u, p.Arg651X Description A point mutation in the exon 14 leading to a premature stop Description codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11062461 RefAuthors Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., RefAuthors Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D. RefTitle Mutations in MERTK, the human orthologue of the RCS rat RefTitle retinal dystrophy gene, cause retinitis pigmentosa. RefLoc Nat Genet 26:270-271 (2000) DB CrossRef OMIM; 604705.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MERTK_DNA: 110731 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U08023; GI:10720097; HS08023: 2088 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: MERK_HUMAN: 651 Feature /change: R -> X Feature /domain: PK Diagnosis Retinitis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MERTK_#T690X732(1); standard; MUTATION; PK Accession K00346 Systematic name g.112322delA, c.2070delA, r.2070dela, p.Gly691fsX10 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11062461 RefAuthors Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., RefAuthors Jacobson, S. G., Apfelstedt-Sylla, E., Vollrath, D. RefTitle Mutations in MERTK, the human orthologue of the RCS rat RefTitle retinal dystrophy gene, cause retinitis pigmentosa. RefLoc Nat Genet 26:270-271 (2000) DB CrossRef OMIM; 604705.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: MERTK_DNA: 112322 Feature /change: -a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U08023; GI:10720097; HS08023: 2207 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: MERK_HUMAN: 690 Feature /change: T -> TDQSIFLCRH YX Feature /domain: PK Diagnosis Retinitis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID KIT_R796G(1); standard; MUTATION; PK Accession K00347 Systematic name g.76079A>G, c.2386A>G, r.2386a>g, p.Arg796Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9450866 RefAuthors Spritz, R. A., Beighton, P. RefTitle Piebaldism with deafness: molecular evidence for an RefTitle expanded syndrome. RefLoc Am J Med Genet 75:101-103 (1998) DB CrossRef OMIM; 164920.0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76079 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2407 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 796 Feature /change: R -> G Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_T847P(1); standard; MUTATION; PK Accession K00348 Systematic name g.79537A>C, c.2539A>C, r.2539a>c, p.Thr847Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9699740 RefAuthors Nomura, K., Hatayama, I., Narita, T., Kaneko, T., RefAuthors Shiraishi, M. RefTitle A novel KIT gene missense mutation in a japanese family RefTitle with piebaldism. RefLoc J Invest Dermatol 111:337-338 () DB CrossRef OMIM; 164920.0019 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79537 Feature /change: a -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2560 Feature /codon: acg -> ccg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 847 Feature /change: T -> P Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_D816H(1); standard; MUTATION; PK Accession K00349 Systematic name g.76139G>C, c.2446G>C, r.2446g>c, p.Asp816His Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 10362788 RefAuthors Tian, Q., Frierson, H. F., Krystal, G. W., Moskaluk, C. A. RefTitle Activating c-kit gene mutations in human germ cell tumors. RefLoc Am J Pathol 154:1643-1647 () RefNumber [2] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) RefNumber [3] RefCrossRef PUBMED; 12824871 RefAuthors Sakuma, Y., Sakurai, S., Oguni, S., Hironaka, M., Saito, RefAuthors K. RefTitle Alterations of the c-kit gene in testicular germ cell RefTitle tumors. RefLoc Cancer Sci 94:486-491 (2003) RefNumber [4] RefCrossRef PUBMED; 12701114 RefAuthors Pullarkat, V. A., Bueso-Ramos, C., Lai, R., Kroft, S., RefAuthors Wilson, C. S., Pullarkat, S. T., Bu, X., Thein, M., Lee, RefAuthors M., Brynes, R. K. RefTitle Systemic mastocytosis with associated clonal hematological RefTitle non-mast-cell lineage disease: analysis of RefTitle clinicopathologic features and activating c-kit mutations. RefLoc Am J Hematol 73:12-17 (2003) RefNumber [11] RefCrossRef PUBMED; 16129374 RefAuthors Grimpen, F., Yip, D., McArthur, G., Waring, P., Goldstein, RefAuthors D., Loughrey, M., Beshay, V., Chong, G. RefTitle Resistance to imatinib, low-grade FDG-avidity on PET, and RefTitle acquired KIT exon 17 mutation in gastrointestinal stromal RefTitle tumour. RefLoc Lancet Oncol 6:724-7 DB CrossRef OMIM; 164920.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76139 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2467 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> H Feature /domain: PK Diagnosis Germ cell tumor Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 10; Patients: 10; Homozygotes: 0 // ID KIT_#K642X648(2); standard; MUTATION; PK Accession K00350 Systematic name g.71040delA, c.1924delA, r.1924dela, p.Val643fsX1 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 1279971 RefAuthors Spritz, R. A., Droetto, S., Fukushima, Y. RefTitle Deletion of the KIT and PDGFRA genes in a patient with RefTitle piebaldism. RefLoc Am J Med Genet 44:492-495 () Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71040 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1945 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> KSX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_R791G(1); standard; MUTATION; PK Accession K00351 Systematic name g.76064A>G, c.2371A>G, r.2371a>g, p.Arg791Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7687267 RefAuthors Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W. RefTitle Novel mutations of the KIT (mast/stem cell growth factor RefTitle receptor) proto-oncogene in human piebaldism. RefLoc J Invest Dermatol 101:22-25 () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76064 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2392 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 791 Feature /change: R -> G Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: // ID KIT_G812V(1); standard; MUTATION; PK Accession K00352 Systematic name g.76128G>T, c.2435G>T, r.2435g>u, p.Gly812Val Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7687267 RefAuthors Spritz, R. A., Holmes, S. A., Itin, P., Kuster, W. RefTitle Novel mutations of the KIT (mast/stem cell growth factor RefTitle receptor) proto-oncogene in human piebaldism. RefLoc J Invest Dermatol 101:22-25 () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76128 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2456 Feature /codon: ggt -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 812 Feature /change: G -> V Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 3; Homozygotes: // ID KIT_D816Y(1); standard; MUTATION; PK Accession K00353 Systematic name g.76139G>T, c.2446G>T, r.2446g>u, p.Asp816Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 9657776 RefAuthors Beghini, A., Larizza, L., Cairoli, R., Morra, E. RefTitle C-kit activating mutations and mast cell proliferation in RefTitle human leukemia. RefLoc Blood 92:701-702 () RefNumber [2] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) RefNumber [3] RefCrossRef PUBMED; 16384925 RefAuthors Cairoli, R., Beghini, A., Grillo, G., Nadali, G., Elice, RefAuthors F., Ripamonti, C. B., Colapietro, P., Nichelatti, M., RefAuthors Pezzetti, L., Lunghi, M., Cuneo, A., Viola, A., Ferrara, RefAuthors F., Lazzarino, M., Rodeghiero, F., Pizzolo, G., Larizza, RefAuthors L., Morra, E. RefTitle Prognostic impact of c-KIT mutations in core binding RefTitle factor leukemias: an italian retrospective study. RefLoc Blood:3463-3468 (2006) RefNumber [24] RefCrossRef PUBMED; 19865100 RefAuthors Bodemer, C., Hermine, O., Palmerini, F., Yang, Y., RefAuthors Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., RefAuthors Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., RefAuthors Launay, J. M., Barete, S., Feger, F., Arock, M., Catteau, RefAuthors B., Sans, B., Stalder, J. F., Skowron, F., Thomas, L., RefAuthors Lorette, G., Plantin, P., Bordigoni, P., Lortholary, O., RefAuthors de Prost, Y., Moussy, A., Sobol, H., Dubreuil, P. RefTitle Pediatric mastocytosis is a clonal disease associated with RefTitle D816V and other activating c-KIT mutations. RefLoc J Invest Dermatol 130:804-15 DB CrossRef OMIM; 164920.0018 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76139 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2467 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> Y Feature /domain: PK Diagnosis Acute myeloid leukemia Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID KIT_#E893-4(1); standard; MUTATION; PK Accession K00354 Systematic name g.79787delA, c.2678delA, r.2678dela, p.Glu893fsX9 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the PK domain Date 22-Sep-2003 (Rel. 2, Created) Date 22-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8680409 RefAuthors Riva, P., Milani, N., Gandolfi, P., Larizza, L. RefTitle A 12-bp deletion (7818del12) in the c-kit protooncogene in RefTitle a large italian kindred with piebaldism. RefLoc Hum Mutat 6:343-345 () Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 79787 Feature /change: -a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 2699 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 893 Feature /change: E -> DTHLLKCMTX Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 3; Homozygotes: // ID FGFR3_N540S(1); standard; MUTATION; PK Accession K00355 Systematic name g.12748A>G, c.1619A>G, r.1619a>g, p.Asn540Ser Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10777366 RefAuthors Mortier, G., Nuytinck, L., Craen, M., Renard, J. P., RefAuthors Leroy, J. G., de Paepe, A. RefTitle Clinical and radiographic features of a family with RefTitle hypochondroplasia owing to a novel asn540Ser mutation in RefTitle the fibroblast growth factor receptor 3 gene. RefLoc J Med Genet 37:220-224 (2000) DB CrossRef OMIM; 134934.0023 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12748 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1658 Feature /codon: aac -> agc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 540 Feature /change: N -> S Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 2; Homozygotes: // ID FGFR3_K650N(1); standard; MUTATION; PK Accession K00356 Systematic name g.13269G>T, c.1950G>T, r.1950g>u, p.Lys650Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11055896 RefAuthors Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. RefAuthors A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. RefAuthors S., Webster, M. K., Donoghue, D. J., Francomano, C. A. RefTitle Distinct missense mutations of the FGFR3 lys650 codon RefTitle modulate receptor kinase activation and the severity of RefTitle the skeletal dysplasia phenotype. RefLoc Am J Hum Genet 67:1411-1421 () DB CrossRef OMIM; 134934.0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13269 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1989 Feature /codon: aag -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> N Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 1; Homozygotes: // ID FGFR3_K650N(2); standard; MUTATION; PK Accession K00357 Systematic name g.13269G>C, c.1950G>C, r.1950g>c, p.Lys650Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11055896 RefAuthors Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. RefAuthors A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. RefAuthors S., Webster, M. K., Donoghue, D. J., Francomano, C. A. RefTitle Distinct missense mutations of the FGFR3 lys650 codon RefTitle modulate receptor kinase activation and the severity of RefTitle the skeletal dysplasia phenotype. RefLoc Am J Hum Genet 67:1411-1421 () DB CrossRef OMIM; 134934.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13269 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1989 Feature /codon: aag -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> N Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 3; Patients: 4; Homozygotes: // ID FGFR3_K650Q(1); standard; MUTATION; PK Accession K00358 Systematic name g.13267A>C, c.1948A>C, r.1948a>c, p.Lys650Gln Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11055896 RefAuthors Bellus, G. A., Spector, E. B., Speiser, P. W., Weaver, C. RefAuthors A., Garber, A. T., Bryke, C. R., Israel, J., Rosengren, S. RefAuthors S., Webster, M. K., Donoghue, D. J., Francomano, C. A. RefTitle Distinct missense mutations of the FGFR3 lys650 codon RefTitle modulate receptor kinase activation and the severity of RefTitle the skeletal dysplasia phenotype. RefLoc Am J Hum Genet 67:1411-1421 () RefNumber [38] RefCrossRef PUBMED; 17585316 RefAuthors Hafner, C., Hartmann, A., van Oers, J. M., Stoehr, R., RefAuthors Zwarthoff, E. C., Hofstaedter, F., Landthaler, M., Vogt, RefAuthors T. RefTitle FGFR3 mutations in seborrheic keratoses are already RefTitle present in flat lesions and associated with age and RefTitle localization. RefLoc Mod Pathol 20:895-903 DB CrossRef OMIM; 134934.0022 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13267 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1987 Feature /codon: aag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> Q Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ROR2_W720X(1); standard; MUTATION; STR1 Accession K00359 Systematic name g.226829G>A, c.2160G>A, r.2160g>a, p.Trp720X Description A point mutation in the exon 9 leading to a premature stop Description codon in the STR1 domain Date 24-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10932187 RefAuthors van Bokhoven, H., Celli, J., Kayserili, H., van Beusekom, RefAuthors E., Balci, S., Brussel, W., Skovby, F., Kerr, B., Percin, RefAuthors E. F., Akarsu, N., Brunner, H. G. RefTitle Mutation of the gene encoding the ROR2 tyrosine kinase RefTitle causes autosomal recessive robinow syndrome. RefLoc Nat Genet 25:423-426 () DB CrossRef OMIM; 602337.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 226829 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 2359 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ROR2_HUMAN: 720 Feature /change: W -> X Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 1; Patients: 4; Homozygotes: 4 // ID ROR2_N620K(1); standard; MUTATION; STR1 Accession K00360 Systematic name g.226529T>A, c.1860T>A, r.1860u>a, p.Asn620Lys Description A point mutation in the exon 9 leading to an amino acid Description change in the STR1 domain Date 24-Sep-2003 (Rel. 2, Created) Date 24-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10932186 RefAuthors Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., RefAuthors Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., RefAuthors Patton, M. A., Wilkie, A. O., Jeffery, S. RefTitle Recessive robinow syndrome, allelic to dominant RefTitle brachydactyly type B, is caused by mutation of ROR2. RefLoc Nat Genet 25:419-422 () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 226529 Feature /change: t -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 2059 Feature /codon: aat -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ROR2_HUMAN: 620 Feature /change: N -> K Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID ROR2_Q502X(1); standard; MUTATION; STR1 Accession K00361 Systematic name g.226173C>T, c.1504C>T, r.1504c>u, p.Gln502X Description A point mutation in the exon 9 leading to a premature stop Description codon in the STR1 domain Date 24-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10932186 RefAuthors Afzal, A. R., Rajab, A., Fenske, C. D., Oldridge, M., RefAuthors Elanko, N., Ternes-Pereira, E., Tuysuz, B., Murday, V. A., RefAuthors Patton, M. A., Wilkie, A. O., Jeffery, S. RefTitle Recessive robinow syndrome, allelic to dominant RefTitle brachydactyly type B, is caused by mutation of ROR2. RefLoc Nat Genet 25:419-422 () DB CrossRef OMIM; 602337.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 226173 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 1703 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ROR2_HUMAN: 502 Feature /change: Q -> X Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 7; Patients: 14; Homozygotes: 14 // ID CHEK2_#T367X381(1); standard; MUTATION; PK Accession K00362 Systematic name g.49841delC, c.1100delC, r.1100delc, p.Thr367fsX14 Description A frame shift deletion mutation in the exon 11 leading to a Description premature stop codon in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 11) RefNumber [1] RefCrossRef PUBMED; 10617473 RefAuthors Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., RefAuthors Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, RefAuthors S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., RefAuthors Li, F. P., Garber, J. E., Haber, D. A. RefTitle Heterozygous germ line hCHK2 mutations in li-fraumeni RefTitle syndrome. RefLoc Science 286:2528-2531 () RefNumber [2] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) RefNumber [3] RefCrossRef PUBMED; 11967536 RefAuthors Meijers-Heijboer, H., van den Ouweland, A., Klijn, J., RefAuthors Wasielewski, M., de Snoo, A., Oldenburg, R., Hollestelle, RefAuthors A., Houben, M., Crepin, E., van Veghel-Plandsoen, M., RefAuthors Elstrodt, F., van Duijn, C., Bartels, C., Meijers, C., RefAuthors Schutte, M., McGuffog, L., Thompson, D., Easton, D., RefAuthors Sodha, N., Seal, S., Barfoot, R., Mangion, J., Chang- RefAuthors Claude, J., Eccles, D., Eeles, R., Evans, D. G., Houlston, RefAuthors R., Murday, V., Narod, S., Peretz, T., Peto, J., Phelan, RefAuthors C., Zhang, H. X., Szabo, C., Devilee, P., Goldgar, D., RefAuthors Futreal, P. A., Nathanson, K. L., Weber, B., Rahman, N., RefAuthors Stratton, M. R. RefTitle Low-penetrance susceptibility to breast cancer due to RefTitle CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 RefTitle mutations. RefLoc Nat Genet 31:55-59 (2002) RefNumber [4] RefCrossRef PUBMED; 12094328 RefAuthors Vahteristo, P., Bartkova, J., Eerola, H., Syrjakoski, K., RefAuthors Ojala, S., Kilpivaara, O., Tamminen, A., Kononen, J., RefAuthors Aittomaki, K., Heikkila, P., Holli, K., Blomqvist, C., RefAuthors Bartek, J., Kallioniemi, O. P., Nevanlinna, H. RefTitle A CHEK2 genetic variant contributing to a substantial RefTitle fraction of familial breast cancer. RefLoc Am J Hum Genet 71:432-438 (2002) RefNumber [5] RefCrossRef PUBMED; 14612911 RefAuthors Seppala, E. H., Ikonen, T., Mononen, N., Autio, V., RefAuthors Rokman, A., Matikainen, M. P., Tammela, T. L., Schleutker, RefAuthors J. RefTitle CHEK2 variants associate with hereditary prostate cancer. RefLoc Br J Cancer 89:1966-1970 (2003) RefNumber [6] RefCrossRef PUBMED; 14568168 RefAuthors Lipton, L., Fleischmann, C., Sieber, O. M., Thomas, H. J., RefAuthors Hodgson, S. V., Tomlinson, I. P., Houlston, R. S. RefTitle Contribution of the CHEK2 1100delC variant to risk of RefTitle multiple colorectal adenoma and carcinoma. RefLoc Cancer Lett 200:149-152 (2003) RefNumber [7] RefCrossRef PUBMED; 12529183 RefAuthors Offit, K., Pierce, H., Kirchhoff, T., Kolachana, P., RefAuthors Rapaport, B., Gregersen, P., Johnson, S., Yossepowitch, RefAuthors O., Huang, H., Satagopan, J., Robson, M., Scheuer, L., RefAuthors Nafa, K., Ellis, N. RefTitle Frequency of CHEK2*1100delC in new york breast cancer RefTitle cases and controls. RefLoc BMC Med Genet 4:1 (2003) RefNumber [8] RefCrossRef PUBMED; 14569133 RefAuthors Kilpivaara, O., Laiho, P., Aaltonen, L. A., Nevanlinna, H. RefTitle CHEK2 1100delC and colorectal cancer. RefLoc J Med Genet 40:e110 (2003) DB CrossRef OMIM; 604373.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: CHEK2_DNA: 49841 Feature /change: -c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1136 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CHK2_HUMAN: 367 Feature /change: T -> MILGTPRFWE RPLSX Feature /domain: PK Diagnosis Li-Fraumeni syndrome Diagnosis Breast cancer Diagnosis Hereditary prostate cancer (HPC) Diagnosis Colorectal cancer or risk Diagnosis Hereditary prostate cancer (HPC) Occurrence Families: 175; Patients: 157; Homozygotes: 0 // ID CHEK2_#R474X481(1); standard; MUTATION; PK Accession K00363 Systematic name g.51639delT, c.1422delT, r.1422delu, p.Phe475fsX6 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 24-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10617473 RefAuthors Bell, D. W., Varley, J. M., Szydlo, T. E., Kang, D. H., RefAuthors Wahrer, D. C., Shannon, K. E., Lubratovich, M., Verselis, RefAuthors S. J., Isselbacher, K. J., Fraumeni, J. F., Birch, J. M., RefAuthors Li, F. P., Garber, J. E., Haber, D. A. RefTitle Heterozygous germ line hCHK2 mutations in li-fraumeni RefTitle syndrome. RefLoc Science 286:2528-2531 () DB CrossRef OMIM; 604373.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: CHEK2_DNA: 51639 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1458 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CHK2_HUMAN: 474 Feature /change: R -> RLRQKKPX Feature /domain: PK Diagnosis Li-Fraumeni syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_G857R(1); standard; MUTATION; PK Accession K00364 Systematic name g.30803G>A, c.2569G>A, r.2569g>a, p.Gly857Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) DB CrossRef OMIM; 136352.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 30803 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2590 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 857 Feature /change: G -> R Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 5; Homozygotes: // ID FLT4_R1041P(1); standard; MUTATION; PK Accession K00365 Systematic name g.34082G>C, c.3122G>C, r.3122g>c, p.Arg1041Pro Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) DB CrossRef OMIM; 136352.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34082 Feature /change: g -> c Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3143 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1041 Feature /change: R -> P Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 9; Homozygotes: 0 // ID FLT4_L1044P(1); standard; MUTATION; PK Accession K00366 Systematic name g.34091T>C, c.3131T>C, r.3131u>c, p.Leu1044Pro Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) DB CrossRef OMIM; 136352.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34091 Feature /change: t -> c Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3152 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1044 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 16; Homozygotes: 0 // ID FLT4_P1114L(1); standard; MUTATION; PK Accession K00367 Systematic name g.37445C>T, c.3341C>T, r.3341c>u, p.Pro1114Leu Description A point mutation in the exon 25 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10835628 RefAuthors Karkkainen, M. J., Ferrell, R. E., Lawrence, E. C., Kimak, RefAuthors M. A., Levinson, K. L., McTigue, M. A., Alitalo, K., RefAuthors Finegold, D. N. RefTitle Missense mutations interfere with VEGFR-3 signalling in RefTitle primary lymphoedema. RefLoc Nat Genet 25:153-159 (2000) RefNumber [2] RefCrossRef PUBMED; 9817924 RefAuthors Ferrell, R. E., Levinson, K. L., Esman, J. H., Kimak, M. RefAuthors A., Lawrence, E. C., Barmada, M. M., Finegold, D. N. RefTitle Hereditary lymphedema: evidence for linkage and genetic RefTitle heterogeneity. RefLoc Hum Mol Genet 7:2073-2078 (1998) DB CrossRef OMIM; 136352.0001 DB CrossRef OMIM; 136352.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 37445 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 25 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3362 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1114 Feature /change: P -> L Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID FLT4_H1035R(1); standard; MUTATION; PK Accession K00368 Systematic name g.34064A>G, c.3104A>G, r.3104a>g, p.His1035Arg Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 26-Sep-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 10856194 RefAuthors Irrthum, A., Karkkainen, M. J., Devriendt, K., Alitalo, RefAuthors K., Vikkula, M. RefTitle Congenital hereditary lymphedema caused by a mutation that RefTitle inactivates VEGFR3 tyrosine kinase. RefLoc Am J Hum Genet 67:295-301 (2000) DB CrossRef OMIM; 136352.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34064 Feature /change: a -> g Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3125 Feature /codon: cac -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1035 Feature /change: H -> R Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 5; Homozygotes: // ID STK11_G135R(1); standard; MUTATION; PK Accession K00369 Systematic name g.13439G>C, c.403G>C, r.403g>c, p.Gly135Arg Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10201537 RefAuthors Rowan, A., Bataille, V., MacKie, R., Healy, E., Bicknell, RefAuthors D., Bodmer, W., Tomlinson, I. RefTitle Somatic mutations in the peutz-jeghers (LKB1/STKII) gene RefTitle in sporadic malignant melanomas. RefLoc J Invest Dermatol 112:509-511 (1999) DB CrossRef OMIM; 602216.0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 13439 Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 741 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 135 Feature /change: G -> R Feature /domain: PK Diagnosis Sporadic malignant melanoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_D194V(1); standard; MUTATION; PK Accession K00370 Systematic name g.14576A>T, c.581A>T, r.581a>u, p.Asp194Val Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10079245 RefAuthors Avizienyte, E., Loukola, A., Roth, S., Hemminki, A., RefAuthors Tarkkanen, M., Salovaara, R., Arola, J., Butzow, R., RefAuthors Husgafvel-Pursiainen, K., Kokkola, A., Jarvinen, H., RefAuthors Aaltonen, L. A. RefTitle LKB1 somatic mutations in sporadic tumors. RefLoc Am J Pathol 154:677-681 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14576 Feature /change: a -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 919 Feature /codon: gac -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 194 Feature /change: D -> V Feature /domain: PK Diagnosis Sporadic malignant melanoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_#H107-2(1); standard; MUTATION; PK Accession K00371 Systematic name g.12534delC, c.321delC, r.321delc, p.His107fsX21 Description A frame shift deletion mutation in the exon 2 leading to a Description premature stop codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10353780 RefLoc : () Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 12534 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 659 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 107 Feature /change: H -> QKMSSSWWMC YTTKRSRKCI WX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_K108R(1); standard; MUTATION; PK Accession K00372 Systematic name g.12536A>G, c.323A>G, r.323a>g, p.Lys108Arg Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10353780 RefLoc : () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12536 Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 661 Feature /codon: aaa -> aga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 108 Feature /change: K -> R Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_E256A(1); standard; MUTATION; PK Accession K00373 Systematic name g.15332A>C, c.767A>C, r.767a>c, p.Glu256Ala Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10780518 RefAuthors Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. RefAuthors Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., RefAuthors Park, J. G. RefTitle Germline mutations of the STK11 gene in korean peutz- RefTitle jeghers syndrome patients. RefLoc Br J Cancer 82:1403-1406 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15332 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1105 Feature /codon: gaa -> gca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 256 Feature /change: E -> A Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_S232P(1); standard; MUTATION; PK Accession K00374 Systematic name g.14764T>C, c.694T>C, r.694u>c, p.Ser232Pro Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 29-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10780518 RefAuthors Yoon, K. A., Ku, J. L., Choi, H. S., Heo, S. C., Jeong, S. RefAuthors Y., Park, Y. J., Kim, N. K., Kim, J. C., Jung, P. M., RefAuthors Park, J. G. RefTitle Germline mutations of the STK11 gene in korean peutz- RefTitle jeghers syndrome patients. RefLoc Br J Cancer 82:1403-1406 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14764 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1032 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 232 Feature /change: S -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 2; Homozygotes: // ID STK11_R297K(1); standard; MUTATION; PK Accession K00375 Systematic name g.16063G>A, c.890G>A, r.890g>a, p.Arg297Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10408777 RefAuthors Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., RefAuthors de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., RefAuthors Halley, D. J., de Rooij, F. W., Wilson, J. H. RefTitle Novel mutations in the LKB1/STK11 gene in dutch peutz- RefTitle jeghers families. RefLoc Hum Mutat 13:476-481 (1999) RefNumber [2] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 16063 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1228 Feature /codon: agg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 297 Feature /change: R -> K Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_D194N(1); standard; MUTATION; PK Accession K00376 Systematic name g.14575G>A, c.580G>A, r.580g>a, p.Asp194Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10408777 RefAuthors Westerman, A. M., Entius, M. M., Boor, P. P., Koole, R., RefAuthors de Baar, E., Offerhaus, G. J., Lubinski, J., Lindhout, D., RefAuthors Halley, D. J., de Rooij, F. W., Wilson, J. H. RefTitle Novel mutations in the LKB1/STK11 gene in dutch peutz- RefTitle jeghers families. RefLoc Hum Mutat 13:476-481 (1999) RefNumber [2] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [5] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14575 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 918 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 194 Feature /change: D -> N Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 4; Patients: 7; Homozygotes: 0 // ID STK11_@D53X162(1); standard; MUTATION; PK Accession K00377 Systematic name g.1157dupG, c.157dupG, r.157dupg, p.Asp53fsX109 Description A frame shift duplication mutation in the exon 1 leading to Description a premature stop codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9934767 RefAuthors Trojan, J., Brieger, A., Raedle, J., Roth, W. K., Zeuzem, RefAuthors S. RefTitle Peutz-jeghers syndrome: molecular analysis of a three- RefTitle generation kindred with a novel defect in the serine RefTitle threonine kinase gene STK11. RefLoc Am J Gastroenterol 94:257-261 (1999) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [6] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 1158 Feature /change: +g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 496 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 53 Feature /change: D -> Feature /change: GPAGGRLLRQ GEGGAGLGDA VQEGRQDPQE EEVAKDPQRG Feature /change: GQREEGNSTT EEVTAQKCHP AGGCVIQRRE AENVYGDGVL Feature /change: RVWHAGNAGQ RAGEAFPSVP GPRVLLSADX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 7; Homozygotes: 0 // ID ACVRL1_S333I(1); standard; MUTATION; PK Accession K00378 Systematic name g.3976G>T, c.998G>T, r.998g>u, p.Ser333Ile Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3976 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1280 Feature /codon: agc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 333 Feature /change: S -> I Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_C308X(1); standard; MUTATION; PK Accession K00379 Systematic name g.3902C>A, c.924C>A, r.924c>a, p.Cys308X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 RefNumber [6] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 RefNumber [8] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3902 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1206 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 308 Feature /change: C -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID ACVRL1_@L289X391(1); standard; MUTATION; PK Accession K00380 Systematic name g.3842dupT, c.864dupT, r.864dupu, p.Leu289fsX102 Description A frame shift duplication mutation in the exon 6 leading to Description a premature stop codon in the PK domain Date 29-Sep-2003 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9245985 RefAuthors Berg, J. N., Gallione, C. J., Stenzel, T. T., Johnson, D. RefAuthors W., Allen, W. P., Schwartz, C. E., Jackson, C. E., RefAuthors Porteous, M. E., Marchuk, D. A. RefTitle The activin receptor-like kinase 1 gene: genomic structure RefTitle and mutations in hereditary hemorrhagic telangiectasia RefTitle type 2. RefLoc Am J Hum Genet 61:60-67 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ACVRL1_DNA: 3843 Feature /change: +t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1147 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 289 Feature /change: L -> Feature /change: SAETDAGAPS GSEASCVRGM RPGAPARGDL RYTGQTSHCP Feature /change: PRLQEPQCAG QEQPAVLHRR PGPGCDALTG QRLPGHRQQP Feature /change: ESGHQAVHGT RGAGRADPHG LLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: // ID JAK3_V722I(1); standard; MUTATION; PK1 Accession K00381 Systematic name g.14105G>A, c.2164G>A, r.2164g>a, p.Val722Ile Description A point mutation in the exon 16 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [2] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [3] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0012 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14105 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2259 Feature /codon: gtc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 722 Feature /change: V -> I Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 1; Sterical clash in core ref [2] // ID JAK3_C565X(1); standard; MUTATION; PK1 Accession K00382 Systematic name g.11054C>A, c.1695C>A, r.1695c>a, p.Cys565X Description A point mutation in the exon 12 leading to a premature stop Description codon in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7481768 RefAuthors Russell, S. M., Tayebi, N., Nakajima, H., Riedy, M. C., RefAuthors Roberts, J. L., Aman, M. A., Migone, T.-S., Noguchi, M., RefAuthors Markert, M. L., Buckley, R. H., O'Shea, J. J., RefAuthors Leonard, W. J. RefTitle Mutation of Jak3 in a patient with SCID: Essential role of RefTitle Jak3 in lymphoid development RefLoc Science 270:797-800 (1995) RefNumber [2] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef OMIM; 600173.0003 DB CrossRef OMIM; 600173.0004 DB CrossRef JAK3base; J0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 11054 Feature /change: c -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 1790 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 565 Feature /change: C -> X Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID JAK3_R651W(1); standard; MUTATION; PK1 Accession K00383 Systematic name g.13813C>T, c.1951C>T, r.1951c>u, p.Arg651Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0018 DB CrossRef JAK3base; J0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 13813 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2046 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 651 Feature /change: R -> W Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 2 Comment -!-In one patient is in trans with E694K // ID JAK3_E694K(1); standard; MUTATION; PK1 Accession K00384 Systematic name g.14021G>A, c.2080G>A, r.2080g>a, p.Glu694Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14021 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2175 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 694 Feature /change: E -> K Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-In one patient is in trans with R651W // ID JAK3_P689S(1); standard; MUTATION; PK1 Accession K00386 Systematic name g.14006C>T, c.2065C>T, r.2065c>u, p.Pro689Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0017 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14006 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2160 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 689 Feature /change: P -> S Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID JAK3_Q766X(1); standard; MUTATION; PK1 Accession K00387 Systematic name g.14367C>T, c.2296C>T, r.2296c>u, p.Gln766X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0019 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14367 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2391 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 766 Feature /change: Q -> X Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID JAK3_C759R(1); standard; MUTATION; PK1 Accession K00388 Systematic name g.14346T>C, c.2275T>C, r.2275u>c, p.Cys759Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9354668 RefAuthors Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S., RefAuthors Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., RefAuthors Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P., RefAuthors Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J., RefAuthors Villa, A. RefTitle Structural and functional basis for JAK3-deficient severe RefTitle combined immunodeficiency RefLoc Blood 90:3996-4003 (1997) RefNumber [2] RefCrossRef PUBMED; 10419614 RefAuthors Schumacher, R. F., Mella, P., Lalatta, F., Fiorini, M., RefAuthors Giliani, S., Villa, A., Candotti, F., Notarangelo, L. D. RefTitle Prenatal diagnosis of JAK3 deficient SCID RefLoc Prenat. Diagn. 19:653-656(1999) RefNumber [3] RefCrossRef PUBMED; 10629052 RefAuthors Chen, M., Cheng, A., Candotti, F., Zhou, Y. J., Hymel, A., RefAuthors Fasth, A., Notarangelo, L. D., O'Shea, J. J. RefTitle Complex effects of naturally occurring mutations in the RefTitle JAK3 pseudokinase domain: evidence for interactions RefTitle between the kinase and pseudokinase domains RefLoc Mol. Cell. Biol. 20:947-956(2000) RefNumber [4] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [5] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [6] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14346 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2370 Feature /codon: tgc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 759 Feature /change: C -> R Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 2; Sterical clash ref [5] // ID JAK3_G589V(1); standard; MUTATION; PK1 Accession K00391 Systematic name g.11843C>T, c.1766C>T, r.1766c>u, p.Gly589Val Description A point mutation in the exon 13 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9354668 RefAuthors Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S., RefAuthors Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., RefAuthors Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P., RefAuthors Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J., RefAuthors Villa, A. RefTitle Structural and functional basis for JAK3-deficient severe RefTitle combined immunodeficiency RefLoc Blood 90:3996-4003 (1997) RefNumber [2] RefCrossRef PUBMED; 10629052 RefAuthors Chen, M., Cheng, A., Candotti, F., Zhou, Y. J., Hymel, A., RefAuthors Fasth, A., Notarangelo, L. D., O'Shea, J. J. RefTitle Complex effects of naturally occurring mutations in the RefTitle JAK3 pseudokinase domain: evidence for interactions RefTitle between the kinase and pseudokinase domains RefLoc Mol. Cell. Biol. 20:947-956(2000) RefNumber [3] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [4] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [5] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 11843 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 1861 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 589 Feature /change: G -> V Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 1 Protein struct Allele 1 and 2; Fold alteration ref [4] // ID JAK3_R582W(1); standard; MUTATION; PK1 Accession K00392 Systematic name g.11821C>T, c.1744C>T, r.1744c>u, p.Arg582Trp Description A point mutation in the exon 13 leading to an amino acid Description change in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 785357 RefAuthors Geha, R. S., Malakian, A., LeFranc, G., Chayban, D., RefAuthors Serre, J. L. RefTitle Immunologic reconstitution in severe combined RefTitle immunodeficiency following transplantation with parental RefTitle bone marrow RefLoc Pediatrics 58:451-455(1976) RefNumber [2] RefCrossRef PUBMED; 9753072 RefAuthors Bozzi, F., Lefranc, G., Villa, A., Badolato, R., RefAuthors Schumacher, R. F., Khalil, G., Loislet, J., Bresciani, RefAuthors S., O'Shea, J. J., Vezzoni, P., Notarangelo, L. D., RefAuthors Candotti, F. RefTitle Molecular and biochemical characterization of JAK3 RefTitle deficiency in a patient with severe combined RefTitle immunodeficiency over 20 years after bone marrow RefTitle transplantation: implications for treatment RefLoc Br. J. Haematol 102: 1363-6 (1998) RefNumber [3] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [4] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [5] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 11821 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1708581; U09607: 1839 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 582 Feature /change: R -> W Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 1 and 2; Altered ligand interaction ref [3] // ID JAK3_R771X(1); standard; MUTATION; PK1 Accession K00394 Systematic name g.14382C>T, c.2311C>T, r.2311c>u, p.Arg771X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK1 domain Date 30-Sep-2003 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency RefNumber [2] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) DB CrossRef JAK3base; J0022 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14382 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2406 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 771 Feature /change: R -> X Feature /domain: PK1 Diagnosis T-B+ severe combined immunodeficiency Diagnosis T-B+ severe combined immunodeficiency Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID JAK3dom2_#C1024X1037(1); standard; MUTATION; PK2 Accession K00395 Systematic name g.18465delC, c.3072delC, r.3072delc, p.Cys1024fsX13 Description A frame shift deletion mutation in the exon 22 leading to a Description premature stop codon in the PK2 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [2] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: JAK3_DNA: 18465 Feature /change: -c Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U09607; GI:1177044; U09607: 3167 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 1024 Feature /change: C -> WTKAAAPRPS SCGX Feature /domain: PK2 Diagnosis T-B+ severe combined immunodeficiency; mild phenotype Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 2; Truncation ref [1] // ID JAK3dom2_L910S(1); standard; MUTATION; PK2 Accession K00398 Systematic name g.17242T>C, c.2729T>C, r.2729u>c, p.Leu910Ser Description A point mutation in the exon 20 leading to an amino acid Description change in the PK2 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982185 RefAuthors Schumacher, R. F., Mella, P., Badolato, R., Fiorini, M., RefAuthors Savoldi, G., Giliani, S., Villa, A., Candotti, F., RefAuthors Tampalini, A., O'Shea, J. J., Notarangelo, L. D. RefTitle Complete genomic organization of the human JAK3 gene and RefTitle mutation analysis in severe combined immunodeficiency by RefTitle single-strand conformation polymorphism RefLoc Hum. Genet. 106:73-79(2000) RefNumber [2] RefCrossRef PUBMED; 10900158 RefAuthors Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., RefAuthors Savoldi, G., O'Shea, J. J., Candotti, F., Notarangelo, RefAuthors L. D. RefTitle Molecular modeling of the Jak3 kinase domains and RefTitle structural basis for severe combined immunodeficiency RefLoc Clin. Immunol. 96:108-118(2000) RefNumber [3] RefAuthors Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, RefAuthors G., Savoldi, G., Cranston, T., Vihinen, M., Schumacher, R. RefAuthors F. RefTitle Mutations in severe combined immune deficiency due to JAK3 RefTitle deficiency DB CrossRef JAK3base; J0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 17242 Feature /change: t -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U09607; GI:1177044; U09607: 2824 Feature /codon: ttg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: JAK3_HUMAN: 910 Feature /change: L -> S Feature /domain: PK2 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct Allele 2; Truncation ref [2] // ID JAK3dom2_Y1023X(1); standard; MUTATION; PK2 Accession K00399 Systematic name g.18462C>A, c.3069C>A, r.3069c>a, p.Tyr1023X Description A point mutation in the exon 22 leading to a premature stop Description codon in the PK2 domain Date 30-Sep-2003 (Rel. 2, Created) Date 30-Sep-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 18462 Feature /change: c -> a Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1177044; U09607: 3164 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 1023 Feature /change: Y -> X Feature /domain: PK2 Diagnosis T-B+ severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_L74F(1); standard; MUTATION; PK1 Accession K00400 Systematic name g.58792A>C, c.222A>C, r.222a>c, p.Leu74Phe Description A point mutation in the exon 3 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58792 Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 222 Feature /codon: tta -> ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 74 Feature /change: L -> F Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_G80R(1); standard; MUTATION; PK1 Accession K00401 Systematic name g.58808G>A, c.238G>A, r.238g>a, p.Gly80Arg Description A point mutation in the exon 3 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58808 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 238 Feature /codon: gga -> aga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 80 Feature /change: G -> R Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_R114W(1); standard; MUTATION; PK1 Accession K00402 Systematic name g.72970C>T, c.340C>T, r.340c>u, p.Arg114Trp Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10094187 RefAuthors Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., RefAuthors Hanauer, A., Schwartz, C. E. RefTitle Novel mutations in rsk-2, the gene for coffin-lowry RefTitle syndrome (CLS). RefLoc Eur J Hum Genet 7:20-26 (1999) DB CrossRef OMIM; 300075.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72970 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 340 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 114 Feature /change: R -> W Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RPS6KA3_R119P(1); standard; MUTATION; PK1 Accession K00403 Systematic name g.72986G>C, c.356G>C, r.356g>c, p.Arg119Pro Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72986 Feature /change: g -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 356 Feature /codon: cgt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 119 Feature /change: R -> P Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_I189K(1); standard; MUTATION; PK1 Accession K00404 Systematic name g.74587T>A, c.566T>A, r.566u>a, p.Ile189Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10528858 RefAuthors Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., RefAuthors Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., RefAuthors Croquette, M. F., Hanauer, A. RefTitle Unreported RSK2 missense mutation in two male sibs with an RefTitle unusually mild form of coffin-lowry syndrome. RefLoc J Med Genet 36:775-778 (1999) DB CrossRef OMIM; 300075.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 74587 Feature /change: t -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 566 Feature /codon: ata -> aaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 189 Feature /change: I -> K Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_D193N(1); standard; MUTATION; PK1 Accession K00405 Systematic name g.74598G>A, c.577G>A, r.577g>a, p.Asp193Asn Description A point mutation in the exon 7 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 74598 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 577 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 193 Feature /change: D -> N Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_T231I(1); standard; MUTATION; PK1 Accession K00406 Systematic name g.80191C>T, c.692C>T, r.692c>u, p.Thr231Ile Description A point mutation in the exon 9 leading to an amino acid Description change in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9832033 RefAuthors Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., RefAuthors Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, RefAuthors W., Hanauer, A. RefTitle Rapid immunoblot and kinase assay tests for a syndromal RefTitle form of X linked mental retardation: coffin-lowry RefTitle syndrome. RefLoc J Med Genet 35:890-894 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80191 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 692 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 231 Feature /change: T -> I Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_E69X(1); standard; MUTATION; PK1 Accession K00407 Systematic name g.58775G>T, c.205G>T, r.205g>u, p.Glu69X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 58775 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 205 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 69 Feature /change: E -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_Q269X(1); standard; MUTATION; PK1 Accession K00408 Systematic name g.81765C>T, c.805C>T, r.805c>u, p.Gln269X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81765 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 805 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 269 Feature /change: Q -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_R243X(1); standard; MUTATION; PK1 Accession K00409 Systematic name g.80226C>T, c.727C>T, r.727c>u, p.Arg243X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 80226 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 727 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 243 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3_L311X(1); standard; MUTATION; PK1 Accession K00410 Systematic name g.91103T>A, c.932T>A, r.932u>a, p.Leu311X Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9832033 RefAuthors Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., RefAuthors Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, RefAuthors W., Hanauer, A. RefTitle Rapid immunoblot and kinase assay tests for a syndromal RefTitle form of X linked mental retardation: coffin-lowry RefTitle syndrome. RefLoc J Med Genet 35:890-894 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91103 Feature /change: t -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 932 Feature /codon: tta -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 311 Feature /change: L -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_K451N(1); standard; MUTATION; PK2 Accession K00411 Systematic name g.95355G>C, c.1353G>C, r.1353g>c, p.Lys451Asn Description A point mutation in the exon 15 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95355 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1353 Feature /codon: aag -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 451 Feature /change: K -> N Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_L467R(1); standard; MUTATION; PK2 Accession K00412 Systematic name g.98656T>G, c.1400T>G, r.1400u>g, p.Leu467Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98656 Feature /change: t -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1400 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 467 Feature /change: L -> R Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_N475D(1); standard; MUTATION; PK2 Accession K00413 Systematic name g.98679A>G, c.1423A>G, r.1423a>g, p.Asn475Asp Description A point mutation in the exon 16 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98679 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1423 Feature /codon: aac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 475 Feature /change: N -> D Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_V492G(1); standard; MUTATION; PK2 Accession K00414 Systematic name g.100385T>G, c.1475T>G, r.1475u>g, p.Val492Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100385 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1475 Feature /codon: gta -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 492 Feature /change: V -> G Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID RPS6KA3dom2_M496R(1); standard; MUTATION; PK2 Accession K00415 Systematic name g.100397T>G, c.1487T>G, r.1487u>g, p.Met496Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100397 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1487 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 496 Feature /change: M -> R Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_H537L(1); standard; MUTATION; PK2 Accession K00416 Systematic name g.103048A>T, c.1610A>T, r.1610a>u, p.His537Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103048 Feature /change: a -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1610 Feature /codon: cat -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 537 Feature /change: H -> L Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_N544K(1); standard; MUTATION; PK2 Accession K00417 Systematic name g.103070C>A, c.1632C>A, r.1632c>a, p.Asn544Lys Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103070 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1632 Feature /codon: aac -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 544 Feature /change: N -> K Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_P587S(1); standard; MUTATION; PK2 Accession K00418 Systematic name g.103197C>T, c.1759C>T, r.1759c>u, p.Pro587Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103197 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1759 Feature /codon: cca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 587 Feature /change: P -> S Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID RPS6KA3dom2_N620D(1); standard; MUTATION; PK2 Accession K00419 Systematic name g.106356A>G, c.1858A>G, r.1858a>g, p.Asn620Asp Description A point mutation in the exon 20 leading to an amino acid Description change in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 106356 Feature /change: a -> g Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1858 Feature /codon: aat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 620 Feature /change: N -> D Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID RPS6KA3dom2_Q567X(1); standard; MUTATION; PK2 Accession K00420 Systematic name g.103137C>T, c.1699C>T, r.1699c>u, p.Gln567X Description A point mutation in the exon 18 leading to a premature stop Description codon in the PK2 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11180593 RefAuthors Delaunoy, J., Abidi, F., Zeniou, M., Jacquot, S., RefAuthors Merienne, K., Pannetier, S., Schmitt, M., Schwartz, C., RefAuthors Hanauer, A. RefTitle Mutations in the X-linked RSK2 gene (RPS6KA3) in patients RefTitle with coffin-lowry syndrome. RefLoc Hum Mutat 17:103-116 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103137 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1699 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 567 Feature /change: Q -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID RPS6KA3dom2_R273X(1); standard; MUTATION; PK1 Accession K00421 Systematic name g.81777C>T, c.817C>T, r.817c>u, p.Arg273X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK1 domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9837815 RefAuthors Jacquot, S., Merienne, K., De Cesare, D., Pannetier, S., RefAuthors Mandel, J. L., Sassone-Corsi, P., Hanauer, A. RefTitle Mutation analysis of the RSK2 gene in coffin-lowry RefTitle patients: extensive allelic heterogeneity and a high rate RefTitle of de novo mutations. RefLoc Am J Hum Genet 63:1631-1640 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 81777 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 817 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 273 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: // ID TEK_Y897S(1); standard; MUTATION; PK Accession K00422 Systematic name g.55887A>C, c.2690A>C, r.2690a>c, p.Tyr897Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10369874 RefAuthors Calvert, J. T., Riney, T. J., Kontos, C. D., Cha, E. H., RefAuthors Prieto, V. G., Shea, C. R., Berg, J. N., Nevin, N. C., RefAuthors Simpson, S. A., Pasyk, K. A., Speer, M. C., Peters, K. G., RefAuthors Marchuk, D. A. RefTitle Allelic and locus heterogeneity in inherited venous RefTitle malformations. RefLoc Hum Mol Genet 8:1279-1289 (1999) RefNumber [2] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 RefNumber [3] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 DB CrossRef OMIM; 600221.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55887 Feature /change: a -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838 Feature /codon: tac -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 897 Feature /change: Y -> S Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Diagnosis Occurrence Families: 3; Patients: 8; Homozygotes: 0 // ID NTRK1_G516R(1); standard; MUTATION; PK Accession K00423 Systematic name g.16208G>A, c.1546G>A, r.1546g>a, p.Gly516Arg Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16208 Feature /change: g -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1666 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 516 Feature /change: G -> R Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: // ID NTRK1_R596X(1); standard; MUTATION; PK Accession K00424 Systematic name g.16637C>T, c.1786C>T, r.1786c>u, p.Arg596X Description A point mutation in the exon 13 leading to a premature stop Description codon in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16637 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1906 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 596 Feature /change: R -> X Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 2; Patients: 2; Homozygotes: // ID NTRK1_R648C(1); standard; MUTATION; PK Accession K00425 Systematic name g.19342C>T, c.1942C>T, r.1942c>u, p.Arg648Cys Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19342 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2062 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 648 Feature /change: R -> C Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 2; Patients: 2; Homozygotes: // ID NTRK1_D668Y(1); standard; MUTATION; PK Accession K00426 Systematic name g.19402G>T, c.2002G>T, r.2002g>u, p.Asp668Tyr Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 19402 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2122 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 668 Feature /change: D -> Y Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 4; Patients: 4; Homozygotes: // ID NTRK1_@R771X860(1); standard; MUTATION; PK Accession K00427 Systematic name g.21645dupT, c.2310dupT, r.2310dupu, p.Arg771fsX89 Description A frame shift duplication mutation in the exon 16 leading Description to a premature stop codon in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 02-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10982191 RefAuthors Miura, Y., Mardy, S., Awaya, Y., Nihei, K., Endo, F., RefAuthors Matsuda, I., Indo, Y. RefTitle Mutation and polymorphism analysis of the TRKA (NTRK1) RefTitle gene encoding a high-affinity receptor for nerve growth RefTitle factor in congenital insensitivity to pain with RefTitle anhidrosis (CIPA) families. RefLoc Hum Genet 106:116-124 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: NTRK1_DNA: 21646 Feature /change: +t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2431 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 771 Feature /change: V -> Feature /change: CARPAASPGP GTSCLPGCPG LGGRPRGWEW LAGILGPALS Feature /change: IPHSSQQPQG DLEVSNSPSA CGKGQVGAGS RGCSCFSRQG Feature /change: PVIAIIFIIP Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: // ID NTRK1_R774P(1); standard; MUTATION; PK Accession K00428 Systematic name g.21656G>C, c.2321G>C, r.2321g>c, p.Arg774Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10090906 RefAuthors Greco, A., Villa, R., Tubino, B., Romano, L., Penso, D., RefAuthors Pierotti, M. A. RefTitle A novel NTRK1 mutation associated with congenital RefTitle insensitivity to pain with anhidrosis. RefLoc Am J Hum Genet 64:1207-1210 (1999) DB CrossRef OMIM; 191315.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 21656 Feature /change: g -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2441 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 774 Feature /change: R -> P Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 7; Homozygotes: 1 // ID NTRK1_P689L(1); standard; MUTATION; PK Accession K00429 Systematic name g.20102C>T, c.2066C>T, r.2066c>u, p.Pro689Leu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10861667 RefAuthors Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, RefAuthors E., Herzog, L., Shorer, Z., Luder, A., Parvari, R. RefTitle Congenital insensitivity to pain with anhidrosis (CIPA) in RefTitle israeli-bedouins: genetic heterogeneity, novel mutations RefTitle in the TRKA/NGF receptor gene, clinical findings, and RefTitle results of nerve conduction studies. RefLoc Am J Med Genet 92:353-360 (2000) DB CrossRef OMIM; 191315.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 20102 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2186 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 689 Feature /change: P -> L Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 3; Homozygotes: // ID NTRK1_@E615X626(1); standard; MUTATION; PK Accession K00430 Systematic name g.19242_19243insT, c.1842_1843insT, r.1842_1843insu, Systematic name p.Glu615fsX11 Description A frame shift insertion mutation in the exon 14 leading to Description a premature stop codon in the PK domain Date 02-Oct-2003 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10861667 RefAuthors Shatzky, S., Moses, S., Levy, J., Pinsk, V., Hershkovitz, RefAuthors E., Herzog, L., Shorer, Z., Luder, A., Parvari, R. RefTitle Congenital insensitivity to pain with anhidrosis (CIPA) in RefTitle israeli-bedouins: genetic heterogeneity, novel mutations RefTitle in the TRKA/NGF receptor gene, clinical findings, and RefTitle results of nerve conduction studies. RefLoc Am J Med Genet 92:353-360 (2000) DB CrossRef OMIM; 191315.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: NTRK1_DNA: 19243 Feature /change: +t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1963 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 615 Feature /change: P -> SPGSGAAAGR GX Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 10; Patients: 10; Homozygotes: 10 // ID IRAK4_Q293X(1); standard; MUTATION; PK Accession K00431 Systematic name g.21175C>T, c.877C>T, r.877c>u, p.Gln293X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 08-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 12637671 RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J., RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies, RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al- RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R., RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S., RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A., RefAuthors Ozinsky, A., Casanova, J. L. RefTitle Pyogenic bacterial infections in humans with IRAK-4 RefTitle deficiency. RefLoc Science 299:2076-2079 (2003) RefNumber [2] RefCrossRef PUBMED; 12925671 RefAuthors Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J. RefAuthors C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I., RefAuthors Vogel, S. N. RefTitle Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to RefTitle lipopolysaccharide and interleukin-1 in a patient with RefTitle recurrent bacterial infections. RefLoc J Exp Med 198:521-531 (2003) DB CrossRef IRAK4base; I0002 DB CrossRef IRAK4base; I0003 DB CrossRef OMIM; 606883.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AY186092: 21175 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 926 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: Q8TDF7: 293 Feature /change: Q -> X Feature /domain: PK Diagnosis IRAK4 deficiency Occurrence Families: 4; Patients: 4; Homozygotes: 2 // ID IRAK4_#L274X287(1); standard; MUTATION; PK Accession K00432 Systematic name g.20671delT, c.821delT, r.821delu, p.Leu274fsX13 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 08-Oct-2003 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12637671 RefAuthors Picard, C., Puel, A., Bonnet, M., Ku, C. L., Bustamante, RefAuthors J., Yang, K., Soudais, C., Dupuis, S., Feinberg, J., RefAuthors Fieschi, C., Elbim, C., Hitchcock, R., Lammas, D., Davies, RefAuthors G., Al-Ghonaium, A., Al-Rayes, H., Al-Jumaah, S., Al- RefAuthors Hajjar, S., Al-Mohsen, I. Z., Frayha, H. H., Rucker, R., RefAuthors Hawn, T. R., Aderem, A., Tufenkeji, H., Haraguchi, S., RefAuthors Day, N. K., Good, R. A., Gougerot-Pocidalo, M. A., RefAuthors Ozinsky, A., Casanova, J. L. RefTitle Pyogenic bacterial infections in humans with IRAK-4 RefTitle deficiency. RefLoc Science 299:2076-2079 (2003) DB CrossRef IRAK4base; I0001 DB CrossRef OMIM; 606883.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: AY186092: 20671 Feature /change: -t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 870 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: Q8TDF7: 274 Feature /change: L -> PLAWMVLHHF LGTX Feature /domain: PK Diagnosis IRAK4 deficiency Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID IRAK4_#N207X219(1); standard; MUTATION; PK Accession K00433 Systematic name g.15978delA, c.620delA, r.620dela, p.Asn207fsX5 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 08-Oct-2003 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 12925671 RefAuthors Medvedev, A. E., Lentschat, A., Kuhns, D. B., Blanco, J. RefAuthors C., Salkowski, C., Zhang, S., Arditi, M., Gallin, J. I., RefAuthors Vogel, S. N. RefTitle Distinct mutations in IRAK-4 ccnfer hyporesponsiveness to RefTitle lipopolysaccharide and interleukin-1 in a patient with RefTitle recurrent bacterial infections. RefLoc J Exp Med 198:521-531 (2003) RefNumber [2] RefCrossRef PUBMED; 9103466 RefAuthors Kuhns, D. B., Long Priel, D. A., Gallin, J. I. RefTitle Endotoxin and IL-1 hyporesponsiveness in a patient with RefTitle recurrent bacterial infections. RefLoc J Immunol 158:3959-3964 (1997) RefNumber [9] RefCrossRef PUBMED; 17893200 RefAuthors Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y., RefAuthors Chang, H. H., Yang, K., Chrabieh, M., Issekutz, A. C., RefAuthors Cunningham, C. K., Gallin, J., Holland, S. M., Roifman, RefAuthors C., Ehl, S., Smart, J., Tang, M., Barrat, F. J., Levy, O., RefAuthors McDonald, D., Day-Good, N. K., Miller, R., Takada, H., RefAuthors Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D., RefAuthors Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Marodi, RefAuthors L., Garty, B. Z., Chapel, H., Rodriguez-Gallego, C., RefAuthors Bossuyt, X., Abel, L., Puel, A., Casanova, J. L. RefTitle Selective predisposition to bacterial infections in IRAK-4- RefTitle deficient children: IRAK-4-dependent TLRs are otherwise RefTitle redundant in protective immunity. RefLoc J Exp Med 204:2407-22 DB CrossRef IRAK4base; I0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: AY186092: 15978 Feature /change: -a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 669 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: Q8TDF7: 207 Feature /change: N -> TQLWQX Feature /domain: PK Diagnosis IRAK4 deficiency Diagnosis Occurrence Families: 8; Patients: 14; Homozygotes: 0 // ID RET_S767R(1); standard; MUTATION; PK Accession K00434 Systematic name g.42326T>G, c.2301T>G, r.2301u>g, p.Ser767Arg Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42326 Feature /change: t -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2496 Feature /codon: agt -> agg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 767 Feature /change: S -> R Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_R873Q(1); standard; MUTATION; PK Accession K00435 Systematic name g.44028G>A, c.2618G>A, r.2618g>a, p.Arg873Gln Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) RefNumber [2] RefCrossRef PUBMED; 11302967 RefAuthors Gath, R., Goessling, A., Keller, K. M., Koletzko, S., RefAuthors Coerdt, W., Muntefering, H., Wirth, S., Hofstra, R. M., RefAuthors Mulligan, L., Eng, C., von Deimling, A. RefTitle Analysis of the RET, GDNF, EDN3, and EDNRB genes in RefTitle patients with intestinal neuronal dysplasia and RefTitle hirschsprung disease. RefLoc Gut 48:671-675 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44028 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2813 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 873 Feature /change: R -> Q Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Hirschsprung disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RET_F893L(1); standard; MUTATION; PK Accession K00436 Systematic name g.44087T>C, c.2677T>C, r.2677u>c, p.Phe893Leu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44087 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2872 Feature /codon: ttc -> ctc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 893 Feature /change: F -> L Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_K907E(1); standard; MUTATION; PK Accession K00437 Systematic name g.44129A>G, c.2719A>G, r.2719a>g, p.Lys907Glu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44129 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2914 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 907 Feature /change: K -> E Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_M980T(1); standard; MUTATION; PK Accession K00438 Systematic name g.47745T>C, c.2939T>C, r.2939u>c, p.Met980Thr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47745 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3134 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 980 Feature /change: M -> T Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_E921K(1); standard; MUTATION; PK Accession K00439 Systematic name g.45913G>A, c.2761G>A, r.2761g>a, p.Glu921Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7581377 RefAuthors Attie, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., RefAuthors Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fekete, C., RefAuthors Munnich, A. RefTitle Diversity of RET proto-oncogene mutations in familial and RefTitle sporadic hirschsprung disease. RefLoc Hum Mol Genet 4:1381-1386 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45913 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2956 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 921 Feature /change: E -> K Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_E734K(1); standard; MUTATION; PK Accession K00440 Systematic name g.40584G>A, c.2200G>A, r.2200g>a, p.Glu734Lys Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10946353 RefAuthors Inoue, K., Shimotake, T., Iwai, N. RefTitle Mutational analysis of RET/GDNF/NTN genes in children with RefTitle total colonic aganglionosis with small bowel involvement. RefLoc Am J Med Genet 93:278-284 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 40584 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2395 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 734 Feature /change: E -> K Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_W942C(1); standard; MUTATION; PK Accession K00441 Systematic name g.47632G>C, c.2826G>C, r.2826g>c, p.Trp942Cys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10946353 RefAuthors Inoue, K., Shimotake, T., Iwai, N. RefTitle Mutational analysis of RET/GDNF/NTN genes in children with RefTitle total colonic aganglionosis with small bowel involvement. RefLoc Am J Med Genet 93:278-284 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47632 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3021 Feature /codon: tgg -> tgc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 942 Feature /change: W -> C Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_R969W(1); standard; MUTATION; PK Accession K00442 Systematic name g.47711C>T, c.2905C>T, r.2905c>u, p.Arg969Trp Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10946353 RefAuthors Inoue, K., Shimotake, T., Iwai, N. RefTitle Mutational analysis of RET/GDNF/NTN genes in children with RefTitle total colonic aganglionosis with small bowel involvement. RefLoc Am J Med Genet 93:278-284 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 47711 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3100 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 969 Feature /change: R -> W Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 2; Patients: 2; Homozygotes: 1 // ID RET_E884D(1); standard; MUTATION; PK Accession K00443 Systematic name g.44062G>C, c.2652G>C, r.2652g>c, p.Glu884Asp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 09-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9094027 RefAuthors Shimotake, T., Iwai, N., Inoue, K., Kimura, T., Ichikawa, RefAuthors D., Abe, T., Inazawa, J. RefTitle Germline mutation of the RET proto-oncogene in children RefTitle with total intestinal aganglionosis. RefLoc J Pediatr Surg 32:498-500 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44062 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2847 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 884 Feature /change: E -> D Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_D771N(1); standard; MUTATION; PK Accession K00444 Systematic name g.42336G>A, c.2311G>A, r.2311g>a, p.Asp771Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 09-Oct-2003 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11436122 RefAuthors Julies, M. G., Moore, S. W., Kotze, M. J., du Plessis, L. RefTitle Novel RET mutations in hirschsprung's disease patients RefTitle from the diverse south african population. RefLoc Eur J Hum Genet 9:419-423 (2001) RefNumber [6] RefCrossRef PUBMED; 17270543 RefAuthors Moore, S. W., Appfelstaedt, J., Zaahl, M. G. RefTitle Familial medullary carcinoma prevention, risk evaluation, RefTitle and RET in children of families with MEN2. RefLoc J Pediatr Surg 42:326-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42336 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2506 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 771 Feature /change: D -> N Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID RET_R813Q(1); standard; MUTATION; PK Accession K00445 Systematic name g.43513G>A, c.2438G>A, r.2438g>a, p.Arg813Gln Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 10-Oct-2003 (Rel. 2, Created) Date 10-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10090908 RefAuthors Auricchio, A., Griseri, P., Carpentieri, M. L., Betsos, RefAuthors N., Staiano, A., Tozzi, A., Priolo, M., Thompson, H., RefAuthors Bocciardi, R., Romeo, G., Ballabio, A., Ceccherini, I. RefTitle Double heterozygosity for a RET substitution interfering RefTitle with splicing and an EDNRB missense mutation in RefTitle hirschsprung disease. RefLoc Am J Hum Genet 64:1216-1221 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43513 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2633 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 813 Feature /change: R -> Q Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_S922F(1); standard; MUTATION; PK Accession K00446 Systematic name g.45917C>T, c.2765C>T, r.2765c>u, p.Ser922Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 10-Oct-2003 (Rel. 2, Created) Date 10-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11692159 RefAuthors Kalinin, V. N., Amosenko, F. A., Shabanov, M. A., RefAuthors Lubchenko, L. N., Hosch, S. B., Garkavtseva, R. F., RefAuthors Izbicki, J. R. RefTitle Three novel mutations in the RET proto-oncogene. RefLoc J Mol Med 79:609-612 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45917 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2960 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 922 Feature /change: S -> F Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_W308C(1); standard; MUTATION; PK Accession K00447 Systematic name g.17075G>T, c.924G>T, r.924g>u, p.Trp308Cys Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [6] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 RefNumber [5] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17075 Feature /change: g -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1262 Feature /codon: tgg -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 308 Feature /change: W -> C Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 13; Patients: 20; Homozygotes: 0 // ID STK11_D176N(1); standard; MUTATION; PK Accession K00448 Systematic name g.14521G>A, c.526G>A, r.526g>a, p.Asp176Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 22-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14521 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 864 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 176 Feature /change: D -> N Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 5; Homozygotes: // ID STK11_@I192X265(1); standard; MUTATION; PK Accession K00449 Systematic name g.14569dupA, c.574dupA, r.574dupa, p.Ile192fsX73 Description A frame shift duplication mutation in the exon 4 leading to Description a premature stop codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) RefNumber [5] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 14570 Feature /change: +a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 913 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 192 Feature /change: I -> Feature /change: NLRPGRGRGT APVRGGRHLP DQPGLPGFPA ARDCQRPGHL Feature /change: LRLQGGHLVG WGHPLQHHHG SVPLRRGQHL QVVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_#R301X335(1); standard; MUTATION; PK Accession K00450 Systematic name g.16076delG, c.903delG, r.903delg, p.Gln302fsX33 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9837816 RefAuthors Mehenni, H., Gehrig, C., Nezu, J., Oku, A., Shimane, M., RefAuthors Rossier, C., Guex, N., Blouin, J. L., Scott, H. S., RefAuthors Antonarakis, S. E. RefTitle Loss of LKB1 kinase activity in peutz-jeghers syndrome, RefTitle and evidence for allelic and locus heterogeneity. RefLoc Am J Hum Genet 63:1641-1650 (1998) RefNumber [5] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16076 Feature /change: -g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1241 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 301 Feature /change: R -> RRSGSTAGSG RNILRLKHQC PSHRAQTPRT GGAAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 9; Homozygotes: 0 // ID STK11_#D53X63(1); standard; MUTATION; PK Accession K00451 Systematic name g.1158delA, c.158delA, r.158dela, p.Asp53fsX10 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 22-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1158 Feature /change: -a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 496 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 53 Feature /change: D -> ACWGKALTAR X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_F157S(1); standard; MUTATION; PK Accession K00452 Systematic name g.14465T>C, c.470T>C, r.470u>c, p.Phe157Ser Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14465 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 808 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 157 Feature /change: F -> S Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Q152X(1); standard; MUTATION; PK Accession K00453 Systematic name g.13490C>T, c.454C>T, r.454c>u, p.Gln152X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [6] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 RefNumber [4] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 13490 Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 792 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 152 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID STK11_N181Y(1); standard; MUTATION; PK Accession K00454 Systematic name g.14536A>T, c.541A>T, r.541a>u, p.Asn181Tyr Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 22-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14536 Feature /change: a -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 879 Feature /codon: aac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 181 Feature /change: N -> Y Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID STK11_W308X(1); standard; MUTATION; PK Accession K00455 Systematic name g.17074G>A, c.923G>A, r.923g>a, p.Trp308X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [8] RefCrossRef PUBMED; 20497868 RefAuthors Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C. RefTitle Clinical and genetic analysis of Peutz-Jeghers syndrome RefTitle patients in Taiwan. RefLoc J Formos Med Assoc 109:354-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17074 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1261 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 308 Feature /change: W -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Q220X(1); standard; MUTATION; PK Accession K00456 Systematic name g.14728C>T, c.658C>T, r.658c>u, p.Gln220X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 22-Oct-2003 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9887330 RefAuthors Ylikorkala, A., Avizienyte, E., Tomlinson, I. P., Tiainen, RefAuthors M., Roth, S., Loukola, A., Hemminki, A., Johansson, M., RefAuthors Sistonen, P., Markie, D., Neale, K., Phillips, R., Zauber, RefAuthors P., Twama, T., Sampson, J., Jarvinen, H., Makela, T. P., RefAuthors Aaltonen, L. A. RefTitle Mutations and impaired function of LKB1 in familial and RefTitle non-familial peutz-jeghers syndrome and a sporadic RefTitle testicular cancer. RefLoc Hum Mol Genet 8:45-51 (1999) RefNumber [2] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [4] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 RefNumber [11] RefCrossRef PUBMED; 20559149 RefAuthors Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., RefAuthors Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H. RefTitle Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung RefTitle adenocarcinomas. RefLoc J Thorac Oncol 5:1130-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14728 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 996 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 220 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID MET_Y1235D(1); standard; MUTATION; PK Accession K00457 Systematic name g.111970T>G, c.3703T>G, r.3703u>g, p.Tyr1235Asp Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10734314 RefAuthors Di Renzo, M. F., Olivero, M., Martone, T., Maffe, A., RefAuthors Maggiora, P., Stefani, A. D., Valente, G., Giordano, S., RefAuthors Cortesina, G., Comoglio, P. M. RefTitle Somatic mutations of the MET oncogene are selected during RefTitle metastatic spread of human HNSC carcinomas. RefLoc Oncogene 19:1547-1555 (2000) RefNumber [2] RefCrossRef PUBMED; 14627992 RefAuthors Aebersold, D. M., Landt, O., Berthou, S., Gruber, G., RefAuthors Beer, K. T., Greiner, R. H., Zimmer, Y. RefTitle Prevalence and clinical impact of met Y1253D-activating RefTitle point mutation in radiotherapy-treated squamous cell RefTitle cancer of the oropharynx. RefLoc Oncogene 22:8519-8523 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111970 Feature /change: t -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3897 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1235 Feature /change: Y -> D Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 18; Patients: 18; Homozygotes: 0 // ID MET_T1173I(1); standard; MUTATION; PK Accession K00458 Systematic name g.107549C>T, c.3518C>T, r.3518c>u, p.Thr1173Ile Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9927037 RefAuthors Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. RefAuthors S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, RefAuthors K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., RefAuthors Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y. RefTitle Somatic mutations in the kinase domain of the RefTitle met/hepatocyte growth factor receptor gene in childhood RefTitle hepatocellular carcinomas. RefLoc Cancer Res 59:307-310 (1999) DB CrossRef OMIM; 164860.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 107549 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3712 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1173 Feature /change: T -> I Feature /domain: PK Diagnosis Childhood hepatocellular carcinomas Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_M1250I(1); standard; MUTATION; PK Accession K00459 Systematic name g.112017G>A, c.3750G>A, r.3750g>a, p.Met1250Ile Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9927037 RefAuthors Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. RefAuthors S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, RefAuthors K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., RefAuthors Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y. RefTitle Somatic mutations in the kinase domain of the RefTitle met/hepatocyte growth factor receptor gene in childhood RefTitle hepatocellular carcinomas. RefLoc Cancer Res 59:307-310 (1999) DB CrossRef OMIM; 164860.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 112017 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3944 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1250 Feature /change: M -> I Feature /domain: PK Diagnosis Childhood hepatocellular carcinomas Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_K1244R(1); standard; MUTATION; PK Accession K00460 Systematic name g.111998A>G, c.3731A>G, r.3731a>g, p.Lys1244Arg Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9927037 RefAuthors Park, W. S., Dong, S. M., Kim, S. Y., Na, E. Y., Shin, M. RefAuthors S., Pi, J. H., Kim, B. J., Bae, J. H., Hong, Y. K., Lee, RefAuthors K. S., Lee, S. H., Yoo, N. J., Jang, J. J., Pack, S., RefAuthors Zhuang, Z., Schmidt, L., Zbar, B., Lee, J. Y. RefTitle Somatic mutations in the kinase domain of the RefTitle met/hepatocyte growth factor receptor gene in childhood RefTitle hepatocellular carcinomas. RefLoc Cancer Res 59:307-310 (1999) DB CrossRef OMIM; 164860.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 111998 Feature /change: a -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3925 Feature /codon: aag -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1244 Feature /change: K -> R Feature /domain: PK Diagnosis Childhood hepatocellular carcinomas Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_H1094R(1); standard; MUTATION; PK Accession K00461 Systematic name g.106006A>G, c.3281A>G, r.3281a>g, p.His1094Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9563489 RefAuthors Schmidt, L., Junker, K., Weirich, G., Glenn, G., Choyke, RefAuthors P., Lubensky, I., Zhuang, Z., Jeffers, M., Vande Woude, RefAuthors G., Neumann, H., Walther, M., Linehan, W. M., Zbar, B. RefTitle Two north american families with hereditary papillary RefTitle renal carcinoma and identical novel mutations in the MET RefTitle proto-oncogene. RefLoc Cancer Res 58:1719-1722 (1998) DB CrossRef OMIM; 164860.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 106006 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3475 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1094 Feature /change: H -> R Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 2; Patients: 20; Homozygotes: // ID MET_H1094Y(1); standard; MUTATION; PK Accession K00462 Systematic name g.106005C>T, c.3280C>T, r.3280c>u, p.His1094Tyr Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 23-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10327054 RefAuthors Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., RefAuthors Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., RefAuthors Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, RefAuthors R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., RefAuthors Linehan, W. M., Zbar, B. RefTitle Novel mutations of the MET proto-oncogene in papillary RefTitle renal carcinomas. RefLoc Oncogene 18:2343-2350 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 106005 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3474 Feature /codon: cat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1094 Feature /change: H -> Y Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 2; Patients: 2; Homozygotes: // ID MET_H1106D(1); standard; MUTATION; PK Accession K00463 Systematic name g.106041C>G, c.3316C>G, r.3316c>g, p.His1106Asp Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 23-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10327054 RefAuthors Schmidt, L., Junker, K., Nakaigawa, N., Kinjerski, T., RefAuthors Weirich, G., Miller, M., Lubensky, I., Neumann, H. P., RefAuthors Brauch, H., Decker, J., Vocke, C., Brown, J. A., Jenkins, RefAuthors R., Richard, S., Bergerheim, U., Gerrard, B., Dean, M., RefAuthors Linehan, W. M., Zbar, B. RefTitle Novel mutations of the MET proto-oncogene in papillary RefTitle renal carcinomas. RefLoc Oncogene 18:2343-2350 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 106041 Feature /change: c -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3510 Feature /codon: cac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1106 Feature /change: H -> D Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: // ID MET_V1092I(1); standard; MUTATION; PK Accession K00464 Systematic name g.105999G>A, c.3274G>A, r.3274g>a, p.Val1092Ile Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 23-Oct-2003 (Rel. 2, Created) Date 23-Oct-2003 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10417759 RefAuthors Olivero, M., Valente, G., Bardelli, A., Longati, P., RefAuthors Ferrero, N., Cracco, C., Terrone, C., Rocca-Rossetti, S., RefAuthors Comoglio, P. M., Di Renzo, M. F. RefTitle Novel mutation in the ATP-binding site of the MET oncogene RefTitle tyrosine kinase in a HPRCC family. RefLoc Int J Cancer 82:640-643 (1999) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 105999 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3468 Feature /codon: gta -> ata; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1092 Feature /change: V -> I Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 3; Homozygotes: // ID KIT_E839K(1); standard; MUTATION; PK Accession K00465 Systematic name g.79513G>A, c.2515G>A, r.2515g>a, p.Glu839Lys Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 28-Oct-2003 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9990072 RefAuthors Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., RefAuthors Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y. RefTitle Activating and dominant inactivating c-KIT catalytic RefTitle domain mutations in distinct clinical forms of human RefTitle mastocytosis. RefLoc Proc Natl Acad Sci U S A 96:1609-1614 (1999) DB CrossRef OMIM; 164920.0020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79513 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2536 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 839 Feature /change: E -> K Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_A883F(1); standard; MUTATION; PK Accession K00466 Systematic name g.44057G>T, c.2647G>T, r.2647g>u, p.Ala883Ser Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Oct-2003 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 8729519 RefAuthors Marsh, D. J., Learoyd, D. L., Andrew, S. D., Krishnan, L., RefAuthors Pojer, R., Richardson, A. L., Delbridge, L., Eng, C., RefAuthors Robinson, B. G. RefTitle Somatic mutations in the RET proto-oncogene in sporadic RefTitle medullary thyroid carcinoma. RefLoc Clin Endocrinol (Oxf) 44:249-257 (1996) RefNumber [2] RefCrossRef PUBMED; 9360560 RefAuthors Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., RefAuthors Dahia, P. L., Mulligan, L. M., Zajac, J. D., Robinson, B. RefAuthors G., Eng, C. RefTitle Germline dinucleotide mutation in codon 883 of the RET RefTitle proto-oncogene in multiple endocrine neoplasia type 2B RefTitle without codon 918 mutation. RefLoc J Clin Endocrinol Metab 82:3902-3904 (1997) RefNumber [3] RefCrossRef PUBMED; 9294615 RefAuthors Smith, D. P., Houghton, C., Ponder, B. A. RefTitle Germline mutation of RET codon 883 in two cases of de novo RefTitle MEN 2B. RefLoc Oncogene 15:1213-1217 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44057 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2842 Feature /codon: gct -> tct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 883 Feature /change: A -> S Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 5; Patients: 7; Homozygotes: 0 // ID KIT_D816F(1); standard; MUTATION; PK Accession K00467 Systematic name g.76139G>T, c.2446G>T, r.2446g>u, p.Asp816Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 29-Oct-2003 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9990072 RefAuthors Longley, B. J., Metcalfe, D. D., Tharp, M., Wang, X., RefAuthors Tyrrell, L., Lu, S. Z., Heitjan, D., Ma, Y. RefTitle Activating and dominant inactivating c-KIT catalytic RefTitle domain mutations in distinct clinical forms of human RefTitle mastocytosis. RefLoc Proc Natl Acad Sci U S A 96:1609-1614 (1999) RefNumber [2] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76139 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2467 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 816 Feature /change: D -> Y Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID RHOK_T298M(1); standard; MUTATION; PK Accession K00468 Systematic name g.1001C>T, c.893C>T, r.893c>u, p.Thr298Met Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-Oct-2003 (Rel. 2, Created) Date 30-Oct-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1001 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1001 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 298 Feature /change: T -> M Feature /domain: PK Diagnosis Autosomal recessive retinis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: // ID RHOK_N330S(1); standard; MUTATION; PK Accession K00469 Systematic name g.1097A>G, c.989A>G, r.989a>g, p.Asn330Ser Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-Oct-2003 (Rel. 2, Created) Date 30-Oct-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1097 Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1097 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 330 Feature /change: N -> S Feature /domain: PK Diagnosis Autosomal recessive retinis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: // ID RHOK_R438H(1); standard; MUTATION; PK Accession K00470 Systematic name g.1421G>A, c.1313G>A, r.1313g>a, p.Arg438His Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-Oct-2003 (Rel. 2, Created) Date 30-Oct-2003 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1421 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1421 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 438 Feature /change: R -> H Feature /domain: PK Diagnosis Autosomal recessive retinis pigmentosa Occurrence Families: 1; Patients: 1; Homozygotes: // ID CHEK2_E239X(1); standard; MUTATION; PK Accession K00471 Systematic name g.33724G>T, c.715G>T, r.715g>u, p.Glu239X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) DB CrossRef OMIM; 604373.0010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 33724 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 751 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CHK2_HUMAN: 239 Feature /change: E -> X Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_E239K(1); standard; MUTATION; PK Accession K00472 Systematic name g.33724G>A, c.715G>A, r.715g>a, p.Glu239Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) DB CrossRef OMIM; 604373.0011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 33724 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 751 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 239 Feature /change: E -> K Feature /domain: PK Diagnosis Prostate cancer Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID CHEK2_I251F(1); standard; MUTATION; PK Accession K00473 Systematic name g.33760A>T, c.751A>T, r.751a>u, p.Ile251Phe Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 33760 Feature /change: a -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 787 Feature /codon: atc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 251 Feature /change: I -> F Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_R318H(1); standard; MUTATION; PK Accession K00474 Systematic name g.45817G>A, c.953G>A, r.953g>a, p.Arg318His Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45817 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 989 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 318 Feature /change: R -> H Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_T323P(1); standard; MUTATION; PK Accession K00475 Systematic name g.45831A>C, c.967A>C, r.967a>c, p.Thr323Pro Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45831 Feature /change: a -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1003 Feature /codon: acc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 323 Feature /change: T -> P Feature /domain: PK Diagnosis Prostate cancer Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID CHEK2_Y327C(1); standard; MUTATION; PK Accession K00476 Systematic name g.45844A>G, c.980A>G, r.980a>g, p.Tyr327Cys Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45844 Feature /change: a -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1016 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 327 Feature /change: Y -> C Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_T476K(1); standard; MUTATION; PK Accession K00477 Systematic name g.51644C>A, c.1427C>A, r.1427c>a, p.Thr476Lys Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 09-Jan-2004 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12533788 RefAuthors Dong, X., Wang, L., Taniguchi, K., Wang, X., Cunningham, RefAuthors J. M., McDonnell, S. K., Qian, C., Marks, A. F., Slager, RefAuthors S. L., Peterson, B. J., Smith, D. I., Cheville, J. C., RefAuthors Blute, M. L., Jacobsen, S. J., Schaid, D. J., Tindall, D. RefAuthors J., Thibodeau, S. N., Liu, W. RefTitle Mutations in CHEK2 associated with prostate cancer risk. RefLoc Am J Hum Genet 72:270-280 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 51644 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1463 Feature /codon: acg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 476 Feature /change: T -> K Feature /domain: PK Diagnosis Prostate cancer Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR1_V607M(1); standard; MUTATION; PK Accession K00478 Systematic name g.53714G>A, c.1819G>A, r.1819g>a, p.Val607Met Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) DB CrossRef OMIM; 136350.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 53714 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2545 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 607 Feature /change: V -> M Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Diagnosis Occurrence Families: 2; Patients: 4; Homozygotes: 0 Comment -!-donor splice site mutation // ID FGFR1_R622X(1); standard; MUTATION; PK Accession K00479 Systematic name g.54727C>T, c.1864C>T, r.1864c>u, p.Arg622X Description A point mutation in the exon 14 leading to a premature stop Description codon in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) RefNumber [3] RefCrossRef PUBMED; 15613419 RefAuthors Pitteloud, N., Acierno, J. S., Meysing, A. U., Dwyer, A. RefAuthors A., Hayes, F. J., Crowley, W. F. RefTitle Reversible kallmann syndrome, delayed puberty, and RefTitle isolated anosmia occurring in a single family with a RefTitle mutation in the fibroblast growth factor receptor 1 gene. RefLoc J Clin Endocrinol Metab 90:1317-22 RefNumber [7] RefCrossRef PUBMED; 16764984 RefAuthors Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., RefAuthors Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, RefAuthors F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., RefAuthors Mohammadi, M., Crowley, W. F. RefTitle Mutations in fibroblast growth factor receptor 1 cause RefTitle Kallmann syndrome with a wide spectrum of reproductive RefTitle phenotypes. RefLoc Mol Cell Endocrinol 254-255:60-9 RefNumber [11] RefCrossRef PUBMED; 17200176 RefAuthors Xu, N., Qin, Y., Reindollar, R. H., Tho, S. P., McDonough, RefAuthors P. G., Layman, L. C. RefTitle A mutation in the fibroblast growth factor receptor 1 gene RefTitle causes fully penetrant normosmic isolated hypogonadotropic RefTitle hypogonadism. RefLoc J Clin Endocrinol Metab 92:1155-8 DB CrossRef OMIM; 136350.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 54727 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2590 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 622 Feature /change: R -> X Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 5; Patients: 17; Homozygotes: 0 Comment -!-Hypogonadotropic Hypogonadism // ID FGFR1_#T657X673(1); standard; MUTATION; PK Accession K00480 Systematic name g.54833delC, c.1970delC, r.1970delc, p.Thr657fsX7 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) DB CrossRef OMIM; 136350.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: FGFR1_DNA: 54833 Feature /change: -c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X66945; GI:120046; X66945: 2696 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 657 Feature /change: T -> KPTADCLX Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID FGFR1_W666R(1); standard; MUTATION; PK Accession K00481 Systematic name g.55008T>A, c.1996T>A, r.1996u>a, p.Trp666Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) DB CrossRef OMIM; 136350.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55008 Feature /change: t -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2722 Feature /codon: tgg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 666 Feature /change: W -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_M719R(2); standard; MUTATION; PK Accession K00484 Systematic name g.55437T>G, c.2156T>G, r.2156u>g, p.Met719Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 15-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12627230 RefAuthors Dode, C., Levilliers, J., Dupont, J. M., De Paepe, A., Le RefAuthors Du, N., Soussi-Yanicostas, N., Coimbra, R. S., RefAuthors Delmaghani, S., Compain-Nouaille, S., Baverel, F., RefAuthors Pecheux, C., Le Tessier, D., Cruaud, C., Delpech, M., RefAuthors Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., RefAuthors Bouchard, P., Cabrol, S., Carel, J. C., Delemarre-van de RefAuthors Waal, H., Goulet-Salmon, B., Kottler, M. L., Richard, O., RefAuthors Sanchez-Franco, F., Saura, R., Young, J., Petit, C., RefAuthors Hardelin, J. P. RefTitle Loss-of-function mutations in FGFR1 cause autosomal RefTitle dominant kallmann syndrome. RefLoc Nat Genet 33:463-465 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55437 Feature /change: t -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2882 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 719 Feature /change: M -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_N822K(1); standard; MUTATION; PK Accession K00486 Systematic name g.76159T>A, c.2466T>A, r.2466u>a, p.Asn822Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) RefNumber [2] RefCrossRef PUBMED; 12824897 RefAuthors Kitamura, Y., Hirota, S., Nishida, T. RefTitle Gastrointestinal stromal tumors (GIST): a model for RefTitle molecule-based diagnosis and treatment of solid tumors. RefLoc Cancer Sci 94:315-320 (2003) RefNumber [3] RefCrossRef PUBMED; 11719439 RefAuthors Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. RefAuthors L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., RefAuthors Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, RefAuthors J. A. RefTitle KIT activation is a ubiquitous feature of gastrointestinal RefTitle stromal tumors. RefLoc Cancer Res 61:8118-8121 (2001) RefNumber [4] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) RefNumber [14] RefCrossRef PUBMED; 17504295 RefAuthors Steigen, S. E., Eide, T. J., Wasag, B., Lasota, J., RefAuthors Miettinen, M. RefTitle Mutations in gastrointestinal stromal tumors--a population- RefTitle based study from Northern Norway. RefLoc APMIS 115:289-98 RefNumber [16] RefCrossRef PUBMED; 17566038 RefAuthors Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, RefAuthors G., Frilling, A., Schmid, K. W. RefTitle Double resistance to imatinib and AMG 706 caused by RefTitle multiple acquired KIT exon 17 mutations in a RefTitle gastrointestinal stromal tumour. RefLoc Gut 56:1025-6 RefNumber [20] RefCrossRef PUBMED; 18246046 RefAuthors Lasota, J., Corless, C. L., Heinrich, M. C., Debiec- RefAuthors Rychter, M., Sciot, R., Wardelmann, E., Merkelbach-Bruse, RefAuthors S., Schildhaus, H. U., Steigen, S. E., Stachura, J., RefAuthors Wozniak, A., Antonescu, C., Daum, O., Martin, J., Del RefAuthors Muro, J. G., Miettinen, M. RefTitle Clinicopathologic profile of gastrointestinal stromal RefTitle tumors (GISTs) with primary KIT exon 13 or exon 17 RefTitle mutations: a multicenter study on 54 cases. RefLoc Mod Pathol 21:476-84 RefNumber [8] RefCrossRef PUBMED; 18724244 RefAuthors Thalheimer, A., Schlemmer, M., Bueter, M., Merkelbach- RefAuthors Bruse, S., Schildhaus, H. U., Buettner, R., Hartung, E., RefAuthors Thiede, A., Meyer, D., Fein, M., Maroske, J., Wardelmann, RefAuthors E. RefTitle Familial gastrointestinal stromal tumors caused by the RefTitle novel KIT exon 17 germline mutation N822Y. RefLoc Am J Surg Pathol 32:1560-1565 (2008) RefNumber [30] RefCrossRef PUBMED; 20471335 RefAuthors Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., RefAuthors Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P. RefTitle High frequency of concomitant mastocytosis in patients RefTitle with acute myeloid leukemia exhibiting the transforming RefTitle KIT mutation D816V. RefLoc Mol Oncol 4:335-46 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76159 Feature /change: t -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2487 Feature /codon: aat -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> K Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Piepaldism Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 7; Patients: 10; Homozygotes: 0 // ID KIT_Y823D(1); standard; MUTATION; PK Accession K00487 Systematic name g.76160T>G, c.2467T>G, r.2467u>g, p.Tyr823Asp Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76160 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2488 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 823 Feature /change: Y -> D Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_Y823C(1); standard; MUTATION; PK Accession K00488 Systematic name g.76161A>G, c.2468A>G, r.2468a>g, p.Tyr823Cys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76161 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2489 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 823 Feature /change: Y -> C Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_T801I(1); standard; MUTATION; PK Accession K00489 Systematic name g.76095C>T, c.2402C>T, r.2402c>u, p.Thr801Ile Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 16-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14695343 RefAuthors Kemmer, K., Corless, C. L., Fletcher, J. A., McGreevey, RefAuthors L., Haley, A., Griffith, D., Cummings, O. W., Wait, C., RefAuthors Town, A., Heinrich, M. C. RefTitle KIT mutations are common in testicular seminomas. RefLoc Am J Pathol 164:305-313 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76095 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2423 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 801 Feature /change: T -> I Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_K642Q(1); standard; MUTATION; PK Accession K00490 Systematic name g.71040A>C, c.1924A>C, r.1924a>c, p.Lys642Gln Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12918066 RefAuthors Wardelmann, E., Losen, I., Hans, V., Neidt, I., Speidel, RefAuthors N., Bierhoff, E., Heinicke, T., Pietsch, T., Buttner, R., RefAuthors Merkelbach-Bruse, S. RefTitle Deletion of trp-557 and lys-558 in the juxtamembrane RefTitle domain of the c-kit protooncogene is associated with RefTitle metastatic behavior of gastrointestinal stromal tumors. RefLoc Int J Cancer 106:887-895 (2003) RefNumber [2] RefCrossRef PUBMED; 15010069 RefAuthors Debiec-Rychter, M., Dumez, H., Judson, I., Wasag, B., RefAuthors Verweij, J., Brown, M., Dimitrijevic, S., Sciot, R., Stul, RefAuthors M., Vranck, H., Scurr, M., Hagemeijer, A., Van Glabbeke, RefAuthors M., Van Oosterom, A. T. RefTitle Use of c-KIT/PDGFRA mutational analysis to predict the RefTitle clinical response to imatinib in patients with advanced RefTitle gastrointestinal stromal tumours entered on phase I and II RefTitle studies of the EORTC soft tissue and bone sarcoma group. RefLoc Eur J Cancer 40:689-695 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71040 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1945 Feature /codon: aaa -> caa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> Q Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID KIT_D820Y(1); standard; MUTATION; PK Accession K00491 Systematic name g.76151G>T, c.2458G>T, r.2458g>u, p.Asp820Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11984533 RefAuthors Hirota, S., Nishida, T., Isozaki, K., Taniguchi, M., RefAuthors Nishikawa, K., Ohashi, A., Takabayashi, A., Obayashi, T., RefAuthors Okuno, T., Kinoshita, K., Chen, H., Shinomura, Y., RefAuthors Kitamura, Y. RefTitle Familial gastrointestinal stromal tumors associated with RefTitle dysphagia and novel type germline mutation of KIT gene. RefLoc Gastroenterology 122:1493-1499 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76151 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2479 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 820 Feature /change: D -> Y Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: ?; Homozygotes: 0 // ID KIT_K642E(1); standard; MUTATION; PK Accession K00492 Systematic name g.71040A>G, c.1924A>G, r.1924a>g, p.Lys642Glu Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 10) RefNumber [1] RefCrossRef PUBMED; 12824897 RefAuthors Kitamura, Y., Hirota, S., Nishida, T. RefTitle Gastrointestinal stromal tumors (GIST): a model for RefTitle molecule-based diagnosis and treatment of solid tumors. RefLoc Cancer Sci 94:315-320 (2003) RefNumber [2] RefCrossRef PUBMED; 10702394 RefAuthors Lux, M. L., Rubin, B. P., Biase, T. L., Chen, C. J., RefAuthors Maclure, T., Demetri, G., Xiao, S., Singer, S., Fletcher, RefAuthors C. D., Fletcher, J. A. RefTitle KIT extracellular and kinase domain mutations in RefTitle gastrointestinal stromal tumors. RefLoc Am J Pathol 156:791-795 (2000) RefNumber [3] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) RefNumber [4] RefCrossRef PUBMED; 11021812 RefAuthors Lasota, J., Wozniak, A., Sarlomo-Rikala, M., Rys, J., RefAuthors Kordek, R., Nassar, A., Sobin, L. H., Miettinen, M. RefTitle Mutations in exons 9 and 13 of KIT gene are rare events in RefTitle gastrointestinal stromal tumors. A study of 200 cases. RefLoc Am J Pathol 157:1091-1095 (2000) RefNumber [10] RefCrossRef PUBMED; 15897563 RefAuthors Tarn, C., Merkel, E., Canutescu, A. A., Shen, W., RefAuthors Skorobogatko, Y., Heslin, M. J., Eisenberg, B., Birbe, R., RefAuthors Patchefsky, A., Dunbrack, R., Arnoletti, J. P., von RefAuthors Mehren, M., Godwin, A. K. RefTitle Analysis of KIT mutations in sporadic and familial RefTitle gastrointestinal stromal tumors: therapeutic implications RefTitle through protein modeling. RefLoc Clin Cancer Res 11:3668-77 RefNumber [15] RefCrossRef PUBMED; 17504295 RefAuthors Steigen, S. E., Eide, T. J., Wasag, B., Lasota, J., RefAuthors Miettinen, M. RefTitle Mutations in gastrointestinal stromal tumors--a population- RefTitle based study from Northern Norway. RefLoc APMIS 115:289-98 RefNumber [20] RefCrossRef PUBMED; 18246046 RefAuthors Lasota, J., Corless, C. L., Heinrich, M. C., Debiec- RefAuthors Rychter, M., Sciot, R., Wardelmann, E., Merkelbach-Bruse, RefAuthors S., Schildhaus, H. U., Steigen, S. E., Stachura, J., RefAuthors Wozniak, A., Antonescu, C., Daum, O., Martin, J., Del RefAuthors Muro, J. G., Miettinen, M. RefTitle Clinicopathologic profile of gastrointestinal stromal RefTitle tumors (GISTs) with primary KIT exon 13 or exon 17 RefTitle mutations: a multicenter study on 54 cases. RefLoc Mod Pathol 21:476-84 RefNumber [32] RefCrossRef PUBMED; 15543597 RefAuthors Vu, H. A., Xinh, P. T., Kikushima, M., Zhu, Y., Tokuhara, RefAuthors M., Tani, M., Shimizu, T., Saito, K., Tokunaga, K., Sato, RefAuthors Y. RefTitle A recurrent duodenal gastrointestinal stromal tumor with a RefTitle frameshift mutation resulting in a stop codon in KIT exon RefTitle 13. RefLoc Genes Chromosomes Cancer 42:179-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71040 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1945 Feature /codon: aaa -> gaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> E Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Piepaldism Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 9; Patients: 9; Homozygotes: 2 // ID KIT_N822H(1); standard; MUTATION; PK Accession K00493 Systematic name g.76157A>C, c.2464A>C, r.2464a>c, p.Asn822His Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 16-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 12824897 RefAuthors Kitamura, Y., Hirota, S., Nishida, T. RefTitle Gastrointestinal stromal tumors (GIST): a model for RefTitle molecule-based diagnosis and treatment of solid tumors. RefLoc Cancer Sci 94:315-320 (2003) RefNumber [2] RefCrossRef PUBMED; 11719439 RefAuthors Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. RefAuthors L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., RefAuthors Tuveson, D. A., Demetri, G. D., Fletcher, C. D., Fletcher, RefAuthors J. A. RefTitle KIT activation is a ubiquitous feature of gastrointestinal RefTitle stromal tumors. RefLoc Cancer Res 61:8118-8121 (2001) RefNumber [3] RefCrossRef PUBMED; 14645423 RefAuthors Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, RefAuthors C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., RefAuthors Chen, C. J., Van den Abbeele, A. D., Druker, B. J., Kiese, RefAuthors B., Eisenberg, B., Roberts, P. J., Singer, S., Fletcher, RefAuthors C. D., Silberman, S., Dimitrijevic, S., Fletcher, J. A. RefTitle Kinase mutations and imatinib response in patients with RefTitle metastatic gastrointestinal stromal tumor. RefLoc J Clin Oncol 21:4342-4349 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76157 Feature /change: a -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2485 Feature /codon: aat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> H Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_#S715-1(1); standard; MUTATION; PK Accession K00494 Systematic name g.74314delA, c.2143delA, r.2143dela, p.Ser715fsX9 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11786393 RefAuthors Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, RefAuthors G., Aman, P., Kindblom, L. G. RefTitle The complexity of KIT gene mutations and chromosome RefTitle rearrangements and their clinical correlation in RefTitle gastrointestinal stromal (pacemaker cell) tumors. RefLoc Am J Pathol 160:15-22 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 74314 Feature /change: -a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 2164 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 715 Feature /change: S -> AIVLMSTWTX Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID KIT_#Y703-2(1); standard; MUTATION; PK Accession K00495 Systematic name g.72437delA, c.2108delA, r.2108dela, p.Tyr703fsX21 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11786393 RefAuthors Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, RefAuthors G., Aman, P., Kindblom, L. G. RefTitle The complexity of KIT gene mutations and chromosome RefTitle rearrangements and their clinical correlation in RefTitle gastrointestinal stromal (pacemaker cell) tumors. RefLoc Am J Pathol 160:15-22 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 72437 Feature /change: -a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 2129 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 703 Feature /change: Y -> LRIFCIQRSL PAAIVLMSTW TX Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_R815K(1); standard; MUTATION; PK Accession K00496 Systematic name g.76137G>A, c.2444G>A, r.2444g>a, p.Arg815Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jan-2004 (Rel. 2, Created) Date 29-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12598308 RefAuthors Sotlar, K., Escribano, L., Landt, O., Mohrle, S., Herrero, RefAuthors S., Torrelo, A., Lass, U., Horny, H. P., Bultmann, B. RefTitle One-step detection of c-kit point mutations using peptide RefTitle nucleic acid-mediated polymerase chain reaction clamping RefTitle and hybridization probes. RefLoc Am J Pathol 162:737-746 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76137 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2465 Feature /codon: aga -> aaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 815 Feature /change: R -> K Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_K650T(1); standard; MUTATION; PK Accession K00497 Systematic name g.13268A>C, c.1949A>C, r.1949a>c, p.Lys650Thr Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 21-Jan-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 12743143 RefAuthors van Rhijn, B. W., Vis, A. N., van der Kwast, T. H., RefAuthors Kirkels, W. J., Radvanyi, F., Ooms, E. C., Chopin, D. K., RefAuthors Boeve, E. R., Jobsis, A. C., Zwarthoff, E. C. RefTitle Molecular grading of urothelial cell carcinoma with RefTitle fibroblast growth factor receptor 3 and MIB-1 is superior RefTitle to pathologic grade for the prediction of clinical RefTitle outcome. RefLoc J Clin Oncol 21:1912-1921 (2003) RefNumber [38] RefCrossRef PUBMED; 17585316 RefAuthors Hafner, C., Hartmann, A., van Oers, J. M., Stoehr, R., RefAuthors Zwarthoff, E. C., Hofstaedter, F., Landthaler, M., Vogt, RefAuthors T. RefTitle FGFR3 mutations in seborrheic keratoses are already RefTitle present in flat lesions and associated with age and RefTitle localization. RefLoc Mod Pathol 20:895-903 RefNumber [41] RefCrossRef PUBMED; 18583390 RefAuthors Castro-Feijoo, L., Loidi, L., Vidal, A., Parajes, S., RefAuthors Roson, E., Alvarez, A., Cabanas, P., Barreiro, J., Alonso, RefAuthors A., Dominguez, F., Pombo, M. RefTitle Hypochondroplasia and Acanthosis nigricans: a new syndrome RefTitle due to the p.Lys650Thr mutation in the fibroblast growth RefTitle factor receptor 3 gene? RefLoc Eur J Endocrinol 159:243-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13268 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1988 Feature /codon: aag -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 650 Feature /change: K -> T Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Hypochondroplasia Occurrence Families: 4; Patients: 7; Homozygotes: 0 // ID FGFR2_N549H(1); standard; MUTATION; PK Accession K00498 Systematic name g.100882A>C, c.1645A>C, r.1645a>c, p.Asn549His Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 100882 Feature /change: a -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1824 Feature /codon: aat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 549 Feature /change: N -> H Feature /domain: PK Diagnosis Crouzon syndrome (CS) Diagnosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FGFR2_E565G(1); standard; MUTATION; PK Accession K00499 Systematic name g.102703A>G, c.1694A>G, r.1694a>g, p.Glu565Gly Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 102703 Feature /change: a -> g Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1873 Feature /codon: gag -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 565 Feature /change: E -> G Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID FGFR2_K641R(1); standard; MUTATION; PK Accession K00500 Systematic name g.111349A>G, c.1922A>G, r.1922a>g, p.Lys641Arg Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111349 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2101 Feature /codon: aaa -> aga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 641 Feature /change: K -> R Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FGFR2_K659N(1); standard; MUTATION; PK Accession K00501 Systematic name g.111404G>T, c.1977G>T, r.1977g>u, p.Lys659Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111404 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2156 Feature /codon: aag -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 659 Feature /change: K -> N Feature /domain: PK Diagnosis Syndromic craniosynostosis Diagnosis Crouzon syndrome (CS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR2_G663E(1); standard; MUTATION; PK Accession K00502 Systematic name g.111981G>A, c.1988G>A, r.1988g>a, p.Gly663Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111981 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2167 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 663 Feature /change: G -> E Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID FGFR2_R678G(1); standard; MUTATION; PK Accession K00503 Systematic name g.112025A>G, c.2032A>G, r.2032a>g, p.Arg678Gly Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11781872 RefAuthors Kan, S. H., Elanko, N., Johnson, D., Cornejo-Roldan, L., RefAuthors Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, RefAuthors S. R., Rannan-Eliya, S., McDonald-McGinn, D. M., Zackai, RefAuthors E. H., Wall, S. A., Muenke, M., Wilkie, A. O. RefTitle Genomic screening of fibroblast growth-factor receptor 2 RefTitle reveals a wide spectrum of mutations in patients with RefTitle syndromic craniosynostosis. RefLoc Am J Hum Genet 70:472-486 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 112025 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2211 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 678 Feature /change: R -> G Feature /domain: PK Diagnosis Crouzon syndrome (CS) Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_G1035V(1); standard; MUTATION; PK Accession K00504 Systematic name g.169455G>T, c.3104G>T, r.3104g>u, p.Gly1035Val Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 2544998 RefAuthors Odawara, M., Kadowaki, T., Yamamoto, R., Shibasaki, Y., RefAuthors Tobe, K., Accili, D., Bevins, C., Mikami, Y., Matsuura, RefAuthors N., Akanuma, Y. RefTitle Human diabetes associated with a mutation in the tyrosine RefTitle kinase domain of the insulin receptor. RefLoc Science 245:66-68 (1989) DB CrossRef OMIM; 147670.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169455 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3242 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1035 Feature /change: G -> V Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_A1055V(1); standard; MUTATION; PK Accession K00505 Systematic name g.169515C>T, c.3164C>T, r.3164c>u, p.Ala1055Val Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10733238 RefAuthors Rique, S., Nogues, C., Ibanez, L., Marcos, M. V., RefAuthors Ferragut, J., Carrascosa, A., Potau, N. RefTitle Identification of three novel mutations in the insulin RefTitle receptor gene in type A insulin resistant patients. RefLoc Clin Genet 57:67-69 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169515 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3302 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1055 Feature /change: A -> V Feature /domain: PK Diagnosis Insulin resistance, type A Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_R1119W(1); standard; MUTATION; PK Accession K00506 Systematic name g.171999C>T, c.3355C>T, r.3355c>u, p.Arg1119Trp Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9249867 RefAuthors Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., RefAuthors Pennerath, A., Conteville, P., Magre, J., Besmond, C., RefAuthors Goossens, M., Capeau, J., Amselem, S. RefTitle Molecular analysis of the insulin receptor gene for RefTitle prenatal diagnosis of leprechaunism in two families. RefLoc Prenat Diagn 17:657-663 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 171999 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3493 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1119 Feature /change: R -> W Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_I1143T(1); standard; MUTATION; PK Accession K00507 Systematic name g.172177T>C, c.3428T>C, r.3428u>c, p.Ile1143Thr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10443650 RefAuthors Longo, N., Wang, Y., Pasquali, M. RefTitle Progressive decline in insulin levels in rabson-mendenhall RefTitle syndrome. RefLoc J Clin Endocrinol Metab 84:2623-2629 (1999) RefNumber [2] RefCrossRef PUBMED; 12023989 RefAuthors Longo, N., Wang, Y., Smith, S. A., Langley, S. D., RefAuthors DiMeglio, L. A., Giannella-Neto, D. RefTitle Genotype-phenotype correlation in inherited severe insulin RefTitle resistance. RefLoc Hum Mol Genet 11:1465-1475 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172177 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3566 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1143 Feature /change: I -> T Feature /domain: PK Diagnosis Insulin resistance Diagnosis Leprechaunism Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_R1158W(1); standard; MUTATION; PK Accession K00508 Systematic name g.172221C>T, c.3472C>T, r.3472c>u, p.Arg1158Trp Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12023989 RefAuthors Longo, N., Wang, Y., Smith, S. A., Langley, S. D., RefAuthors DiMeglio, L. A., Giannella-Neto, D. RefTitle Genotype-phenotype correlation in inherited severe insulin RefTitle resistance. RefLoc Hum Mol Genet 11:1465-1475 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 172221 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3610 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1158 Feature /change: R -> W Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_R1201W(1); standard; MUTATION; PK Accession K00509 Systematic name g.174214C>T, c.3601C>T, r.3601c>u, p.Arg1201Trp Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9703342 RefAuthors Whitehead, J. P., Soos, M. A., Jackson, R., Tasic, V., RefAuthors Kocova, M., O'Rahilly, S. RefTitle Multiple molecular mechanisms of insulin receptor RefTitle dysfunction in a patient with donohue syndrome. RefLoc Diabetes 47:1362-1364 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174214 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3739 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1201 Feature /change: R -> W Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 1; Homozygotes: // ID INSR_E1206K(1); standard; MUTATION; PK Accession K00510 Systematic name g.174229G>A, c.3616G>A, r.3616g>a, p.Glu1206Lys Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 22-Jan-2004 (Rel. 2, Created) Date 22-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9249867 RefAuthors Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., RefAuthors Pennerath, A., Conteville, P., Magre, J., Besmond, C., RefAuthors Goossens, M., Capeau, J., Amselem, S. RefTitle Molecular analysis of the insulin receptor gene for RefTitle prenatal diagnosis of leprechaunism in two families. RefLoc Prenat Diagn 17:657-663 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 174229 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3754 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: INSR_HUMAN: 1206 Feature /change: E -> K Feature /domain: PK Diagnosis Leprechaunism Occurrence Families: 1; Patients: 1; Homozygotes: // ID RET_R844L(1); standard; MUTATION; PK Accession K00511 Systematic name g.43606G>T, c.2531G>T, r.2531g>u, p.Arg844Leu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10826520 RefAuthors Bartsch, D. K., Hasse, C., Schug, C., Barth, P., Rothmund, RefAuthors M., Hoppner, W. RefTitle A RET double mutation in the germline of a kindred with RefTitle FMTC. RefLoc Exp Clin Endocrinol Diabetes 108:128-132 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43606 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2726 Feature /codon: cgg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 844 Feature /change: R -> L Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected together with V804M (K00030 mutation in Comment -!-KinMutBase) // ID RET_R982C(1); standard; MUTATION; PK Accession K00512 Systematic name g.48824C>T, c.2944C>T, r.2944c>u, p.Arg982Cys Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 9760196 RefAuthors Svensson, P. J., Anvret, M., Molander, M. L., RefAuthors Nordenskjold, A. RefTitle Phenotypic variation in a family with mutations in two RefTitle hirschsprung-related genes (RET and endothelin receptor RefTitle B). RefLoc Hum Genet 103:145-148 (1998) RefNumber [2] RefCrossRef PUBMED; 10646792 RefAuthors Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, RefAuthors B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, RefAuthors D., Tam, P. K. RefTitle Incidence of RET mutations in patients with hirschsprung's RefTitle disease. RefLoc J Pediatr Surg 35:139-42; discussion 1421-3 (2000) RefNumber [5] RefCrossRef PUBMED; 16171945 RefAuthors Tengs, T., Lee, J. C., Paez, J. G., Zhao, X., LaFramboise, RefAuthors T., Giannoukos, G., Thomas, R. K. RefTitle A transforming MET mutation discovered in non-small cell RefTitle lung cancer using microarray-based resequencing. RefLoc Cancer Lett 239:227-33 DB CrossRef OMIM; 164761.0036 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 48824 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3139 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 982 Feature /change: R -> C Feature /domain: PK Diagnosis Hirschsprung disease Diagnosis Occurrence Families: 6; Patients: 8; Homozygotes: 0 Comment -!-Lung Cancer // ID RHOK_V380D(1); standard; MUTATION; PK Accession K00513 Systematic name g.1247T>A, c.1139T>A, r.1139u>a, p.Val380Asp Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 08-Jun-2011 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 9020843 RefAuthors Yamamoto, S., Sippel, K. C., Berson, E. L., Dryja, T. P. RefTitle Defects in the rhodopsin kinase gene in the oguchi form of RefTitle stationary night blindness. RefLoc Nat Genet 15:175-178 (1997) RefNumber [6] RefCrossRef PUBMED; 17070587 RefAuthors Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., RefAuthors Kitahara, K. RefTitle A novel homozygous GRK1 mutation (P391H) in 2 siblings RefTitle with Oguchi disease with markedly reduced cone responses. RefLoc Ophthalmology 114:134-41 DB CrossRef OMIM; 180381.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1247 Feature /change: t -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1247 Feature /codon: gtc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 380 Feature /change: V -> D Feature /domain: PK Diagnosis Oguchi disease Occurrence Families: 5; Patients: 6; Homozygotes: 0 // ID AMHR2_#L444-8(1); standard; MUTATION; PK Accession K00514 Systematic name g.7064delC, c.1330delC, r.1330delc, p.Leu444fsX36 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mullerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mullerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) DB CrossRef OMIM; 600956.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U29700: 7064 Feature /change: -c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1408 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: AMH2_HUMAN: 444 Feature /change: L -> WAIPLPLMSY GPWQCRRGGV PTSHPPGAAL PQTLMGX Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 11; Patients: 11; Homozygotes: 4 // ID AMHR2_H282Q(1); standard; MUTATION; PK Accession K00515 Systematic name g.2790T>G, c.846T>G, r.846u>g, p.His282Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 2790 Feature /change: t -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 924 Feature /codon: cat -> cag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 282 Feature /change: H -> Q Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K0514 24 bp inframe deletion in exon10 // ID AMHR2_D426G(1); standard; MUTATION; PK Accession K00516 Systematic name g.6844A>G, c.1277A>G, r.1277a>g, p.Asp426Gly Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 6844 Feature /change: a -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1355 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 426 Feature /change: D -> G Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 2; Patients: 2; Homozygotes: 2 // ID AMHR2_V458A(1); standard; MUTATION; PK Accession K00517 Systematic name g.7107T>C, c.1373T>C, r.1373u>c, p.Val458Ala Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 7107 Feature /change: t -> c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1451 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 458 Feature /change: V -> A Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K00514 mut. a 24 bp del in exon 10 // ID AMHR2_D491H(1); standard; MUTATION; PK Accession K00518 Systematic name g.8101G>C, c.1471G>C, r.1471g>c, p.Asp491His Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 8101 Feature /change: g -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1549 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 491 Feature /change: D -> H Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K00514 mut. a 24 bp del in exon 10 // ID AMHR2_R504C(1); standard; MUTATION; PK Accession K00519 Systematic name g.8140C>T, c.1510C>T, r.1510c>u, p.Arg504Cys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 26-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 8140 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1588 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 504 Feature /change: R -> C Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The other allele was K00514 mut. a 24 bp del in exon 10 // ID AMHR2_R406Q(1); standard; MUTATION; PK Accession K00521 Systematic name g.6784G>A, c.1217G>A, r.1217g>a, p.Arg406Gln Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 26-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 8872466 RefAuthors Imbeaud, S., Belville, C., Messika-Zeitoun, L., Rey, R., RefAuthors di Clemente, N., Josso, N., Picard, J. Y. RefTitle A 27 base-pair deletion of the anti-mllerian type II RefTitle receptor gene is the most common cause of the persistent RefTitle mllerian duct syndrome. RefLoc Hum Mol Genet 5:1269-1277 (1996) DB CrossRef OMIM; 600956.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U29700: 6784 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_020547; GI:9087133; NM_020547: 1295 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AMH2_HUMAN: 406 Feature /change: R -> Q Feature /domain: PK Diagnosis Persistent Mllerian duct syndrome, Type II Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BMPR2_R211X(1); standard; MUTATION; PK Accession K00522 Systematic name g.142357C>T, c.631C>T, r.631c>u, p.Arg211X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [2] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [7] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142357 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1012 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 211 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 5; Patients: 6; Homozygotes: 0 // ID BMPR2_#K230X254(1); standard; MUTATION; PK Accession K00523 Systematic name g.142415delA, c.689delA, r.689dela, p.Val231fsX20 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 142415 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1070 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 230 Feature /change: K -> KCFPLQTVRI LSTKRTFTEC LX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID BMPR2_E243X(1); standard; MUTATION; PK Accession K00524 Systematic name g.142453G>T, c.727G>T, r.727g>u, p.Glu243X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [9] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142453 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1108 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 243 Feature /change: E -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 4; Homozygotes: 0 // ID BMPR2_R332X(1); standard; MUTATION; PK Accession K00525 Systematic name g.154346C>T, c.994C>T, r.994c>u, p.Arg332X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [2] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [8] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [15] RefCrossRef PUBMED; 15965979 RefAuthors Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., RefAuthors Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., RefAuthors Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen- RefAuthors Sokolowski, A., Trembath, R. C., Laitinen, T. RefTitle BMPR2 mutations have short lifetime expectancy in primary RefTitle pulmonary hypertension. RefLoc Hum Mutat 26:119-24 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0017 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154346 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1375 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 332 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 6; Patients: 15; Homozygotes: 0 // ID BMPR2_#T359X374(1); standard; MUTATION; PK Accession K00526 Systematic name g.154428delC, c.1076delC, r.1076delc, p.Thr359fsX15 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154428 Feature /change: -c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1457 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 359 Feature /change: T -> MEIDWCAQGR KIMQPX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BMPR2_C397X(1); standard; MUTATION; PK Accession K00527 Systematic name g.156173delT, c.1191delT, r.1191delu, p.Cys397fsX4 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 27-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156173 Feature /change: -t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1572 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 397 Feature /change: C -> WNQLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BMPR2_C420R(1); standard; MUTATION; PK Accession K00528 Systematic name g.156240T>C, c.1258T>C, r.1258u>c, p.Cys420Arg Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 27-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11115378 RefAuthors Machado, R. D., Pauciulo, M. W., Thomson, J. R., Lane, K. RefAuthors B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, RefAuthors J., Williams, D., Galie, N., Manes, A., McNeil, K., RefAuthors Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, RefAuthors M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. RefAuthors E., Trembath, R. C., Nichols, W. C. RefTitle BMPR2 haploinsufficiency as the inherited molecular RefTitle mechanism for primary pulmonary hypertension. RefLoc Am J Hum Genet 68:92-102 (2001) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156240 Feature /change: t -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1639 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 420 Feature /change: C -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID BMPR2_R491W(1); standard; MUTATION; PK Accession K00529 Systematic name g.176299C>T, c.1471C>T, r.1471c>u, p.Arg491Trp Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [5] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 RefNumber [7] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [6] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [6] RefCrossRef PUBMED; 14985116 RefAuthors Zhicheng, J., Lihe, L., Zhiyan, H., Xiansheng, C., Yubao, RefAuthors Z., Yuejin, Y., Rutai, H. RefTitle Bone morphogenetic protein receptor-II mutation Arg491Trp RefTitle causes malignant phenotype of familial primary pulmonary RefTitle hypertension. RefLoc Biochem Biophys Res Commun 315:1033-8 DB CrossRef OMIM; 600799.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176299 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1852 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 491 Feature /change: R -> W Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 11; Patients: 23; Homozygotes: 0 // ID BMPR2_#G367X369(1); standard; MUTATION; PK Accession K00530 Systematic name g.154451delG, c.1099delG, r.1099delg, p.Glu368fsX6 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0009 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154451 Feature /change: -g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1480 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 367 Feature /change: G -> GRKIMQPX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 4; Homozygotes: 0 // ID BMPR2_R491Q(1); standard; MUTATION; PK Accession K00531 Systematic name g.176300G>A, c.1472G>A, r.1472g>a, p.Arg491Gln Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [14] RefCrossRef PUBMED; 15965979 RefAuthors Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., RefAuthors Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., RefAuthors Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen- RefAuthors Sokolowski, A., Trembath, R. C., Laitinen, T. RefTitle BMPR2 mutations have short lifetime expectancy in primary RefTitle pulmonary hypertension. RefLoc Hum Mutat 26:119-24 RefNumber [3] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [8] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [7] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 DB CrossRef OMIM; 600799.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176300 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1853 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 491 Feature /change: R -> Q Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 7; Patients: 7; Homozygotes: 0 // ID BMPR2_#K230X251(1); standard; MUTATION; PK Accession K00532 Systematic name g.142416A>T, c.690A>T, r.690a>u, p.Lys230Asn Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 10903931 RefAuthors Deng, Z., Morse, J. H., Slager, S. L., Cuervo, N., Moore, RefAuthors K. J., Venetos, G., Kalachikov, S., Cayanis, E., Fischer, RefAuthors S. G., Barst, R. J., Hodge, S. E., Knowles, J. A. RefTitle Familial primary pulmonary hypertension (gene PPH1) is RefTitle caused by mutations in the bone morphogenetic protein RefTitle receptor-II gene. RefLoc Am J Hum Genet 67:737-744 (2000) RefNumber [17] RefCrossRef PUBMED; 18503968 RefAuthors Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. RefAuthors K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, RefAuthors N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J. RefTitle Clinical implications of determining BMPR2 mutation status RefTitle in a large cohort of children and adults with pulmonary RefTitle arterial hypertension. RefLoc J Heart Lung Transplant 27:668-74 RefNumber [3] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [5] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0014 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142416 Feature /change: a -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1071 Feature /codon: aaa -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 230 Feature /change: K -> N Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 4; Patients: 5; Homozygotes: 0 // ID BMPR2_D485G(1); standard; MUTATION; PK Accession K00533 Systematic name g.176282A>G, c.1454A>G, r.1454a>g, p.Asp485Gly Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10973254 RefAuthors Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. RefAuthors R., Phillips, J. A., Loyd, J. E., Nichols, W. C., RefAuthors Trembath, R. C. RefTitle Heterozygous germline mutations in BMPR2, encoding a TGF- RefTitle beta receptor, cause familial primary pulmonary RefTitle hypertension. the international PPH consortium. RefLoc Nat Genet 26:81-84 (2000) RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176282 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1835 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 485 Feature /change: D -> G Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID BMPR2_C347Y(1); standard; MUTATION; PK Accession K00534 Systematic name g.154392G>A, c.1040G>A, r.1040g>a, p.Cys347Tyr Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10973254 RefAuthors Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. RefAuthors R., Phillips, J. A., Loyd, J. E., Nichols, W. C., RefAuthors Trembath, R. C. RefTitle Heterozygous germline mutations in BMPR2, encoding a TGF- RefTitle beta receptor, cause familial primary pulmonary RefTitle hypertension. the international PPH consortium. RefLoc Nat Genet 26:81-84 (2000) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 DB CrossRef OMIM; 600799.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154392 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1421 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 347 Feature /change: C -> Y Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BMPR2_@G263X265(1); standard; MUTATION; PK Accession K00535 Systematic name g.142512dupT, c.786dupT, r.786dupu, p.Gly263fsX2 Description A frame shift duplication mutation in the exon 6 leading to Description a premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 142513 Feature /change: +t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1168 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 263 Feature /change: G -> WRX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#I416X418(1); standard; MUTATION; PK Accession K00536 Systematic name g.156230delA, c.1248delA, r.1248dela, p.Phe417fsX1 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [12] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156230 Feature /change: -a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1629 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 416 Feature /change: I -> ILX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BMPR2_@I416X419(1); standard; MUTATION; PK Accession K00537 Systematic name g.156228_156229insG, c.1246_1247insG, r.1246_1247insg, Systematic name p.Ile416fsX31 Description A frame shift insertion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: BMPR2_DNA: 156229 Feature /change: +g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1628 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 416 Feature /change: I -> SIYEMYRPLP RGIRTRVPDG FSDRGWKPSH FX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_C483R(1); standard; MUTATION; PK Accession K00538 Systematic name g.176275T>C, c.1447T>C, r.1447u>c, p.Cys483Arg Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11015450 RefAuthors Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, RefAuthors N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., RefAuthors Mikhail, G., Rogers, P., Newman, J., Wheeler, L., RefAuthors Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., RefAuthors Peacock, A., Allcock, R., Corris, P., Loyd, J. E., RefAuthors Trembath, R. C., Nichols, W. C. RefTitle Sporadic primary pulmonary hypertension is associated with RefTitle germline mutations of the gene encoding BMPR-II, a RefTitle receptor member of the TGF-beta family. RefLoc J Med Genet 37:741-745 (2000) RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176275 Feature /change: t -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1828 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 483 Feature /change: C -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_R273X(1); standard; MUTATION; PK Accession K00539 Systematic name g.161628C>T, c.817C>T, r.817c>u, p.Arg273X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161628 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1126 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 273 Feature /change: R -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_R361X(1); standard; MUTATION; PK Accession K00540 Systematic name g.163737C>T, c.1081C>T, r.1081c>u, p.Arg361X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163737 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1390 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 361 Feature /change: R -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_A338D(1); standard; MUTATION; PK Accession K00541 Systematic name g.163669C>A, c.1013C>A, r.1013c>a, p.Ala338Asp Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) DB CrossRef OMIM; 601299.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163669 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1322 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 338 Feature /change: A -> D Feature /domain: PK Diagnosis Cowden-like syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_C376Y(1); standard; MUTATION; PK Accession K00542 Systematic name g.163783G>A, c.1127G>A, r.1127g>a, p.Cys376Tyr Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) DB CrossRef OMIM; 601299.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163783 Feature /change: g -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1436 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 376 Feature /change: C -> Y Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_Q239X(1); standard; MUTATION; PK Accession K00543 Systematic name g.161526C>T, c.715C>T, r.715c>u, p.Gln239X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11381269 RefAuthors Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., RefAuthors Mitros, F. A., Petersen, G. M., Velculescu, V. E., RefAuthors Traverso, G., Vogelstein, B. RefTitle Germline mutations of the gene encoding bone morphogenetic RefTitle protein receptor 1A in juvenile polyposis. RefLoc Nat Genet 28:184-187 (2001) DB CrossRef OMIM; 601299.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161526 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1024 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 239 Feature /change: Q -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 8; Homozygotes: 0 // ID BMPR1A_W271X(1); standard; MUTATION; PK Accession K00544 Systematic name g.161623G>A, c.812G>A, r.812g>a, p.Trp271X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11381269 RefAuthors Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., RefAuthors Mitros, F. A., Petersen, G. M., Velculescu, V. E., RefAuthors Traverso, G., Vogelstein, B. RefTitle Germline mutations of the gene encoding bone morphogenetic RefTitle protein receptor 1A in juvenile polyposis. RefLoc Nat Genet 28:184-187 (2001) DB CrossRef OMIM; 601299.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161623 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1121 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 271 Feature /change: W -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 6; Homozygotes: 0 // ID BMPR1A_L321X(1); standard; MUTATION; PK Accession K00545 Systematic name g.163617delC, c.961delC, r.961delc, p.Leu321X Description A deletion mutation in the exon 10 leading to a premature Description stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11381269 RefAuthors Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., RefAuthors Mitros, F. A., Petersen, G. M., Velculescu, V. E., RefAuthors Traverso, G., Vogelstein, B. RefTitle Germline mutations of the gene encoding bone morphogenetic RefTitle protein receptor 1A in juvenile polyposis. RefLoc Nat Genet 28:184-187 (2001) DB CrossRef OMIM; 601299.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 163617 Feature /change: -c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1270 Feature /codon: ctg -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 321 Feature /change: L -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 5; Homozygotes: 0 // ID BMPR1A_#V262X275(1); standard; MUTATION; PK Accession K00546 Systematic name g.161595delG, c.784delG, r.784delg, p.Val262fsX20 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 161595 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1093 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 262 Feature /change: V -> YSLPLKKPAG FEKQKSTKLC X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#E276X285(1); standard; MUTATION; PK Accession K00547 Systematic name g.161637delG, c.826delG, r.826delg, p.Glu276fsX6 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11536076 RefAuthors Zhou, X. P., Woodford-Richens, K., Lehtonen, R., Kurose, RefAuthors K., Aldred, M., Hampel, H., Launonen, V., Virta, S., RefAuthors Pilarski, R., Salovaara, R., Bodmer, W. F., Conrad, B. A., RefAuthors Dunlop, M., Hodgson, S. V., Iwama, T., Jarvinen, H., RefAuthors Kellokumpu, I., Kim, J. C., Leggett, B., Markie, D., RefAuthors Mecklin, J. P., Neale, K., Phillips, R., Piris, J., Rozen, RefAuthors P., Houlston, R. S., Aaltonen, L. A., Tomlinson, I. P., RefAuthors Eng, C. RefTitle Germline mutations in BMPR1A/ALK3 cause a subset of cases RefTitle of juvenile polyposis syndrome and of cowden and bannayan- RefTitle riley-ruvalcaba syndromes. RefLoc Am J Hum Genet 69:704-711 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 161637 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1135 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 276 Feature /change: E -> KSTKLCX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_E768D(2); standard; MUTATION; PK Accession K00548 Systematic name g.42329G>T, c.2304G>T, r.2304g>u, p.Glu768Asp Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () DB CrossRef OMIM; 164761.0027 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42329 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2499 Feature /codon: gag -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 768 Feature /change: E -> D Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_V804L(2); standard; MUTATION; PK Accession K00549 Systematic name g.43485G>C, c.2410G>C, r.2410g>c, p.Val804Leu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 30-Jan-2004 (Rel. 2, Created) Date 30-Jan-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14718397 RefAuthors Kruckeberg, K. E., Thibodeau, S. N. RefTitle Pyrosequencing technology as a method for the diagnosis of RefTitle multiple endocrine neoplasia type 2. RefLoc Clin Chem : () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43485 Feature /change: g -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2605 Feature /codon: gtg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 804 Feature /change: V -> L Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S795R(1); standard; MUTATION; PK Accession K00550 Systematic name g.42410C>A, c.2385C>A, r.2385c>a, p.Ser795Arg Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 02-Feb-2004 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10646792 RefAuthors Sancandi, M., Ceccherini, I., Costa, M., Fava, M., Chen, RefAuthors B., Wu, Y., Hofstra, R., Laurie, T., Griffths, M., Burge, RefAuthors D., Tam, P. K. RefTitle Incidence of RET mutations in patients with hirschsprung's RefTitle disease. RefLoc J Pediatr Surg 35:139-42; discussion 1421-3 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42410 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2580 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 795 Feature /change: S -> R Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S922P(1); standard; MUTATION; PK Accession K00551 Systematic name g.45916T>C, c.2764T>C, r.2764u>c, p.Ser922Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Feb-2004 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14618242 RefAuthors Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., RefAuthors Bendlova, B. RefTitle The newly detected mutations in the RET proto-oncogene in RefTitle exon 16 as a cause of sporadic medullary thyroid RefTitle carcinoma. RefLoc J Mol Med 81:819-823 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45916 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2959 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 922 Feature /change: S -> P Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 1 Comment -!-Loss of heterozygosity detected // ID RET_T930M(1); standard; MUTATION; PK Accession K00552 Systematic name g.45941C>T, c.2789C>T, r.2789c>u, p.Thr930Met Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 02-Feb-2004 (Rel. 2, Created) Date 02-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14618242 RefAuthors Jindrichova, S., Kodet, R., Krskova, L., Vlcek, P., RefAuthors Bendlova, B. RefTitle The newly detected mutations in the RET proto-oncogene in RefTitle exon 16 as a cause of sporadic medullary thyroid RefTitle carcinoma. RefLoc J Mol Med 81:819-823 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45941 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2984 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 930 Feature /change: T -> M Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_G849S(1); standard; MUTATION; PK Accession K00553 Systematic name g.43620G>A, c.2545G>A, r.2545g>a, p.Gly849Ser Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12632375 RefAuthors Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., RefAuthors Hollwarth, M. E., Green, A., Puri, P. RefTitle Mutation analysis of the RET gene in total intestinal RefTitle aganglionosis by wave DNA fragment analysis system. RefLoc J Pediatr Surg 38:497-501 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43620 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2740 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 849 Feature /change: G -> S Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected together with G667S, L746L, S880S // ID RET_R873X(1); standard; MUTATION; PK Accession K00554 Systematic name g.44027C>T, c.2617C>T, r.2617c>u, p.Arg873Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12632375 RefAuthors Solari, V., Ennis, S., Yoneda, A., Wong, L., Messineo, A., RefAuthors Hollwarth, M. E., Green, A., Puri, P. RefTitle Mutation analysis of the RET gene in total intestinal RefTitle aganglionosis by wave DNA fragment analysis system. RefLoc J Pediatr Surg 38:497-501 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44027 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2812 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 873 Feature /change: R -> W Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected together with G667S // ID RET_P841L(1); standard; MUTATION; PK Accession K00555 Systematic name g.43597C>T, c.2522C>T, r.2522c>u, p.Pro841Leu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12566528 RefAuthors Fitze, G., Paditz, E., Schlafke, M., Kuhlisch, E., RefAuthors Roesner, D., Schackert, H. K. RefTitle Association of germline mutations and polymorphisms of the RefTitle RET proto-oncogene with idiopathic congenital central RefTitle hypoventilation syndrome in 33 patients. RefLoc J Med Genet 40:E10 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43597 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2717 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 841 Feature /change: P -> L Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The patients was affected in congenital central Comment -!-hypoventilation syndrome (CCHS) too // ID STK11_I177N(1); standard; MUTATION; PK Accession K00556 Systematic name g.14525T>A, c.530T>A, r.530u>a, p.Ile177Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12112668 RefAuthors Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., RefAuthors Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., RefAuthors Piepoli, A., Grammatico, P., Guanti, G. RefTitle Two novel mutations and a new STK11/LKB1 gene isoform in RefTitle peutz-jeghers patients. RefLoc Hum Mutat 20:78-79 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14525 Feature /change: t -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 868 Feature /codon: atc -> aac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 177 Feature /change: I -> N Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_R304W(1); standard; MUTATION; PK Accession K00557 Systematic name g.16083C>T, c.910C>T, r.910c>u, p.Arg304Trp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 7) RefNumber [1] RefCrossRef PUBMED; 12112668 RefAuthors Resta, N., Stella, A., Susca, F. C., Di Giacomo, M., RefAuthors Forleo, G., Miccolis, I., Rossini, F. P., Genuardi, M., RefAuthors Piepoli, A., Grammatico, P., Guanti, G. RefTitle Two novel mutations and a new STK11/LKB1 gene isoform in RefTitle peutz-jeghers patients. RefLoc Hum Mutat 20:78-79 (2002) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [7] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 RefNumber [6] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 RefNumber [6] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 16083 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1248 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 304 Feature /change: R -> W Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 7; Patients: 10; Homozygotes: 0 // ID STK11_L160P(1); standard; MUTATION; PK Accession K00558 Systematic name g.14474T>C, c.479T>C, r.479u>c, p.Leu160Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12533684 RefAuthors Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., RefAuthors Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., RefAuthors Konishi, I., Fujii, S. RefTitle Mutations in the STK11 gene characterize minimal deviation RefTitle adenocarcinoma of the uterine cervix. RefLoc Lab Invest 83:35-45 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14474 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 817 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 160 Feature /change: L -> P Feature /domain: PK Diagnosis Minimal deviation adenocarcinoma (MDA) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_F231L(1); standard; MUTATION; PK Accession K00559 Systematic name g.14761T>C, c.691T>C, r.691u>c, p.Phe231Leu Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 03-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12533684 RefAuthors Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., RefAuthors Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., RefAuthors Konishi, I., Fujii, S. RefTitle Mutations in the STK11 gene characterize minimal deviation RefTitle adenocarcinoma of the uterine cervix. RefLoc Lab Invest 83:35-45 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14761 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1029 Feature /codon: ttc -> ctc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 231 Feature /change: F -> L Feature /domain: PK Diagnosis Minimal deviation adenocarcinoma (MDA) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_V66M(1); standard; MUTATION; PK Accession K00560 Systematic name g.1196G>A, c.196G>A, r.196g>a, p.Val66Met Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 03-Feb-2004 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12533684 RefAuthors Kuragaki, C., Enomoto, T., Ueno, Y., Sun, H., Fujita, M., RefAuthors Nakashima, R., Ueda, Y., Wada, H., Murata, Y., Toki, T., RefAuthors Konishi, I., Fujii, S. RefTitle Mutations in the STK11 gene characterize minimal deviation RefTitle adenocarcinoma of the uterine cervix. RefLoc Lab Invest 83:35-45 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1196 Feature /change: g -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 534 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 66 Feature /change: V -> M Feature /domain: PK Diagnosis Minimal deviation adenocarcinoma (MDA) Diagnosis Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TGFBR2_V250A(1); standard; MUTATION; PK Accession K00561 Systematic name g.66055T>C, c.749T>C, r.749u>c, p.Val250Ala Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66055 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2321 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 250 Feature /change: V -> A Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_Y448C(1); standard; MUTATION; PK Accession K00562 Systematic name g.68316A>G, c.1343A>G, r.1343a>g, p.Tyr448Cys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68316 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2915 Feature /codon: tac -> tgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 448 Feature /change: Y -> C Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_K488E(1); standard; MUTATION; PK Accession K00563 Systematic name g.82572A>G, c.1462A>G, r.1462a>g, p.Lys488Glu Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82572 Feature /change: a -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3034 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 488 Feature /change: K -> E Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_M373I(1); standard; MUTATION; PK Accession K00564 Systematic name g.66425G>T, c.1119G>T, r.1119g>u, p.Met373Ile Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66425 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2691 Feature /codon: atg -> att; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 373 Feature /change: M -> I Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_S401F(1); standard; MUTATION; PK Accession K00565 Systematic name g.66508C>T, c.1202C>T, r.1202c>u, p.Ser401Phe Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 04-Feb-2004 (Rel. 2, Created) Date 04-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9395234 RefAuthors Wang, D., Song, H., Evans, J. A., Lang, J. C., Schuller, RefAuthors D. E., Weghorst, C. M. RefTitle Mutation and downregulation of the transforming growth RefTitle factor beta type II receptor gene in primary squamous cell RefTitle carcinomas of the head and neck. RefLoc Carcinogenesis 18:2285-2290 (1997) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66508 Feature /change: c -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2774 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 401 Feature /change: S -> F Feature /domain: PK Diagnosis Head and neck squamous carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PAK3_A365E(1); standard; MUTATION; PK Accession K00566 Systematic name g.72299C>A, c.1094C>A, r.1094c>a, p.Ala365Glu Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12884430 RefAuthors Gedeon, A. K., Nelson, J., Gecz, J., Mulley, J. C. RefTitle X-linked mild non-syndromic mental retardation with RefTitle neuropsychiatric problems and the missense mutation A365E RefTitle in PAK3. RefLoc Am J Med Genet 120A:509-517 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PAK3_DNA: 72299 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF068864; GI:6174887; AF068864: 1094 Feature /codon: gca -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PAK3_HUMAN: 365 Feature /change: A -> E Feature /domain: PK Diagnosis X-linked nonsyndromic mental retardation (MRX) Diagnosis X-linked nonsyndromic mental retardation (MRX) Occurrence Families: 2; Patients: 38; Homozygotes: 0 // ID FLT3_D835Y(1); standard; MUTATION; PK Accession K00567 Systematic name g.53109G>T, c.2503G>T, r.2503g>u, p.Asp835Tyr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 13) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) RefNumber [2] RefCrossRef PUBMED; 12239147 RefAuthors Kottaridis, P. D., Gale, R. E., Langabeer, S. E., Frew, M. RefAuthors E., Bowen, D. T., Linch, D. C. RefTitle Studies of FLT3 mutations in paired presentation and RefTitle relapse samples from patients with acute myeloid leukemia: RefTitle implications for the role of FLT3 mutations in RefTitle leukemogenesis, minimal residual disease detection, and RefTitle possible therapy with FLT3 inhibitors. RefLoc Blood 100:2393-2398 (2002) RefNumber [3] RefCrossRef PUBMED; 12551822 RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, RefAuthors J., Torres, A., Sanz, M. A. RefTitle Incidence and prognostic value of FLT3 internal tandem RefTitle duplication and D835 mutations in acute myeloid leukemia. RefLoc Haematologica 88:19-24 (2003) RefNumber [4] RefCrossRef PUBMED; 12692519 RefAuthors Sheikhha, M. H., Awan, A., Tobal, K., Liu Yin, J. A. RefTitle Prognostic significance of FLT3 ITD and D835 mutations in RefTitle AML patients. RefLoc Hematol J 4:41-46 (2003) RefNumber [5] RefCrossRef PUBMED; 12750701 RefAuthors Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen, RefAuthors S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H. RefTitle FLT3-TKD mutation in childhood acute myeloid leukemia. RefLoc Leukemia 17:883-886 (2003) RefNumber [6] RefCrossRef PUBMED; 14630076 RefAuthors Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C., RefAuthors Brunet, S., Aventin, A., Sierra, J. RefTitle FLT3 mutations are associated with other molecular lesions RefTitle in AML. RefLoc Leuk Res 28:19-23 (2004) RefNumber [7] RefCrossRef PUBMED; 11442493 RefAuthors Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. RefAuthors S., Peake, I. R., Reilly, J. T. RefTitle Identification of novel FLT-3 asp835 mutations in adult RefTitle acute myeloid leukaemia. RefLoc Br J Haematol 113:983-988 (2001) RefNumber [8] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) RefNumber [9] RefCrossRef PUBMED; 14737077 RefAuthors Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. RefAuthors L., Dunn, P., Kuo, M. C. RefTitle Acquisition of FLT3 or N-ras mutations is frequently RefTitle associated with progression of myelodysplastic syndrome to RefTitle acute myeloid leukemia. RefLoc Leukemia 18:466-475 (2004) RefNumber [11] RefCrossRef PUBMED; 17943971 RefAuthors Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., RefAuthors Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., RefAuthors Fioretos, T. RefTitle FLT3 mutations in a 10 year consecutive series of 177 RefTitle childhood acute leukemias and their impact on global gene RefTitle expression patterns. RefLoc Genes Chromosomes Cancer 47:64-70 RefNumber [13] RefCrossRef PUBMED; 20875128 RefAuthors Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., RefAuthors Buffler, P., Wiemels, J. RefTitle FLT3 mutation incidence and timing of origin in a RefTitle population case series of pediatric leukemia. RefLoc BMC Cancer 10:513 DB CrossRef OMIM; 136351.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53109 Feature /change: g -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> Y Feature /domain: PK Diagnosis Acute myeloid leukemia Diagnosis Myelodysplastic syndrome Occurrence Families: 82; Patients: 82; Homozygotes: 0 Comment -!-Pediatric Leukemia // ID FLT3_D835V(1); standard; MUTATION; PK Accession K00568 Systematic name g.53110A>T, c.2504A>T, r.2504a>u, p.Asp835Val Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) RefNumber [2] RefCrossRef PUBMED; 12551822 RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, RefAuthors J., Torres, A., Sanz, M. A. RefTitle Incidence and prognostic value of FLT3 internal tandem RefTitle duplication and D835 mutations in acute myeloid leukemia. RefLoc Haematologica 88:19-24 (2003) RefNumber [3] RefCrossRef PUBMED; 12750701 RefAuthors Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen, RefAuthors S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H. RefTitle FLT3-TKD mutation in childhood acute myeloid leukemia. RefLoc Leukemia 17:883-886 (2003) RefNumber [4] RefCrossRef PUBMED; 14630076 RefAuthors Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C., RefAuthors Brunet, S., Aventin, A., Sierra, J. RefTitle FLT3 mutations are associated with other molecular lesions RefTitle in AML. RefLoc Leuk Res 28:19-23 (2004) RefNumber [5] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) RefNumber [7] RefCrossRef PUBMED; 17943971 RefAuthors Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., RefAuthors Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., RefAuthors Fioretos, T. RefTitle FLT3 mutations in a 10 year consecutive series of 177 RefTitle childhood acute leukemias and their impact on global gene RefTitle expression patterns. RefLoc Genes Chromosomes Cancer 47:64-70 RefNumber [9] RefCrossRef PUBMED; 20875128 RefAuthors Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., RefAuthors Buffler, P., Wiemels, J. RefTitle FLT3 mutation incidence and timing of origin in a RefTitle population case series of pediatric leukemia. RefLoc BMC Cancer 10:513 DB CrossRef OMIM; 136351.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53110 Feature /change: a -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2561 Feature /codon: gat -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> V Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 17; Patients: 17; Homozygotes: 0 // ID FLT3_D835H(1); standard; MUTATION; PK Accession K00569 Systematic name g.53109G>C, c.2503G>C, r.2503g>c, p.Asp835His Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 9) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) RefNumber [2] RefCrossRef PUBMED; 12551822 RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, RefAuthors J., Torres, A., Sanz, M. A. RefTitle Incidence and prognostic value of FLT3 internal tandem RefTitle duplication and D835 mutations in acute myeloid leukemia. RefLoc Haematologica 88:19-24 (2003) RefNumber [3] RefCrossRef PUBMED; 12750701 RefAuthors Liang, D. C., Shih, L. Y., Hung, I. J., Yang, C. P., Chen, RefAuthors S. H., Jaing, T. H., Liu, H. C., Wang, L. Y., Chang, W. H. RefTitle FLT3-TKD mutation in childhood acute myeloid leukemia. RefLoc Leukemia 17:883-886 (2003) RefNumber [4] RefCrossRef PUBMED; 11442493 RefAuthors Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. RefAuthors S., Peake, I. R., Reilly, J. T. RefTitle Identification of novel FLT-3 asp835 mutations in adult RefTitle acute myeloid leukaemia. RefLoc Br J Haematol 113:983-988 (2001) RefNumber [5] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) RefNumber [6] RefCrossRef PUBMED; 14737077 RefAuthors Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. RefAuthors L., Dunn, P., Kuo, M. C. RefTitle Acquisition of FLT3 or N-ras mutations is frequently RefTitle associated with progression of myelodysplastic syndrome to RefTitle acute myeloid leukemia. RefLoc Leukemia 18:466-475 (2004) RefNumber [8] RefCrossRef PUBMED; 17943971 RefAuthors Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., RefAuthors Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., RefAuthors Fioretos, T. RefTitle FLT3 mutations in a 10 year consecutive series of 177 RefTitle childhood acute leukemias and their impact on global gene RefTitle expression patterns. RefLoc Genes Chromosomes Cancer 47:64-70 RefNumber [11] RefCrossRef PUBMED; 20875128 RefAuthors Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., RefAuthors Buffler, P., Wiemels, J. RefTitle FLT3 mutation incidence and timing of origin in a RefTitle population case series of pediatric leukemia. RefLoc BMC Cancer 10:513 DB CrossRef OMIM; 136351.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53109 Feature /change: g -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560 Feature /codon: gat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> H Feature /domain: PK Diagnosis Acute myeloid leukemia Diagnosis Occurrence Families: 29; Patients: 29; Homozygotes: 0 Comment -!-Pediatric Leukemia // ID FLT3_D835E(1); standard; MUTATION; PK Accession K00570 Systematic name g.53111T>A, c.2505T>A, r.2505u>a, p.Asp835Glu Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) RefNumber [2] RefCrossRef PUBMED; 14630076 RefAuthors Carnicer, M. J., Nomdedeu, J. F., Lasa, A., Estivill, C., RefAuthors Brunet, S., Aventin, A., Sierra, J. RefTitle FLT3 mutations are associated with other molecular lesions RefTitle in AML. RefLoc Leuk Res 28:19-23 (2004) RefNumber [5] RefCrossRef PUBMED; 20875128 RefAuthors Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., RefAuthors Buffler, P., Wiemels, J. RefTitle FLT3 mutation incidence and timing of origin in a RefTitle population case series of pediatric leukemia. RefLoc BMC Cancer 10:513 DB CrossRef OMIM; 136351.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53111 Feature /change: t -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2562 Feature /codon: gat -> gaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> E Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID FLT3_D835N(1); standard; MUTATION; PK Accession K00571 Systematic name g.53109G>A, c.2503G>A, r.2503g>a, p.Asp835Asn Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) RefNumber [2] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) DB CrossRef OMIM; 136351.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53109 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560 Feature /codon: gat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> N Feature /domain: PK Diagnosis Acute lymphocytic leukemia Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FLT3_@I836+1(1); standard; MUTATION; PK Accession K00572 Systematic name g.53112A>T, c.2506A>T, r.2506a>u, p.Ile836Phe Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 05-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11290608 RefAuthors Yamamoto, Y., Kiyoi, H., Nakano, Y., Suzuki, R., Kodera, RefAuthors Y., Miyawaki, S., Asou, N., Kuriyama, K., Yagasaki, F., RefAuthors Shimazaki, C., Akiyama, H., Saito, K., Nishimura, M., RefAuthors Motoji, T., Shinagawa, K., Takeshita, A., Saito, H., Ueda, RefAuthors R., Ohno, R., Naoe, T. RefTitle Activating mutation of D835 within the activation loop of RefTitle FLT3 in human hematologic malignancies. RefLoc Blood 97:2434-2439 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53112 Feature /change: a -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2563 Feature /codon: atc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 836 Feature /change: I -> F Feature /domain: PK Diagnosis Myelodysplastic syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FLT3_D835A(1); standard; MUTATION; PK Accession K00573 Systematic name g.53110A>C, c.2504A>C, r.2504a>c, p.Asp835Ala Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12551822 RefAuthors Moreno, I., Martin, G., Bolufer, P., Barragan, E., Rueda, RefAuthors E., Roman, J., Fernandez, P., Leon, P., Mena, A., Cervera, RefAuthors J., Torres, A., Sanz, M. A. RefTitle Incidence and prognostic value of FLT3 internal tandem RefTitle duplication and D835 mutations in acute myeloid leukemia. RefLoc Haematologica 88:19-24 (2003) RefNumber [5] RefCrossRef PUBMED; 20875128 RefAuthors Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., RefAuthors Buffler, P., Wiemels, J. RefTitle FLT3 mutation incidence and timing of origin in a RefTitle population case series of pediatric leukemia. RefLoc BMC Cancer 10:513 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53110 Feature /change: a -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2561 Feature /codon: gat -> gct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> A Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Pediatric Leukemia // ID FLT3_D835E(2); standard; MUTATION; PK Accession K00574 Systematic name g.53111T>G, c.2505T>G, r.2505u>g, p.Asp835Glu Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 05-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12692519 RefAuthors Sheikhha, M. H., Awan, A., Tobal, K., Liu Yin, J. A. RefTitle Prognostic significance of FLT3 ITD and D835 mutations in RefTitle AML patients. RefLoc Hematol J 4:41-46 (2003) RefNumber [2] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53111 Feature /change: t -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2562 Feature /codon: gat -> gag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> E Feature /domain: PK Diagnosis Acute myeloid leukemia Diagnosis Occurrence Families: 10; Patients: 10; Homozygotes: 0 // ID FLT3_#D835-1(1); standard; MUTATION; PK Accession K00575 Systematic name g.53109delG, c.2503delG, r.2503delg, p.Asp835fsX2 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11442493 RefAuthors Abu-Duhier, F. M., Goodeve, A. C., Wilson, G. A., Care, R. RefAuthors S., Peake, I. R., Reilly, J. T. RefTitle Identification of novel FLT-3 asp835 mutations in adult RefTitle acute myeloid leukaemia. RefLoc Br J Haematol 113:983-988 (2001) DB CrossRef OMIM; 136351.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: FLT3_DNA: 53109 Feature /change: -g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> ISX Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_A680V(1); standard; MUTATION; PK Accession K00576 Systematic name g.43422C>T, c.2039C>T, r.2039c>u, p.Ala680Val Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 05-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14554237 RefAuthors Piccaluga, P. P., Bianchini, M., Martinelli, G. RefTitle Novel FLT3 point mutation in acute myeloid leukaemia. RefLoc Lancet Oncol 4:604 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 43422 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2096 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 680 Feature /change: A -> V Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_D835G(1); standard; MUTATION; PK Accession K00577 Systematic name g.53110A>G, c.2504A>G, r.2504a>g, p.Asp835Gly Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 05-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53110 Feature /change: a -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2561 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> G Feature /domain: PK Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID FLT3_#I836-1(1); standard; MUTATION; PK Accession K00578 Systematic name g.53112delA, c.2506delA, r.2506dela, p.Ile836fsX1 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) RefNumber [3] RefCrossRef PUBMED; 17943971 RefAuthors Andersson, A., Paulsson, K., Lilljebjorn, H., Lassen, C., RefAuthors Strombeck, B., Heldrup, J., Behrendtz, M., Johansson, B., RefAuthors Fioretos, T. RefTitle FLT3 mutations in a 10 year consecutive series of 177 RefTitle childhood acute leukemias and their impact on global gene RefTitle expression patterns. RefLoc Genes Chromosomes Cancer 47:64-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: FLT3_DNA: 53112 Feature /change: -a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U02687; GI:544320; HS02687: 2563 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FLT3_HUMAN: 836 Feature /change: I -> SX Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 18; Patients: 18; Homozygotes: 0 // ID FLT3_I836T(1); standard; MUTATION; PK Accession K00579 Systematic name g.53113T>C, c.2507T>C, r.2507u>c, p.Ile836Thr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 05-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53113 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2564 Feature /codon: atc -> acc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 836 Feature /change: I -> T Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_@I836+1(2); standard; MUTATION; PK Accession K00580 Systematic name g.53113_53114insG, c.2507_2508insG, r.2507_2508insg, Systematic name p.Ile836fsX3 Description A frame shift insertion mutation in the exon 19 leading to Description a premature stop codon in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 05-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12036858 RefAuthors Thiede, C., Steudel, C., Mohr, B., Schaich, M., Schakel, RefAuthors U., Platzbecker, U., Wermke, M., Bornhauser, M., Ritter, RefAuthors M., Neubauer, A., Ehninger, G., Illmer, T. RefTitle Analysis of FLT3-activating mutations in 979 patients with RefTitle acute myelogenous leukemia: association with FAB subtypes RefTitle and identification of subgroups with poor prognosis. RefLoc Blood 99:4326-4335 (2002) Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: FLT3_DNA: 53114 Feature /change: +g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U02687; GI:544320; HS02687: 2565 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FLT3_HUMAN: 836 Feature /change: I -> MHEX Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_@N841+2(1); standard; MUTATION; PK Accession K00581 Systematic name g.53126_53127insG, c.2520_2521insG, r.2520_2521insg, Systematic name p.Asn841fsX21 Description A frame shift insertion mutation in the exon 19 leading to Description a premature stop codon in the PK domain Date 05-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12384447 RefAuthors Spiekermann, K., Bagrintseva, K., Schoch, C., Haferlach, RefAuthors T., Hiddemann, W., Schnittger, S. RefTitle A new and recurrent activating length mutation in exon 20 RefTitle of the FLT3 gene in acute myeloid leukemia. RefLoc Blood 100:3423-3425 (2002) DB CrossRef OMIM; 136351.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: FLT3_DNA: 53127 Feature /change: +g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U02687; GI:544320; HS02687: 2578 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FLT3_HUMAN: 841 Feature /change: N -> ELCCQGQCPS ACKMDGPRKP VX Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR1A_M470T(1); standard; MUTATION; PK Accession K00582 Systematic name g.167795T>C, c.1409T>C, r.1409u>c, p.Met470Thr Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12630959 RefAuthors Kim, I. J., Park, J. H., Kang, H. C., Kim, K. H., Kim, J. RefAuthors H., Ku, J. L., Kang, S. B., Park, S. Y., Lee, J. S., Park, RefAuthors J. G. RefTitle Identification of a novel BMPR1A germline mutation in a RefTitle korean juvenile polyposis patient without SMAD4 mutation. RefLoc Clin Genet 63:126-130 (2003) DB CrossRef OMIM; 601299.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 167795 Feature /change: t -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1718 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 470 Feature /change: M -> T Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID GUCY2D_R660Q(1); standard; MUTATION; PK Accession K00583 Systematic name g.8429G>A, c.1979G>A, r.1979g>a, p.Arg660Gln Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12623820 RefAuthors Milam, A. H., Barakat, M. R., Gupta, N., Rose, L., Aleman, RefAuthors T. S., Pianta, M. J., Cideciyan, A. V., Sheffield, V. C., RefAuthors Stone, E. M., Jacobson, S. G. RefTitle Clinicopathologic effects of mutant GUCY2D in leber RefTitle congenital amaurosis. RefLoc Ophthalmology 110:549-558 (2003) RefNumber [2] RefCrossRef PUBMED; 10766140 RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., RefAuthors Stone, E. M. RefTitle Mutation analysis of 3 genes in patients with leber RefTitle congenital amaurosis. RefLoc Arch Ophthalmol 118:538-543 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 8429 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2052 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 660 Feature /change: R -> Q Feature /domain: PK Diagnosis Leber congenital amaurosis Diagnosis Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID GUCY2D_F565S(1); standard; MUTATION; PK Accession K00584 Systematic name g.6858T>C, c.1694T>C, r.1694u>c, p.Phe565Ser Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 10951519 RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, RefAuthors D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J. RefAuthors L., Munnich, A., Kaplan, J. RefTitle Spectrum of retGC1 mutations in leber's congenital RefTitle amaurosis. RefLoc Eur J Hum Genet 8:578-582 (2000) RefNumber [2] RefCrossRef PUBMED; 8944027 RefAuthors Perrault, I., Rozet, J. M., Calvas, P., Gerber, S., RefAuthors Camuzat, A., Dollfus, H., Chxtelin, S., Souied, E., Ghazi, RefAuthors I., Leowski, C., Bonnemaison, M., Le Paslier, D., Frezal, RefAuthors J., Dufier, J. L., Pittler, S., Munnich, A., Kaplan, J. RefTitle Retinal-specific guanylate cyclase gene mutations in RefTitle leber's congenital amaurosis. RefLoc Nat Genet 14:461-464 (1996) DB CrossRef OMIM; 600179.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 6858 Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1767 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 565 Feature /change: F -> S Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 5; Patients: 5; Homozygotes: 3 // ID GUCY2D_#R602X628(1); standard; MUTATION; PK Accession K00585 Systematic name g.8156delG, c.1805delG, r.1805delg, p.Gly603fsX33 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10951519 RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, RefAuthors D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J. RefAuthors L., Munnich, A., Kaplan, J. RefTitle Spectrum of retGC1 mutations in leber's congenital RefTitle amaurosis. RefLoc Eur J Hum Genet 8:578-582 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: AJ222657: 8156 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1878 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CYGD_HUMAN: 602 Feature /change: R -> REQKALRPSG RATWLWSQST ARGALFRTSS LREKX Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID GUCY2D_R540C(1); standard; MUTATION; PK Accession K00586 Systematic name g.5311C>T, c.1618C>T, r.1618c>u, p.Arg540Cys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10951519 RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, RefAuthors D., Souied, E., Leowski, C., Bonnemaison, M., Dufier, J. RefAuthors L., Munnich, A., Kaplan, J. RefTitle Spectrum of retGC1 mutations in leber's congenital RefTitle amaurosis. RefLoc Eur J Hum Genet 8:578-582 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 5311 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1691 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 540 Feature /change: R -> C Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID GUCY2D_Y746C(1); standard; MUTATION; PK Accession K00587 Systematic name g.9184A>G, c.2237A>G, r.2237a>g, p.Tyr746Cys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10766140 RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., RefAuthors Stone, E. M. RefTitle Mutation analysis of 3 genes in patients with leber RefTitle congenital amaurosis. RefLoc Arch Ophthalmol 118:538-543 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 9184 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2310 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 746 Feature /change: Y -> C Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID GUCY2D_R660X(1); standard; MUTATION; PK Accession K00588 Systematic name g.8428C>T, c.1978C>T, r.1978c>u, p.Arg660X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10766140 RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., RefAuthors Stone, E. M. RefTitle Mutation analysis of 3 genes in patients with leber RefTitle congenital amaurosis. RefLoc Arch Ophthalmol 118:538-543 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 8428 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2051 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CYGD_HUMAN: 660 Feature /change: R -> X Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID GUCY2D_R768W(1); standard; MUTATION; PK Accession K00589 Systematic name g.9875C>T, c.2302C>T, r.2302c>u, p.Arg768Trp Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10766140 RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., RefAuthors Stone, E. M. RefTitle Mutation analysis of 3 genes in patients with leber RefTitle congenital amaurosis. RefLoc Arch Ophthalmol 118:538-543 (2000) RefNumber [4] RefCrossRef PUBMED; 16272259 RefAuthors Booij, J. C., Florijn, R. J., ten Brink, J. B., Loves, W., RefAuthors Meire, F., van Schooneveld, M. J., de Jong, P. T., Bergen, RefAuthors A. A. RefTitle Identification of mutations in the AIPL1, CRB1, GUCY2D, RefTitle RPE65, and RPGRIP1 genes in patients with juvenile RefTitle retinitis pigmentosa. RefLoc J Med Genet 42:e67 RefNumber [7] RefCrossRef PUBMED; 17724218 RefAuthors Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, RefAuthors E., Bianchi, P. E., Fossarello, M., Signorini, S., RefAuthors Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., RefAuthors Ciccodicola, A., Rinaldi, E., Auricchio, A., Banfi, S. RefTitle Clinical and molecular genetics of Leber's congenital RefTitle amaurosis: a multicenter study of Italian patients. RefLoc Invest Ophthalmol Vis Sci 48:4284-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 9875 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2375 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 768 Feature /change: R -> W Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 6; Patients: 6; Homozygotes: 0 // ID GUCY2D_M773L(1); standard; MUTATION; PK Accession K00590 Systematic name g.9890A>C, c.2317A>C, r.2317a>c, p.Met773Leu Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10766140 RefAuthors Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., RefAuthors Weleber, R. G., Fishman, G. A., Musarella, M. A., Hoyt, C. RefAuthors S., Heon, E., Levin, A., Jan, J., Lam, B., Carr, R. E., RefAuthors Franklin, A., Radha, S., Andorf, J. L., Sheffield, V. C., RefAuthors Stone, E. M. RefTitle Mutation analysis of 3 genes in patients with leber RefTitle congenital amaurosis. RefLoc Arch Ophthalmol 118:538-543 (2000) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 9890 Feature /change: a -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2390 Feature /codon: atg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 773 Feature /change: M -> L Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID GUCY2D_R838C(1); standard; MUTATION; Accession K00591 Systematic name g.10656C>T, c.2512C>T, r.2512c>u, p.Arg838Cys Description A point mutation in the exon 13 leading to an amino acid Description change Date 06-Feb-2004 (Rel. 2, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 11709018 RefAuthors Downes, S. M., Payne, A. M., Kelsell, R. E., Fitzke, F. RefAuthors W., Holder, G. E., Hunt, D. M., Moore, A. T., Bird, A. C. RefTitle Autosomal dominant cone-rod dystrophy with mutations in RefTitle the guanylate cyclase 2D gene encoding retinal guanylate RefTitle cyclase-1. RefLoc Arch Ophthalmol 119:1667-1673 (2001) RefNumber [2] RefCrossRef PUBMED; 9618177 RefAuthors Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault, RefAuthors I., Kaplan, J., Yang, R. B., Garbers, D. L., Bird, A. C., RefAuthors Moore, A. T., Hunt, D. M. RefTitle Mutations in the retinal guanylate cyclase (RETGC-1) gene RefTitle in dominant cone-rod dystrophy. RefLoc Hum Mol Genet 7:1179-1184 (1998) RefNumber [8] RefCrossRef PUBMED; 18487367 RefAuthors Kitiratschky, V. B., Wilke, R., Renner, A. B., Kellner, RefAuthors U., Vadala, M., Birch, D. G., Wissinger, B., Zrenner, E., RefAuthors Kohl, S. RefTitle Mutation analysis identifies GUCY2D as the major gene RefTitle responsible for autosomal dominant progressive cone RefTitle degeneration. RefLoc Invest Ophthalmol Vis Sci 49:5015-23 DB CrossRef OMIM; 600179.0006 DB CrossRef OMIM; 600179.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 10656 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2585 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 838 Feature /change: R -> C Diagnosis Cone-rod dystrophy Diagnosis Leber congenital amaurosis Occurrence Families: 9; Patients: 29; Homozygotes: 0 // ID GUCY2D_R838H(1); standard; MUTATION; Accession K00592 Systematic name g.10657G>A, c.2513G>A, r.2513g>a, p.Arg838His Description A point mutation in the exon 13 leading to an amino acid Description change Date 06-Feb-2004 (Rel. 2, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 11709018 RefAuthors Downes, S. M., Payne, A. M., Kelsell, R. E., Fitzke, F. RefAuthors W., Holder, G. E., Hunt, D. M., Moore, A. T., Bird, A. C. RefTitle Autosomal dominant cone-rod dystrophy with mutations in RefTitle the guanylate cyclase 2D gene encoding retinal guanylate RefTitle cyclase-1. RefLoc Arch Ophthalmol 119:1667-1673 (2001) RefNumber [7] RefCrossRef PUBMED; 18487367 RefAuthors Kitiratschky, V. B., Wilke, R., Renner, A. B., Kellner, RefAuthors U., Vadala, M., Birch, D. G., Wissinger, B., Zrenner, E., RefAuthors Kohl, S. RefTitle Mutation analysis identifies GUCY2D as the major gene RefTitle responsible for autosomal dominant progressive cone RefTitle degeneration. RefLoc Invest Ophthalmol Vis Sci 49:5015-23 DB CrossRef OMIM; 600179.0008 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 10657 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2586 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 838 Feature /change: R -> H Diagnosis Cone-rod dystrophy Diagnosis Leber congenital amaurosis Occurrence Families: 4; Patients: 6; Homozygotes: 0 // ID GUCY2D_R838S(1); standard; MUTATION; Accession K00593 Systematic name g.10656C>A, c.2512C>A, r.2512c>a, p.Arg838Ser Description A point mutation in the exon 13 leading to an amino acid Description change Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 10647719 RefAuthors Gregory-Evans, K., Kelsell, R. E., Gregory-Evans, C. Y., RefAuthors Downes, S. M., Fitzke, F. W., Holder, G. E., Simunovic, RefAuthors M., Mollon, J. D., Taylor, R., Hunt, D. M., Bird, A. C., RefAuthors Moore, A. T. RefTitle Autosomal dominant cone-rod retinal dystrophy (CORD6) from RefTitle heterozygous mutation of GUCY2D, which encodes retinal RefTitle guanylate cyclase. RefLoc Ophthalmology 107:55-61 (2000) DB CrossRef OMIM; 600179.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 10656 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2585 Feature /codon: cgc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 838 Feature /change: R -> S Diagnosis Cone-rod dystrophy Occurrence Families: 1; Patients: 15; Homozygotes: 0 // ID GUCY2D_E837D(1); standard; MUTATION; Accession K00594 Systematic name g.10655G>C, c.2511G>C, r.2511g>c, p.Glu837Asp Description A point mutation in the exon 13 leading to an amino acid Description change Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 10647719 RefAuthors Gregory-Evans, K., Kelsell, R. E., Gregory-Evans, C. Y., RefAuthors Downes, S. M., Fitzke, F. W., Holder, G. E., Simunovic, RefAuthors M., Mollon, J. D., Taylor, R., Hunt, D. M., Bird, A. C., RefAuthors Moore, A. T. RefTitle Autosomal dominant cone-rod retinal dystrophy (CORD6) from RefTitle heterozygous mutation of GUCY2D, which encodes retinal RefTitle guanylate cyclase. RefLoc Ophthalmology 107:55-61 (2000) RefNumber [2] RefCrossRef PUBMED; 9618177 RefAuthors Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault, RefAuthors I., Kaplan, J., Yang, R. B., Garbers, D. L., Bird, A. C., RefAuthors Moore, A. T., Hunt, D. M. RefTitle Mutations in the retinal guanylate cyclase (RETGC-1) gene RefTitle in dominant cone-rod dystrophy. RefLoc Hum Mol Genet 7:1179-1184 (1998) DB CrossRef OMIM; 600179.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 10655 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2584 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 837 Feature /change: E -> D Diagnosis Cone-rod dystrophy Occurrence Families: 2; Patients: 25; Homozygotes: 0 // ID GUCY2D_837(1); standard; MUTATION; Accession K00595 Systematic name g.10655G>C, c.2511G>C, r.2511g>c, p.Glu837Asp Description A point mutation in the exon 13 leading to an amino acid Description change Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9683616 RefAuthors Perrault, I., Rozet, J. M., Gerber, S., Kelsell, R. E., RefAuthors Souied, E., Cabot, A., Hunt, D. M., Munnich, A., Kaplan, RefAuthors J. RefTitle A retGC-1 mutation in autosomal dominant cone-rod RefTitle dystrophy. RefLoc Am J Hum Genet 63:651-654 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 10655 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2584 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 837 Feature /change: E -> D Diagnosis Cone-rod dystrophy Occurrence Families: 1; Patients: 6; Homozygotes: 0 // ID PHKG2_D215N(1); standard; MUTATION; PK Accession K00596 Systematic name g.8867G>A, c.643G>A, r.643g>a, p.Asp215Asn Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12930917 RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A., RefAuthors Chakraborty, P. K., Kilimann, M. W. RefTitle Severe phenotype of phosphorylase kinase-deficient liver RefTitle glycogenosis with mutations in the PHKG2 gene. RefLoc Pediatr Res 54:834-839 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 8867 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 736 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KPBH_HUMAN: 215 Feature /change: D -> N Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_W300X(1); standard; MUTATION; Accession K00597 Systematic name g.9287G>A, c.900G>A, r.900g>a, p.Trp300X Description A point mutation in the exon 9 leading to a premature stop Description codon Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12930917 RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A., RefAuthors Chakraborty, P. K., Kilimann, M. W. RefTitle Severe phenotype of phosphorylase kinase-deficient liver RefTitle glycogenosis with mutations in the PHKG2 gene. RefLoc Pediatr Res 54:834-839 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 9287 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 993 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KPBH_HUMAN: 300 Feature /change: W -> X Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-In the same patient with K00598: H89X // ID PHKG2_#H89X109(1); standard; MUTATION; PK Accession K00598 Systematic name g.3875delA, c.266delA, r.266dela, p.His89fsX20 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12930917 RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A., RefAuthors Chakraborty, P. K., Kilimann, M. W. RefTitle Severe phenotype of phosphorylase kinase-deficient liver RefTitle glycogenosis with mutations in the PHKG2 gene. RefLoc Pediatr Res 54:834-839 (2003) DB CrossRef OMIM; 172471.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: PHKG2_DNA: 3875 Feature /change: -a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M31606; GI:125536; HSPHK: 359 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KPBH_HUMAN: 89 Feature /change: H -> PSSPSSIPTS LLASCSWCLT X Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_E157K(1); standard; MUTATION; PK Accession K00599 Systematic name g.6069G>A, c.469G>A, r.469g>a, p.Glu157Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 06-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12930917 RefAuthors Burwinkel, B., Rootwelt, T., Kvittingen, E. A., RefAuthors Chakraborty, P. K., Kilimann, M. W. RefTitle Severe phenotype of phosphorylase kinase-deficient liver RefTitle glycogenosis with mutations in the PHKG2 gene. RefLoc Pediatr Res 54:834-839 (2003) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 6069 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 562 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KPBH_HUMAN: 157 Feature /change: E -> K Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_#L93X109(1); standard; MUTATION; PK Accession K00600 Systematic name g.4153delC, c.277delC, r.277delc, p.Leu93fsX16 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9384616 RefAuthors Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. RefTitle Liver glycogenosis due to phosphorylase kinase deficiency: RefTitle PHKG2 gene structure and mutations associated with RefTitle cirrhosis. RefLoc Hum Mol Genet 7:149-154 (1998) DB CrossRef OMIM; 172471.0005 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: PHKG2_DNA: 4153 Feature /change: -c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M31606; GI:125536; HSPHK: 370 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KPBH_HUMAN: 93 Feature /change: L -> SSIPTSLLAS CSWCLTX Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_R44X(1); standard; MUTATION; PK Accession K00601 Systematic name g.3739C>T, c.130C>T, r.130c>u, p.Arg44X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9384616 RefAuthors Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M. W. RefTitle Liver glycogenosis due to phosphorylase kinase deficiency: RefTitle PHKG2 gene structure and mutations associated with RefTitle cirrhosis. RefLoc Hum Mol Genet 7:149-154 (1998) DB CrossRef OMIM; 172471.0004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 3739 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 223 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KPBH_HUMAN: 44 Feature /change: R -> X Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_H145Y(1); standard; MUTATION; PK Accession K00602 Systematic name g.6033C>T, c.433C>T, r.433c>u, p.His145Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 9245685 RefAuthors van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann, RefAuthors R., Berger, R., van den Berg, I. E. RefTitle Autosomal recessive liver phosphorylase kinase deficiency RefTitle caused by a novel splice-site mutation in the gene RefTitle encoding the liver gamma subunit (PHKG2). RefLoc Biochem Biophys Res Commun 236:544-548 (1997) RefNumber [2] RefCrossRef PUBMED; 10905889 RefAuthors Burwinkel, B., Tanner, M. S., Kilimann, M. W. RefTitle Phosphorylase kinase deficient liver glycogenosis: RefTitle progression to cirrhosis in infancy associated with PHKG2 RefTitle mutations (H144Y and L225R) RefLoc J Med Genet 37:376-377 (2000) DB CrossRef OMIM; 172471.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 6033 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 526 Feature /codon: cat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KPBH_HUMAN: 145 Feature /change: H -> Y Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PHKG2_L226R(1); standard; MUTATION; PK Accession K00603 Systematic name g.8995T>G, c.677T>G, r.677u>g, p.Leu226Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 06-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9245685 RefAuthors van Beurden, E. A., de Graaf, M., Wendel, U., Gitzelmann, RefAuthors R., Berger, R., van den Berg, I. E. RefTitle Autosomal recessive liver phosphorylase kinase deficiency RefTitle caused by a novel splice-site mutation in the gene RefTitle encoding the liver gamma subunit (PHKG2). RefLoc Biochem Biophys Res Commun 236:544-548 (1997) RefNumber [2] RefCrossRef PUBMED; 10905889 RefAuthors Burwinkel, B., Tanner, M. S., Kilimann, M. W. RefTitle Phosphorylase kinase deficient liver glycogenosis: RefTitle progression to cirrhosis in infancy associated with PHKG2 RefTitle mutations (H144Y and L225R) RefLoc J Med Genet 37:376-377 (2000) DB CrossRef OMIM; 172471.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 8995 Feature /change: t -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 770 Feature /codon: ctc -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KPBH_HUMAN: 226 Feature /change: L -> R Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID INSR_R1027X(1); standard; MUTATION; PK Accession K00604 Systematic name g.169430C>T, c.3079C>T, r.3079c>u, p.Arg1027X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK domain Date 10-Feb-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 2365819 RefAuthors Kadowaki, T., Kadowaki, H., Rechler, M. M., Serrano-Rios, RefAuthors M., Roth, J., Gorden, P., Taylor, S. I. RefTitle Five mutant alleles of the insulin receptor gene in RefTitle patients with genetic forms of insulin resistance. RefLoc J Clin Invest 86:254-264 (1990) DB CrossRef OMIM; 147670.0013 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: INSR_DNA: 169430 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M10051; GI:33112647; M10051: 3217 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: INSR_HUMAN: 1027 Feature /change: R -> X Feature /domain: PK Diagnosis Insulin resistance Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID JAK3_#K733X794(1); standard; MUTATION; PK1 Accession K00605 Systematic name g.14140delG, c.2199delG, r.2199delg, p.Lys734fsX21 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the PK1 domain Date 10-Feb-2004 (Rel. 2, Created) Date 10-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 7659163 RefAuthors Macchi, P., Villa, A., Giliani, S., Sacco, M. G., RefAuthors Frattini, A., Porta, F., Ugazio, A. G., Johnston, J. A., RefAuthors Candotti, F., O'Shea, J. J. RefTitle Mutations of jak-3 gene in patients with autosomal severe RefTitle combined immune deficiency (SCID). RefLoc Nature 377:65-68 (1995) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: JAK3_DNA: 14140 Feature /change: -g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U09607; GI:1708581; U09607: 2294 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 733 Feature /change: K -> KNSNFMRTGS SCRPPSGQSW PCX Feature /domain: PK1 Diagnosis T-negative/B-positive type severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_S904C(1); standard; MUTATION; PK Accession K00606 Systematic name g.44121C>G, c.2711C>G, r.2711c>g, p.Ser904Cys Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11788682 RefAuthors Menko, F. H., van der Luijt, R. B., de Valk, I. A., RefAuthors Toorians, A. W., Sepers, J. M., van Diest, P. J., Lips, C. RefAuthors J. RefTitle Atypical MEN type 2B associated with two germline RET RefTitle mutations on the same allele not involving codon 918. RefLoc J Clin Endocrinol Metab 87:393-397 (2002) DB CrossRef OMIM; 164761.0043 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44121 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2906 Feature /codon: tcc -> tgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 904 Feature /change: S -> C Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 4; Homozygotes: 0 Comment -!-4 members of a family holds also a V804M mutation in the Comment -!-same allele // ID STK11_#V66X152(1); standard; MUTATION; PK Accession K00607 Systematic name g.1198delG, c.198delG, r.198delg, p.Leu67fsX28 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1198 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 536 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 66 Feature /change: V -> VWTRRRCAGG PSRSSRRRSC EGSPTGRPTX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#D277X283(1); standard; MUTATION; PK Accession K00608 Systematic name g.15396delC, c.831delC, r.831delc, p.Cys278fsX8 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 9428765 RefAuthors Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., RefAuthors Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, RefAuthors M., Hoglund, P., Jarvinen, H., Kristo, P., Pelin, K., RefAuthors Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., RefAuthors Olschwang, S., Olsen, A. S., Stratton, M. R., de la RefAuthors Chapelle, A., Aaltonen, L. A. RefTitle A serine/threonine kinase gene defective in peutz-jeghers RefTitle syndrome. RefLoc Nature 391:184-187 (1998) DB CrossRef OMIM; 602216.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15396 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1169 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 277 Feature /change: D -> DVAPRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@V66X162(1); standard; MUTATION; PK Accession K00609 Systematic name g.1197dupT, c.197dupT, r.197dupu, p.Leu67fsX95 Description A frame shift duplication mutation in the exon 1 leading to Description a premature stop codon in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10217080 RefAuthors Westerman, A. M., Entius, M. M., de Baar, E., Boor, P. P., RefAuthors Koole, R., van Velthuysen, M. L., Offerhaus, G. J., RefAuthors Lindhout, D., de Rooij, F. W., Wilson, J. H. RefTitle Peutz-jeghers syndrome: 78-year follow-up of the original RefTitle family. RefLoc Lancet 353:1211-1215 (1999) DB CrossRef OMIM; 602216.0014 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 1198 Feature /change: +t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 536 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 66 Feature /change: V -> Feature /change: VAGLGDAVQE GRQDPQEEEV AKDPQRGGQR EEGNSTTEEV Feature /change: TAQKCHPAGG CVIQRREAEN VYGDGVLRVW HAGNAGQRAG Feature /change: EAFPSVPGPR VLLSADX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#P217X286(1); standard; MUTATION; PK Accession K00610 Systematic name g.14720delC, c.650delC, r.650delc, p.Pro217fsX69 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 11-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10362809 RefAuthors Su, G. H., Hruban, R. H., Bansal, R. K., Bova, G. S., RefAuthors Tang, D. J., Shekher, M. C., Westerman, A. M., Entius, M. RefAuthors M., Goggins, M., Yeo, C. J., Kern, S. E. RefTitle Germline and somatic mutations of the STK11/LKB1 peutz- RefTitle jeghers gene in pancreatic and biliary cancers. RefLoc Am J Pathol 154:1835-1840 (1999) DB CrossRef OMIM; 602216.0016 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14720 Feature /change: -c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 988 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 217 Feature /change: P -> Feature /change: RLSSRPRLPT AWTPSPASRW TSGRLGSPST TSPRVCTPSK Feature /change: GTTSTSCLRT SGRGATPSRA TVAPRSLTCX Feature /domain: PK Diagnosis Pancreatic cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_W239C(1); standard; MUTATION; PK Accession K00611 Systematic name g.14787G>C, c.717G>C, r.717g>c, p.Trp239Cys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 12372054 RefAuthors Scott, R. J., Crooks, R., Meldrum, C. J., Thomas, L., RefAuthors Smith, C. J., Mowat, D., McPhillips, M., Spigelman, A. D. RefTitle Mutation analysis of the STK11/LKB1 gene and clinical RefTitle characteristics of an australian series of peutz-jeghers RefTitle syndrome patients. RefLoc Clin Genet 62:282-287 (2002) RefNumber [3] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 DB CrossRef OMIM; 602216.0021 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14787 Feature /change: g -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1055 Feature /codon: tgg -> tgc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 239 Feature /change: W -> C Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_I398N(1); standard; MUTATION; PK Accession K00612 Systematic name g.4706T>A, c.1193T>A, r.1193u>a, p.Ile398Asn Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 11-Feb-2004 (Rel. 2, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11170071 RefAuthors Kjeldsen, A. D., Brusgaard, K., Poulsen, L., Kruse, T., RefAuthors Rasmussen, K., Green, A., Vase, P. RefTitle Mutations in the ALK-1 gene and the phenotype of RefTitle hereditary hemorrhagic telangiectasia in two large danish RefTitle families. RefLoc Am J Med Genet 98:298-302 (2001) RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 DB CrossRef OMIM; 601284.0006 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4706 Feature /change: t -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1475 Feature /codon: atc -> aac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 398 Feature /change: I -> N Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RPS6KA3_#A136X147(1); standard; MUTATION; PK1 Accession K00613 Systematic name g.73833delC, c.407delC, r.407delc, p.Ala136fsX27 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK1 domain Date 13-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8955270 RefAuthors Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., RefAuthors Zackai, E., Young, I., Mandel, J. L., Sassone-Corsi, P., RefAuthors Hanauer, A. RefTitle Mutations in the kinase rsk-2 associated with coffin-lowry RefTitle syndrome. RefLoc Nature 384:567-570 (1996) DB CrossRef OMIM; 300075.0001 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73833 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 407 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 136 Feature /change: A -> VFKLKGSCIL FWIFSGEEIC LHAYPKRX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#R151X175(1); standard; MUTATION; PK1 Accession K00614 Systematic name g.73877delA, c.451delA, r.451dela, p.Arg151fsX12 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK1 domain Date 13-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 10094187 RefAuthors Abidi, F., Jacquot, S., Lassiter, C., Trivier, E., RefAuthors Hanauer, A., Schwartz, C. E. RefTitle Novel mutations in rsk-2, the gene for coffin-lowry RefTitle syndrome (CLS). RefLoc Eur J Hum Genet 7:20-26 (1999) DB CrossRef OMIM; 300075.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73877 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 451 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 151 Feature /change: R -> GEEICLHAYP KRX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_P954S(1); standard; MUTATION; PK Accession K00616 Systematic name g.31635C>T, c.2860C>T, r.2860c>u, p.Pro954Ser Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 13-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11807987 RefAuthors Walter, J. W., North, P. E., Waner, M., Mizeracki, A., RefAuthors Blei, F., Walker, J. W., Reinisch, J. F., Marchuk, D. A. RefTitle Somatic mutation of vascular endothelial growth factor RefTitle receptors in juvenile hemangioma. RefLoc Genes Chromosomes Cancer 33:295-303 (2002) DB CrossRef OMIM; 136352.0007 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 31635 Feature /change: c -> t Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2881 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 954 Feature /change: P -> S Feature /domain: PK Diagnosis Juvenile hemangioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_G189E(1); standard; MUTATION; PK Accession K00617 Systematic name g.8790G>A, c.566G>A, r.566g>a, p.Gly189Glu Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 13-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8896567 RefAuthors Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., RefAuthors Kilimann, M. W. RefTitle Mutations in the testis/liver isoform of the phosphorylase RefTitle kinase gamma subunit (PHKG2) cause autosomal liver RefTitle glycogenosis in the gsd rat and in humans. RefLoc Nat Genet 14:337-340 (1996) DB CrossRef OMIM; 172471.0002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 8790 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 659 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KPBH_HUMAN: 189 Feature /change: G -> E Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_V106E(1); standard; MUTATION; PK Accession K00618 Systematic name g.4193T>A, c.317T>A, r.317u>a, p.Val106Glu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 13-Feb-2004 (Rel. 2, Created) Date 13-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 8896567 RefAuthors Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O., RefAuthors Kilimann, M. W. RefTitle Mutations in the testis/liver isoform of the phosphorylase RefTitle kinase gamma subunit (PHKG2) cause autosomal liver RefTitle glycogenosis in the gsd rat and in humans. RefLoc Nat Genet 14:337-340 (1996) DB CrossRef OMIM; 172471.0003 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PHKG2_DNA: 4193 Feature /change: t -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M31606; GI:125536; HSPHK: 410 Feature /codon: gtg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KPBH_HUMAN: 106 Feature /change: V -> E Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID LTK_E763K(1); standard; MUTATION; PK Accession K00619 Systematic name g.10479G>A, c.2287G>A, r.2287g>a, p.Glu763Lys Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 18-Feb-2004 (Rel. 2, Created) Date 18-Feb-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14695357 RefAuthors Li, N., Nakamura, K., Jiang, Y., Tsurui, H., Matsuoka, S., RefAuthors Abe, M., Ohtsuji, M., Nishimura, H., Kato, K., Kawai, T., RefAuthors Atsumi, T., Koike, T., Shirai, T., Ueno, H., Hirose, S. RefTitle Gain-of-function polymorphism in mouse and human ltk: RefTitle implications for the pathogenesis of systemic lupus RefTitle erythematosus. RefLoc Hum Mol Genet 13:171-179 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: LTK_DNA: 10479 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D16105; GI:440855; D16105 : 2384 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: HSLTKLP2: 763 Feature /change: E -> K Feature /domain: PK Diagnosis Systemic lupus erythematosus Occurrence Families: 11; Patients: 11; Homozygotes: 0 Comment -!-Polimorphism, which frequency is significantly higher in Comment -!-SLE patients than in controlThe mutant allele Comment -!-constitutively activates the PI3K pthway // ID FGFR1_P745S(1); standard; MUTATION; PK Accession K00620 Systematic name g.55642C>T, c.2233C>T, r.2233c>u, p.Pro745Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 01-Apr-2004 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 15001591 RefAuthors Sato, N., Katsumata, N., Kagami, M., Hasegawa, T., Hori, RefAuthors N., Kawakita, S., Minowada, S., Shimotsuka, A., Shishiba, RefAuthors Y., Yokozawa, M., Yasuda, T., Nagasaki, K., Hasegawa, D., RefAuthors Hasegawa, Y., Tachibana, K., Naiki, Y., Horikawa, R., RefAuthors Tanaka, T., Ogata, T. RefTitle Clinical assessment and mutation analysis of kallmann RefTitle syndrome 1 (KAL1) and fibroblast growth factor receptor RefTitle 1 (FGFR1, or KAL2) in five families and 18 sporadic RefTitle patients. RefLoc J Clin Endocrinol Metab 89:1079-1088 (2004) RefNumber [4] RefCrossRef PUBMED; 15845591 RefAuthors Sato, N., Hasegawa, T., Hori, N., Fukami, M., Yoshimura, RefAuthors Y., Ogata, T. RefTitle Gonadotrophin therapy in Kallmann syndrome caused by RefTitle heterozygous mutations of the gene for fibroblast growth RefTitle factor receptor 1: report of three families: case report. RefLoc Hum Reprod 20:2173-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55642 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2959 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 745 Feature /change: P -> S Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Diagnosis Occurrence Families: 3; Patients: 5; Homozygotes: 0 // ID JAK3_E698X(1); standard; MUTATION; PK1 Accession K00621 Systematic name g.14033G>T, c.2092G>T, r.2092g>u, p.Glu698X Description A point mutation in the exon 16 leading to a premature stop Description codon in the PK1 domain Date 01-Apr-2004 (Rel. 2, Created) Date 01-Apr-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11668624 RefAuthors Feldser, D. M., Kern, S. E. RefTitle Oncogenic levels of mitogen-activated protein RefTitle kinase (MAPK) signaling of the dinucleotide KRAS2 RefTitle mutations G12F and GG12-13VC. RefLoc Hum Mutat 18:357 (2001) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: JAK3_DNA: 14033 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U09607; GI:1708581; U09607: 2187 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: JAK3_HUMAN: 698 Feature /change: E -> X Feature /domain: PK1 Diagnosis T-negative/B-positive type severe combined immunodeficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_D835F(1); standard; MUTATION; PK Accession K00622 Systematic name g.53109G>T, c.2503G>T, r.2503g>u, p.Asp835Tyr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Apr-2004 (Rel. 2, Created) Date 05-Apr-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14737077 RefAuthors Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. RefAuthors L., Dunn, P., Kuo, M. C. RefTitle Acquisition of FLT3 or N-ras mutations is frequently RefTitle associated with progression of myelodysplastic syndrome to RefTitle acute myeloid leukemia. RefLoc Leukemia 18:466-475 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53109 Feature /change: g -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2560 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 835 Feature /change: D -> Y Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_I836S(1); standard; MUTATION; PK Accession K00623 Systematic name g.53112A>T, c.2506A>T, r.2506a>u, p.Ile836Phe Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 05-Apr-2004 (Rel. 2, Created) Date 05-Apr-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14737077 RefAuthors Shih, L. Y., Huang, C. F., Wang, P. N., Wu, J. H., Lin, T. RefAuthors L., Dunn, P., Kuo, M. C. RefTitle Acquisition of FLT3 or N-ras mutations is frequently RefTitle associated with progression of myelodysplastic syndrome to RefTitle acute myeloid leukemia. RefLoc Leukemia 18:466-475 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53112 Feature /change: a -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2563 Feature /codon: atc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 836 Feature /change: I -> F Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y246X(1); standard; MUTATION; PK Accession K00624 Systematic name g.15303C>G, c.738C>G, r.738c>g, p.Tyr246X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 30-Jun-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15200509 RefAuthors Hernan, I., Roig, I., Martin, B., Gamundi, M. J., Martinez- RefAuthors Gimeno, M., Carballo, M. RefTitle De novo germline mutation in the serine-threonine kinase RefTitle STK11/LKB1 gene associated with peutz-jeghers syndrome. RefLoc Clin Genet 66:58-62 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15303 Feature /change: c -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1076 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 246 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Protein struct LOH in the hamartomatous polyps // ID FLT3_N841Y(1); standard; MUTATION; PK Accession K00625 Systematic name g.53127A>T, c.2521A>T, r.2521a>u, p.Asn841Tyr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 30-Jun-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15178581 RefAuthors Jiang, J., Paez, J. G., Lee, J. C., Bo, R., Stone, R. M., RefAuthors DeAngelo, D. J., Galinsky, I., Wolpin, B. M., Jonasova, RefAuthors A., Herman, P., Fox, E. A., Boggon, T. J., Eck, M. J., RefAuthors Weisberg, E., Griffin, J. D., Gilliland, D. G., Meyerson, RefAuthors M., Sellers, W. R. RefTitle Identification and characterization of a novel activating RefTitle mutation of the FLT3 tyrosine kinase in AML. RefLoc Blood : () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53127 Feature /change: a -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2578 Feature /codon: aac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 841 Feature /change: N -> Y Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_N841I(1); standard; MUTATION; PK Accession K00626 Systematic name g.53128A>T, c.2522A>T, r.2522a>u, p.Asn841Ile Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 30-Jun-2004 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15178581 RefAuthors Jiang, J., Paez, J. G., Lee, J. C., Bo, R., Stone, R. M., RefAuthors DeAngelo, D. J., Galinsky, I., Wolpin, B. M., Jonasova, RefAuthors A., Herman, P., Fox, E. A., Boggon, T. J., Eck, M. J., RefAuthors Weisberg, E., Griffin, J. D., Gilliland, D. G., Meyerson, RefAuthors M., Sellers, W. R. RefTitle Identification and characterization of a novel activating RefTitle mutation of the FLT3 tyrosine kinase in AML. RefLoc Blood : () Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53128 Feature /change: a -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2579 Feature /codon: aac -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 841 Feature /change: N -> I Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-N841I mutation confers constitutive activity to the Comment -!-receptor // ID BMPR2_R213X(1); standard; MUTATION; PK Accession K00627 Systematic name g.142363C>T, c.637C>T, r.637c>u, p.Arg213X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 15146475 RefAuthors Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., RefAuthors Tomoike, H., Morisaki, T. RefTitle BMPR2 mutations found in japanese patients with familial RefTitle and sporadic primary pulmonary hypertension. RefLoc Hum Mutat 23:632 (2004) RefNumber [8] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142363 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1018 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 213 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 4; Patients: 5; Homozygotes: 0 // ID BMPR2_Q403X(1); standard; MUTATION; PK Accession K00628 Systematic name g.156189C>T, c.1207C>T, r.1207c>u, p.Gln403X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 15146475 RefAuthors Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., RefAuthors Tomoike, H., Morisaki, T. RefTitle BMPR2 mutations found in japanese patients with familial RefTitle and sporadic primary pulmonary hypertension. RefLoc Hum Mutat 23:632 (2004) RefNumber [2] RefCrossRef PUBMED; 12139571 RefAuthors Uehara, R., Suzuki, H., Kurokawa, N., Urashima, T., RefAuthors Fujiwara, M., Matoba, M., Eto, Y. RefTitle Novel nonsense mutation of the BMPR-II gene in a japanese RefTitle patient with familial primary pulmonary hypertension. RefLoc Pediatr Int 44:433-435 (2002) RefNumber [3] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [5] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156189 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1588 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 403 Feature /change: Q -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Detected in a familiar case // ID BMPR2_C420Y(1); standard; MUTATION; PK Accession K00629 Systematic name g.156241G>A, c.1259G>A, r.1259g>a, p.Cys420Tyr Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 15146475 RefAuthors Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., RefAuthors Tomoike, H., Morisaki, T. RefTitle BMPR2 mutations found in japanese patients with familial RefTitle and sporadic primary pulmonary hypertension. RefLoc Hum Mutat 23:632 (2004) RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156241 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1640 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 420 Feature /change: C -> Y Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Detected in a sporadic case // ID BMPR2_#R459X469(1); standard; MUTATION; PK Accession K00630 Systematic name g.165935delA, c.1375delA, r.1375dela, p.Arg459fsX14 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 30-Jun-2004 (Rel. 2, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 15146475 RefAuthors Morisaki, H., Nakanishi, N., Kyotani, S., Takashima, A., RefAuthors Tomoike, H., Morisaki, T. RefTitle BMPR2 mutations found in japanese patients with familial RefTitle and sporadic primary pulmonary hypertension. RefLoc Hum Mutat 23:632 (2004) RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 165935 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1756 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 459 Feature /change: R -> DPSSQKPGKK IAWQX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Detected in a sporadic case // ID FGFR1_G97D(1); standard; MUTATION; IGC21 Accession K00631 Systematic name g.39869G>A, c.290G>A, r.290g>a, p.Gly97Asp Description A point mutation in the exon 3 leading to an amino acid Description change in the IGC21 domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 39869 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 1016 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 97 Feature /change: G -> D Feature /domain: IGC21 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_Y99C(1); standard; MUTATION; IGC21 Accession K00632 Systematic name g.39875A>G, c.296A>G, r.296a>g, p.Tyr99Cys Description A point mutation in the exon 3 leading to an amino acid Description change in the IGC21 domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 39875 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 1022 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 99 Feature /change: Y -> C Feature /domain: IGC21 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_A167S(1); standard; MUTATION; IGC22 Accession K00633 Systematic name g.41576G>T, c.499G>T, r.499g>u, p.Ala167Ser Description A point mutation in the exon 5 leading to an amino acid Description change in the IGC22 domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 41576 Feature /change: g -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 1225 Feature /codon: gca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 167 Feature /change: A -> S Feature /domain: IGC22 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_C277Y(1); standard; MUTATION; IGC23 Accession K00634 Systematic name g.45004G>A, c.830G>A, r.830g>a, p.Cys277Tyr Description A point mutation in the exon 7 leading to an amino acid Description change in the IGC23 domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 45004 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 1556 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 277 Feature /change: C -> Y Feature /domain: IGC23 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_G70E(1); standard; MUTATION; IGC21 Accession K00635 Systematic name g.39788G>A, c.209G>A, r.209g>a, p.Gly70Glu Description A point mutation in the exon 3 leading to an amino acid Description change in the IGC21 domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 39788 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 935 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 70 Feature /change: G -> E Feature /domain: IGC21 Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-donor splice site mutation // ID FGFR1_M667R(1); standard; MUTATION; PK Accession K00636 Systematic name g.55012T>G, c.2000T>G, r.2000u>g, p.Met667Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55012 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2726 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 667 Feature /change: M -> R Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_M771T(1); standard; MUTATION; Accession K00637 Systematic name g.55834T>C, c.2312T>C, r.2312u>c, p.Met771Thr Description A point mutation in the exon 18 leading to an amino acid Description change Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55834 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 3038 Feature /codon: atg -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 771 Feature /change: M -> T Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_@V102X103(1); standard; MUTATION; IGC21 Accession K00638 Systematic name g.39882dupC, c.303dupC, r.303dupc, p.Val102fsX8 Description A frame shift duplication mutation in the exon 3 leading to Description a premature stop codon in the IGC21 domain Date 01-Nov-2005 (Rel. 2, Created) Date 01-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: FGFR1_DNA: 39883 Feature /change: +c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X66945; GI:120046; X66945: 1030 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 102 Feature /change: V -> RNQQPLGQX Feature /domain: IGC21 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E14K(1); standard; MUTATION; Accession K00639 Systematic name g.1040G>A, c.40G>A, r.40g>a, p.Glu14Lys Description A point mutation in the exon 1 leading to an amino acid Description change Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1040 Feature /change: g -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 378 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 14 Feature /change: E -> K Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y49D(1); standard; MUTATION; PK Accession K00640 Systematic name g.1145T>G, c.145T>G, r.145u>g, p.Tyr49Asp Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1145 Feature /change: t -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 483 Feature /codon: tac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 49 Feature /change: Y -> D Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_P314H(1); standard; MUTATION; Accession K00641 Systematic name g.17092C>A, c.941C>A, r.941c>a, p.Pro314His Description A point mutation in the exon 8 leading to an amino acid Description change Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17092 Feature /change: c -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1279 Feature /codon: cct -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 314 Feature /change: P -> H Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_P324L(1); standard; MUTATION; Accession K00642 Systematic name g.17122C>T, c.971C>T, r.971c>u, p.Pro324Leu Description A point mutation in the exon 8 leading to an amino acid Description change Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17122 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1309 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 324 Feature /change: P -> L Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_F354L(1); standard; MUTATION; Accession K00643 Systematic name g.17213C>G, c.1062C>G, r.1062c>g, p.Phe354Leu Description A point mutation in the exon 8 leading to an amino acid Description change Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17213 Feature /change: c -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1400 Feature /codon: ttc -> ttg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 354 Feature /change: F -> L Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_T367M(1); standard; MUTATION; Accession K00644 Systematic name g.17251C>T, c.1100C>T, r.1100c>u, p.Thr367Met Description A point mutation in the exon 8 leading to an amino acid Description change Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17251 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1438 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 367 Feature /change: T -> M Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y36X(1); standard; MUTATION; Accession K00645 Systematic name g.1108C>A, c.108C>A, r.108c>a, p.Tyr36X Description A point mutation in the exon 1 leading to a premature stop Description codon Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1108 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 446 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 36 Feature /change: Y -> X Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Q37X(1); standard; MUTATION; Accession K00646 Systematic name g.1109C>T, c.109C>T, r.109c>u, p.Gln37X Description A point mutation in the exon 1 leading to a premature stop Description codon Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1109 Feature /change: c -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 447 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 37 Feature /change: Q -> X Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_K44X(1); standard; MUTATION; Accession K00647 Systematic name g.1130A>T, c.130A>T, r.130a>u, p.Lys44X Description A point mutation in the exon 1 leading to a premature stop Description codon Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1130 Feature /change: a -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 468 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 44 Feature /change: K -> X Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E65X(1); standard; MUTATION; PK Accession K00648 Systematic name g.1193G>T, c.193G>T, r.193g>u, p.Glu65X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1193 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 531 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 65 Feature /change: E -> X Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_C210X(1); standard; MUTATION; PK Accession K00649 Systematic name g.14700C>A, c.630C>A, r.630c>a, p.Cys210X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14700 Feature /change: c -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 968 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 210 Feature /change: C -> X Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E223X(1); standard; MUTATION; PK Accession K00650 Systematic name g.14737G>T, c.667G>T, r.667g>u, p.Glu223X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14737 Feature /change: g -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1005 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 223 Feature /change: E -> X Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_W332X(1); standard; MUTATION; Accession K00651 Systematic name g.17147G>A, c.996G>A, r.996g>a, p.Trp332X Description A point mutation in the exon 8 leading to a premature stop Description codon Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17147 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1334 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 332 Feature /change: W -> X Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@D53X162(2); standard; MUTATION; PK Accession K00652 Systematic name g.1156dupG, c.156dupG, r.156dupg, p.Asp53fsX109 Description A frame shift duplication mutation in the exon 1 leading to Description a premature stop codon in the PK domain Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 1157 Feature /change: +g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 495 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 53 Feature /change: D -> Feature /change: GPAGGRLLRQ GEGGAGLGDA VQEGRQDPQE EEVAKDPQRG Feature /change: GQREEGNSTT EEVTAQKCHP AGGCVIQRRE AENVYGDGVL Feature /change: RVWHAGNAGQ RAGEAFPSVP GPRVLLSADX Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#E57X63(1); standard; MUTATION; PK Accession K00653 Systematic name g.1169delG, c.169delG, r.169delg, p.Glu57fsX6 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1169 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 507 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 57 Feature /change: E -> KALTARX Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#K312X335(1); standard; MUTATION; Accession K00654 Systematic name g.17087delA, c.936delA, r.936dela, p.Lys312fsX23 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 17087 Feature /change: -a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1274 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 312 Feature /change: K -> NILRLKHQCP SHRAQTPRTG GAAX Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#P319X335(1); standard; MUTATION; Accession K00655 Systematic name g.17108delA, c.957delA, r.957dela, p.Val320fsX15 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon Date 18-Nov-2005 (Rel. 2, Created) Date 18-Nov-2005 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 17108 Feature /change: -a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1295 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 319 Feature /change: P -> PCPSHRAQTP RTGGAAX Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_R86X(1); standard; MUTATION; PK Accession K00656 Systematic name g.1256C>T, c.256C>T, r.256c>u, p.Arg86X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1256 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 594 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 86 Feature /change: R -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#R39X158(1); standard; MUTATION; Accession K00657 Systematic name g.1115delC, c.115delC, r.115delc, p.Arg39fsX11 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1115 Feature /change: -c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 453 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 39 Feature /change: R -> AASGPSSSAS TX Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#R42X46(1); standard; MUTATION; Accession K00658 Systematic name g.1125delG, c.125delG, r.125delg, p.Ala43fsX7 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1125 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 463 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 42 Feature /change: R -> RPSSSASTX Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@A43X162(1); standard; MUTATION; Accession K00659 Systematic name g.1127G>G, c.127G>G, r.127g>g, p.Ala43Ala Description A point mutation in the exon 1 leading to an amino acid Description change Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1127 Feature /change: g -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 465 Feature /codon: gcc -> gcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 43 Feature /change: A -> A Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@D53X162(3); standard; MUTATION; PK Accession K00660 Systematic name g.1157G>G, c.157G>G, r.157g>g, p.Asp53Asp Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1157 Feature /change: g -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 495 Feature /codon: gac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 53 Feature /change: D -> D Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@Y60X(1); standard; MUTATION; PK Accession K00661 Systematic name g.1179A>A, c.179A>A, r.179a>a, p.Tyr60Tyr Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1179 Feature /change: a -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 517 Feature /codon: tac -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 60 Feature /change: Y -> Y Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#V66-5(1); standard; MUTATION; PK Accession K00662 Systematic name g.1196delG, c.196delG, r.196delg, p.Val66fsX29 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1196 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 534 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 66 Feature /change: V -> CWTRRRCAGG PSRSSRRRSC EGSPTGRPTX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Q100X(1); standard; MUTATION; PK Accession K00663 Systematic name g.12511C>T, c.298C>T, r.298c>u, p.Gln100X Description A point mutation in the exon 2 leading to a premature stop Description codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12511 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 636 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 100 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#V116X155(1); standard; MUTATION; PK Accession K00664 Systematic name g.12560T>A, c.347T>A, r.347u>a, p.Val116Glu Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12560 Feature /change: t -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 685 Feature /codon: gtg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 116 Feature /change: V -> E Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@L117X162(1); standard; MUTATION; PK Accession K00665 Systematic name g.12564A>A, c.351A>A, r.351a>a, p.Leu117Leu Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12564 Feature /change: a -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 689 Feature /codon: tta -> tta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 117 Feature /change: L -> L Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E138X(1); standard; MUTATION; PK Accession K00666 Systematic name g.13448G>T, c.412G>T, r.412g>u, p.Glu138X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 13448 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 750 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 138 Feature /change: E -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_C158X(1); standard; MUTATION; PK Accession K00667 Systematic name g.14469delT, c.474delT, r.474delu, p.Gln159fsX1 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [3] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14469 Feature /change: -t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 812 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 158 Feature /change: C -> CSX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_L167R(1); standard; MUTATION; PK Accession K00668 Systematic name g.14495T>G, c.500T>G, r.500u>g, p.Leu167Arg Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14495 Feature /change: t -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 838 Feature /codon: ctg -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 167 Feature /change: L -> R Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@S169X265(1); standard; MUTATION; PK Accession K00669 Systematic name g.14501G>G, c.506G>G, r.506g>g, p.Ser169Ser Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14501 Feature /change: g -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 844 Feature /codon: agc -> agc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 169 Feature /change: S -> S Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@I172X265(1); standard; MUTATION; PK Accession K00670 Systematic name g.14511T>T, c.516T>T, r.516u>u, p.Ile172Ile Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14511 Feature /change: t -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 854 Feature /codon: att -> att; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 172 Feature /change: I -> I Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@P222X287(1); standard; MUTATION; PK Accession K00671 Systematic name g.14733dupG, c.663dupG, r.663dupg, p.Pro222fsX43 Description A frame shift duplication mutation in the exon 5 leading to Description a premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 14734 Feature /change: +g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1002 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 222 Feature /change: P -> Feature /change: ARDCQRPGHL LRLQGGHLVG WGHPLQHHHG SVPLRRGQHL QVVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#S240X285(1); standard; MUTATION; PK Accession K00672 Systematic name g.14788delT, c.718delT, r.718delu, p.Ser240fsX46 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14788 Feature /change: -t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1056 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 240 Feature /change: S -> Feature /change: RLGSPSTTSP RVCTPSKGTT STSCLRTSGR GATPSRATVA Feature /change: PRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_S240X(1); standard; MUTATION; PK Accession K00673 Systematic name g.14789C>A, c.719C>A, r.719c>a, p.Ser240X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 12-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [2] RefCrossRef PUBMED; 18600394 RefAuthors Hosogi, H., Nagayama, S., Kawamura, J., Koshiba, Y., RefAuthors Nomura, A., Itami, A., Okabe, H., Satoh, S., Watanabe, G., RefAuthors Sakai, Y. RefTitle Molecular insights into Peutz-Jeghers syndrome: two RefTitle probands with a germline mutation of LKB1. RefLoc J Gastroenterol 43:492-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14789 Feature /change: c -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1057 Feature /codon: tcg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 240 Feature /change: S -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_#I260X286(1); standard; MUTATION; PK Accession K00674 Systematic name g.15344delT, c.779delT, r.779delu, p.Ile260fsX26 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [3] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15344 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1117 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 260 Feature /change: I -> TTSCLRTSGR GATPSRATVA PRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 6; Patients: 7; Homozygotes: 0 // ID STK11_#F264X285(1); standard; MUTATION; PK Accession K00675 Systematic name g.15355delT, c.790delT, r.790delu, p.Phe264fsX22 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) RefNumber [2] RefCrossRef PUBMED; 17010210 RefAuthors Thakur, N., Reddy, D. N., Rao, G. V., Mohankrishna, P., RefAuthors Singh, L., Chandak, G. R. RefTitle A novel mutation in STK11 gene is associated with Peutz- RefTitle Jeghers Syndrome in Indian patients. RefLoc BMC Med Genet 7:73 RefNumber [3] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15355 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1128 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 264 Feature /change: F -> LRTSGRGATP SRATVAPRSL TCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID STK11_@E265X284(1); standard; MUTATION; PK Accession K00676 Systematic name g.15357_15358insA, c.792_793insA, r.792_793insa, Systematic name p.Glu265fsX19 Description A frame shift insertion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: STK11_DNA: 15358 Feature /change: +a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1131 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 265 Feature /change: E -> REHREGELRH PGRLWPPALX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@P281X284(1); standard; MUTATION; PK Accession K00677 Systematic name g.15407C>C, c.842C>C, r.842c>c, p.Pro281Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15407 Feature /change: c -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1180 Feature /codon: ccg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 281 Feature /change: P -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_#I303-3(2); standard; MUTATION; PK Accession K00678 Systematic name g.16080delA, c.907delA, r.907dela, p.Ile303fsX32 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16080 Feature /change: -a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1245 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 303 Feature /change: I -> SGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_R304P(1); standard; MUTATION; PK Accession K00679 Systematic name g.16084G>C, c.911G>C, r.911g>c, p.Arg304Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 16084 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1249 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 304 Feature /change: R -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_#S307X335(1); standard; MUTATION; PK Accession K00680 Systematic name g.17072delC, c.921delC, r.921delc, p.Trp308fsX27 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 30-May-2006 (Rel. 2, Created) Date 30-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16287113 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., RefAuthors Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, RefAuthors E., Santer, R., Propping, P., Friedl, W. RefTitle High proportion of large genomic STK11 deletions in peutz- RefTitle jeghers syndrome. RefLoc Hum Mutat:513-519 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 17072 Feature /change: -c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1259 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 307 Feature /change: S -> SGSGRNILRL KHQCPSHRAQ TPRTGGAAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_A883S(1); standard; MUTATION; PK Accession K00681 Systematic name g.44057G>T, c.2647G>T, r.2647g>u, p.Ala883Ser Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 31-May-2006 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 15947103 RefAuthors Rossi, S., Fugazzola, L., De Pasquale, L., Braidotti, P., RefAuthors Cirello, V., Beck-Peccoz, P., Bosari, S., Bastagli, A. RefTitle Medullary and papillary carcinoma of the thyroid gland RefTitle occurring as a collision tumour: report of three cases RefTitle with molecular analysis and review of the literature. RefLoc Endocr Relat Cancer:281-289 (2005) RefNumber [13] RefCrossRef PUBMED; 16532227 RefAuthors Toledo, S. P., dos Santos, M. A., Toledo, R. d. e. . A., RefAuthors Lourenco, D. M. RefTitle Impact of RET proto-oncogene analysis on the clinical RefTitle management of multiple endocrine neoplasia type 2. RefLoc Clinics (Sao Paulo) 61:59-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44057 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2842 Feature /codon: gct -> tct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 883 Feature /change: A -> S Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 2; Patients: 3; Homozygotes: 0 Comment -!-The patients in one family harboured, besides medullary Comment -!-cancer and C-cell hyperplasia, distinct foci of papillary Comment -!-thyroid cancer, which was positive for Val600Glu BRAF Comment -!-mutation // ID RET_R694Q(1); standard; MUTATION; Accession K00682 Systematic name g.38618G>A, c.2081G>A, r.2081g>a, p.Arg694Gln Description A point mutation in the exon 11 leading to an amino acid Description change Date 31-May-2006 (Rel. 2, Created) Date 31-May-2006 (Rel. 2, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15472167 RefAuthors Orgiana, G., Pinna, G., Camedda, A., De Falco, V., RefAuthors Santoro, M., Melillo, R. M., Elisei, R., Romei, C., Lai, RefAuthors S., Carcassi, C., Mariotti, S. RefTitle A new germline RET mutation apparently devoid of RefTitle transforming activity serendipitously discovered in a RefTitle patient with atrophic autoimmune thyroiditis and primary RefTitle ovarian failure. RefLoc J Clin Endocrinol Metab:4810-4816 (2004) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 38618 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2276 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 694 Feature /change: R -> Q Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-atrophic Hashimoto's thyroiditis and primary ovarian Comment -!-failure // ID RET_R912P(1); standard; MUTATION; PK Accession K00683 Systematic name g.45887G>C, c.2735G>C, r.2735g>c, p.Arg912Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 31-May-2006 (Rel. 2, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 15240641 RefAuthors Jimenez, C., Dang, G. T., Schultz, P. N., El-Naggar, A., RefAuthors Shapiro, S., Barnes, E. A., Evans, D. B., Vassilopoulou- RefAuthors Sellin, R., Gagel, R. F., Cote, G. J., Hoff, A. O. RefTitle A novel point mutation of the RET protooncogene involving RefTitle the second intracellular tyrosine kinase domain in a RefTitle family with medullary thyroid carcinoma. RefLoc J Clin Endocrinol Metab:3521-3526 (2004) RefNumber [6] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 45887 Feature /change: g -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2930 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 912 Feature /change: R -> P Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 2; Patients: 12; Homozygotes: 0 // ID CHEK2_H371Y(1); standard; MUTATION; PK Accession K00685 Systematic name g.49852C>T, c.1111C>T, r.1111c>u, p.His371Tyr Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 24-Jun-2008 (Rel. 2, Created) Date 24-Jun-2008 (Rel. 2, Last updated, Version 2) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 49852 Feature /change: c -> t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1147 Feature /codon: cac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 371 Feature /change: H -> Y Feature /domain: PK Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID CHEK2_E321K(1); standard; MUTATION; PK Accession K00686 Systematic name g.45825G>A, c.961G>A, r.961g>a, p.Glu321Lys Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 24-Jun-2008 (Rel. 2, Created) Date 24-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 45825 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 997 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 321 Feature /change: E -> K Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_G687R(1); standard; MUTATION; PK Accession K00687 Systematic name g.55340G>A, c.2059G>A, r.2059g>a, p.Gly687Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 15845591 RefAuthors Sato, N., Hasegawa, T., Hori, N., Fukami, M., Yoshimura, RefAuthors Y., Ogata, T. RefTitle Gonadotrophin therapy in Kallmann syndrome caused by RefTitle heterozygous mutations of the gene for fibroblast growth RefTitle factor receptor 1: report of three families: case report. RefLoc Hum Reprod 20:2173-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55340 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2785 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 687 Feature /change: G -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 5; Homozygotes: 0 // ID FGFR1_H621R(1); standard; MUTATION; PK Accession K00688 Systematic name g.54725A>G, c.1862A>G, r.1862a>g, p.His621Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [7] RefCrossRef PUBMED; 17154279 RefAuthors Dode, C., Fouveaut, C., Mortier, G., Janssens, S., RefAuthors Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, RefAuthors C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, RefAuthors S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, RefAuthors P., Young, J., Delpech, M., Hardelin, J. P. RefTitle Novel FGFR1 sequence variants in Kallmann syndrome, and RefTitle genetic evidence that the FGFR1c isoform is required in RefTitle olfactory bulb and palate morphogenesis. RefLoc Hum Mutat 28:97-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 54725 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2588 Feature /codon: cac -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 621 Feature /change: H -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR1_R661X(1); standard; MUTATION; PK Accession K00689 Systematic name g.54993C>T, c.1981C>T, r.1981c>u, p.Arg661X Description A point mutation in the exon 15 leading to a premature stop Description codon in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 2, Last updated, Version 3) RefNumber [7] RefCrossRef PUBMED; 17154279 RefAuthors Dode, C., Fouveaut, C., Mortier, G., Janssens, S., RefAuthors Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, RefAuthors C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, RefAuthors S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, RefAuthors P., Young, J., Delpech, M., Hardelin, J. P. RefTitle Novel FGFR1 sequence variants in Kallmann syndrome, and RefTitle genetic evidence that the FGFR1c isoform is required in RefTitle olfactory bulb and palate morphogenesis. RefLoc Hum Mutat 28:97-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 54993 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2707 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 661 Feature /change: R -> X Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FGFR1_S685F(1); standard; MUTATION; PK Accession K00690 Systematic name g.55335C>T, c.2054C>T, r.2054c>u, p.Ser685Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [7] RefCrossRef PUBMED; 17154279 RefAuthors Dode, C., Fouveaut, C., Mortier, G., Janssens, S., RefAuthors Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, RefAuthors C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, RefAuthors S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, RefAuthors P., Young, J., Delpech, M., Hardelin, J. P. RefTitle Novel FGFR1 sequence variants in Kallmann syndrome, and RefTitle genetic evidence that the FGFR1c isoform is required in RefTitle olfactory bulb and palate morphogenesis. RefLoc Hum Mutat 28:97-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55335 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2780 Feature /codon: tct -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 685 Feature /change: S -> F Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR1_I693F(1); standard; MUTATION; PK Accession K00691 Systematic name g.55358A>T, c.2077A>T, r.2077a>u, p.Ile693Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [7] RefCrossRef PUBMED; 17154279 RefAuthors Dode, C., Fouveaut, C., Mortier, G., Janssens, S., RefAuthors Bertherat, J., Mahoudeau, J., Kottler, M. L., Chabrolle, RefAuthors C., Gancel, A., Francois, I., Devriendt, K., Wolczynski, RefAuthors S., Pugeat, M., Pineiro-Garcia, A., Murat, A., Bouchard, RefAuthors P., Young, J., Delpech, M., Hardelin, J. P. RefTitle Novel FGFR1 sequence variants in Kallmann syndrome, and RefTitle genetic evidence that the FGFR1c isoform is required in RefTitle olfactory bulb and palate morphogenesis. RefLoc Hum Mutat 28:97-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55358 Feature /change: a -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2803 Feature /codon: atc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 693 Feature /change: I -> F Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID FGFR1_I538V(1); standard; MUTATION; PK Accession K00692 Systematic name g.52262A>G, c.1612A>G, r.1612a>g, p.Ile538Val Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [5] RefCrossRef PUBMED; 16764984 RefAuthors Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., RefAuthors Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, RefAuthors F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., RefAuthors Mohammadi, M., Crowley, W. F. RefTitle Mutations in fibroblast growth factor receptor 1 cause RefTitle Kallmann syndrome with a wide spectrum of reproductive RefTitle phenotypes. RefLoc Mol Cell Endocrinol 254-255:60-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 52262 Feature /change: a -> g Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2338 Feature /codon: atc -> gtc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 538 Feature /change: I -> V Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 3; Patients: 5; Homozygotes: 0 // ID FGFR1_Y585X(1); standard; MUTATION; PK Accession K00693 Systematic name g.53650C>A, c.1755C>A, r.1755c>a, p.Tyr585X Description A point mutation in the exon 13 leading to a premature stop Description codon in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16764984 RefAuthors Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., RefAuthors Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, RefAuthors F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., RefAuthors Mohammadi, M., Crowley, W. F. RefTitle Mutations in fibroblast growth factor receptor 1 cause RefTitle Kallmann syndrome with a wide spectrum of reproductive RefTitle phenotypes. RefLoc Mol Cell Endocrinol 254-255:60-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 53650 Feature /change: c -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2481 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 585 Feature /change: Y -> X Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR1_G703R(1); standard; MUTATION; PK Accession K00694 Systematic name g.55388G>C, c.2107G>C, r.2107g>c, p.Gly703Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16764984 RefAuthors Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., RefAuthors Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, RefAuthors F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., RefAuthors Mohammadi, M., Crowley, W. F. RefTitle Mutations in fibroblast growth factor receptor 1 cause RefTitle Kallmann syndrome with a wide spectrum of reproductive RefTitle phenotypes. RefLoc Mol Cell Endocrinol 254-255:60-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55388 Feature /change: g -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2833 Feature /codon: ggt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 703 Feature /change: G -> R Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 8; Homozygotes: 0 // ID FGFR1_G703S(1); standard; MUTATION; PK Accession K00695 Systematic name g.55388G>A, c.2107G>A, r.2107g>a, p.Gly703Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16764984 RefAuthors Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., RefAuthors Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, RefAuthors F., Seminara, S., Hughes, V. A., Ma, J., Bouloux, P., RefAuthors Mohammadi, M., Crowley, W. F. RefTitle Mutations in fibroblast growth factor receptor 1 cause RefTitle Kallmann syndrome with a wide spectrum of reproductive RefTitle phenotypes. RefLoc Mol Cell Endocrinol 254-255:60-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55388 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2833 Feature /codon: ggt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 703 Feature /change: G -> S Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR1_R622G(1); standard; MUTATION; PK Accession K00696 Systematic name g.54727C>G, c.1864C>G, r.1864c>g, p.Arg622Gly Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 16757108 RefAuthors Zenaty, D., Bretones, P., Lambe, C., Guemas, I., David, RefAuthors M., Leger, J., de Roux, N. RefTitle Paediatric phenotype of Kallmann syndrome due to mutations RefTitle of fibroblast growth factor receptor 1 (FGFR1). RefLoc Mol Cell Endocrinol 254-255:78-83 RefNumber [10] RefCrossRef PUBMED; 20536592 RefAuthors Bailleul-Forestier, I., Gros, C., Zenaty, D., Bennaceur, RefAuthors S., Leger, J., de Roux, N. RefTitle Dental agenesis in Kallmann syndrome individuals with RefTitle FGFR1 mutations. RefLoc Int J Paediatr Dent 20:305-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 54727 Feature /change: c -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2590 Feature /codon: cga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 622 Feature /change: R -> G Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID FGFR1_R622Q(1); standard; MUTATION; PK Accession K00697 Systematic name g.54728G>A, c.1865G>A, r.1865g>a, p.Arg622Gln Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 16757108 RefAuthors Zenaty, D., Bretones, P., Lambe, C., Guemas, I., David, RefAuthors M., Leger, J., de Roux, N. RefTitle Paediatric phenotype of Kallmann syndrome due to mutations RefTitle of fibroblast growth factor receptor 1 (FGFR1). RefLoc Mol Cell Endocrinol 254-255:78-83 RefNumber [10] RefCrossRef PUBMED; 20536592 RefAuthors Bailleul-Forestier, I., Gros, C., Zenaty, D., Bennaceur, RefAuthors S., Leger, J., de Roux, N. RefTitle Dental agenesis in Kallmann syndrome individuals with RefTitle FGFR1 mutations. RefLoc Int J Paediatr Dent 20:305-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 54728 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2591 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 622 Feature /change: R -> Q Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 3; Patients: 5; Homozygotes: 0 // ID FGFR1_P722H(1); standard; MUTATION; PK Accession K00698 Systematic name g.55446C>A, c.2165C>A, r.2165c>a, p.Pro722His Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55446 Feature /change: c -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2891 Feature /codon: ccc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 722 Feature /change: P -> H Feature /domain: PK Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID FGFR1_Q680X(1); standard; MUTATION; PK Accession K00699 Systematic name g.55050C>T, c.2038C>T, r.2038c>u, p.Gln680X Description A point mutation in the exon 15 leading to a premature stop Description codon in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 25-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55050 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2764 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 680 Feature /change: Q -> X Feature /domain: PK Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID FGFR1_#K618X654(1); standard; MUTATION; PK Accession K00700 Systematic name g.53747delA, c.1852delA, r.1852dela, p.Lys618fsX13 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [6] RefCrossRef PUBMED; 16882753 RefAuthors Trarbach, E. B., Costa, E. M., Versiani, B., de Castro, RefAuthors M., Baptista, M. T., Garmes, H. M., de Mendonca, B. B., RefAuthors Latronico, A. C. RefTitle Novel fibroblast growth factor receptor 1 mutations in RefTitle patients with congenital hypogonadotropic hypogonadism RefTitle with and without anosmia. RefLoc J Clin Endocrinol Metab 91:4006-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: FGFR1_DNA: 53747 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X66945; GI:120046; X66945: 2578 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 618 Feature /change: K -> SAYTETWQPG MSWX Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 2; Patients: 5; Homozygotes: 0 // ID FGFR1_P722S(1); standard; MUTATION; PK Accession K00701 Systematic name g.55445C>T, c.2164C>T, r.2164c>u, p.Pro722Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 25-Jun-2008 (Rel. 2, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [6] RefCrossRef PUBMED; 16882753 RefAuthors Trarbach, E. B., Costa, E. M., Versiani, B., de Castro, RefAuthors M., Baptista, M. T., Garmes, H. M., de Mendonca, B. B., RefAuthors Latronico, A. C. RefTitle Novel fibroblast growth factor receptor 1 mutations in RefTitle patients with congenital hypogonadotropic hypogonadism RefTitle with and without anosmia. RefLoc J Clin Endocrinol Metab 91:4006-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55445 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2890 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 722 Feature /change: P -> S Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_K420X(1); standard; MUTATION; TK Accession K00702 Systematic name g.64600A>T, c.1258A>T, r.1258a>u, p.Lys420X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64600 Feature /change: a -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1390 Feature /codon: aaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 420 Feature /change: K -> X Feature /domain: TK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Patient had leukemia. Carried also in the other allele a Comment -!-1-bp deletion in codon 386. // ID BTK_L402P(2); standard; MUTATION; TK Accession K00703 Systematic name g.64547T>C, c.1205T>C, r.1205u>c, p.Leu402Pro Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64547 Feature /change: t -> c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1337 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 402 Feature /change: L -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_K430E(2); standard; MUTATION; TK Accession K00704 Systematic name g.64630A>G, c.1288A>G, r.1288a>g, p.Lys430Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64630 Feature /change: a -> g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1420 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> E Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_L512P(2); standard; MUTATION; TK Accession K00705 Systematic name g.65392T>C, c.1535T>C, r.1535u>c, p.Leu512Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65392 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1667 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 512 Feature /change: L -> P Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R544S(2); standard; MUTATION; TK Accession K00706 Systematic name g.67487G>T, c.1632G>T, r.1632g>u, p.Arg544Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67487 Feature /change: g -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1764 Feature /codon: agg -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R544G(2); standard; MUTATION; TK Accession K00707 Systematic name g.66844A>G, c.1630A>G, r.1630a>g, p.Arg544Gly Description A point mutation in the exon 16 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 66844 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1762 Feature /codon: agg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> G Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_P566S(2); standard; MUTATION; TK Accession K00708 Systematic name g.67551C>T, c.1696C>T, r.1696c>u, p.Pro566Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67551 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1828 Feature /codon: ccg -> tcg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 566 Feature /change: P -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_S575R(2); standard; MUTATION; TK Accession K00709 Systematic name g.67580C>A, c.1725C>A, r.1725c>a, p.Ser575Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67580 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1857 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 575 Feature /change: S -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BTK_D579V(1); standard; MUTATION; TK Accession K00710 Systematic name g.67591A>T, c.1736A>T, r.1736a>u, p.Asp579Val Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67591 Feature /change: a -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1868 Feature /codon: gac -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 579 Feature /change: D -> V Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_K466X(2); standard; MUTATION; TK Accession K00711 Systematic name g.65253A>T, c.1396A>T, r.1396a>u, p.Lys466X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65253 Feature /change: a -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1528 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 466 Feature /change: K -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W581X(2); standard; MUTATION; TK Accession K00712 Systematic name g.67598G>A, c.1743G>A, r.1743g>a, p.Trp581X Description A point mutation in the exon 17 leading to a premature stop Description codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67598 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1875 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 Feature /change: W -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Q612X(2); standard; MUTATION; TK Accession K00713 Systematic name g.68208C>T, c.1834C>T, r.1834c>u, p.Gln612X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68208 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1966 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_@S572X587(2); standard; MUTATION; TK Accession K00714 Systematic name g.67570_67571insT, c.1715_1716insT, r.1715_1716insu, Systematic name p.Lys573fsX6 Description A frame shift insertion mutation in the exon 17 leading to Description a premature stop codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 67571 Feature /change: +t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1848 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 572 Feature /change: S -> SQVQQQIX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID BTK_#Q612X648(2); standard; MUTATION; TK Accession K00715 Systematic name g.68208delC, c.1834delC, r.1834delc, p.Gln612fsX36 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68208 Feature /change: -c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1966 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 612 Feature /change: Q -> KAYVSTGLIW LQRRYIPSCT VVGMRKQMSV PLSKFFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W581S(1); standard; MUTATION; TK Accession K00716 Systematic name g.67597G>C, c.1742G>C, r.1742g>c, p.Trp581Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16405441 RefAuthors Liu, A. J., Dao-Ung, L. P., McDonald, D., Nanan, R. RefTitle Chronic gingivitis in a new BTK mutation. RefLoc Eur J Haematol:171-175 (2006) DB CrossRef BTKbase; A1063 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67597 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1874 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 Feature /change: W -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Mild XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#D426X431(1); standard; MUTATION; TK Accession K00717 Systematic name g.64620delC, c.1278delC, r.1278delc, p.Asp426fsX5 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 64620 Feature /change: -c Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1410 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 426 Feature /change: D -> EWPSRX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G613A(1); standard; MUTATION; TK Accession K00718 Systematic name g.68212G>C, c.1838G>C, r.1838g>c, p.Gly613Ala Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) DB CrossRef BTKbase; A1061 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68212 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1970 Feature /codon: ggc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 613 Feature /change: G -> A Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_M630R(1); standard; MUTATION; TK Accession K00719 Systematic name g.68263T>G, c.1889T>G, r.1889u>g, p.Met630Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68263 Feature /change: t -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2021 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 630 Feature /change: M -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#F583X586(1); standard; MUTATION; TK Accession K00720 Systematic name g.67604delT, c.1749delT, r.1749delu, p.Phe583fsX3 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 67604 Feature /change: -t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1881 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 583 Feature /change: F -> LGFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G419E(1); standard; MUTATION; TK Accession K00721 Systematic name g.64598G>A, c.1256G>A, r.1256g>a, p.Gly419Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64598 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1388 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 419 Feature /change: G -> E Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W588R(1); standard; MUTATION; TK Accession K00722 Systematic name g.68136T>C, c.1762T>C, r.1762u>c, p.Trp588Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68136 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1894 Feature /codon: tgg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 588 Feature /change: W -> R Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_C464X(1); standard; MUTATION; TK Accession K00723 Systematic name g.65249C>A, c.1392C>A, r.1392c>a, p.Cys464X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1020 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65249 Feature /change: c -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1524 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 464 Feature /change: C -> X Feature /domain: TK Diagnosis X-linked agammaglobulinemia Diagnosis Classical XLA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BTK_#R641X646(1); standard; MUTATION; TK Accession K00724 Systematic name g.71533delC, c.1921delC, r.1921delc, p.Arg641fsX7 Description A frame shift deletion mutation in the exon 19 leading to a Description premature stop codon in the TK domain Date 27-Jun-2008 (Rel. 2, Created) Date 27-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 71533 Feature /change: -c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2053 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 641 Feature /change: R -> VPLSKFFX Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_R621H(1); standard; MUTATION; PK Accession K00725 Systematic name g.13181G>A, c.1862G>A, r.1862g>a, p.Arg621His Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 27-Jun-2008 (Rel. 2, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [33] RefCrossRef PUBMED; 17033969 RefAuthors Toydemir, R. M., Brassington, A. E., Bayrak-Toydemir, P., RefAuthors Krakowiak, P. A., Jorde, L. B., Whitby, F. G., Longo, N., RefAuthors Viskochil, D. H., Carey, J. C., Bamshad, M. J. RefTitle A novel mutation in FGFR3 causes camptodactyly, tall RefTitle stature, and hearing loss (CATSHL) syndrome. RefLoc Am J Hum Genet 79:935-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13181 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1901 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 621 Feature /change: R -> H Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 20; Homozygotes: 0 Comment -!-Diagnosed by camptodactyly, tall stature, scoloisis and Comment -!-hearing loss (CATSHL syndrome) // ID FGFR1_R609X(1); standard; MUTATION; PK Accession K00726 Systematic name g.53720C>T, c.1825C>T, r.1825c>u, p.Arg609X Description A point mutation in the exon 13 leading to a premature stop Description codon in the PK domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 53720 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2551 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 609 Feature /change: R -> X Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: Comment -!-disease: nonsundromic cleft lip and palate (NS CLP) // ID BTK_D639Y(1); standard; MUTATION; TK Accession K00727 Systematic name g.71527G>T, c.1915G>T, r.1915g>u, p.Asp639Tyr Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71527 Feature /change: g -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2047 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 639 Feature /change: D -> Y Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R544S(3); standard; MUTATION; TK Accession K00728 Systematic name g.67487G>C, c.1632G>C, r.1632g>c, p.Arg544Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67487 Feature /change: g -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1764 Feature /codon: agg -> agc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> S Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E605G(1); standard; MUTATION; TK Accession K00729 Systematic name g.68188A>G, c.1814A>G, r.1814a>g, p.Glu605Gly Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68188 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1946 Feature /codon: gag -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 605 Feature /change: E -> G Feature /domain: TK Diagnosis X-linked agammaglobulinemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ROR2_#Y646X702(1); standard; MUTATION; STR1 Accession K00730 Systematic name g.226606delA, c.1937delA, r.1937dela, p.Tyr646fsX58 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the STR1 domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ROR2_DNA: 226606 Feature /change: -a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 2136 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ROR2_HUMAN: 646 Feature /change: Y -> Feature /change: SSCWGTRCCL SAGWPQRPSC TASSPSTQTS GPTVWSCGRS Feature /change: SATACSPTAG TPTRMWWRX Feature /domain: STR1 Diagnosis Robinow syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID ROR2_R119X(1); standard; MUTATION; FZ Accession K00731 Systematic name g.193783C>T, c.355C>T, r.355c>u, p.Arg119X Description A point mutation in the exon 3 leading to a premature stop Description codon in the FZ domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 193783 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 554 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ROR2_HUMAN: 119 Feature /change: R -> X Feature /domain: FZ Diagnosis Robinow syndrome Occurrence Families: 1; Patients: 1; Homozygotes: Comment -!-Patient has two heterozygous ROR2 mutations. Other mutation Comment -!-is K00732. // ID ROR2_R184C(1); standard; MUTATION; KRINGLE Accession K00732 Systematic name g.213700C>T, c.550C>T, r.550c>u, p.Arg184Cys Description A point mutation in the exon 5 leading to an amino acid Description change in the KRINGLE domain Date 30-Jun-2008 (Rel. 2, Created) Date 30-Jun-2008 (Rel. 2, Last updated, Version 2) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ROR2_DNA: 213700 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M97639; GI:13878706; HSROR2A: 749 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ROR2_HUMAN: 184 Feature /change: R -> C Feature /domain: KRINGLE Diagnosis Robinow syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Patient has two heterozygous ROR2 mutations. Other mutation Comment -!-is K00731. // ID FLT4_E1106K(1); standard; MUTATION; PK Accession K00733 Systematic name g.36463G>A, c.3316G>A, r.3316g>a, p.Glu1106Lys Description A point mutation in the exon 24 leading to an amino acid Description change in the PK domain Date 06-Aug-2008 (Rel. 2, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16924388 RefAuthors Spiegel, R., Ghalamkarpour, A., Daniel-Spiegel, E., RefAuthors Vikkula, M., Shalev, S. A. RefTitle Wide clinical spectrum in a family with hereditary RefTitle lymphedema type I due to a novel missense mutation in RefTitle VEGFR3. RefLoc J Hum Genet 51:846-50 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 36463 Feature /change: g -> a Feature /genomic_region: exon; 24 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3337 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1106 Feature /change: E -> K Feature /domain: PK Diagnosis Hereditary lymphedema Diagnosis Occurrence Families: 2; Patients: 34; Homozygotes: 0 // ID KIT_L611L(1); standard; MUTATION; PK Accession K00734 Systematic name g.70866G>A, c.1833G>A, r.1833g>a, p.Leu611Leu Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 13-Aug-2008 (Rel. 2, Created) Date 13-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70866 Feature /change: a -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1854 Feature /codon: tta -> tta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 611 Feature /change: L -> L Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID NTRK1_D770N(1); standard; MUTATION; PK Accession K00735 Systematic name g.21643G>A, c.2308G>A, r.2308g>a, p.Asp770Asn Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 15-Aug-2008 (Rel. 2, Created) Date 15-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 21643 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2428 Feature /codon: gat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 770 Feature /change: D -> N Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID NTRK1_L558F(1); standard; MUTATION; PK Accession K00736 Systematic name g.16523C>T, c.1672C>T, r.1672c>u, p.Leu558Phe Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 15-Aug-2008 (Rel. 2, Created) Date 15-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16523 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1792 Feature /codon: ctc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 558 Feature /change: L -> F Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#G276X286(1); standard; MUTATION; PK Accession K00737 Systematic name g.15391delG, c.826delG, r.826delg, p.Gly276fsX10 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Aug-2008 (Rel. 2, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [12] RefCrossRef PUBMED; 18495044 RefAuthors Yoo, J. H., Yoo, J. H., Choi, Y. J., Kang, J. G., Sun, Y. RefAuthors K., Ki, C. S., Lee, K. A., Choi, J. R. RefTitle A novel de novo mutation in the serine-threonine kinase RefTitle STK11 gene in a Korean patient with Peutz-Jeghers RefTitle syndrome. RefLoc BMC Med Genet 9:44 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15391 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1164 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 276 Feature /change: G -> ATVAPRSLTC X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_#I274X286(1); standard; MUTATION; PK Accession K00738 Systematic name g.15386delT, c.821delT, r.821delu, p.Ile274fsX12 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Aug-2008 (Rel. 2, Created) Date 22-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15386 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1159 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 274 Feature /change: I -> TRATVAPRSL TCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_E480X(1); standard; MUTATION; PK Accession K00739 Systematic name g.82548G>T, c.1438G>T, r.1438g>u, p.Glu480X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 25-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82548 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3010 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 480 Feature /change: E -> X Feature /domain: PK Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-A new dysmorphic syndrome with mutations in either Comment -!-transforming groth factor-beta receptor 1 (TGFBR1) or Comment -!-(TGFBR2) was reported as Loeys-Dietz syndrome(LDS)(2) Comment -!-characterized by hypertelorism (wide spaced eyes),cleft Comment -!-palate or bifid uvula, aortic root aneurysm, arterial Comment -!-tortuosity and aneurysmus of other vessels. // ID TGFBR2_T516K(1); standard; MUTATION; PK Accession K00740 Systematic name g.85565C>A, c.1547C>A, r.1547c>a, p.Thr516Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 17979970 RefAuthors van Steensel, M. A., van Geel, M., Parren, L. J., RefAuthors Schrander-Stumpel, C. T., Marcus-Soekarman, D. RefTitle Shprintzen-Goldberg syndrome associated with a novel RefTitle missense mutation in TGFBR2. RefLoc Exp Dermatol 17:362-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85565 Feature /change: c -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3119 Feature /codon: acg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 516 Feature /change: T -> K Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Shprintzen-Goldberg syndrome (SGS) associated with a novel Comment -!-missence mutation in TGFBR2.Shprintzen-Goldberg syndrome Comment -!-(SGS) is a rare disorder characterized by a Marfan-like Comment -!-habitus, mental retardation and craniosynostosis. Cardiac Comment -!-abnormalities, such as aortic root dilation have also been Comment -!-noted as well as several skeletal abnormalities.Its Comment -!-nosological status is unclear as it is hard to delineate Comment -!-SGS from similar disorders, such as Furlong, Marfan type Comment -!-II, Camurati-Engelmann and Loeys-Dietz syndromes. // ID TGFBR2_V513E(1); standard; MUTATION; PK Accession K00741 Systematic name g.85556G>A, c.1538G>A, r.1538g>a, p.Val513Glu Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 25-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85556 Feature /change: t -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3110 Feature /codon: gtg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 513 Feature /change: V -> E Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Patient with Loeys-Dietz syndrome Patient with Loeys-Dietz Comment -!-syndrome in the setting of Patient with Loeys-Dietz Comment -!-syndrome in the setting of a murmur, diffuse hypodontia, Comment -!-macrocrania, and musculo-skletal abnormalities including Comment -!-bilateral knee dislocations and hip dislocations. // ID TGFBR2_R528H(1); standard; MUTATION; PK Accession K00742 Systematic name g.85601G>A, c.1583G>A, r.1583g>a, p.Arg528His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85601 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3155 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 528 Feature /change: R -> H Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Patient with Loeys-Dietz syndrome Patient with Loeys-Dietz Comment -!-syndrome in the setting of Patient with Loeys-Dietz Comment -!-syndrome in the setting of a murmur, diffuse hypodontia, Comment -!-macrocrania, and musculo-skletal abnormalities including Comment -!-bilateral knee dislocations and hip dislocations. // ID TGFBR2_D524N(1); standard; MUTATION; PK Accession K00743 Systematic name g.85588G>A, c.1570G>A, r.1570g>a, p.Asp524Asn Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 25-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85588 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3142 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 524 Feature /change: D -> N Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Patient with Loeys-Dietz syndrome in the setting of Patient Comment -!-with Loeys-Dietz syndrome in the setting of a murmur, Comment -!-diffuse hypodontia, macrocrania, and musculo-skletal Comment -!-abnormalities including bilateral knee dislocations and hip Comment -!-dislocations. // ID TGFBR2_E440K(1); standard; MUTATION; PK Accession K00744 Systematic name g.68291G>A, c.1318G>A, r.1318g>a, p.Glu440Lys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 25-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68291 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2890 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 440 Feature /change: E -> K Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Patient with Loeys-Dietz syndrome for apnea,diffuse Comment -!-hypodontia, and musculo-skletal abnormalities. // ID TGFBR2_G4W(1); standard; MUTATION; SIGNAL Accession K00745 Systematic name g.1016C>T, c.10C>T, r.10c>u, p.Gly4Trp Description A point mutation in the exon 1 leading to an amino acid Description change in the SIGNAL domain Date 25-Aug-2008 (Rel. 2, Created) Date 25-Aug-2008 (Rel. 2, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 1016 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 1582 Feature /codon: ggg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 4 Feature /change: G -> W Feature /domain: SIGNAL Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The patient presented with features of both MFS and Comment -!-Loyes-Dietz syndrome (LDS). Features such as: rapidly Comment -!-progressive aneurysms, dissection and tortuous vascular Comment -!-disease involving the aortic root and arch, Comment -!-thoracoabdominal aorta, and the brachio-cephalic, Comment -!-vertebral, internal thoracic and superior mesenteric Comment -!-arteries. // ID TGFBR2_R528C(1); standard; MUTATION; PK Accession K00746 Systematic name g.85600C>T, c.1582C>T, r.1582c>u, p.Arg528Cys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 25-Aug-2008 (Rel. 2, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 5) RefNumber [3] RefCrossRef PUBMED; 20144264 RefAuthors Chen, J., Li, B., Yang, Y., Hu, J., Zhao, T., Gong, Y., RefAuthors Tan, Z. RefTitle Mutations of the TGFBR2 gene in Chinese patients with RefTitle Marfan-related syndrome. RefLoc Clin Invest Med 33:E14-21 RefNumber [6] RefCrossRef PUBMED; 19875893 RefAuthors Jamsheer, A., Henggeler, C., Wierzba, J., Loeys, B., De RefAuthors Paepe, A., Stheneur, C. h., Badziag, N., Matuszewska, K., RefAuthors Matyas, G., Latos-Bielenska, A. RefTitle A new sporadic case of early-onset Loeys-Dietz syndrome RefTitle due to the recurrent mutation p.R528C in the TGFBR2 gene RefTitle substantiates interindividual clinical variability. RefLoc J Appl Genet 50:405-10 RefNumber [5] RefCrossRef PUBMED; 17330129 RefAuthors LeMaire, S. A., Pannu, H., Tran-Fadulu, V., Carter, S. A., RefAuthors Coselli, J. S., Milewicz, D. M. RefTitle Severe aortic and arterial aneurysms associated with a RefTitle TGFBR2 mutation. RefLoc Nat Clin Pract Cardiovasc Med 4:167-71 RefNumber [4] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85600 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3154 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 528 Feature /change: R -> C Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 9; Patients: 9; Homozygotes: 0 Comment -!-The patient presented with features of both MFS and Comment -!-Loyes-Dietz syndrome (LDS). Features such as: rapidly Comment -!-progressive aneurysms, dissection and tortuous vascular Comment -!-disease involving the aortic root and arch, Comment -!-thoracoabdominal aorta, and the brachio-cephalic, Comment -!-vertebral, internal thoracic and superior mesenteric Comment -!-arteries. Comment -!-Neonatal Marfan Syndrome. // ID TGFBR2_S441F(1); standard; MUTATION; PK Accession K00747 Systematic name g.68295C>T, c.1322C>T, r.1322c>u, p.Ser441Phe Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 26-Aug-2008 (Rel. 2, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 RefNumber [4] RefCrossRef PUBMED; 19159394 RefAuthors Soylen, B., Singh, K. K., Abuzainin, A., Rommel, K., RefAuthors Becker, H., Arslan-Kirchner, M., Schmidtke, J. RefTitle Prevalence of dural ectasia in 63 gene-mutation-positive RefTitle patients with features of Marfan syndrome type 1 and Loeys- RefTitle Dietz syndrome and report of 22 novel FBN1 mutations. RefLoc Clin Genet 75:265-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68295 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2894 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 441 Feature /change: S -> F Feature /domain: PK Diagnosis Loeys-Dietz syndrome Diagnosis Hereditary nonpolyposis colorectal cancer Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Marfan syndrome (MFS) is an autosomal dominant connective Comment -!-tissue disorder characterized by manifestations in the Comment -!-cardiovascular, skeletal, ocular and other organ syatems. // ID TGFBR2_N384S(1); standard; MUTATION; PK Accession K00748 Systematic name g.66457A>G, c.1151A>G, r.1151a>g, p.Asn384Ser Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 26-Aug-2008 (Rel. 2, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66457 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2723 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 384 Feature /change: N -> S Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 2; Patients: 5; Homozygotes: 0 Comment -!-Marfan syndrome (MFS) is an autosomal dominant connective Comment -!-tissue disorder characterized by manifestations in the Comment -!-cardiovascular, skeletal, ocular and other organ syatems. // ID TGFBR2_R460C(1); standard; MUTATION; PK Accession K00749 Systematic name g.68351C>T, c.1378C>T, r.1378c>u, p.Arg460Cys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 26-Aug-2008 (Rel. 2, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68351 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2950 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 460 Feature /change: R -> C Feature /domain: PK Diagnosis Diagnosis Loeys-Dietz syndrome Occurrence Families: 4; Patients: 27; Homozygotes: 0 Comment -!-Marfan syndrome (MFS) is an autosomal dominant connective Comment -!-tissue disorder characterized by manifestations in the Comment -!-cardiovascular, skeletal, ocular and other organ syatems. Comment -!-Thoracic Aortic Aneurysms and Dissections (TAAD) is the Comment -!-major cardiovascular coplication of Marfin syndrome (MFS), Comment -!-a pleiotropic disorder with involvement of cardiovascular, Comment -!-ocular, and skeletal systems. // ID TGFBR2_C396W(1); standard; MUTATION; PK Accession K00750 Systematic name g.66494T>G, c.1188T>G, r.1188u>g, p.Cys396Trp Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 26-Aug-2008 (Rel. 2, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66494 Feature /change: t -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2760 Feature /codon: tgt -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 396 Feature /change: C -> W Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Marfan syndrome (MFS) is an autosomal dominant connective Comment -!-tissue disorder characterized by manifestations in the Comment -!-cardiovascular, skeletal, ocular and other organ syatems. // ID TGFBR2_R497X(1); standard; MUTATION; PK Accession K00751 Systematic name g.82599C>T, c.1489C>T, r.1489c>u, p.Arg497X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 26-Aug-2008 (Rel. 2, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 RefNumber [22] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82599 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3061 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 497 Feature /change: R -> X Feature /domain: PK Diagnosis Loeys-Dietz syndrome Diagnosis Hereditary nonpolyposis colorectal cancer Occurrence Families: 3; Patients: 3; Homozygotes: 0 Comment -!-Patient demonstrates with Loeys-Dietz aortic aneurysm Comment -!-syndrome (LDS). He had involvement of skeletal Comment -!-system(pectus excavatum, scoliosis, and arachnodactyly with Comment -!-positive thumb and wrist signs). // ID TGFBR2_R460H(1); standard; MUTATION; PK Accession K00752 Systematic name g.68352G>A, c.1379G>A, r.1379g>a, p.Arg460His Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 26-Aug-2008 (Rel. 2, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16885183 RefAuthors Law, C., Bunyan, D., Castle, B., Day, L., Simpson, I., RefAuthors Westwood, G., Keeton, B. RefTitle Clinical features in a family with an R460H mutation in RefTitle transforming growth factor beta receptor 2 gene. RefLoc J Med Genet 43:908-16 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68352 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2951 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 460 Feature /change: R -> H Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 3; Patients: 22; Homozygotes: 0 Comment -!-Thoracic Aortic Aneurysms and Dissections (TAAD) is the Comment -!-major cardiovascular coplication of Marfin syndrome (MFS), Comment -!-a pleiotropic disorder with involvement of cardiovascular, Comment -!-ocular, and skeletal systems. // ID TGFBR2_I510S(1); standard; MUTATION; PK Accession K00753 Systematic name g.85547T>G, c.1529T>G, r.1529u>g, p.Ile510Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 10-Feb-2011 (Rel. 3, Created) Date 10-Feb-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19883511 RefAuthors Drera, B., Ritelli, M., Zoppi, N., Wischmeijer, A., Gnoli, RefAuthors M., Fattori, R., Calzavara-Pinton, P. G., Barlati, S., RefAuthors Colombi, M. RefTitle Loeys-Dietz syndrome type I and type II: clinical findings RefTitle and novel mutations in two Italian patients. RefLoc Orphanet J Rare Dis 4:24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85547 Feature /change: t -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3101 Feature /codon: atc -> agc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 510 Feature /change: I -> S Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_W221X(1); standard; MUTATION; PK Accession K00754 Systematic name g.3001G>A, c.662G>A, r.662g>a, p.Trp221X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3001 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 944 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 221 Feature /change: W -> X Feature /domain: PK Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_#S225X235(1); standard; MUTATION; PK Accession K00755 Systematic name g.3012delA, c.673delA, r.673dela, p.Ser225fsX32 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [4] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3012 Feature /change: -a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 955 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 225 Feature /change: S -> VWPSRSSPRG MNSPGSGRLR SITQYCSDTT TSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Occurrence Families: 5; Patients: 7; Homozygotes: 0 Comment -!-Frameshift deletion. // ID ACVRL1_E236X(1); standard; MUTATION; PK Accession K00757 Systematic name g.3045G>T, c.706G>T, r.706g>u, p.Glu236X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3045 Feature /change: g -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 988 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 236 Feature /change: E -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@A307X393(1); standard; MUTATION; PK Accession K00758 Systematic name g.3898_3899insA, c.920_921insA, r.920_921insa, Systematic name p.Cys308fsX83 Description A frame shift insertion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: ACVRL1_DNA: 3899 Feature /change: +a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1203 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 307 Feature /change: A -> Feature /change: AMRPGAPARG DLRYTGQTSH CPPRLQEPQC AGQEQPAVLH Feature /change: RRPGPGCDAL TGQRLPGHRQ QPESGHQAVH GTRGAGRADP HGLLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID ACVRL1_V336V(1); standard; MUTATION; PK Accession K00759 Systematic name g.3986T>C, c.1008T>C, r.1008u>c, p.Val336Val Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3986 Feature /change: g -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1290 Feature /codon: gtg -> gtc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 336 Feature /change: V -> V Feature /domain: PK Occurrence Families: ; Patients: ; Homozygotes: // ID ACVRL1_C344R(1); standard; MUTATION; PK Accession K00760 Systematic name g.4008T>C, c.1030T>C, r.1030u>c, p.Cys344Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [11] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 RefNumber [20] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4008 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1312 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 344 Feature /change: C -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID ACVRL1_G350C(1); standard; MUTATION; PK Accession K00761 Systematic name g.4026G>T, c.1048G>T, r.1048g>u, p.Gly350Cys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4026 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1330 Feature /codon: ggc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 350 Feature /change: G -> C Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 3; Homozygotes: 0 Comment -!-Splice site Mutation // ID ACVRL1_G402D(1); standard; MUTATION; PK Accession K00762 Systematic name g.4718G>A, c.1205G>A, r.1205g>a, p.Gly402Asp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4718 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1487 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 402 Feature /change: G -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID ACVRL1_E379K(1); standard; MUTATION; PK Accession K00763 Systematic name g.4648G>A, c.1135G>A, r.1135g>a, p.Glu379Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 4) RefNumber [4] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [2] RefCrossRef PUBMED; 18498373 RefAuthors Brakensiek, K., Frye-Boukhriss, H., Malzer, M., RefAuthors Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, RefAuthors C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, RefAuthors K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., RefAuthors Stuhrmann, M. RefTitle Detection of a significant association between mutations RefTitle in the ACVRL1 gene and hepatic involvement in German RefTitle patients with hereditary haemorrhagic telangiectasia. RefLoc Clin Genet 74:171-7 RefNumber [12] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [5] RefCrossRef PUBMED; 15712270 RefAuthors Kuehl, H. K., Caselitz, M., Hasenkamp, S., Wagner, S., El- RefAuthors Harith, e. l. -. H. A., Manns, M. P., Stuhrmann, M. RefTitle Hepatic manifestation is associated with ALK1 in RefTitle hereditary hemorrhagic telangiectasia: identification of RefTitle five novel ALK1 and one novel ENG mutations. RefLoc Hum Mutat 25:320 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4648 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1417 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 379 Feature /change: E -> K Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID ACVRL1_R374Q(1); standard; MUTATION; PK Accession K00764 Systematic name g.4634G>A, c.1121G>A, r.1121g>a, p.Arg374Gln Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 6) RefNumber [5] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [5] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [6] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [11] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [12] RefCrossRef PUBMED; 12700602 RefAuthors Abdalla, S. A., Cymerman, U., Johnson, R. M., Deber, C. RefAuthors M., Letarte, M. RefTitle Disease-associated mutations in conserved residues of ALK- RefTitle 1 kinase domain. RefLoc Eur J Hum Genet 11:279-87 RefNumber [17] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4634 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1403 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 374 Feature /change: R -> Q Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID ACVRL1_Y421D(1); standard; MUTATION; PK Accession K00765 Systematic name g.7525T>G, c.1261T>G, r.1261u>g, p.Tyr421Asp Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7525 Feature /change: t -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1543 Feature /codon: tat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 421 Feature /change: Y -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ACVRL1_P449T(1); standard; MUTATION; PK Accession K00766 Systematic name g.7609C>A, c.1345C>A, r.1345c>a, p.Pro449Thr Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7609 Feature /change: c -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1627 Feature /codon: ccc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 449 Feature /change: P -> T Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R479X(1); standard; MUTATION; PK Accession K00767 Systematic name g.9342C>T, c.1435C>T, r.1435c>u, p.Arg479X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 7) RefNumber [8] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [2] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [15] RefCrossRef PUBMED; 15065824 RefAuthors Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. RefAuthors M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. RefAuthors H. RefTitle Primary pulmonary hypertension in families with hereditary RefTitle haemorrhagic telangiectasia. RefLoc Eur Respir J 23:373-7 RefNumber [16] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [8] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 RefNumber [11] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9342 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1717 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 479 Feature /change: R -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 4; Patients: 6; Homozygotes: 0 // ID ACVRL1_R484L(1); standard; MUTATION; PK Accession K00768 Systematic name g.9358C>T, c.1451C>T, r.1451c>u, p.Arg484Leu Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 30-May-2011 (Rel. 3, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9358 Feature /change: g -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1733 Feature /codon: cgg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 484 Feature /change: R -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: ; Patients: ; Homozygotes: // ID ACVRL1_R484W(1); standard; MUTATION; PK Accession K00769 Systematic name g.9357C>T, c.1450C>T, r.1450c>u, p.Arg484Trp Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-May-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 6) RefNumber [9] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [3] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [3] RefCrossRef PUBMED; 11484689 RefAuthors Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, RefAuthors N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, RefAuthors N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. RefAuthors W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., RefAuthors Wheeler, L. RefTitle Clinical and molecular genetic features of pulmonary RefTitle hypertension in patients with hereditary hemorrhagic RefTitle telangiectasia. RefLoc N Engl J Med 345:325-34 RefNumber [16] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [9] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9357 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1732 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 484 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 4; Patients: 8; Homozygotes: 0 // ID ACVRL1_S233X(1); standard; MUTATION; PK Accession K00770 Systematic name g.3037C>A, c.698C>A, r.698c>a, p.Ser233X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 31-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18498373 RefAuthors Brakensiek, K., Frye-Boukhriss, H., Malzer, M., RefAuthors Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, RefAuthors C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, RefAuthors K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., RefAuthors Stuhrmann, M. RefTitle Detection of a significant association between mutations RefTitle in the ACVRL1 gene and hepatic involvement in German RefTitle patients with hereditary haemorrhagic telangiectasia. RefLoc Clin Genet 74:171-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3037 Feature /change: c -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 980 Feature /codon: tcg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 233 Feature /change: S -> X Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_E407D(1); standard; MUTATION; PK Accession K00771 Systematic name g.4734G>T, c.1221G>T, r.1221g>u, p.Glu407Asp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18498373 RefAuthors Brakensiek, K., Frye-Boukhriss, H., Malzer, M., RefAuthors Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, RefAuthors C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, RefAuthors K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., RefAuthors Stuhrmann, M. RefTitle Detection of a significant association between mutations RefTitle in the ACVRL1 gene and hepatic involvement in German RefTitle patients with hereditary haemorrhagic telangiectasia. RefLoc Clin Genet 74:171-7 RefNumber [3] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4734 Feature /change: g -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1503 Feature /codon: gag -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 407 Feature /change: E -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_V442A(1); standard; MUTATION; PK Accession K00772 Systematic name g.7589T>C, c.1325T>C, r.1325u>c, p.Val442Ala Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 31-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18498373 RefAuthors Brakensiek, K., Frye-Boukhriss, H., Malzer, M., RefAuthors Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, RefAuthors C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, RefAuthors K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., RefAuthors Stuhrmann, M. RefTitle Detection of a significant association between mutations RefTitle in the ACVRL1 gene and hepatic involvement in German RefTitle patients with hereditary haemorrhagic telangiectasia. RefLoc Clin Genet 74:171-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7589 Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1607 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 442 Feature /change: V -> A Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R484L(2); standard; MUTATION; PK Accession K00773 Systematic name g.9358G>T, c.1451G>T, r.1451g>u, p.Arg484Leu Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 31-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18498373 RefAuthors Brakensiek, K., Frye-Boukhriss, H., Malzer, M., RefAuthors Abramowicz, M., Bahr, M. J., von Beckerath, N., Bergmann, RefAuthors C., Caselitz, M., Holinski-Feder, E., Muschke, P., Oexle, RefAuthors K., Strobl-Wildemann, G., Wolff, G., El-Harith, E. A., RefAuthors Stuhrmann, M. RefTitle Detection of a significant association between mutations RefTitle in the ACVRL1 gene and hepatic involvement in German RefTitle patients with hereditary haemorrhagic telangiectasia. RefLoc Clin Genet 74:171-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9358 Feature /change: g -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1733 Feature /codon: cgg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 484 Feature /change: R -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R411W(1); standard; MUTATION; PK Accession K00774 Systematic name g.4744C>T, c.1231C>T, r.1231c>u, p.Arg411Trp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 8) RefNumber [2] RefCrossRef PUBMED; 18607909 RefAuthors Sankelo, M., Halme, M., Laitinen, T., Mattila, P. S. RefTitle Hereditary hemorrhagic telangiectasia type 1 and 2 RefTitle mutations in Finland. RefLoc Acta Otolaryngol 128:1238-41 RefNumber [8] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 RefNumber [33] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 RefNumber [34] RefCrossRef PUBMED; 11484689 RefAuthors Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, RefAuthors N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, RefAuthors N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. RefAuthors W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., RefAuthors Wheeler, L. RefTitle Clinical and molecular genetic features of pulmonary RefTitle hypertension in patients with hereditary hemorrhagic RefTitle telangiectasia. RefLoc N Engl J Med 345:325-34 RefNumber [14] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [8] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 RefNumber [11] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4744 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1513 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 411 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 10; Patients: 16; Homozygotes: 0 // ID ACVRL1_#S232-1(1); standard; MUTATION; PK Accession K00775 Systematic name g.3035delC, c.696delC, r.696delc, p.Ser233fsX24 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 2, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 RefNumber [4] RefCrossRef PUBMED; 10767348 RefAuthors Abdalla, S. A., Pece-Barbara, N., Vera, S., Tapia, E., RefAuthors Paez, E., Bernabeu, C., Letarte, M. RefTitle Analysis of ALK-1 and endoglin in newborns from families RefTitle with hereditary hemorrhagic telangiectasia type 2. RefLoc Hum Mol Genet 9:1227-37 RefNumber [5] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3035 Feature /change: -c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 978 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 232 Feature /change: S -> SRGMNSPGSG RLRSITQYCS DTTTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVRL1_#A347-1(1); standard; MUTATION; PK Accession K00776 Systematic name g.4018delC, c.1040delC, r.1040delc, p.Asp348fsX5 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 31-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18607909 RefAuthors Sankelo, M., Halme, M., Laitinen, T., Mattila, P. S. RefTitle Hereditary hemorrhagic telangiectasia type 1 and 2 RefTitle mutations in Finland. RefLoc Acta Otolaryngol 128:1238-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 4018 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1322 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 347 Feature /change: A -> ATWAWLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P449L(1); standard; MUTATION; PK Accession K00777 Systematic name g.7610C>T, c.1346C>T, r.1346c>u, p.Pro449Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 31-May-2011 (Rel. 3, Created) Date 31-May-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 19508727 RefAuthors Sadick, H., Hage, J., Goessler, U., Stern-Straeter, J., RefAuthors Riedel, F., Hoermann, K., Bugert, P. RefTitle Mutation analysis of 'Endoglin' and 'Activin receptor-like RefTitle kinase' genes in German patients with hereditary RefTitle hemorrhagic telangiectasia and the value of rapid RefTitle genotyping using an allele-specific PCR-technique. RefLoc BMC Med Genet 10:53 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7610 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1628 Feature /codon: ccc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 449 Feature /change: P -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#L203X218(1); standard; MUTATION; PK Accession K00778 Systematic name g.138492delT, c.608delT, r.608delu, p.Leu203fsX5 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 19223935 RefAuthors Wang, H., Li, W., Zhang, W., Sun, K., Song, X., Gao, S., RefAuthors Zhang, C., Hui, R., Hu, H. RefTitle Novel promoter and exon mutations of the BMPR2 gene in RefTitle Chinese patients with pulmonary arterial hypertension. RefLoc Eur J Hum Genet 17:1063-9 RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 138492 Feature /change: -t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 989 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 203 Feature /change: L -> RNCWSX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_Q433X(1); standard; MUTATION; PK Accession K00779 Systematic name g.165857C>T, c.1297C>T, r.1297c>u, p.Gln433X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 18792970 RefAuthors Rigelsky, C. M., Jennings, C., Lehtonen, R., Minai, O. A., RefAuthors Eng, C., Aldred, M. A. RefTitle BMPR2 mutation in a patient with pulmonary arterial RefTitle hypertension and suspected hereditary hemorrhagic RefTitle telangiectasia. RefLoc Am J Med Genet A 146A:2551-6 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 165857 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1678 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 433 Feature /change: Q -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BMPR2_R321X(1); standard; MUTATION; PK Accession K00780 Systematic name g.143721C>T, c.961C>T, r.961c>u, p.Arg321X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [3] RefCrossRef PUBMED; 18503968 RefAuthors Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. RefAuthors K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, RefAuthors N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J. RefTitle Clinical implications of determining BMPR2 mutation status RefTitle in a large cohort of children and adults with pulmonary RefTitle arterial hypertension. RefLoc J Heart Lung Transplant 27:668-74 RefNumber [6] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [4] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [7] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143721 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1342 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 321 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 4; Patients: 6; Homozygotes: 0 // ID BMPR2_Y382X(1); standard; MUTATION; PK Accession K00781 Systematic name g.156128T>G, c.1146T>G, r.1146u>g, p.Tyr382X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 18503968 RefAuthors Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. RefAuthors K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, RefAuthors N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J. RefTitle Clinical implications of determining BMPR2 mutation status RefTitle in a large cohort of children and adults with pulmonary RefTitle arterial hypertension. RefLoc J Heart Lung Transplant 27:668-74 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156128 Feature /change: t -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1527 Feature /codon: tat -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 382 Feature /change: Y -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E224D(1); standard; MUTATION; PK Accession K00782 Systematic name g.142398G>T, c.672G>T, r.672g>u, p.Glu224Asp Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16121312 RefAuthors Elliott, C. G. RefTitle Genetics of pulmonary arterial hypertension: current and RefTitle future implications. RefLoc Semin Respir Crit Care Med 26:365-71 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142398 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1053 Feature /codon: gag -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 224 Feature /change: E -> D Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E369E(1); standard; MUTATION; PK Accession K00783 Systematic name g.154459A>G, c.1107A>G, r.1107a>g, p.Glu369Glu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16121312 RefAuthors Elliott, C. G. RefTitle Genetics of pulmonary arterial hypertension: current and RefTitle future implications. RefLoc Semin Respir Crit Care Med 26:365-71 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154459 Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1488 Feature /codon: gaa -> gag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 369 Feature /change: E -> E Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_M449R(1); standard; MUTATION; PK Accession K00784 Systematic name g.165906T>G, c.1346T>G, r.1346u>g, p.Met449Arg Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 16728714 RefAuthors Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. RefAuthors A., Robbins, I. M., Hedges, L. K., Stanton, K. C., RefAuthors Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. RefAuthors C. RefTitle High frequency of BMPR2 exonic deletions/duplications in RefTitle familial pulmonary arterial hypertension. RefLoc Am J Respir Crit Care Med 174:590-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 165906 Feature /change: t -> g Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1727 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 449 Feature /change: M -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#T268X278(1); standard; MUTATION; PK Accession K00785 Systematic name g.142530delT, c.804delT, r.804delu, p.Ala269fsX9 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16728714 RefAuthors Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. RefAuthors A., Robbins, I. M., Hedges, L. K., Stanton, K. C., RefAuthors Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. RefAuthors C. RefTitle High frequency of BMPR2 exonic deletions/duplications in RefTitle familial pulmonary arterial hypertension. RefLoc Am J Respir Crit Care Med 174:590-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 142530 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1185 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 268 Feature /change: T -> TQMDAWNICL X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_L291X(1); standard; MUTATION; PK Accession K00786 Systematic name g.143632delT, c.872delT, r.872delu, p.Leu291X Description A deletion mutation in the exon 7 leading to a premature Description stop codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16728714 RefAuthors Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. RefAuthors A., Robbins, I. M., Hedges, L. K., Stanton, K. C., RefAuthors Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. RefAuthors C. RefTitle High frequency of BMPR2 exonic deletions/duplications in RefTitle familial pulmonary arterial hypertension. RefLoc Am J Respir Crit Care Med 174:590-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 143632 Feature /change: -t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1253 Feature /codon: tta -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 291 Feature /change: L -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#R266X277(1); standard; MUTATION; PK Accession K00787 Systematic name g.142522delA, c.796delA, r.796dela, p.Arg266fsX12 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16728714 RefAuthors Cogan, J. D., Pauciulo, M. W., Batchman, A. P., Prince, M. RefAuthors A., Robbins, I. M., Hedges, L. K., Stanton, K. C., RefAuthors Wheeler, L. A., Phillips, J. A., Loyd, J. E., Nichols, W. RefAuthors C. RefTitle High frequency of BMPR2 exonic deletions/duplications in RefTitle familial pulmonary arterial hypertension. RefLoc Am J Respir Crit Care Med 174:590-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 142522 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1177 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 266 Feature /change: R -> ESLQMDAWNI CLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_W466X(1); standard; MUTATION; PK Accession K00788 Systematic name g.165957G>A, c.1397G>A, r.1397g>a, p.Trp466X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [9] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [5] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 RefNumber [7] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 165957 Feature /change: g -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1778 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 466 Feature /change: W -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID BMPR2_A490V(1); standard; MUTATION; PK Accession K00789 Systematic name g.176297C>T, c.1469C>T, r.1469c>u, p.Ala490Val Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [10] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176297 Feature /change: c -> t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1850 Feature /codon: gct -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 490 Feature /change: A -> V Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_#R459X469(2); standard; MUTATION; PK Accession K00790 Systematic name g.165936delG, c.1376delG, r.1376delg, p.Arg459fsX14 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [14] RefCrossRef PUBMED; 15965979 RefAuthors Sankelo, M., Flanagan, J. A., Machado, R., Harrison, R., RefAuthors Rudarakanchana, N., Morrell, N., Dixon, M., Halme, M., RefAuthors Puolijoki, H., Kere, J., Elomaa, O., Kupari, M., Raisanen- RefAuthors Sokolowski, A., Trembath, R. C., Laitinen, T. RefTitle BMPR2 mutations have short lifetime expectancy in primary RefTitle pulmonary hypertension. RefLoc Hum Mutat 26:119-24 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 165936 Feature /change: -g Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1757 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 459 Feature /change: R -> NPSSQKPGKK IAWQX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID DDR2_R752C(1); standard; MUTATION; PK Accession K00791 Systematic name g.144877C>T, c.2254C>T, r.2254c>u, p.Arg752Cys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [15] RefCrossRef PUBMED; 20223752 RefAuthors Ali, B. R., Xu, H., Akawi, N. A., John, A., Karuvantevida, RefAuthors N. S., Langer, R., Al-Gazali, L., Leitinger, B. RefTitle Trafficking defects and loss of ligand binding are the RefTitle underlying causes of all reported DDR2 missense mutations RefTitle found in SMED-SL patients. RefLoc Hum Mol Genet 19:2239-50 RefNumber [17] RefCrossRef PUBMED; 19110212 RefAuthors Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, RefAuthors M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., RefAuthors Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A. RefTitle Mutations in DDR2 gene cause SMED with short limbs and RefTitle abnormal calcifications. RefLoc Am J Hum Genet 84:80-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: DDR2_DNA: 144877 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X74764; GI:2497564; X74764: 2607 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: DDR2_HUMAN: 752 Feature /change: R -> C Feature /domain: PK Diagnosis Insensitivity to pain Occurrence Families: 6; Patients: 8; Homozygotes: 0 // ID DDR2_I726R(1); standard; MUTATION; PK Accession K00792 Systematic name g.144800T>G, c.2177T>G, r.2177u>g, p.Ile726Arg Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [17] RefCrossRef PUBMED; 19110212 RefAuthors Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, RefAuthors M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., RefAuthors Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A. RefTitle Mutations in DDR2 gene cause SMED with short limbs and RefTitle abnormal calcifications. RefLoc Am J Hum Genet 84:80-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: DDR2_DNA: 144800 Feature /change: t -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X74764; GI:2497564; X74764: 2530 Feature /codon: ata -> aga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: DDR2_HUMAN: 726 Feature /change: I -> R Feature /domain: PK Diagnosis Insensitivity to pain Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID DDR2_T713I(1); standard; MUTATION; PK Accession K00793 Systematic name g.144761C>T, c.2138C>T, r.2138c>u, p.Thr713Ile Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 19110212 RefAuthors Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, RefAuthors M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., RefAuthors Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A. RefTitle Mutations in DDR2 gene cause SMED with short limbs and RefTitle abnormal calcifications. RefLoc Am J Hum Genet 84:80-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: DDR2_DNA: 144761 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X74764; GI:2497564; X74764: 2491 Feature /codon: aca -> ata; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: DDR2_HUMAN: 713 Feature /change: T -> I Feature /domain: PK Diagnosis Insensitivity to pain Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PHKG2_#H48X52(1); standard; MUTATION; PK Accession K00794 Systematic name g.3753delC, c.144delC, r.144delc, p.His48fsX4 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 07-Jun-2011 (Rel. 3, Created) Date 07-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 17689125 RefAuthors Beauchamp, N. J., Dalton, A., Ramaswami, U., Niinikoski, RefAuthors H., Mention, K., Kenny, P., Kolho, K. L., Raiman, J., RefAuthors Walter, J., Treacy, E., Tanner, S., Sharrard, M. RefTitle Glycogen storage disease type IX: High variability in RefTitle clinical phenotype. RefLoc Mol Genet Metab 92:88-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: PHKG2_DNA: 3753 Feature /change: -c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: M31606; GI:125536; HSPHK: 237 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KPBH_HUMAN: 48 Feature /change: H -> QSLRX Feature /domain: PK Diagnosis Deficiency of liver phosphorylase kinase and cirrhosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PAK3_W446S(1); standard; MUTATION; PK Accession K00795 Systematic name g.74467G>C, c.1337G>C, r.1337g>c, p.Trp446Ser Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17853471 RefAuthors Peippo, M., Koivisto, A. M., Sarkamo, T., Sipponen, M., RefAuthors von Koskull, H., Ylisaukko-oja, T., Rehnstrom, K., Froyen, RefAuthors G., Ignatius, J., Jarvela, I. RefTitle PAK3 related mental disability: further characterization RefTitle of the phenotype. RefLoc Am J Med Genet A 143A:2406-16 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: PAK3_DNA: 74467 Feature /change: g -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF068864; GI:6174887; AF068864: 1337 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PAK3_HUMAN: 446 Feature /change: W -> S Feature /domain: PK Diagnosis X-linked nonsyndromic mental retardation (MRX) Occurrence Families: 1; Patients: 5; Homozygotes: // ID RHOK_S205X(1); standard; MUTATION; PK Accession K00796 Systematic name g.722C>A, c.614C>A, r.614c>a, p.Ser205X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19753316 RefAuthors Azam, M., Collin, R. W., Khan, M. I., Shah, S. T., RefAuthors Qureshi, N., Ajmal, M., den Hollander, A. I., Qamar, R., RefAuthors Cremers, F. P. RefTitle A novel mutation in GRK1 causes Oguchi disease in a RefTitle consanguineous Pakistani family. RefLoc Mol Vis 15:1788-93 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 722 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: U63973; GI:2833269; U63973: 722 Feature /codon: tcg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RK_HUMAN: 205 Feature /change: S -> X Feature /domain: PK Diagnosis Oguchi disease Occurrence Families: 1; Patients: 9; Homozygotes: 9 // ID RHOK_P391H(1); standard; MUTATION; PK Accession K00797 Systematic name g.1280C>A, c.1172C>A, r.1172c>a, p.Pro391His Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 17070587 RefAuthors Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., RefAuthors Kitahara, K. RefTitle A novel homozygous GRK1 mutation (P391H) in 2 siblings RefTitle with Oguchi disease with markedly reduced cone responses. RefLoc Ophthalmology 114:134-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RHOK_DNA: 1280 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U63973; GI:2833269; U63973: 1280 Feature /codon: ccc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RK_HUMAN: 391 Feature /change: P -> H Feature /domain: PK Diagnosis Oguchi disease Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID RHOK_#R536X543(1); standard; MUTATION; Accession K00798 Systematic name g.1715delC, c.1607delC, r.1607delc, p.Arg536fsX8 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 2, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 17070587 RefAuthors Hayashi, T., Gekka, T., Takeuchi, T., Goto-Omoto, S., RefAuthors Kitahara, K. RefTitle A novel homozygous GRK1 mutation (P391H) in 2 siblings RefTitle with Oguchi disease with markedly reduced cone responses. RefLoc Ophthalmology 114:134-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: RHOK_DNA: 1715 Feature /change: -c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U63973; GI:2833269; U63973: 1715 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: RK_HUMAN: 536 Feature /change: S -> WTVRCRTTX Diagnosis Oguchi disease Occurrence Families: 4; Patients: 5; Homozygotes: 0 // ID RPS6KA3_#V435X449(1); standard; MUTATION; PK2 Accession K00799 Systematic name g.95305delG, c.1303delG, r.1303delg, p.Val435fsX15 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95305 Feature /change: -g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1303 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 435 Feature /change: V -> FARDVYIKLQ TWSLQX Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_K451X(1); standard; MUTATION; PK2 Accession K00800 Systematic name g.95353A>T, c.1351A>T, r.1351a>u, p.Lys451X Description A point mutation in the exon 15 leading to a premature stop Description codon in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 95353 Feature /change: a -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1351 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 451 Feature /change: K -> X Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_L468P(1); standard; MUTATION; PK2 Accession K00801 Systematic name g.98659T>C, c.1403T>C, r.1403u>c, p.Leu468Pro Description A point mutation in the exon 16 leading to an amino acid Description change in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98659 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1403 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 468 Feature /change: L -> P Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#I476-1(1); standard; MUTATION; PK2 Accession K00802 Systematic name g.98684delT, c.1428delT, r.1428delu, p.Ile477fsX2 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 98684 Feature /change: -t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1428 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 476 Feature /change: I -> ISLX Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#Y488X499(1); standard; MUTATION; PK2 Accession K00803 Systematic name g.100373delA, c.1463delA, r.1463dela, p.Tyr488fsX3 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 100373 Feature /change: -a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1463 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 488 Feature /change: Y -> LCMX Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_C560R(1); standard; MUTATION; PK2 Accession K00804 Systematic name g.103116T>C, c.1678T>C, r.1678u>c, p.Cys560Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103116 Feature /change: t -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1678 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 560 Feature /change: C -> R Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_C599Y(1); standard; MUTATION; PK2 Accession K00805 Systematic name g.105092G>A, c.1796G>A, r.1796g>a, p.Cys599Tyr Description A point mutation in the exon 19 leading to an amino acid Description change in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 105092 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1796 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 599 Feature /change: C -> Y Feature /domain: PK2 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_L655P(1); standard; MUTATION; PK2 Accession K00806 Systematic name g.111856T>C, c.1964T>C, r.1964u>c, p.Leu655Pro Description A point mutation in the exon 21 leading to an amino acid Description change in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 111856 Feature /change: t -> c Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1964 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 655 Feature /change: L -> P Feature /domain: PK2 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_R667S(1); standard; MUTATION; PK2 Accession K00807 Systematic name g.111893A>T, c.2001A>T, r.2001a>u, p.Arg667Ser Description A point mutation in the exon 21 leading to an amino acid Description change in the PK2 domain Date 08-Jun-2011 (Rel. 3, Created) Date 08-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 111893 Feature /change: a -> t Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 2001 Feature /codon: aga -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 667 Feature /change: R -> S Feature /domain: PK2 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TEK_Y897C(1); standard; MUTATION; PK Accession K00808 Systematic name g.55887A>G, c.2690A>G, r.2690a>g, p.Tyr897Cys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 RefNumber [2] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 RefNumber [4] RefCrossRef PUBMED; 19079259 RefAuthors Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., RefAuthors Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., RefAuthors Vikkula, M. RefTitle Somatic mutations in angiopoietin receptor gene TEK cause RefTitle solitary and multiple sporadic venous malformations. RefLoc Nat Genet 41:118-24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55887 Feature /change: a -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838 Feature /codon: tac -> tgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 897 Feature /change: Y -> C Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 3; Patients: 5; Homozygotes: 0 // ID TEK_R915H(1); standard; MUTATION; PK Accession K00809 Systematic name g.55941G>A, c.2744G>A, r.2744g>a, p.Arg915His Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55941 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2892 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 915 Feature /change: R -> H Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID TEK_R918C(1); standard; MUTATION; PK Accession K00810 Systematic name g.55949C>T, c.2752C>T, r.2752c>u, p.Arg918Cys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55949 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2900 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 918 Feature /change: R -> C Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID TEK_V919L(1); standard; MUTATION; PK Accession K00811 Systematic name g.55952G>T, c.2755G>T, r.2755g>u, p.Val919Leu Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55952 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2903 Feature /codon: gtg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 919 Feature /change: V -> L Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TEK_A925S(1); standard; MUTATION; PK Accession K00812 Systematic name g.55970G>T, c.2773G>T, r.2773g>u, p.Ala925Ser Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19888299 RefAuthors Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, RefAuthors L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, RefAuthors J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., RefAuthors Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., RefAuthors Rieu, P., Vikkula, M. RefTitle Hereditary cutaneomucosal venous malformations are caused RefTitle by TIE2 mutations with widely variable hyper- RefTitle phosphorylating effects. RefLoc Eur J Hum Genet 18:414-20 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55970 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2921 Feature /codon: gca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 925 Feature /change: A -> S Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MERTK_#C738X769(1); standard; MUTATION; PK Accession K00813 Systematic name g.123711delT, c.2214delT, r.2214delu, p.Cys738fsX31 Description A frame shift deletion mutation in the exon 17 leading to a Description premature stop codon in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16714263 RefAuthors Tschernutter, M., Jenkins, S. A., Waseem, N. H., Saihan, RefAuthors Z., Holder, G. E., Bird, A. C., Bhattacharya, S. S., Ali, RefAuthors R. R., Webster, A. R. RefTitle Clinical characterisation of a family with retinal RefTitle dystrophy caused by mutation in the Mertk gene. RefLoc Br J Ophthalmol 90:718-23 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: MERTK_DNA: 123711 Feature /change: -t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: U08023; GI:10720097; HS08023: 2351 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: MERK_HUMAN: 738 Feature /change: C -> WLRTSASLRR FTVAIITAKA ALLRCLLNGS PX Feature /domain: PK Occurrence Families: 1; Patients: 4; Homozygotes: 4 // ID BMPR2_E243K(1); standard; MUTATION; PK Accession K00814 Systematic name g.142453G>A, c.727G>A, r.727g>a, p.Glu243Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142453 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1108 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 243 Feature /change: E -> K Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_V348I(1); standard; MUTATION; PK Accession K00815 Systematic name g.154394G>A, c.1042G>A, r.1042g>a, p.Val348Ile Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154394 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1423 Feature /codon: gtt -> att; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 348 Feature /change: V -> I Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_M356L(1); standard; MUTATION; PK Accession K00816 Systematic name g.154418A>T, c.1066A>T, r.1066a>u, p.Met356Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154418 Feature /change: a -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1447 Feature /codon: atg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 356 Feature /change: M -> L Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E386V(1); standard; MUTATION; PK Accession K00817 Systematic name g.156139A>T, c.1157A>T, r.1157a>u, p.Glu386Val Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156139 Feature /change: a -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1538 Feature /codon: gaa -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 386 Feature /change: E -> V Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_V392A(1); standard; MUTATION; PK Accession K00818 Systematic name g.156157T>C, c.1175T>C, r.1175u>c, p.Val392Ala Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156157 Feature /change: t -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1556 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 392 Feature /change: V -> A Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E415X(1); standard; MUTATION; PK Accession K00819 Systematic name g.156225G>T, c.1243G>T, r.1243g>u, p.Glu415X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156225 Feature /change: g -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1624 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 415 Feature /change: E -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_N202Y(1); standard; MUTATION; Accession K00820 Systematic name g.138488A>T, c.604A>T, r.604a>u, p.Asn202Tyr Description A point mutation in the exon 5 leading to an amino acid Description change Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 138488 Feature /change: a -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 985 Feature /codon: aat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 202 Feature /change: N -> Y Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#R259X261(1); standard; MUTATION; PK Accession K00822 Systematic name g.142501delC, c.775delC, r.775delc, p.Arg259fsX2 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 142501 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1156 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 259 Feature /change: R -> ALX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_#K204X208(1); standard; MUTATION; PK Accession K00823 Systematic name g.138496delA, c.612delA, r.612dela, p.Lys204fsX4 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 138496 Feature /change: -a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 993 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 204 Feature /change: K -> NCWSX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_L277P(1); standard; MUTATION; PK Accession K00824 Systematic name g.142556T>C, c.830T>C, r.830u>c, p.Leu277Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 09-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142556 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1211 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 277 Feature /change: L -> P Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_S301P(1); standard; MUTATION; PK Accession K00825 Systematic name g.143661T>C, c.901T>C, r.901u>c, p.Ser301Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [5] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143661 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1282 Feature /codon: tct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 301 Feature /change: S -> P Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID BMPR2_R310X(1); standard; MUTATION; PK Accession K00826 Systematic name g.143688A>T, c.928A>T, r.928a>u, p.Arg310X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 09-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143688 Feature /change: a -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1309 Feature /codon: aga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 310 Feature /change: R -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_L334X(1); standard; MUTATION; PK Accession K00827 Systematic name g.154353T>G, c.1001T>G, r.1001u>g, p.Leu334X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154353 Feature /change: t -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1382 Feature /codon: tta -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 334 Feature /change: L -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_L340P(1); standard; MUTATION; PK Accession K00828 Systematic name g.154371T>C, c.1019T>C, r.1019u>c, p.Leu340Pro Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154371 Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1400 Feature /codon: cta -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 340 Feature /change: L -> P Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_A391T(1); standard; MUTATION; PK Accession K00829 Systematic name g.156153G>A, c.1171G>A, r.1171g>a, p.Ala391Thr Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156153 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1552 Feature /codon: gct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 391 Feature /change: A -> T Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_#E464X473(1); standard; MUTATION; PK Accession K00830 Systematic name g.165952delA, c.1392delA, r.1392dela, p.Ala465fsX8 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 165952 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1773 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 464 Feature /change: E -> EPGKKIAWQX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_#K467X473(1); standard; MUTATION; PK Accession K00831 Systematic name g.165959delA, c.1399delA, r.1399dela, p.Glu468fsX5 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 165959 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1780 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 467 Feature /change: K -> KKIAWQX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR1A_Q353X(1); standard; MUTATION; PK Accession K00832 Systematic name g.163713C>T, c.1057C>T, r.1057c>u, p.Gln353X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16152648 RefAuthors Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, RefAuthors M., Flejou, J. F., Thomas, G., Olschwang, S. RefTitle Vessels' morphology in SMAD4 and BMPR1A-related juvenile RefTitle polyposis. RefLoc Am J Med Genet A 138A:113-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163713 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1366 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 353 Feature /change: Q -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#I449X497(1); standard; MUTATION; PK Accession K00833 Systematic name g.167733delC, c.1347delC, r.1347delc, p.Ile449fsX48 Description A frame shift deletion mutation in the exon 12 leading to a Description premature stop codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16152648 RefAuthors Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, RefAuthors M., Flejou, J. F., Thomas, G., Olschwang, S. RefTitle Vessels' morphology in SMAD4 and BMPR1A-related juvenile RefTitle polyposis. RefLoc Am J Med Genet A 138A:113-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 167733 Feature /change: -c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1656 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 449 Feature /change: I -> Feature /change: MWKNTNCHIT TWYRVIRHTK ICVRLCVSNV CGQLCLIGGT Feature /change: VMNVYEQFX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_L497X(1); standard; MUTATION; PK Accession K00834 Systematic name g.167963delT, c.1490delT, r.1490delu, p.Leu497X Description A deletion mutation in the exon 13 leading to a premature Description stop codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 16152648 RefAuthors Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, RefAuthors M., Flejou, J. F., Thomas, G., Olschwang, S. RefTitle Vessels' morphology in SMAD4 and BMPR1A-related juvenile RefTitle polyposis. RefLoc Am J Med Genet A 138A:113-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 167963 Feature /change: -t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1799 Feature /codon: ttg -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 497 Feature /change: L -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR1A_E411K(1); standard; MUTATION; PK Accession K00835 Systematic name g.165937G>A, c.1231G>A, r.1231g>a, p.Glu411Lys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 16436638 RefAuthors Pyatt, R. E., Pilarski, R., Prior, T. W. RefTitle Mutation screening in juvenile polyposis syndrome. RefLoc J Mol Diagn 8:84-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 165937 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1540 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 411 Feature /change: E -> K Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_Y425X(1); standard; MUTATION; PK Accession K00836 Systematic name g.165981C>A, c.1275C>A, r.1275c>a, p.Tyr425X Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 16436638 RefAuthors Pyatt, R. E., Pilarski, R., Prior, T. W. RefTitle Mutation screening in juvenile polyposis syndrome. RefLoc J Mol Diagn 8:84-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 165981 Feature /change: c -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1584 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 425 Feature /change: Y -> X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#K518-1(1); standard; MUTATION; PK Accession K00837 Systematic name g.168025delA, c.1552delA, r.1552dela, p.Lys518fsX12 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 16436638 RefAuthors Pyatt, R. E., Pilarski, R., Prior, T. W. RefTitle Mutation screening in juvenile polyposis syndrome. RefLoc J Mol Diagn 8:84-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 168025 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1861 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 518 Feature /change: K -> RRRLPRWLNP KMX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_S337X(1); standard; MUTATION; PK Accession K00838 Systematic name g.163666C>G, c.1010C>G, r.1010c>g, p.Ser337X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12136244 RefAuthors Friedl, W., Uhlhaas, S., Schulmann, K., Stolte, M., Loff, RefAuthors S., Back, W., Mangold, E., Stern, M., Knaebel, H. P., RefAuthors Sutter, C., Weber, R. G., Pistorius, S., Burger, B., RefAuthors Propping, P. RefTitle Juvenile polyposis: massive gastric polyposis is more RefTitle common in MADH4 mutation carriers than in BMPR1A mutation RefTitle carriers. RefLoc Hum Genet 111:108-11 RefNumber [2] RefCrossRef PUBMED; 17873119 RefAuthors Aretz, S., Stienen, D., Uhlhaas, S., Stolte, M., Entius, RefAuthors M. M., Loff, S., Back, W., Kaufmann, A., Keller, K. M., RefAuthors Blaas, S. H., Siebert, R., Vogt, S., Spranger, S., RefAuthors Holinski-Feder, E., Sunde, L., Propping, P., Friedl, W. RefTitle High proportion of large genomic deletions and a genotype RefTitle phenotype update in 80 unrelated families with juvenile RefTitle polyposis syndrome. RefLoc J Med Genet 44:702-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163666 Feature /change: c -> g Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1319 Feature /codon: tca -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 337 Feature /change: S -> X Feature /domain: PK Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR1A_Y245X(1); standard; MUTATION; PK Accession K00839 Systematic name g.161546T>A, c.735T>A, r.735u>a, p.Tyr245X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18262054 RefAuthors Howe, J. R., Chinnathambi, S., Calva, D., Bair, J., RefAuthors Pechman, B., Salamon, A., Tam, B., Simon, L. RefTitle A family with two consecutive nonsense mutations in BMPR1A RefTitle causing juvenile polyposis. RefLoc Cancer Genet Cytogenet 181:52-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161546 Feature /change: t -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1044 Feature /codon: tat -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 245 Feature /change: Y -> X Feature /domain: PK Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BMPR1A_G246X(1); standard; MUTATION; PK Accession K00840 Systematic name g.161547G>T, c.736G>T, r.736g>u, p.Gly246X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18262054 RefAuthors Howe, J. R., Chinnathambi, S., Calva, D., Bair, J., RefAuthors Pechman, B., Salamon, A., Tam, B., Simon, L. RefTitle A family with two consecutive nonsense mutations in BMPR1A RefTitle causing juvenile polyposis. RefLoc Cancer Genet Cytogenet 181:52-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161547 Feature /change: g -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1045 Feature /codon: gga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 246 Feature /change: G -> X Feature /domain: PK Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID BMPR1A_R254H(1); standard; MUTATION; PK Accession K00841 Systematic name g.161572G>A, c.761G>A, r.761g>a, p.Arg254His Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 10-Jun-2011 (Rel. 3, Created) Date 10-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18823382 RefAuthors Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, RefAuthors J., Larsen-Haidle, J., Howe, J. R. RefTitle The rate of germline mutations and large deletions of RefTitle SMAD4 and BMPR1A in juvenile polyposis. RefLoc Clin Genet 75:79-85 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 161572 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1070 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 254 Feature /change: R -> H Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_W239X(1); standard; MUTATION; PK Accession K00842 Systematic name g.3055G>A, c.716G>A, r.716g>a, p.Trp239X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 13-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16690726 RefAuthors Prigoda, N. L., Savas, S., Abdalla, S. A., Piovesan, B., RefAuthors Rushlow, D., Vandezande, K., Zhang, E., Ozcelik, H., RefAuthors Gallie, B. L., Letarte, M. RefTitle Hereditary haemorrhagic telangiectasia: mutation RefTitle detection, test sensitivity and novel mutations. RefLoc J Med Genet 43:722-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3055 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 998 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 239 Feature /change: W -> X Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A352D(1); standard; MUTATION; PK Accession K00843 Systematic name g.4568C>A, c.1055C>A, r.1055c>a, p.Ala352Asp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 16690726 RefAuthors Prigoda, N. L., Savas, S., Abdalla, S. A., Piovesan, B., RefAuthors Rushlow, D., Vandezande, K., Zhang, E., Ozcelik, H., RefAuthors Gallie, B. L., Letarte, M. RefTitle Hereditary haemorrhagic telangiectasia: mutation RefTitle detection, test sensitivity and novel mutations. RefLoc J Med Genet 43:722-8 RefNumber [3] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4568 Feature /change: c -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1337 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 352 Feature /change: A -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID ACVRL1_Q237K(1); standard; MUTATION; PK Accession K00844 Systematic name g.3048C>A, c.709C>A, r.709c>a, p.Gln237Lys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 13-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3048 Feature /change: c -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 991 Feature /codon: cag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 237 Feature /change: Q -> K Feature /domain: PK Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID ACVRL1_L289P(1); standard; MUTATION; PK Accession K00845 Systematic name g.3844T>C, c.866T>C, r.866u>c, p.Leu289Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 13-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3844 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1148 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 289 Feature /change: L -> P Feature /domain: PK Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ACVRL1_#H253-1(1); standard; MUTATION; PK Accession K00846 Systematic name g.3098delC, c.759delC, r.759delc, p.His253fsX4 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [2] RefCrossRef PUBMED; 11484689 RefAuthors Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, RefAuthors N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, RefAuthors N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. RefAuthors W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., RefAuthors Wheeler, L. RefTitle Clinical and molecular genetic features of pulmonary RefTitle hypertension in patients with hereditary hemorrhagic RefTitle telangiectasia. RefLoc N Engl J Med 345:325-34 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3098 Feature /change: -c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1041 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 253 Feature /change: H -> QTTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID ACVRL1_G309S(1); standard; MUTATION; PK Accession K00847 Systematic name g.3903G>A, c.925G>A, r.925g>a, p.Gly309Ser Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 13-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3903 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1207 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 309 Feature /change: G -> S Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_C344Y(1); standard; MUTATION; PK Accession K00848 Systematic name g.4009G>A, c.1031G>A, r.1031g>a, p.Cys344Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [3] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [2] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [34] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 RefNumber [6] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4009 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1313 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 344 Feature /change: C -> Y Feature /domain: PK Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 6; Patients: 8; Homozygotes: 0 // ID ACVRL1_G350R(1); standard; MUTATION; PK Accession K00849 Systematic name g.4026G>C, c.1048G>C, r.1048g>c, p.Gly350Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 13-Jun-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4026 Feature /change: g -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1330 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 350 Feature /change: G -> R Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_M376V(1); standard; MUTATION; PK Accession K00850 Systematic name g.4639A>G, c.1126A>G, r.1126a>g, p.Met376Val Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [11] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [6] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4639 Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1408 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 376 Feature /change: M -> V Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 6; Homozygotes: 0 // ID ACVRL1_R411P(1); standard; MUTATION; PK Accession K00851 Systematic name g.4745G>C, c.1232G>C, r.1232g>c, p.Arg411Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [11] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [14] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 RefNumber [7] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4745 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1514 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 411 Feature /change: R -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 7; Homozygotes: 0 // ID ACVRL1_R479Q(1); standard; MUTATION; PK Accession K00852 Systematic name g.9343G>A, c.1436G>A, r.1436g>a, p.Arg479Gln Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 8) RefNumber [1] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 RefNumber [2] RefCrossRef PUBMED; 17384219 RefAuthors Gedge, F., McDonald, J., Phansalkar, A., Chou, L. S., RefAuthors Calderon, F., Mao, R., Lyon, E., Bayrak-Toydemir, P. RefTitle Clinical and analytical sensitivities in hereditary RefTitle hemorrhagic telangiectasia testing and a report of de novo RefTitle mutations. RefLoc J Mol Diagn 9:258-65 RefNumber [3] RefCrossRef PUBMED; 18159113 RefAuthors Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., RefAuthors Furutani, M., Imamura, S., Uehara, R., Nakayama, T., RefAuthors Takao, A., Nakazawa, M., Saji, T. RefTitle Implications of mutations of activin receptor-like kinase RefTitle 1 gene (ALK1) in addition to bone morphogenetic protein RefTitle receptor II gene (BMPR2) in children with pulmonary RefTitle arterial hypertension. RefLoc Circ J 72:127-33 RefNumber [19] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [27] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 RefNumber [29] RefCrossRef PUBMED; 18285823 RefAuthors Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, RefAuthors F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, RefAuthors F., Calender, A., Danesino, C., Giraud, S., Plauchu, RefAuthors H., , . RefTitle Hereditary hemorrhagic telangiectasia: evidence for RefTitle regional founder effects of ACVRL1 mutations in French and RefTitle Italian patients. RefLoc Eur J Hum Genet 16:742-9 RefNumber [18] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 RefNumber [8] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9343 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 479 Feature /change: R -> Q Feature /domain: PK Diagnosis Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 6; Patients: 6; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_R484Q(1); standard; MUTATION; PK Accession K00853 Systematic name g.9358G>A, c.1451G>A, r.1451g>a, p.Arg484Gln Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 18159113 RefAuthors Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., RefAuthors Furutani, M., Imamura, S., Uehara, R., Nakayama, T., RefAuthors Takao, A., Nakazawa, M., Saji, T. RefTitle Implications of mutations of activin receptor-like kinase RefTitle 1 gene (ALK1) in addition to bone morphogenetic protein RefTitle receptor II gene (BMPR2) in children with pulmonary RefTitle arterial hypertension. RefLoc Circ J 72:127-33 RefNumber [17] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [14] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 RefNumber [4] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9358 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1733 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 484 Feature /change: R -> Q Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 4; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_L381P(1); standard; MUTATION; PK Accession K00854 Systematic name g.4655T>C, c.1142T>C, r.1142u>c, p.Leu381Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 18159113 RefAuthors Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., RefAuthors Furutani, M., Imamura, S., Uehara, R., Nakayama, T., RefAuthors Takao, A., Nakazawa, M., Saji, T. RefTitle Implications of mutations of activin receptor-like kinase RefTitle 1 gene (ALK1) in addition to bone morphogenetic protein RefTitle receptor II gene (BMPR2) in children with pulmonary RefTitle arterial hypertension. RefLoc Circ J 72:127-33 RefNumber [17] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [14] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 RefNumber [4] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4655 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1424 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 381 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_H312Q(1); standard; MUTATION; PK Accession K00855 Systematic name g.3914C>G, c.936C>G, r.936c>g, p.His312Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 18159113 RefAuthors Fujiwara, M., Yagi, H., Matsuoka, R., Akimoto, K., RefAuthors Furutani, M., Imamura, S., Uehara, R., Nakayama, T., RefAuthors Takao, A., Nakazawa, M., Saji, T. RefTitle Implications of mutations of activin receptor-like kinase RefTitle 1 gene (ALK1) in addition to bone morphogenetic protein RefTitle receptor II gene (BMPR2) in children with pulmonary RefTitle arterial hypertension. RefLoc Circ J 72:127-33 RefNumber [17] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [3] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3914 Feature /change: c -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1218 Feature /codon: cac -> cag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 312 Feature /change: H -> Q Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_T277K(1); standard; MUTATION; PK Accession K00856 Systematic name g.3808C>A, c.830C>A, r.830c>a, p.Thr277Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3808 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1112 Feature /codon: acg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 277 Feature /change: T -> K Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-In the article it is written that the mutation is 831C>A, Comment -!-but it seems that this is just printing mistake. So here it Comment -!-is corrected. // ID ACVRL1_W217G(1); standard; MUTATION; PK Accession K00857 Systematic name g.2988T>G, c.649T>G, r.649u>g, p.Trp217Gly Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 2988 Feature /change: t -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 931 Feature /codon: tgg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 217 Feature /change: W -> G Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_V226E(1); standard; MUTATION; PK Accession K00858 Systematic name g.3016T>A, c.677T>A, r.677u>a, p.Val226Glu Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3016 Feature /change: t -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 959 Feature /codon: gtg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 226 Feature /change: V -> E Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_H280R(1); standard; MUTATION; PK Accession K00859 Systematic name g.3817A>G, c.839A>G, r.839a>g, p.His280Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3817 Feature /change: a -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1121 Feature /codon: cac -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 280 Feature /change: H -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L294R(1); standard; MUTATION; PK Accession K00860 Systematic name g.3859T>G, c.881T>G, r.881u>g, p.Leu294Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3859 Feature /change: t -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1163 Feature /codon: ctg -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 294 Feature /change: L -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_H328Q(1); standard; MUTATION; PK Accession K00861 Systematic name g.3962C>A, c.984C>A, r.984c>a, p.His328Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3962 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1266 Feature /codon: cac -> caa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 328 Feature /change: H -> Q Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_N335H(1); standard; MUTATION; PK Accession K00862 Systematic name g.3981A>C, c.1003A>C, r.1003a>c, p.Asn335His Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3981 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1285 Feature /codon: aat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 335 Feature /change: N -> H Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L342P(1); standard; MUTATION; PK Accession K00863 Systematic name g.4003T>C, c.1025T>C, r.1025u>c, p.Leu342Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4003 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1307 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 342 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A347D(1); standard; MUTATION; PK Accession K00864 Systematic name g.4018C>A, c.1040C>A, r.1040c>a, p.Ala347Asp Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4018 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1322 Feature /codon: gcc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 347 Feature /change: A -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P378S(1); standard; MUTATION; PK Accession K00865 Systematic name g.4645C>T, c.1132C>T, r.1132c>u, p.Pro378Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4645 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1414 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 378 Feature /change: P -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A400T(1); standard; MUTATION; PK Accession K00866 Systematic name g.4711G>A, c.1198G>A, r.1198g>a, p.Ala400Thr Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4711 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1480 Feature /codon: gcc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 400 Feature /change: A -> T Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P424R(1); standard; MUTATION; PK Accession K00867 Systematic name g.7535C>G, c.1271C>G, r.1271c>g, p.Pro424Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7535 Feature /change: c -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1553 Feature /codon: ccc -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 424 Feature /change: P -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P449S(1); standard; MUTATION; PK Accession K00868 Systematic name g.7609C>T, c.1345C>T, r.1345c>u, p.Pro449Ser Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7609 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1627 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 449 Feature /change: P -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R479P(1); standard; MUTATION; PK Accession K00869 Systematic name g.9343G>C, c.1436G>C, r.1436g>c, p.Arg479Pro Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 RefNumber [2] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9343 Feature /change: g -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718 Feature /codon: cga -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 479 Feature /change: R -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Idiopathic pulmonary arterial hypertension(IPAH) // ID ACVRL1_K486E(1); standard; MUTATION; PK Accession K00870 Systematic name g.9363A>G, c.1456A>G, r.1456a>g, p.Lys486Glu Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9363 Feature /change: a -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1738 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 486 Feature /change: K -> E Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_E215X(1); standard; MUTATION; PK Accession K00871 Systematic name g.2982G>T, c.643G>T, r.643g>u, p.Glu215X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 2982 Feature /change: g -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 925 Feature /codon: gaa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 215 Feature /change: E -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_W274X(1); standard; MUTATION; PK Accession K00872 Systematic name g.3800G>A, c.822G>A, r.822g>a, p.Trp274X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3800 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1104 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 274 Feature /change: W -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#G214X257(1); standard; MUTATION; PK Accession K00873 Systematic name g.2980delG, c.641delG, r.641delg, p.Gly214fsX43 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 2980 Feature /change: -g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 923 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 214 Feature /change: G -> Feature /change: AKCGGACGTV RVWPSRSSPR GMNSPGSGRL RSITQYCSDT TTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#T248X390(1); standard; MUTATION; PK Accession K00874 Systematic name g.3081delA, c.742delA, r.742dela, p.Thr248fsX9 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3081 Feature /change: -a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1024 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 248 Feature /change: T -> QYCSDTTTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Frame shift deletion // ID ACVRL1_#R479X501(1); standard; MUTATION; PK Accession K00875 Systematic name g.9343delG, c.1436delG, r.1436delg, p.Arg479fsX22 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 9343 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 479 Feature /change: R -> HSPRCGSRRH YKKLATVQRS LKX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Frame shift deletion // ID ACVRL1_G258S(1); standard; MUTATION; PK Accession K00876 Systematic name g.3111G>A, c.772G>A, r.772g>a, p.Gly258Ser Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3111 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1054 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 258 Feature /change: G -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L349P(1); standard; MUTATION; PK Accession K00877 Systematic name g.4024T>C, c.1046T>C, r.1046u>c, p.Leu349Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4024 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1328 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 349 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_D427V(1); standard; MUTATION; PK Accession K00878 Systematic name g.7544A>T, c.1280A>T, r.1280a>u, p.Asp427Val Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [2] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [22] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 RefNumber [23] RefCrossRef PUBMED; 18285823 RefAuthors Lesca, G., Genin, E., Blachier, C., Olivieri, C., Coulet, RefAuthors F., Brunet, G., Dupuis-Girod, S., Buscarini, E., Soubrier, RefAuthors F., Calender, A., Danesino, C., Giraud, S., Plauchu, RefAuthors H., , . RefTitle Hereditary hemorrhagic telangiectasia: evidence for RefTitle regional founder effects of ACVRL1 mutations in French and RefTitle Italian patients. RefLoc Eur J Hum Genet 16:742-9 RefNumber [8] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7544 Feature /change: a -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1562 Feature /codon: gat -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 427 Feature /change: D -> V Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVRL1_#G463X464(1); standard; MUTATION; PK Accession K00879 Systematic name g.9295delG, c.1388delG, r.1388delg, p.Gly463fsX1 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 9295 Feature /change: -g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1670 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 463 Feature /change: G -> AX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Frame shift deletion // ID ACVRL1_Q490X(1); standard; MUTATION; PK Accession K00880 Systematic name g.9375C>T, c.1468C>T, r.1468c>u, p.Gln490X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [2] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [2] RefCrossRef PUBMED; 11484689 RefAuthors Trembath, R. C., Thomson, J. R., Machado, R. D., Morgan, RefAuthors N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, RefAuthors N., Loyd, J. E., Humbert, M., Nichols, W. C., Morrell, N. RefAuthors W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M., RefAuthors Wheeler, L. RefTitle Clinical and molecular genetic features of pulmonary RefTitle hypertension in patients with hereditary hemorrhagic RefTitle telangiectasia. RefLoc N Engl J Med 345:325-34 RefNumber [7] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9375 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1750 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 490 Feature /change: Q -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_G211D(1); standard; MUTATION; PK Accession K00881 Systematic name g.2971G>A, c.632G>A, r.632g>a, p.Gly211Asp Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [20] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 2971 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 914 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 211 Feature /change: G -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_W399S(1); standard; MUTATION; PK Accession K00882 Systematic name g.4709G>C, c.1196G>C, r.1196g>c, p.Trp399Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [6] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [7] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4709 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1478 Feature /codon: tgg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 399 Feature /change: W -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_K487T(1); standard; MUTATION; PK Accession K00883 Systematic name g.9367A>C, c.1460A>C, r.1460a>c, p.Lys487Thr Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [10] RefCrossRef PUBMED; 14684682 RefAuthors Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. RefAuthors A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, RefAuthors I. M., Olschewski, H., McLaughlin, V., Gruenig, E., RefAuthors Kermeen, F., Halme, M., Raisanen-Sokolowski, A., Laitinen, RefAuthors T., Morrell, N. W., Trembath, R. C. RefTitle Molecular and functional analysis identifies ALK-1 as the RefTitle predominant cause of pulmonary hypertension related to RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 40:865-71 RefNumber [11] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9367 Feature /change: a -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1742 Feature /codon: aag -> acg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 487 Feature /change: K -> T Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_S462X(1); standard; MUTATION; PK Accession K00884 Systematic name g.9292C>G, c.1385C>G, r.1385c>g, p.Ser462X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 15065824 RefAuthors Abdalla, S. A., Gallione, C. J., Barst, R. J., Horn, E. RefAuthors M., Knowles, J. A., Marchuk, D. A., Letarte, M., Morse, J. RefAuthors H. RefTitle Primary pulmonary hypertension in families with hereditary RefTitle haemorrhagic telangiectasia. RefLoc Eur Respir J 23:373-7 RefNumber [15] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9292 Feature /change: c -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1667 Feature /codon: tca -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 462 Feature /change: S -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L273P(1); standard; MUTATION; PK Accession K00885 Systematic name g.3796T>C, c.818T>C, r.818u>c, p.Leu273Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [17] RefCrossRef PUBMED; 19357124 RefAuthors Smoot, L. B., Obler, D., McElhinney, D. B., Boardman, K., RefAuthors Wu, B. L., Lip, V., Mullen, M. P. RefTitle Clinical features of pulmonary arterial hypertension in RefTitle young people with an ALK1 mutation and hereditary RefTitle haemorrhagic telangiectasia. RefLoc Arch Dis Child 94:506-11 RefNumber [18] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jais, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 RefNumber [5] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3796 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1100 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 273 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 5; Homozygotes: 0 // ID ACVRL1_E224K(1); standard; MUTATION; PK Accession K00886 Systematic name g.3009G>A, c.670G>A, r.670g>a, p.Glu224Lys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3009 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 952 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 224 Feature /change: E -> K Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_Q237X(1); standard; MUTATION; PK Accession K00887 Systematic name g.3048C>T, c.709C>T, r.709c>u, p.Gln237X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3048 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 991 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 237 Feature /change: Q -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-In this article(16705692),it is written that the mutation Comment -!-is c709T>C, but it does not make any sense. So the database Comment -!-is updated by using the corrected mutation which is c709C>T // ID ACVRL1_H280D(1); standard; MUTATION; PK Accession K00888 Systematic name g.3816C>G, c.838C>G, r.838c>g, p.His280Asp Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3816 Feature /change: c -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1120 Feature /codon: cac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 280 Feature /change: H -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_Y286X(1); standard; MUTATION; PK Accession K00889 Systematic name g.3836C>G, c.858C>G, r.858c>g, p.Tyr286X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3836 Feature /change: c -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1140 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 286 Feature /change: Y -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_Q292P(1); standard; MUTATION; PK Accession K00890 Systematic name g.3853A>C, c.875A>C, r.875a>c, p.Gln292Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 RefNumber [29] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3853 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1157 Feature /codon: cag -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 292 Feature /change: Q -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_G309C(1); standard; MUTATION; PK Accession K00891 Systematic name g.3903G>T, c.925G>T, r.925g>u, p.Gly309Cys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3903 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1207 Feature /codon: ggc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 309 Feature /change: G -> C Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_G319D(1); standard; MUTATION; PK Accession K00892 Systematic name g.3934G>A, c.956G>A, r.956g>a, p.Gly319Asp Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3934 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1238 Feature /codon: ggt -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 319 Feature /change: G -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#L337X353(1); standard; MUTATION; PK Accession K00893 Systematic name g.3988delT, c.1010delT, r.1010delu, p.Leu337fsX16 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3988 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1292 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 337 Feature /change: L -> RSRATCSVAS PTWAWLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@G371X391(1); standard; MUTATION; PK Accession K00894 Systematic name g.4625dupG, c.1112dupG, r.1112dupg, p.Thr372fsX19 Description A frame shift duplication mutation in the exon 7 leading to Description a premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [25] RefCrossRef PUBMED; 12700602 RefAuthors Abdalla, S. A., Cymerman, U., Johnson, R. M., Deber, C. RefAuthors M., Letarte, M. RefTitle Disease-associated mutations in conserved residues of ALK- RefTitle 1 kinase domain. RefLoc Eur J Hum Genet 11:279-87 RefNumber [26] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [27] RefCrossRef PUBMED; 16705692 RefAuthors Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., RefAuthors Marion, M. J., Babin, E., Gilbert-Dussardier, B., Riviere, RefAuthors S., Goizet, C., Faivre, L., Plauchu, H., Frebourg, T., RefAuthors Calender, A., Giraud, S., , . RefTitle Distribution of ENG and ACVRL1 (ALK1) mutations in French RefTitle HHT patients. RefLoc Hum Mutat 27:598 RefNumber [15] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ACVRL1_DNA: 4626 Feature /change: +g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1395 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 371 Feature /change: G -> GHQAVHGTRG AGRADPHGLL X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 19; Patients: 26; Homozygotes: 0 // ID ACVRL1_#E281X300(1); standard; MUTATION; PK Accession K00895 Systematic name g.3820delA, c.842delA, r.842dela, p.Glu281fsX19 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3820 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1124 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 281 Feature /change: E -> GTAPSTTFCR DRRWSPIWLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L302R(1); standard; MUTATION; PK Accession K00896 Systematic name g.3883T>G, c.905T>G, r.905u>g, p.Leu302Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3883 Feature /change: t -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1187 Feature /codon: cta -> cga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 302 Feature /change: L -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_H314Y(1); standard; MUTATION; PK Accession K00897 Systematic name g.3918C>T, c.940C>T, r.940c>u, p.His314Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [29] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [30] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3918 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1222 Feature /codon: cac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 314 Feature /change: H -> Y Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_S333G(1); standard; MUTATION; PK Accession K00898 Systematic name g.3975A>G, c.997A>G, r.997a>g, p.Ser333Gly Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [31] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3975 Feature /change: a -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1279 Feature /codon: agc -> ggc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 333 Feature /change: S -> G Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_G350S(1); standard; MUTATION; PK Accession K00899 Systematic name g.4026G>A, c.1048G>A, r.1048g>a, p.Gly350Ser Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 14-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [31] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4026 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1330 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 350 Feature /change: G -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A482V(1); standard; MUTATION; PK Accession K00900 Systematic name g.9352C>T, c.1445C>T, r.1445c>u, p.Ala482Val Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 14-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [34] RefCrossRef PUBMED; 10323406 RefAuthors D'Abronzo, F. H., Swearingen, B., Klibanski, A., RefAuthors Alexander, J. M. RefTitle Mutational analysis of activin/transforming growth factor- RefTitle beta type I and type II receptor kinases in human RefTitle pituitary tumors. RefLoc J Clin Endocrinol Metab 84:1716-21 RefNumber [35] RefCrossRef PUBMED; 15880681 RefAuthors Schulte, C., Geisthoff, U., Lux, A., Kupka, S., Zenner, H. RefAuthors P., Blin, N., Pfister, M. RefTitle High frequency of ENG and ALK1/ACVRL1 mutations in German RefTitle HHT patients. RefLoc Hum Mutat 25:595 RefNumber [15] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [15] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9352 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1727 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 482 Feature /change: A -> V Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVRL1_E215K(1); standard; MUTATION; PK Accession K00901 Systematic name g.2982G>A, c.643G>A, r.643g>a, p.Glu215Lys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 2982 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 925 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 215 Feature /change: E -> K Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_H222X(1); standard; MUTATION; PK Accession K00902 Systematic name g.3003delC, c.664delC, r.664delc, p.His222fsX35 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3003 Feature /change: -c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 946 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 222 Feature /change: H -> TVRVWPSRSS PRGMNSPGSG RLRSITQYCS DTTTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_G223R(1); standard; MUTATION; PK Accession K00903 Systematic name g.3006G>C, c.667G>C, r.667g>c, p.Gly223Arg Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3006 Feature /change: g -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 949 Feature /codon: ggt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 223 Feature /change: G -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#V228X257(1); standard; MUTATION; PK Accession K00904 Systematic name g.3021delG, c.682delG, r.682delg, p.Val228fsX29 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3021 Feature /change: -g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 964 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 228 Feature /change: V -> SRSSPRGMNS PGSGRLRSIT QYCSDTTTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_K229R(1); standard; MUTATION; PK Accession K00905 Systematic name g.3025A>G, c.686A>G, r.686a>g, p.Lys229Arg Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3025 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 968 Feature /codon: aag -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 229 Feature /change: K -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#D235X257(1); standard; MUTATION; PK Accession K00906 Systematic name g.3043delA, c.704delA, r.704dela, p.Asp235fsX22 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3043 Feature /change: -a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 986 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 235 Feature /change: D -> VNSPGSGRLR SITQYCSDTT TSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L285F(1); standard; MUTATION; PK Accession K00907 Systematic name g.3831C>T, c.853C>T, r.853c>u, p.Leu285Phe Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3831 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1135 Feature /codon: ctc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 285 Feature /change: L -> F Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A306P(1); standard; MUTATION; PK Accession K00908 Systematic name g.3894G>C, c.916G>C, r.916g>c, p.Ala306Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3894 Feature /change: g -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1198 Feature /codon: gcg -> ccg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 306 Feature /change: A -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#P324X353(1); standard; MUTATION; PK Accession K00909 Systematic name g.3950delA, c.972delA, r.972dela, p.Ala325fsX28 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3950 Feature /change: -a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1254 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 324 Feature /change: P -> PPLPTATSRA AMCWSRATCS VASPTWAWLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L337P(1); standard; MUTATION; PK Accession K00910 Systematic name g.3988T>C, c.1010T>C, r.1010u>c, p.Leu337Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3988 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1292 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 337 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A347P(1); standard; MUTATION; PK Accession K00911 Systematic name g.4017G>C, c.1039G>C, r.1039g>c, p.Ala347Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [6] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [13] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4017 Feature /change: g -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1321 Feature /codon: gcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 347 Feature /change: A -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_D397G(1); standard; MUTATION; PK Accession K00912 Systematic name g.4703A>G, c.1190A>G, r.1190a>g, p.Asp397Gly Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4703 Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1472 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 397 Feature /change: D -> G Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_F425L(1); standard; MUTATION; PK Accession K00913 Systematic name g.7539C>G, c.1275C>G, r.1275c>g, p.Phe425Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [12] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 RefNumber [6] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7539 Feature /change: c -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1557 Feature /codon: ttc -> ttg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 425 Feature /change: F -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@S477X493(1); standard; MUTATION; PK Accession K00914 Systematic name g.9335dupC, c.1428dupC, r.1428dupc, p.Ser477fsX16 Description A frame shift duplication mutation in the exon 9 leading to Description a premature stop codon in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [12] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ACVRL1_DNA: 9336 Feature /change: +c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1711 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 477 Feature /change: S -> LCPTHRAADQ EDTTKNX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R479L(1); standard; MUTATION; PK Accession K00915 Systematic name g.9343G>T, c.1436G>T, r.1436g>u, p.Arg479Leu Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 15-Jun-2011 (Rel. 3, Created) Date 15-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [13] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9343 Feature /change: g -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1718 Feature /codon: cga -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 479 Feature /change: R -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@R484X493(1); standard; MUTATION; PK Accession K00916 Systematic name g.9357C>T, c.1450C>T, r.1450c>u, p.Arg484Trp Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 16-Jun-2011 (Rel. 3, Created) Date 16-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20056902 RefAuthors Girerd, B., Montani, D., Coulet, F., Sztrymf, B., Yaici, RefAuthors A., Jaes, X., Tregouet, D., Reis, A., Drouin-Garraud, V., RefAuthors Fraisse, A., Sitbon, O., O'Callaghan, D. S., Simonneau, RefAuthors G., Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle patients carrying an ACVRL1 (ALK1) mutation. RefLoc Am J Respir Crit Care Med 181:851-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9357 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1732 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 484 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@M376X392(1); standard; MUTATION; PK Accession K00917 Systematic name g.4639_4640insG, c.1126_1127insG, r.1126_1127insg, Systematic name p.Met376fsX15 Description A frame shift insertion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 16-Jun-2011 (Rel. 3, Created) Date 16-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15024723 RefAuthors Lesca, G., Plauchu, H., Coulet, F., Lefebvre, S., Plessis, RefAuthors G., Odent, S., Riviere, S., Leheup, B., Goizet, C., RefAuthors Carette, M. F., Cordier, J. F., Pinson, S., Soubrier, F., RefAuthors Calender, A., Giraud, S., , . RefTitle Molecular screening of ALK1/ACVRL1 and ENG genes in RefTitle hereditary hemorrhagic telangiectasia in France. RefLoc Hum Mutat 23:289-99 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: ACVRL1_DNA: 4640 Feature /change: +g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1409 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 376 Feature /change: M -> SGTRGAGRAD PHGLLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@S225X236(1); standard; MUTATION; PK Accession K00918 Systematic name g.3012dupA, c.673dupA, r.673dupa, p.Ser225fsX11 Description A frame shift duplication mutation in the exon 5 leading to Description a premature stop codon in the PK domain Date 20-Jun-2011 (Rel. 3, Created) Date 20-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ACVRL1_DNA: 3013 Feature /change: +a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 956 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 225 Feature /change: S -> KCGRQDLLLE GX Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#S269X299(1); standard; MUTATION; PK Accession K00919 Systematic name g.3785delG, c.807delG, r.807delg, p.Ser270fsX30 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 20-Jun-2011 (Rel. 3, Created) Date 20-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3785 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1089 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 269 Feature /change: S -> SARSCGSSRT TTSTAPSTTF CRDRRWSPIW LX Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@F424X447(1); standard; MUTATION; PK Accession K00920 Systematic name g.156251dupC, c.1269dupC, r.1269dupc, p.Phe424fsX23 Description A frame shift duplication mutation in the exon 9 leading to Description a premature stop codon in the PK domain Date 20-Jun-2011 (Rel. 3, Created) Date 20-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18356561 RefAuthors Sztrymf, B., Coulet, F., Girerd, B., Yaici, A., Jais, X., RefAuthors Sitbon, O., Montani, D., Souza, R., Simonneau, G., RefAuthors Soubrier, F., Humbert, M. RefTitle Clinical outcomes of pulmonary arterial hypertension in RefTitle carriers of BMPR2 mutation. RefLoc Am J Respir Crit Care Med 177:1377-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 156252 Feature /change: +c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1651 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 424 Feature /change: F -> LPRGIRTRVP DGFSDRGWKP SHFX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-As the position of the nucleotide change differ from that Comment -!-is reported to the publication,Mutation is updated Comment -!-according to the amino acid change. // ID BMPR2_@T268X297(1); standard; MUTATION; PK Accession K00921 Systematic name g.142528dupA, c.802dupA, r.802dupa, p.Thr268fsX29 Description A frame shift duplication mutation in the exon 6 leading to Description a premature stop codon in the PK domain Date 20-Jun-2011 (Rel. 3, Created) Date 20-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 20002458 RefAuthors Wang, H., Cui, Q. Q., Sun, K., Song, L., Zou, Y. B., Wang, RefAuthors X. J., Jia, L., Liu, X., Gao, S., Zhang, C. N., Hui, R. T. RefTitle Identities and frequencies of BMPR2 mutations in Chinese RefTitle patients with idiopathic pulmonary arterial hypertension. RefLoc Clin Genet 77:189-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 142529 Feature /change: +a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1184 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 268 Feature /change: T -> NCRWTHGIFA CDGVLSQWIF MQVFKSPHKX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Mutation is updated according to the amino acid change. // ID BMPR2_@R381X398(1); standard; MUTATION; PK Accession K00922 Systematic name g.156123dupA, c.1141dupA, r.1141dupa, p.Arg381fsX17 Description A frame shift duplication mutation in the exon 9 leading to Description a premature stop codon in the PK domain Date 20-Jun-2011 (Rel. 3, Created) Date 20-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19206171 RefAuthors Hamid, R., Cogan, J. D., Hedges, L. K., Austin, E., RefAuthors Phillips, J. A., Newman, J. H., Loyd, J. E. RefTitle Penetrance of pulmonary arterial hypertension is modulated RefTitle by the expression of normal BMPR2 allele. RefLoc Hum Mutat 30:649-54 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 156124 Feature /change: +a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1523 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 381 Feature /change: R -> KIYGTRSARR SCELEGLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_L308P(1); standard; MUTATION; PK Accession K00923 Systematic name g.66229T>C, c.923T>C, r.923u>c, p.Leu308Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [1] RefCrossRef PUBMED; 15235604 RefAuthors Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, RefAuthors M., Harada, N., Morisaki, T., Allard, D., Varret, M., RefAuthors Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., RefAuthors Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, RefAuthors T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., RefAuthors Boileau, C., Matsumoto, N. RefTitle Heterozygous TGFBR2 mutations in Marfan syndrome. RefLoc Nat Genet 36:855-60 RefNumber [2] RefCrossRef PUBMED; 20358619 RefAuthors Kirmani, S., Tebben, P. J., Lteif, A. N., Gordon, D., RefAuthors Clarke, B. L., Hefferan, T. E., Yaszemski, M. J., McGrann, RefAuthors P. S., Lindor, N. M., Ellison, J. W. RefTitle Germline TGF-beta receptor mutations and skeletal RefTitle fragility: a report on two patients with Loeys-Dietz RefTitle syndrome. RefLoc Am J Med Genet A 152A:1016-9 RefNumber [24] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66229 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2495 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 308 Feature /change: L -> P Feature /domain: PK Diagnosis Loeys Dietz Syndrome Marfan Syndrome Diagnosis Loeys-Dietz syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TGFBR2_W521R(1); standard; MUTATION; PK Accession K00924 Systematic name g.85579T>C, c.1561T>C, r.1561u>c, p.Trp521Arg Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 2, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 20358619 RefAuthors Kirmani, S., Tebben, P. J., Lteif, A. N., Gordon, D., RefAuthors Clarke, B. L., Hefferan, T. E., Yaszemski, M. J., McGrann, RefAuthors P. S., Lindor, N. M., Ellison, J. W. RefTitle Germline TGF-beta receptor mutations and skeletal RefTitle fragility: a report on two patients with Loeys-Dietz RefTitle syndrome. RefLoc Am J Med Genet A 152A:1016-9 RefNumber [5] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85579 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3133 Feature /codon: tgg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 521 Feature /change: W -> R Feature /domain: PK Diagnosis Loeys-Dietz syndrome Diagnosis Marfan syndrome type 2 Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TGFBR2_Q508Q(1); standard; MUTATION; PK Accession K00925 Systematic name g.82634G>A, c.1524G>A, r.1524g>a, p.Gln508Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 15235604 RefAuthors Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, RefAuthors M., Harada, N., Morisaki, T., Allard, D., Varret, M., RefAuthors Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., RefAuthors Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, RefAuthors T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., RefAuthors Boileau, C., Matsumoto, N. RefTitle Heterozygous TGFBR2 mutations in Marfan syndrome. RefLoc Nat Genet 36:855-60 RefNumber [23] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82634 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3096 Feature /codon: cag -> caa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 508 Feature /change: Q -> Q Feature /domain: PK Diagnosis Marfan syndrome Diagnosis Loeys-Dietz syndrome Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TGFBR2_S449F(1); standard; MUTATION; PK Accession K00926 Systematic name g.68319C>T, c.1346C>T, r.1346c>u, p.Ser449Phe Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [2] RefCrossRef PUBMED; 15235604 RefAuthors Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, RefAuthors M., Harada, N., Morisaki, T., Allard, D., Varret, M., RefAuthors Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., RefAuthors Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, RefAuthors T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., RefAuthors Boileau, C., Matsumoto, N. RefTitle Heterozygous TGFBR2 mutations in Marfan syndrome. RefLoc Nat Genet 36:855-60 RefNumber [4] RefCrossRef PUBMED; 19159394 RefAuthors Soylen, B., Singh, K. K., Abuzainin, A., Rommel, K., RefAuthors Becker, H., Arslan-Kirchner, M., Schmidtke, J. RefTitle Prevalence of dural ectasia in 63 gene-mutation-positive RefTitle patients with features of Marfan syndrome type 1 and Loeys- RefTitle Dietz syndrome and report of 22 novel FBN1 mutations. RefLoc Clin Genet 75:265-70 RefNumber [5] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 RefNumber [4] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68319 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2918 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 449 Feature /change: S -> F Feature /domain: PK Diagnosis Marfan syndrome Diagnosis Hereditary nonpolyposis colorectal cancer Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TGFBR2_R537C(1); standard; MUTATION; PK Accession K00927 Systematic name g.85627C>T, c.1609C>T, r.1609c>u, p.Arg537Cys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 5) RefNumber [2] RefCrossRef PUBMED; 15235604 RefAuthors Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, RefAuthors M., Harada, N., Morisaki, T., Allard, D., Varret, M., RefAuthors Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., RefAuthors Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, RefAuthors T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., RefAuthors Boileau, C., Matsumoto, N. RefTitle Heterozygous TGFBR2 mutations in Marfan syndrome. RefLoc Nat Genet 36:855-60 RefNumber [2] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85627 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3181 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 537 Feature /change: R -> C Feature /domain: PK Diagnosis Marfan syndrome Diagnosis Loeys-Dietz syndrome Occurrence Families: 4; Patients: 8; Homozygotes: 0 Comment -!-Probable Marfan Syndrome Comment -!-Thoracic Aortic Aneurysm or Dissection(TAAD) // ID TGFBR2_T530I(1); standard; MUTATION; PK Accession K00928 Systematic name g.85607C>T, c.1589C>T, r.1589c>u, p.Thr530Ile Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19533785 RefAuthors Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. RefAuthors S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., RefAuthors Yang, W., Lau, Y. L. RefTitle Identification of novel FBN1 and TGFBR2 mutations in 65 RefTitle probands with Marfan syndrome or Marfan-like phenotypes. RefLoc Am J Med Genet A 149A:1452-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85607 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3161 Feature /codon: aca -> ata; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 530 Feature /change: T -> I Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_#P501X517(1); standard; MUTATION; PK Accession K00929 Systematic name g.82612delC, c.1502delC, r.1502delc, p.Ser502fsX15 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19533785 RefAuthors Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. RefAuthors S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., RefAuthors Yang, W., Lau, Y. L. RefTitle Identification of novel FBN1 and TGFBR2 mutations in 65 RefTitle probands with Marfan syndrome or Marfan-like phenotypes. RefLoc Am J Med Genet A 149A:1452-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: TGFBR2_DNA: 82612 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3074 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 501 Feature /change: P -> PASGSTTRAS RWCVRRX Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 4; Homozygotes: 0 Comment -!-Original mutation in protein level is p.Ser502fsX15 // ID TGFBR2_G357R(1); standard; MUTATION; PK Accession K00930 Systematic name g.66375G>A, c.1069G>A, r.1069g>a, p.Gly357Arg Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19533785 RefAuthors Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. RefAuthors S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., RefAuthors Yang, W., Lau, Y. L. RefTitle Identification of novel FBN1 and TGFBR2 mutations in 65 RefTitle probands with Marfan syndrome or Marfan-like phenotypes. RefLoc Am J Med Genet A 149A:1452-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66375 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2641 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 357 Feature /change: G -> R Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_T325P(1); standard; MUTATION; PK Accession K00931 Systematic name g.66279A>C, c.973A>C, r.973a>c, p.Thr325Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19533785 RefAuthors Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. RefAuthors S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., RefAuthors Yang, W., Lau, Y. L. RefTitle Identification of novel FBN1 and TGFBR2 mutations in 65 RefTitle probands with Marfan syndrome or Marfan-like phenotypes. RefLoc Am J Med Genet A 149A:1452-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66279 Feature /change: a -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2545 Feature /codon: acc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 325 Feature /change: T -> P Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_D247V(1); standard; MUTATION; PK Accession K00932 Systematic name g.66046A>T, c.740A>T, r.740a>u, p.Asp247Val Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19533785 RefAuthors Chung, B. H., Lam, S. T., Tong, T. M., Li, S. Y., Lun, K. RefAuthors S., Chan, D. H., Fok, S. F., Or, J. S., Smith, D. K., RefAuthors Yang, W., Lau, Y. L. RefTitle Identification of novel FBN1 and TGFBR2 mutations in 65 RefTitle probands with Marfan syndrome or Marfan-like phenotypes. RefLoc Am J Med Genet A 149A:1452-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66046 Feature /change: a -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2312 Feature /codon: gac -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 247 Feature /change: D -> V Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_E485K(1); standard; MUTATION; PK Accession K00933 Systematic name g.82563G>A, c.1453G>A, r.1453g>a, p.Glu485Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 21-Jun-2011 (Rel. 3, Created) Date 21-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19336958 RefAuthors Yamawaki, T., Nagaoka, K., Morishige, K., Sadamatsu, K., RefAuthors Tashiro, H., Yasunaga, H., Morisaki, H., Morisaki, T. RefTitle Familial thoracic aortic aneurysm and dissection RefTitle associated with Marfan-related gene mutations: case report RefTitle of a family with two gene mutations. RefLoc Intern Med 48:555-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82563 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3025 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 485 Feature /change: E -> K Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-Inherited Thoracic aortic aneurysm and dissection(TAAD) Comment -!-which leads to Marfan's syndrome(MFS) // ID TGFBR2_R495X(1); standard; MUTATION; PK Accession K00934 Systematic name g.82593C>T, c.1483C>T, r.1483c>u, p.Arg495X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18084123 RefAuthors Togashi, Y., Sakoda, H., Nishimura, A., Matsumoto, N., RefAuthors Hiraoka, H., Matsuzawa, Y. RefTitle A Japanese family of typical Loeys-Dietz syndrome with a RefTitle TGFBR2 mutation. RefLoc Intern Med 46:1995-2000 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82593 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3055 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 495 Feature /change: R -> X Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 2; Homozygotes: // ID TGFBR2_V258G(1); standard; MUTATION; PK Accession K00935 Systematic name g.66079T>G, c.773T>G, r.773u>g, p.Val258Gly Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66079 Feature /change: t -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2345 Feature /codon: gtc -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 258 Feature /change: V -> G Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Marfan syndrome related disorder also. // ID TGFBR2_G369V(1); standard; MUTATION; PK Accession K00936 Systematic name g.66412G>T, c.1106G>T, r.1106g>u, p.Gly369Val Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66412 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2678 Feature /codon: ggg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 369 Feature /change: G -> V Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Marfan syndrome type 2. Patient has mutation also in Comment -!-p.V387L. Two changes in one allele. One allele contains Comment -!-both c.1106G>T (p.G369V) and c.1159G>C ( p.V387L) // ID TGFBR2_V387L(1); standard; MUTATION; PK Accession K00937 Systematic name g.66465G>C, c.1159G>C, r.1159g>c, p.Val387Leu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66465 Feature /change: g -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2731 Feature /codon: gtg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 387 Feature /change: V -> L Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Marfan syndrome type 2. Patient has mutation also in Comment -!-p.G369V. Two changes in one allele. One allele contains Comment -!-both c.1106G>T (p.G369V) and c.1159G>C ( p.V387L) // ID TGFBR2_V387M(1); standard; MUTATION; PK Accession K00938 Systematic name g.66465G>A, c.1159G>A, r.1159g>a, p.Val387Met Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [4] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 RefNumber [2] RefCrossRef PUBMED; 21524434 RefAuthors Girdauskas, E., Schulz, S., Borger, M. A., Mierzwa, M., RefAuthors Kuntze, T. RefTitle Transforming growth factor-beta receptor type II mutation RefTitle in a patient with bicuspid aortic valve disease and RefTitle intraoperative aortic dissection. RefLoc Ann Thorac Surg 91:e70-1 RefNumber [3] RefCrossRef PUBMED; 11212236 RefAuthors Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. RefAuthors M., Hughes-Davies, L., Kemp, P. R., Hesketh, R. RefTitle Inhibiting mutations in the transforming growth factor RefTitle beta type 2 receptor in recurrent human breast cancer. RefLoc Cancer Res 61:482-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66465 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2731 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 387 Feature /change: V -> M Feature /domain: PK Diagnosis Marfan syndrome Diagnosis Diagnosis Human breast cancer Occurrence Families: 2; Patients: 3; Homozygotes: 0 Comment -!-Thoracic aortic aneurysms and dissections Comment -!-Bicuspid Aortic Valve Disease // ID TGFBR2_C394Y(1); standard; MUTATION; PK Accession K00939 Systematic name g.66487G>A, c.1181G>A, r.1181g>a, p.Cys394Tyr Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66487 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2753 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 394 Feature /change: C -> Y Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Thoracic aortic aneurysms and dissections // ID TGFBR2_R356P(1); standard; MUTATION; PK Accession K00941 Systematic name g.66373G>C, c.1067G>C, r.1067g>c, p.Arg356Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16283890 RefAuthors Ki, C. S., Jin, D. K., Chang, S. H., Kim, J. E., Kim, J. RefAuthors W., Park, B. K., Choi, J. H., Park, I. S., Yoo, H. W. RefTitle Identification of a novel TGFBR2 gene mutation in a Korean RefTitle patient with Loeys-Dietz aortic aneurysm syndrome; no RefTitle mutation in TGFBR2 gene in 30 patients with classic RefTitle Marfan's syndrome. RefLoc Clin Genet 68:561-3 RefNumber [7] RefCrossRef PUBMED; 16835936 RefAuthors Sakai, H., Visser, R., Ikegawa, S., Ito, E., Numabe, H., RefAuthors Watanabe, Y., Mikami, H., Kondoh, T., Kitoh, H., Sugiyama, RefAuthors R., Okamoto, N., Ogata, T., Fodde, R., Mizuno, S., RefAuthors Takamura, K., Egashira, M., Sasaki, N., Watanabe, S., RefAuthors Nishimaki, S., Takada, F., Nagai, T., Okada, Y., Aoka, Y., RefAuthors Yasuda, K., Iwasa, M., Kogaki, S., Harada, N., Mizuguchi, RefAuthors T., Matsumoto, N. RefTitle Comprehensive genetic analysis of relevant four genes in RefTitle 49 patients with Marfan syndrome or Marfan-related RefTitle phenotypes. RefLoc Am J Med Genet A 140:1719-25 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66373 Feature /change: g -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2639 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 356 Feature /change: R -> P Feature /domain: PK Diagnosis Loeys-Dietz syndrome Diagnosis Marfan syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TGFBR2_D446N(1); standard; MUTATION; PK Accession K00942 Systematic name g.68309G>A, c.1336G>A, r.1336g>a, p.Asp446Asn Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 3) RefNumber [6] RefCrossRef PUBMED; 16835936 RefAuthors Sakai, H., Visser, R., Ikegawa, S., Ito, E., Numabe, H., RefAuthors Watanabe, Y., Mikami, H., Kondoh, T., Kitoh, H., Sugiyama, RefAuthors R., Okamoto, N., Ogata, T., Fodde, R., Mizuno, S., RefAuthors Takamura, K., Egashira, M., Sasaki, N., Watanabe, S., RefAuthors Nishimaki, S., Takada, F., Nagai, T., Okada, Y., Aoka, Y., RefAuthors Yasuda, K., Iwasa, M., Kogaki, S., Harada, N., Mizuguchi, RefAuthors T., Matsumoto, N. RefTitle Comprehensive genetic analysis of relevant four genes in RefTitle 49 patients with Marfan syndrome or Marfan-related RefTitle phenotypes. RefLoc Am J Med Genet A 140:1719-25 RefNumber [7] RefCrossRef PUBMED; 19006214 RefAuthors Watanabe, Y., Sakai, H., Nishimura, A., Miyake, N., RefAuthors Saitsu, H., Mizuguchi, T., Matsumoto, N. RefTitle Paternal somatic mosaicism of a TGFBR2 mutation RefTitle transmitting to an affected son with Loeys-Dietz syndrome. RefLoc Am J Med Genet A 146A:3070-4 RefNumber [3] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68309 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2908 Feature /codon: gat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 446 Feature /change: D -> N Feature /domain: PK Diagnosis Marfan syndrome Diagnosis Loeys-Dietz syndrome Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID TGFBR2_C394W(1); standard; MUTATION; PK Accession K00943 Systematic name g.66488C>G, c.1182C>G, r.1182c>g, p.Cys394Trp Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66488 Feature /change: c -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2754 Feature /codon: tgc -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 394 Feature /change: C -> W Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_D446H(1); standard; MUTATION; PK Accession K00944 Systematic name g.68309G>C, c.1336G>C, r.1336g>c, p.Asp446His Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68309 Feature /change: g -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2908 Feature /codon: gat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 446 Feature /change: D -> H Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_H377P(1); standard; MUTATION; PK Accession K00945 Systematic name g.66436A>C, c.1130A>C, r.1130a>c, p.His377Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66436 Feature /change: a -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2702 Feature /codon: cac -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 377 Feature /change: H -> P Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: Comment -!-Neonatal Marfan Syndrome. // ID TGFBR2_Q511X(1); standard; MUTATION; PK Accession K00946 Systematic name g.85549C>T, c.1531C>T, r.1531c>u, p.Gln511X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85549 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3103 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 511 Feature /change: Q -> X Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Probable Marfan Syndrome // ID TGFBR2_P525R(1); standard; MUTATION; PK Accession K00947 Systematic name g.85592C>G, c.1574C>G, r.1574c>g, p.Pro525Arg Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85592 Feature /change: c -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3146 Feature /codon: cca -> cga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 525 Feature /change: P -> R Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Probable Marfan Syndrome // ID TGFBR2_R254H(1); standard; MUTATION; PK Accession K00948 Systematic name g.66067G>A, c.761G>A, r.761g>a, p.Arg254His Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66067 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2333 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 254 Feature /change: R -> H Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Incomplete Marfan Syndrome // ID TGFBR2_A426T(1); standard; MUTATION; PK Accession K00949 Systematic name g.68249G>A, c.1276G>A, r.1276g>a, p.Ala426Thr Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 22-Jun-2011 (Rel. 3, Created) Date 22-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68249 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2848 Feature /codon: gct -> act; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 426 Feature /change: A -> T Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Incomplete Marfan Syndrome // ID FGFR2_E565A(1); standard; MUTATION; PK Accession K00950 Systematic name g.102703A>C, c.1694A>C, r.1694a>c, p.Glu565Ala Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 23-Jun-2011 (Rel. 3, Created) Date 23-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18541976 RefAuthors Freeman, L., Elakis, G., Watson, G., Mullan, G. L., RefAuthors Taylor, P. J., Anderson, P., Ogle, R., Buckley, M. F., RefAuthors Roscioli, T. RefTitle Pfeiffer syndrome with neonatal death secondary to RefTitle tracheal obstruction owing to the FGFR2 Glu565Ala RefTitle mutation. RefLoc Clin Dysmorphol 17:223-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 102703 Feature /change: a -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1873 Feature /codon: gag -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 565 Feature /change: E -> A Feature /domain: PK Diagnosis Pfeiffer syndrome (PS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_A520T(1); standard; MUTATION; PK Accession K00951 Systematic name g.52208G>A, c.1558G>A, r.1558g>a, p.Ala520Thr Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15605412 RefAuthors Albuisson, J., Pecheux, C., Carel, J. C., Lacombe, D., RefAuthors Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., RefAuthors Matthijs, G., Wasniewska, M., Delpech, M., Young, J., RefAuthors Hardelin, J. P., Dode, C. RefTitle Kallmann syndrome: 14 novel mutations in KAL1 and RefTitle FGFR1 (KAL2). RefLoc Hum Mutat 25:98-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 52208 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X66945; GI:120046; X66945: 2284 Feature /codon: gca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR1_HUMAN: 520 Feature /change: A -> T Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The nucleotide change differs(c.1558G>A) from which is Comment -!-mentioned in the article(c.1561G>A). // ID FGFR1_Y730X(1); standard; MUTATION; PK Accession K00952 Systematic name g.55599C>G, c.2190C>G, r.2190c>g, p.Tyr730X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15605412 RefAuthors Albuisson, J., Pecheux, C., Carel, J. C., Lacombe, D., RefAuthors Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., RefAuthors Matthijs, G., Wasniewska, M., Delpech, M., Young, J., RefAuthors Hardelin, J. P., Dode, C. RefTitle Kallmann syndrome: 14 novel mutations in KAL1 and RefTitle FGFR1 (KAL2). RefLoc Hum Mutat 25:98-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR1_DNA: 55599 Feature /change: c -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X66945; GI:120046; X66945: 2916 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 730 Feature /change: Y -> X Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR1_@Y613X655(1); standard; MUTATION; PK Accession K00953 Systematic name g.53732dupT, c.1837dupT, r.1837dupu, p.Tyr613fsX42 Description A frame shift duplication mutation in the exon 13 leading Description to a premature stop codon in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15605412 RefAuthors Albuisson, J., Pecheux, C., Carel, J. C., Lacombe, D., RefAuthors Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., RefAuthors Matthijs, G., Wasniewska, M., Delpech, M., Young, J., RefAuthors Hardelin, J. P., Dode, C. RefTitle Kallmann syndrome: 14 novel mutations in KAL1 and RefTitle FGFR1 (KAL2). RefLoc Hum Mutat 25:98-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: FGFR1_DNA: 53733 Feature /change: +t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X66945; GI:120046; X66945: 2564 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: FGR1_HUMAN: 613 Feature /change: Y -> Feature /change: LSGLQEVHTP RPGSQECPGD RGQCDEDSRL WPRTGHSPHR LLX Feature /domain: PK Diagnosis Autosomal dominant Kallmann syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID IRAK4_R391H(1); standard; MUTATION; PK Accession K00955 Systematic name g.26645G>A, c.1172G>A, r.1172g>a, p.Arg391His Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17878374 RefAuthors Hoarau, C., Gerard, B., Lescanne, E., Henry, D., Francois, RefAuthors S., Lacapere, J. J., El Benna, J., Dang, P. M., RefAuthors Grandchamp, B., Lebranchu, Y., Gougerot-Pocidalo, M. A., RefAuthors Elbim, C. RefTitle TLR9 activation induces normal neutrophil responses in a RefTitle child with IRAK-4 deficiency: involvement of the direct RefTitle PI3K pathway. RefLoc J Immunol 179:4754-65 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AY186092: 26645 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF155118; GI:5360130; AF155118: 1221 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q8TDF7: 391 Feature /change: R -> H Feature /domain: PK Diagnosis IRAK4 deficiency Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Nucleotide change differs(c.1172G>A) from that referenced Comment -!-sequence(c.1170G>A). // ID FGFR2_K526E(1); standard; MUTATION; PK Accession K00956 Systematic name g.100813A>G, c.1576A>G, r.1576a>g, p.Lys526Glu Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 15523492 RefAuthors de Ravel, T. J., Taylor, I. B., Van Oostveldt, A. J., RefAuthors Fryns, J. P., Wilkie, A. O. RefTitle A further mutation of the FGFR2 tyrosine kinase domain in RefTitle mild Crouzon syndrome. RefLoc Eur J Hum Genet 13:503-5 RefNumber [9] RefCrossRef PUBMED; 16061565 RefAuthors McGillivray, G., Savarirayan, R., Cox, T. C., Stojkoski, RefAuthors C., McNeil, R., Bankier, A., Bateman, J. F., Roscioli, T., RefAuthors Gardner, R. J., Lamande, S. R. RefTitle Familial scaphocephaly syndrome caused by a novel mutation RefTitle in the FGFR2 tyrosine kinase domain. RefLoc J Med Genet 42:656-62 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 100813 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1755 Feature /codon: aaa -> gaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 526 Feature /change: K -> E Feature /domain: PK Diagnosis Crouzon syndrome (CS) Diagnosis Crouzon syndrome (CS) Occurrence Families: 2; Patients: 13; Homozygotes: 0 Comment -!-Familial scaphocephaly syndrome // ID FGFR2_T513T(1); standard; MUTATION; PK Accession K00957 Systematic name g.98556C>T, c.1539C>T, r.1539c>u, p.Thr513Thr Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16010693 RefAuthors Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., RefAuthors Wilkie, A. O. RefTitle Fibroblast growth factor receptor 2, gain-of-function RefTitle mutations, and tumourigenesis: investigating a potential RefTitle link. RefLoc J Pathol 207:27-31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 98556 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1718 Feature /codon: acc -> act; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 513 Feature /change: T -> T Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Silent Mutation // ID FGFR2_T524T(1); standard; MUTATION; PK Accession K00958 Systematic name g.100809A>G, c.1572A>G, r.1572a>g, p.Thr524Thr Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16010693 RefAuthors Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., RefAuthors Wilkie, A. O. RefTitle Fibroblast growth factor receptor 2, gain-of-function RefTitle mutations, and tumourigenesis: investigating a potential RefTitle link. RefLoc J Pathol 207:27-31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 100809 Feature /change: a -> g Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1751 Feature /codon: aca -> acg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 524 Feature /change: T -> T Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Silent Mutation Tumourigenesis // ID FGFR2_L647L(1); standard; MUTATION; PK Accession K00959 Systematic name g.111368C>T, c.1941C>T, r.1941c>u, p.Leu647Leu Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16010693 RefAuthors Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., RefAuthors Wilkie, A. O. RefTitle Fibroblast growth factor receptor 2, gain-of-function RefTitle mutations, and tumourigenesis: investigating a potential RefTitle link. RefLoc J Pathol 207:27-31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 111368 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2120 Feature /codon: ctc -> ctt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 647 Feature /change: L -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Silent Mutation, Tumourigenesis // ID FGFR2_S702S(1); standard; MUTATION; PK Accession K00960 Systematic name g.113920G>A, c.2106G>A, r.2106g>a, p.Ser702Ser Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16010693 RefAuthors Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., RefAuthors Wilkie, A. O. RefTitle Fibroblast growth factor receptor 2, gain-of-function RefTitle mutations, and tumourigenesis: investigating a potential RefTitle link. RefLoc J Pathol 207:27-31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 113920 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 2285 Feature /codon: tcg -> tca; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 702 Feature /change: S -> S Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Silent Mutation, Tumourigenesis // ID FGFR2_P582L(1); standard; MUTATION; PK Accession K00961 Systematic name g.102754C>T, c.1745C>T, r.1745c>u, p.Pro582Leu Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 30-Jun-2011 (Rel. 3, Created) Date 30-Jun-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16010693 RefAuthors Hansen, R. M., Goriely, A., Wall, S. A., Roberts, I. S., RefAuthors Wilkie, A. O. RefTitle Fibroblast growth factor receptor 2, gain-of-function RefTitle mutations, and tumourigenesis: investigating a potential RefTitle link. RefLoc J Pathol 207:27-31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR2_DNA: 102754 Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X52832; GI:120049; X52832: 1924 Feature /codon: ccc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR2_HUMAN: 582 Feature /change: P -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Tumourigenesis // ID NTRK1_Q562X(1); standard; MUTATION; PK Accession K00962 Systematic name g.16535C>T, c.1684C>T, r.1684c>u, p.Gln562X Description A point mutation in the exon 13 leading to a premature stop Description codon in the PK domain Date 04-Jul-2011 (Rel. 3, Created) Date 04-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18077166 RefAuthors Huehne, K., Zweier, C., Raab, K., Odent, S., Bonnaure- RefAuthors Mallet, M., Sixou, J. L., Landrieu, P., Goizet, C., RefAuthors Sarlangue, J., Baumann, M., Eggermann, T., Rauch, A., RefAuthors Ruppert, S., Stettner, G. M., Rautenstrauss, B. RefTitle Novel missense, insertion and deletion mutations in the RefTitle neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) RefTitle associated with congenital insensitivity to pain with RefTitle anhidrosis. RefLoc Neuromuscul Disord 18:159-66 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16535 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1804 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 562 Feature /change: Q -> X Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change should be Comment -!-c.1684C>T and p.Q562X instead of c.1672C>T and p.Q558X // ID NTRK1_L725R(1); standard; MUTATION; PK Accession K00963 Systematic name g.20210T>G, c.2174T>G, r.2174u>g, p.Leu725Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 04-Jul-2011 (Rel. 3, Created) Date 04-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18077166 RefAuthors Huehne, K., Zweier, C., Raab, K., Odent, S., Bonnaure- RefAuthors Mallet, M., Sixou, J. L., Landrieu, P., Goizet, C., RefAuthors Sarlangue, J., Baumann, M., Eggermann, T., Rauch, A., RefAuthors Ruppert, S., Stettner, G. M., Rautenstrauss, B. RefTitle Novel missense, insertion and deletion mutations in the RefTitle neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) RefTitle associated with congenital insensitivity to pain with RefTitle anhidrosis. RefLoc Neuromuscul Disord 18:159-66 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 20210 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2294 Feature /codon: ctc -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 725 Feature /change: L -> R Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change should be Comment -!-c.2174T>G and p.L725R instead of c.2150T>G and p.L717R as Comment -!-reported in the article. // ID NTRK1_V572G(1); standard; MUTATION; PK Accession K00964 Systematic name g.16566T>G, c.1715T>G, r.1715u>g, p.Val572Gly Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 04-Jul-2011 (Rel. 3, Created) Date 04-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18077166 RefAuthors Huehne, K., Zweier, C., Raab, K., Odent, S., Bonnaure- RefAuthors Mallet, M., Sixou, J. L., Landrieu, P., Goizet, C., RefAuthors Sarlangue, J., Baumann, M., Eggermann, T., Rauch, A., RefAuthors Ruppert, S., Stettner, G. M., Rautenstrauss, B. RefTitle Novel missense, insertion and deletion mutations in the RefTitle neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) RefTitle associated with congenital insensitivity to pain with RefTitle anhidrosis. RefLoc Neuromuscul Disord 18:159-66 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 16566 Feature /change: t -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 1835 Feature /codon: gtc -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 572 Feature /change: V -> G Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 1 Comment -!-The amino acid change should be p.V572G instead of Comment -!-p.I572S as reported in the article. // ID NTRK1_Q776X(1); standard; MUTATION; PK Accession K00965 Systematic name g.21661C>T, c.2326C>T, r.2326c>u, p.Gln776X Description A point mutation in the exon 16 leading to a premature stop Description codon in the PK domain Date 04-Jul-2011 (Rel. 3, Created) Date 04-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 18322713 RefAuthors Tuysuz, B., Bayrakli, F., DiLuna, M. L., Bilguvar, K., RefAuthors Bayri, Y., Yalcinkaya, C., Bursali, A., Ozdamar, E., RefAuthors Korkmaz, B., Mason, C. E., Ozturk, A. K., Lifton, R. P., RefAuthors State, M. W., Gunel, M. RefTitle Novel NTRK1 mutations cause hereditary sensory and RefTitle autonomic neuropathy type IV: demonstration of a founder RefTitle mutation in the Turkish population. RefLoc Neurogenetics 9:119-25 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 21661 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2446 Feature /codon: caa -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TRKA_HUMAN: 776 Feature /change: Q -> X Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change should be Comment -!-c.2326C>T and p.Gln776X instead of c.2308C>T and p.Gln770X // ID NTRK1_R765C(1); standard; MUTATION; PK Accession K00966 Systematic name g.21628C>T, c.2293C>T, r.2293c>u, p.Arg765Cys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 04-Jul-2011 (Rel. 3, Created) Date 04-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 16373086 RefAuthors Verpoorten, N., Claeys, K. G., Deprez, L., Jacobs, A., Van RefAuthors Gerwen, V., Lagae, L., Arts, W. F., De Meirleir, L., RefAuthors Keymolen, K., Ceuterick-de Groote, C., De Jonghe, P., RefAuthors Timmerman, V., Nelis, E. RefTitle Novel frameshift and splice site mutations in the RefTitle neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) RefTitle associated with hereditary sensory neuropathy type IV. RefLoc Neuromuscul Disord 16:19-25 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: NTRK1_DNA: 21628 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M23102; GI:2851601; HSTRKPOA: 2413 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TRKA_HUMAN: 765 Feature /change: R -> C Feature /domain: PK Diagnosis Congenital insensitivity to pain and anhidrosis Occurrence Families: 2; Patients: 2; Homozygotes: 2 Comment -!-The nucleotide and amino acid change should be c.2293C>T Comment -!-and p.R765C instead of c.2281C>T and p.R761W as mentioned Comment -!-in the article. // ID GUCY2D_P701S(1); standard; MUTATION; PK Accession K00967 Systematic name g.8551C>T, c.2101C>T, r.2101c>u, p.Pro701Ser Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 16272259 RefAuthors Booij, J. C., Florijn, R. J., ten Brink, J. B., Loves, W., RefAuthors Meire, F., van Schooneveld, M. J., de Jong, P. T., Bergen, RefAuthors A. A. RefTitle Identification of mutations in the AIPL1, CRB1, GUCY2D, RefTitle RPE65, and RPGRIP1 genes in patients with juvenile RefTitle retinitis pigmentosa. RefLoc J Med Genet 42:e67 RefNumber [2] RefCrossRef PUBMED; 20683928 RefAuthors Coppieters, F., Casteels, I., Meire, F., De Jaegere, S., RefAuthors Hooghe, S., van Regemorter, N., Van Esch, H., RefAuthors Matuleviciene, A., Nunes, L., Meersschaut, V., Walraedt, RefAuthors S., Standaert, L., Coucke, P., Hoeben, H., Kroes, H. Y., RefAuthors Vande Walle, J., de Ravel, T., Leroy, B. P., De Baere, E. RefTitle Genetic screening of LCA in Belgium: predominance of RefTitle CEP290 and identification of potential modifier alleles in RefTitle AHI1 of CEP290-related phenotypes. RefLoc Hum Mutat 31:E1709-66 RefNumber [6] RefCrossRef PUBMED; 17200655 RefAuthors Yoshida, S., Yamaji, Y., Yoshida, A., Kuwahara, R., RefAuthors Yamamoto, K., Kubata, T., Ishibashi, T. RefTitle Novel triple missense mutations of GUCY2D gene in Japanese RefTitle family with cone-rod dystrophy: possible use of genotyping RefTitle microarray. RefLoc Mol Vis 12:1558-64 RefNumber [8] RefCrossRef PUBMED; 17724218 RefAuthors Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, RefAuthors E., Bianchi, P. E., Fossarello, M., Signorini, S., RefAuthors Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., RefAuthors Ciccodicola, A., Rinaldi, E., Auricchio, A., Banfi, S. RefTitle Clinical and molecular genetics of Leber's congenital RefTitle amaurosis: a multicenter study of Italian patients. RefLoc Invest Ophthalmol Vis Sci 48:4284-90 RefNumber [12] RefCrossRef PUBMED; 18055816 RefAuthors Vallespin, E., Cantalapiedra, D., Riveiro-Alvarez, R., RefAuthors Wilke, R., Aguirre-Lamban, J., Avila-Fernandez, A., Lopez- RefAuthors Martinez, M. A., Gimenez, A., Trujillo-Tiebas, M. J., RefAuthors Ramos, C., Ayuso, C. RefTitle Mutation screening of 299 Spanish families with retinal RefTitle dystrophies by Leber congenital amaurosis genotyping RefTitle microarray. RefLoc Invest Ophthalmol Vis Sci 48:5653-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 8551 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2174 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 701 Feature /change: P -> S Feature /domain: PK Diagnosis Leber congenital amaurosis Diagnosis Cone-rod dystrophy Occurrence Families: 10; Patients: 11; Homozygotes: 1 Comment -!-Autosomal recessive retinitis pigmentosa(ARRP) Comment -!-Autosomal dominant progressive cone degeneration. // ID GUCY2D_R795Q(1); standard; MUTATION; PK Accession K00968 Systematic name g.9957G>A, c.2384G>A, r.2384g>a, p.Arg795Gln Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 17724218 RefAuthors Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, RefAuthors E., Bianchi, P. E., Fossarello, M., Signorini, S., RefAuthors Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., RefAuthors Ciccodicola, A., Rinaldi, E., Auricchio, A., Banfi, S. RefTitle Clinical and molecular genetics of Leber's congenital RefTitle amaurosis: a multicenter study of Italian patients. RefLoc Invest Ophthalmol Vis Sci 48:4284-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 9957 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 2457 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 795 Feature /change: R -> Q Feature /domain: PK Diagnosis Leber congenital amaurosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID GUCY2D_P575L(1); standard; MUTATION; PK Accession K00969 Systematic name g.6888C>T, c.1724C>T, r.1724c>u, p.Pro575Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 18332321 RefAuthors Small, K. W., Silva-Garcia, R., Udar, N., Nguyen, E. V., RefAuthors Heckenlively, J. R. RefTitle New mutation, P575L, in the GUCY2D gene in a family with RefTitle autosomal dominant progressive cone degeneration. RefLoc Arch Ophthalmol 126:397-403 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: AJ222657: 6888 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M92432; GI:1345920; HSRETGC : 1797 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CYGD_HUMAN: 575 Feature /change: P -> L Feature /domain: PK Diagnosis Cone-rod dystrophy Occurrence Families: 1; Patients: 14; Homozygotes: 0 Comment -!-Autosomal dominant progressive cone degeneration. // ID ACVRL1_@T387X416(1); standard; MUTATION; PK Accession K00970 Systematic name g.4671_4672insA, c.1158_1159insA, r.1158_1159insa, Systematic name p.Thr387fsX4 Description A frame shift insertion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 20414677 RefAuthors Richards-Yutz, J., Grant, K., Chao, E. C., Walther, S. E., RefAuthors Ganguly, A. RefTitle Update on molecular diagnosis of hereditary hemorrhagic RefTitle telangiectasia. RefLoc Hum Genet 128:61-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: ACVRL1_DNA: 4672 Feature /change: +a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1441 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 387 Feature /change: T -> NGLLX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_N341K(1); standard; MUTATION; PK Accession K00971 Systematic name g.4001C>G, c.1023C>G, r.1023c>g, p.Asn341Lys Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4001 Feature /change: c -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1305 Feature /codon: aac -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 341 Feature /change: N -> K Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_G402S(1); standard; MUTATION; PK Accession K00972 Systematic name g.4717G>A, c.1204G>A, r.1204g>a, p.Gly402Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 16470787 RefAuthors Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, RefAuthors S., Miller, F., Chou, L. S., Gedge, F., Tang, W., Coon, RefAuthors H., Mao, R. RefTitle Genotype-phenotype correlation in hereditary hemorrhagic RefTitle telangiectasia: mutations and manifestations. RefLoc Am J Med Genet A 140:463-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4717 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1486 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 402 Feature /change: G -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_I485F(1); standard; MUTATION; PK Accession K00973 Systematic name g.9360A>T, c.1453A>T, r.1453a>u, p.Ile485Phe Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [12] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9360 Feature /change: a -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1735 Feature /codon: atc -> ttc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 485 Feature /change: I -> F Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: // ID ACVRL1_R454W(1); standard; MUTATION; PK Accession K00974 Systematic name g.7624C>T, c.1360C>T, r.1360c>u, p.Arg454Trp Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [12] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7624 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1642 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 454 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_R386C(1); standard; MUTATION; PK Accession K00975 Systematic name g.4669C>T, c.1156C>T, r.1156c>u, p.Arg386Cys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [12] RefCrossRef PUBMED; 20501893 RefAuthors Ricard, N., Bidart, M., Mallet, C., Lesca, G., Giraud, S., RefAuthors Prudent, R., Feige, J. J., Bailly, S. RefTitle Functional analysis of the BMP9 response of ALK1 mutants RefTitle from HHT2 patients: a diagnostic tool for novel ACVRL1 RefTitle mutations. RefLoc Blood 116:1604-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4669 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1438 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 386 Feature /change: R -> C Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@A372X398(1); standard; MUTATION; PK Accession K00976 Systematic name g.154465dupT, c.1113dupT, r.1113dupu, p.Ala372fsX26 Description A frame shift duplication mutation in the exon 8 leading to Description a premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [13] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 154466 Feature /change: +t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1495 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 372 Feature /change: A -> CSHKRGWHYQ IYGTRSARRS CELEGLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@H324X326(1); standard; MUTATION; PK Accession K00977 Systematic name g.154321dupT, c.969dupT, r.969dupu, p.His324fsX2 Description A frame shift duplication mutation in the exon 8 leading to Description a premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [13] RefCrossRef PUBMED; 16717148 RefAuthors Elliott, C. G., Glissmeyer, E. W., Havlena, G. T., RefAuthors Carlquist, J., McKinney, J. T., Rich, S., McGoon, M. D., RefAuthors Scholand, M. B., Kim, M., Jensen, R. L., Schmidt, J. W., RefAuthors Ward, K. RefTitle Relationship of BMPR2 mutations to vasoreactivity in RefTitle pulmonary arterial hypertension. RefLoc Circulation 113:2509-15 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 154322 Feature /change: +t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1351 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 324 Feature /change: H -> SLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_@G563X596(1); standard; MUTATION; PK2 Accession K00978 Systematic name g.103124dupT, c.1686dupT, r.1686dupu, p.Gly563fsX33 Description A frame shift duplication mutation in the exon 18 leading Description to a premature stop codon in the PK2 domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103125 Feature /change: +t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1687 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 563 Feature /change: G -> WLCKTAESGK WSSHDSLLHC KFCCTRGFKK TRLX Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_@Q593X596(1); standard; MUTATION; PK2 Accession K00979 Systematic name g.105074_105075insC, c.1778_1779insC, r.1778_1779insc, Systematic name p.Gln593fsX3 Description A frame shift insertion mutation in the exon 19 leading to Description a premature stop codon in the PK2 domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 16879200 RefAuthors Delaunoy, J. P., Dubos, A., Marques Pereira, P., Hanauer, RefAuthors A. RefTitle Identification of novel mutations in the RSK2 RefTitle gene (RPS6KA3) in patients with Coffin-Lowry syndrome. RefLoc Clin Genet 70:161-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 105075 Feature /change: +c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1779 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 593 Feature /change: Q -> HRLX Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_R443C(1); standard; MUTATION; PK Accession K00980 Systematic name g.166033C>T, c.1327C>T, r.1327c>u, p.Arg443Cys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 18823382 RefAuthors Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, RefAuthors J., Larsen-Haidle, J., Howe, J. R. RefTitle The rate of germline mutations and large deletions of RefTitle SMAD4 and BMPR1A in juvenile polyposis. RefLoc Clin Genet 75:79-85 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 166033 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1636 Feature /codon: cgt -> tgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 443 Feature /change: R -> C Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#I288X295(1); standard; MUTATION; PK Accession K00981 Systematic name g.161675delA, c.864delA, r.864dela, p.Gly290fsX2 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 18823382 RefAuthors Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, RefAuthors J., Larsen-Haidle, J., Howe, J. R. RefTitle The rate of germline mutations and large deletions of RefTitle SMAD4 and BMPR1A in juvenile polyposis. RefLoc Clin Genet 75:79-85 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 161675 Feature /change: -a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1173 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 288 Feature /change: I -> ILVSX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_@L307X311(1); standard; MUTATION; PK Accession K00982 Systematic name g.163574_163575insA, c.918_919insA, r.918_919insa, Systematic name p.Leu307fsX3 Description A frame shift insertion mutation in the exon 10 leading to Description a premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 18823382 RefAuthors Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, RefAuthors J., Larsen-Haidle, J., Howe, J. R. RefTitle The rate of germline mutations and large deletions of RefTitle SMAD4 and BMPR1A in juvenile polyposis. RefLoc Clin Genet 75:79-85 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: BMPR1A_DNA: 163575 Feature /change: +a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1228 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 307 Feature /change: L -> IDYX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#K355X363(1); standard; MUTATION; PK Accession K00983 Systematic name g.163720delA, c.1064delA, r.1064dela, p.Lys355fsX8 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 18823382 RefAuthors Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, RefAuthors J., Larsen-Haidle, J., Howe, J. R. RefTitle The rate of germline mutations and large deletions of RefTitle SMAD4 and BMPR1A in juvenile polyposis. RefLoc Clin Genet 75:79-85 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 163720 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1373 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 355 Feature /change: K -> SPQLLIETX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#Q353X363(1); standard; MUTATION; PK Accession K00984 Systematic name g.163715delA, c.1059delA, r.1059dela, p.Gly354fsX9 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 18823382 RefAuthors Calva-Cerqueira, D., Chinnathambi, S., Pechman, B., Bair, RefAuthors J., Larsen-Haidle, J., Howe, J. R. RefTitle The rate of germline mutations and large deletions of RefTitle SMAD4 and BMPR1A in juvenile polyposis. RefLoc Clin Genet 75:79-85 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 163715 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1368 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 353 Feature /change: Q -> QESPQLLIET X Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E386K(1); standard; MUTATION; PK Accession K00985 Systematic name g.156138G>A, c.1156G>A, r.1156g>a, p.Glu386Lys Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [16] RefCrossRef PUBMED; 18503968 RefAuthors Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. RefAuthors K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, RefAuthors N. K., Mallory, N. C., Rich, S., Diamond, B., Barst, R. J. RefTitle Clinical implications of determining BMPR2 mutation status RefTitle in a large cohort of children and adults with pulmonary RefTitle arterial hypertension. RefLoc J Heart Lung Transplant 27:668-74 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156138 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1537 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 386 Feature /change: E -> K Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Nucleotide change differ(p.E386K)from the article (p.E386Q) // ID BMPR1A_@G354X380(1); standard; MUTATION; PK Accession K00986 Systematic name g.163717G>C, c.1061G>C, r.1061g>c, p.Gly354Ala Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [17] RefCrossRef PUBMED; 16436638 RefAuthors Pyatt, R. E., Pilarski, R., Prior, T. W. RefTitle Mutation screening in juvenile polyposis syndrome. RefLoc J Mol Diagn 8:84-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 163717 Feature /change: g -> c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1370 Feature /codon: gga -> gca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 354 Feature /change: G -> A Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_W217X(1); standard; MUTATION; PK Accession K00987 Systematic name g.2990G>A, c.651G>A, r.651g>a, p.Trp217X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 2990 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 933 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 217 Feature /change: W -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_G219D(1); standard; MUTATION; PK Accession K00988 Systematic name g.2995G>A, c.656G>A, r.656g>a, p.Gly219Asp Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 RefNumber [6] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 2995 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 938 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 219 Feature /change: G -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_I260L(1); standard; MUTATION; PK Accession K00989 Systematic name g.3756A>C, c.778A>C, r.778a>c, p.Ile260Leu Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3756 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1060 Feature /codon: atc -> ctc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 260 Feature /change: I -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_F331S(1); standard; MUTATION; PK Accession K00990 Systematic name g.3970T>C, c.992T>C, r.992u>c, p.Phe331Ser Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3970 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1274 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 331 Feature /change: F -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_Y426C(1); standard; MUTATION; PK Accession K00991 Systematic name g.7541A>G, c.1277A>G, r.1277a>g, p.Tyr426Cys Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7541 Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1559 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 426 Feature /change: Y -> C Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P433R(1); standard; MUTATION; PK Accession K00992 Systematic name g.7562C>G, c.1298C>G, r.1298c>g, p.Pro433Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7562 Feature /change: c -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1580 Feature /codon: ccc -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 433 Feature /change: P -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#K440-1(1); standard; MUTATION; PK Accession K00993 Systematic name g.7582delA, c.1318delA, r.1318dela, p.Lys440fsX24 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 7582 Feature /change: -a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1600 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 440 Feature /change: K -> RWCVWISRPP PSLTGWLQTR SSQAX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_C471X(1); standard; MUTATION; PK Accession K00994 Systematic name g.9320C>A, c.1413C>A, r.1413c>a, p.Cys471X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9320 Feature /change: c -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1695 Feature /codon: tgc -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 471 Feature /change: C -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_@I485X493(1); standard; MUTATION; PK Accession K00995 Systematic name g.9360dupA, c.1453dupA, r.1453dupa, p.Ile485fsX8 Description A frame shift duplication mutation in the exon 9 leading to Description a premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 16752392 RefAuthors Bossler, A. D., Richards, J., George, C., Godmilow, L., RefAuthors Ganguly, A. RefTitle Novel mutations in ENG and ACVRL1 identified in a series RefTitle of 200 individuals undergoing clinical genetic testing for RefTitle hereditary hemorrhagic telangiectasia (HHT): correlation RefTitle of genotype with phenotype. RefLoc Hum Mutat 27:667-75 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ACVRL1_DNA: 9361 Feature /change: +a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1736 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 485 Feature /change: I -> NQEDTTKNX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_#G354X363(1); standard; MUTATION; PK Accession K00996 Systematic name g.163717delG, c.1061delG, r.1061delg, p.Gly354fsX9 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [20] RefCrossRef PUBMED; 18178612 RefAuthors van Hattem, W. A., Brosens, L. A., de Leng, W. W., RefAuthors Morsink, F. H., Lens, S., Carvalho, R., Giardiello, F. M., RefAuthors Offerhaus, G. J. RefTitle Large genomic deletions of SMAD4, BMPR1A and PTEN in RefTitle juvenile polyposis. RefLoc Gut 57:623-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR1A_DNA: 163717 Feature /change: -g Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1370 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMRA_HUMAN: 354 Feature /change: G -> ESPQLLIETX Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1A_R480W(1); standard; MUTATION; PK Accession K00997 Systematic name g.167824C>T, c.1438C>T, r.1438c>u, p.Arg480Trp Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [20] RefCrossRef PUBMED; 18178612 RefAuthors van Hattem, W. A., Brosens, L. A., de Leng, W. W., RefAuthors Morsink, F. H., Lens, S., Carvalho, R., Giardiello, F. M., RefAuthors Offerhaus, G. J. RefTitle Large genomic deletions of SMAD4, BMPR1A and PTEN in RefTitle juvenile polyposis. RefLoc Gut 57:623-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 167824 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1747 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 480 Feature /change: R -> W Feature /domain: PK Diagnosis Juvenile polyposis syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_W504X(1); standard; MUTATION; PK Accession K00998 Systematic name g.82621G>A, c.1511G>A, r.1511g>a, p.Trp504X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [21] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 82621 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3083 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 504 Feature /change: W -> X Feature /domain: PK Diagnosis Hereditary nonpolyposis colorectal cancer Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_R378G(1); standard; MUTATION; PK Accession K00999 Systematic name g.66438A>G, c.1132A>G, r.1132a>g, p.Arg378Gly Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [22] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66438 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2704 Feature /codon: agg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 378 Feature /change: R -> G Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_W521X(1); standard; MUTATION; PK Accession K01000 Systematic name g.85580G>A, c.1562G>A, r.1562g>a, p.Trp521X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [22] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 85580 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 3134 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGR2_HUMAN: 521 Feature /change: W -> X Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_M425V(1); standard; MUTATION; PK Accession K01001 Systematic name g.68246A>G, c.1273A>G, r.1273a>g, p.Met425Val Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 05-Jul-2011 (Rel. 3, Created) Date 05-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [22] RefCrossRef PUBMED; 18781618 RefAuthors Stheneur, C., Collod-Beroud, G., Faivre, L., Gouya, L., RefAuthors Sultan, G., Le Parc, J. M., Moura, B., Attias, D., Muti, RefAuthors C., Sznajder, M., Claustres, M., Junien, C., Baumann, C., RefAuthors Cormier-Daire, V., Rio, M., Lyonnet, S., Plauchu, H., RefAuthors Lacombe, D., Chevallier, B., Jondeau, G., Boileau, C. RefTitle Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations RefTitle and genotype-phenotype investigations in 457 patients with RefTitle Marfan syndrome type I and II, Loeys-Dietz syndrome and RefTitle related disorders. RefLoc Hum Mutat 29:E284-95 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68246 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2845 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 425 Feature /change: M -> V Feature /domain: PK Diagnosis Loeys-Dietz syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@G220X224(1); standard; MUTATION; PK Accession K01002 Systematic name g.142385dupG, c.659dupG, r.659dupg, p.Ser221fsX3 Description A frame shift duplication mutation in the exon 6 leading to Description a premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 142386 Feature /change: +g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1041 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 220 Feature /change: G -> GLLGX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E265G(1); standard; MUTATION; PK Accession K01003 Systematic name g.142520A>G, c.794A>G, r.794a>g, p.Glu265Gly Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142520 Feature /change: a -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1175 Feature /codon: gag -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 265 Feature /change: E -> G Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_R266T(1); standard; MUTATION; PK Accession K01004 Systematic name g.142523G>C, c.797G>C, r.797g>c, p.Arg266Thr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142523 Feature /change: g -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1178 Feature /codon: aga -> aca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 266 Feature /change: R -> T Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_A269S(1); standard; MUTATION; PK Accession K01005 Systematic name g.142531G>T, c.805G>T, r.805g>u, p.Ala269Ser Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142531 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1186 Feature /codon: gca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 269 Feature /change: A -> S Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change (c.805G>T and Comment -!-p.A269S) differs from the reference article (c.806G>T and Comment -!-p.A268V. // ID BMPR2_G311E(1); standard; MUTATION; PK Accession K01006 Systematic name g.143692G>A, c.932G>A, r.932g>a, p.Gly311Glu Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143692 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1313 Feature /codon: gga -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 311 Feature /change: G -> E Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_C397X(2); standard; MUTATION; PK Accession K01007 Systematic name g.156171delT, c.1189delT, r.1189delu, p.Cys397fsX4 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 RefNumber [3] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156171 Feature /change: -t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1570 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 397 Feature /change: C -> VNQLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The amino acid change differ(p.C397X) from the reference Comment -!-article(p.C347X) // ID BMPR2_#R365X374(1); standard; MUTATION; PK Accession K01008 Systematic name g.154445delC, c.1093delC, r.1093delc, p.Arg365fsX9 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154445 Feature /change: -c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1474 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 365 Feature /change: R -> AQGRKIMQPX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#D405X411(1); standard; MUTATION; PK Accession K01009 Systematic name g.156196delA, c.1214delA, r.1214dela, p.Asp405fsX6 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156196 Feature /change: -a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1595 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 405 Feature /change: D -> ACMLLDX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#I416X417(1); standard; MUTATION; PK Accession K01010 Systematic name g.156230delA, c.1248delA, r.1248dela, p.Phe417fsX1 Description A frame shift deletion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 156230 Feature /change: -a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1629 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 416 Feature /change: I -> ILX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@F424X447(2); standard; MUTATION; PK Accession K01011 Systematic name g.156253T>C, c.1271T>C, r.1271u>c, p.Phe424Ser Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156253 Feature /change: t -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1652 Feature /codon: ttc -> tcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 424 Feature /change: F -> S Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_D487V(1); standard; MUTATION; PK Accession K01012 Systematic name g.176288A>T, c.1460A>T, r.1460a>u, p.Asp487Val Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19555857 RefAuthors Machado, R. D., Eickelberg, O., Elliott, C. G., Geraci, M. RefAuthors W., Hanaoka, M., Loyd, J. E., Newman, J. H., Phillips, J. RefAuthors A., Soubrier, F., Trembath, R. C., Chung, W. K. RefTitle Genetics and genomics of pulmonary arterial hypertension. RefLoc J Am Coll Cardiol 54:S32-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176288 Feature /change: a -> t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1841 Feature /codon: gat -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 487 Feature /change: D -> V Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_C496Y(1); standard; MUTATION; PK Accession K01013 Systematic name g.176315G>A, c.1487G>A, r.1487g>a, p.Cys496Tyr Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176315 Feature /change: g -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1868 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 496 Feature /change: C -> Y Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The amino acid change differs(p.C496Y) from the reference Comment -!-article(p.R496Y) // ID BMPR2_@S221X224(1); standard; MUTATION; PK Accession K01014 Systematic name g.142386_142387insG, c.660_661insG, r.660_661insg, Systematic name p.Ser221fsX3 Description A frame shift insertion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: BMPR2_DNA: 142387 Feature /change: +g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1042 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 221 Feature /change: S -> VLGX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@L222X230(1); standard; MUTATION; PK Accession K01015 Systematic name g.142390T>A, c.664T>A, r.664u>a, p.Leu222Met Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142390 Feature /change: t -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1045 Feature /codon: ttg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 222 Feature /change: L -> M Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#D264X278(1); standard; MUTATION; PK Accession K01016 Systematic name g.142516delG, c.790delG, r.790delg, p.Asp264fsX14 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 142516 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1171 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 264 Feature /change: D -> MRESLQMDAW NICLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_M273R(1); standard; MUTATION; PK Accession K01017 Systematic name g.142544T>G, c.818T>G, r.818u>g, p.Met273Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 142544 Feature /change: t -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1199 Feature /codon: atg -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 273 Feature /change: M -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#G285X291(1); standard; MUTATION; PK Accession K01018 Systematic name g.143615delA, c.855delA, r.855dela, p.Ser286fsX5 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 143615 Feature /change: -a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1236 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 285 Feature /change: G -> GLYASIX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_L287X(1); standard; MUTATION; PK Accession K01019 Systematic name g.143620T>A, c.860T>A, r.860u>a, p.Leu287X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143620 Feature /change: t -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1241 Feature /codon: tta -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 287 Feature /change: L -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_R303H(1); standard; MUTATION; PK Accession K01020 Systematic name g.143668G>A, c.908G>A, r.908g>a, p.Arg303His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143668 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1289 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 303 Feature /change: R -> H Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_A313P(1); standard; MUTATION; PK Accession K01021 Systematic name g.143697G>C, c.937G>C, r.937g>c, p.Ala313Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 143697 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1318 Feature /codon: gct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 313 Feature /change: A -> P Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@D323X326(1); standard; MUTATION; PK Accession K01022 Systematic name g.154320dupA, c.968dupA, r.968dupa, p.Asp323fsX3 Description A frame shift duplication mutation in the exon 8 leading to Description a premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 154321 Feature /change: +a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1350 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 323 Feature /change: D -> ESLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#P327X334(1); standard; MUTATION; PK Accession K01023 Systematic name g.154332delC, c.980delC, r.980delc, p.Pro327fsX7 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154332 Feature /change: -c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1361 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 327 Feature /change: P -> LQFPIEIX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_C347R(1); standard; MUTATION; PK Accession K01024 Systematic name g.154391T>C, c.1039T>C, r.1039u>c, p.Cys347Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 154391 Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1420 Feature /codon: tgt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 347 Feature /change: C -> R Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#N371X374(1); standard; MUTATION; PK Accession K01025 Systematic name g.154465delT, c.1113delT, r.1113delu, p.Asn371fsX3 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154465 Feature /change: -t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1494 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 371 Feature /change: N -> KQPX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_I374X(1); standard; MUTATION; PK Accession K01026 Systematic name g.154472delA, c.1120delA, r.1120dela, p.Ile374X Description A deletion mutation in the exon 8 leading to a premature Description stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 154472 Feature /change: -a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1501 Feature /codon: ata -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 374 Feature /change: I -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_S399X(1); standard; MUTATION; PK Accession K01027 Systematic name g.156178C>G, c.1196C>G, r.1196c>g, p.Ser399X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156178 Feature /change: c -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1577 Feature /codon: tca -> tga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 399 Feature /change: S -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_L401S(1); standard; MUTATION; PK Accession K01028 Systematic name g.156184T>C, c.1202T>C, r.1202u>c, p.Leu401Ser Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156184 Feature /change: t -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1583 Feature /codon: ttg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 401 Feature /change: L -> S Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_W414X(1); standard; MUTATION; PK Accession K01029 Systematic name g.156223G>A, c.1241G>A, r.1241g>a, p.Trp414X Description A point mutation in the exon 9 leading to a premature stop Description codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156223 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1622 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 414 Feature /change: W -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@I416X447(1); standard; MUTATION; PK Accession K01030 Systematic name g.156228_156229insG, c.1246_1247insG, r.1246_1247insg, Systematic name p.Ile416fsX31 Description A frame shift insertion mutation in the exon 9 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: BMPR2_DNA: 156229 Feature /change: +g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1628 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 416 Feature /change: I -> SIYEMYRPLP RGIRTRVPDG FSDRGWKPSH FX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#T438X472(1); standard; MUTATION; PK Accession K01031 Systematic name g.165873delC, c.1313delC, r.1313delc, p.Thr438fsX35 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [3] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 165873 Feature /change: -c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1694 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 438 Feature /change: T -> KRLETIPLLR ICRFSCLGKN RDPSSQKPGK KIAWQX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR2_Q450X(1); standard; MUTATION; PK Accession K01032 Systematic name g.165908C>T, c.1348C>T, r.1348c>u, p.Gln450X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [3] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 165908 Feature /change: c -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1729 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 450 Feature /change: Q -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_E386G(1); standard; MUTATION; PK Accession K01033 Systematic name g.156139A>G, c.1157A>G, r.1157a>g, p.Glu386Gly Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 156139 Feature /change: a -> g Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1538 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 386 Feature /change: E -> G Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_@E464X470(1); standard; MUTATION; PK Accession K01034 Systematic name g.165949dupA, c.1389dupA, r.1389dupa, p.Glu464fsX6 Description A frame shift duplication mutation in the exon 10 leading Description to a premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: BMPR2_DNA: 165950 Feature /change: +a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1771 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 464 Feature /change: E -> RSLERKX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_Q495X(1); standard; MUTATION; PK Accession K01035 Systematic name g.176311C>T, c.1483C>T, r.1483c>u, p.Gln495X Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 15591269 RefAuthors Koehler, R., Grunig, E., Pauciulo, M. W., Hoeper, M. M., RefAuthors Olschewski, H., Wilkens, H., Halank, M., Winkler, J., RefAuthors Ewert, R., Bremer, H., Kreuscher, S., Janssen, B., RefAuthors Nichols, W. C. RefTitle Low frequency of BMPR2 mutations in a German cohort of RefTitle patients with sporadic idiopathic pulmonary arterial RefTitle hypertension. RefLoc J Med Genet 41:e127 RefNumber [6] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176311 Feature /change: c -> t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1864 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 495 Feature /change: Q -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_S475X(1); standard; MUTATION; PK Accession K01036 Systematic name g.176252C>A, c.1424C>A, r.1424c>a, p.Ser475X Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176252 Feature /change: c -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1805 Feature /codon: tca -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 475 Feature /change: S -> X Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR2_#L476X505(1); standard; MUTATION; PK Accession K01037 Systematic name g.176255delT, c.1427delT, r.1427delu, p.Leu476fsX29 Description A frame shift deletion mutation in the exon 11 leading to a Description premature stop codon in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: BMPR2_DNA: 176255 Feature /change: -t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1808 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BMR2_HUMAN: 476 Feature /change: L -> PRRQSKTVGT RMQRLGLLHS VLRKGWLNLX Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Nucleotide change differc(c.1427delT) from the reference Comment -!-article (c.1426delT) // ID BMPR2_E503D(1); standard; MUTATION; PK Accession K01038 Systematic name g.176337A>C, c.1509A>C, r.1509a>c, p.Glu503Asp Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429395 RefAuthors Machado, R. D., Aldred, M. A., James, V., Harrison, R. E., RefAuthors Patel, B., Schwalbe, E. C., Gruenig, E., Janssen, B., RefAuthors Koehler, R., Seeger, W., Eickelberg, O., Olschewski, H., RefAuthors Elliott, C. G., Glissmeyer, E., Carlquist, J., Kim, M., RefAuthors Torbicki, A., Fijalkowska, A., Szewczyk, G., Parma, J., RefAuthors Abramowicz, M. J., Galie, N., Morisaki, H., Kyotani, S., RefAuthors Nakanishi, N., Morisaki, T., Humbert, M., Simonneau, G., RefAuthors Sitbon, O., Soubrier, F., Coulet, F., Morrell, N. W., RefAuthors Trembath, R. C. RefTitle Mutations of the TGF-beta type II receptor BMPR2 in RefTitle pulmonary arterial hypertension. RefLoc Hum Mutat 27:121-32 RefNumber [6] RefCrossRef PUBMED; 15358693 RefAuthors Roberts, K. E., McElroy, J. J., Wong, W. P., Yen, E., RefAuthors Widlitz, A., Barst, R. J., Knowles, J. A., Morse, J. H. RefTitle BMPR2 mutations in pulmonary arterial hypertension with RefTitle congenital heart disease. RefLoc Eur Respir J 24:371-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR2_DNA: 176337 Feature /change: a -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z48923; GI:12643724; HSBMPRII: 1890 Feature /codon: gaa -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR2_HUMAN: 503 Feature /change: E -> D Feature /domain: PK Diagnosis Primary pulmonary hypertension Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_L769L(1); standard; MUTATION; PK Accession K01040 Systematic name g.42332G>T, c.2307G>T, r.2307g>u, p.Leu769Leu Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 21134561 RefAuthors Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., RefAuthors Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. RefAuthors J. RefTitle Single nucleotide polymorphisms act as modifiers and RefTitle correlate with the development of medullary and RefTitle simultaneous medullary/papillary thyroid carcinomas in 2 RefTitle large, non-related families with the RET V804M proto- RefTitle oncogene mutation. RefLoc Surgery 148:1274-80; discussion 1280-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42332 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2502 Feature /codon: ctg -> ctt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 769 Feature /change: L -> L Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 2; Patients: 22; Homozygotes: 9 Comment -!-Single nucleotide polymorphisms(SNPs)analysis in Comment -!-correlation to pathology results in 2families. Silent Comment -!-Mutation // ID RET_S836I(1); standard; MUTATION; PK Accession K01042 Systematic name g.43582G>T, c.2507G>T, r.2507g>u, p.Ser836Ile Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 06-Jul-2011 (Rel. 3, Created) Date 06-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 21134561 RefAuthors Shifrin, A. L., Ogilvie, J. B., Stang, M. T., Fay, A. M., RefAuthors Kuo, Y. H., Matulewicz, T., Xenachis, C. Z., Vernick, J. RefAuthors J. RefTitle Single nucleotide polymorphisms act as modifiers and RefTitle correlate with the development of medullary and RefTitle simultaneous medullary/papillary thyroid carcinomas in 2 RefTitle large, non-related families with the RET V804M proto- RefTitle oncogene mutation. RefLoc Surgery 148:1274-80; discussion 1280-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43582 Feature /change: g -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2702 Feature /codon: agc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 836 Feature /change: S -> I Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 3; Homozygotes: 0 Comment -!-Single nucleotide polymorphisms(SNPs)analysis in Comment -!-correlation to pathology results in 2families. Nucleotide Comment -!-and amino acid change differs(c.2507G>T and p.S836I) from Comment -!-the reference article(c.2508G>T and p.S836S) // ID RET_R820C(1); standard; MUTATION; PK Accession K01043 Systematic name g.43533C>T, c.2458C>T, r.2458c>u, p.Arg820Cys Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 07-Jul-2011 (Rel. 3, Created) Date 07-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 20373984 RefAuthors Pazaitou-Panayiotou, K., Giatzakis, C., Koutsodontis, G., RefAuthors Vratimos, A., Chrisoulidou, A., Konstantinidis, T., RefAuthors Kamakari, S. RefTitle Identification of two novel mutations in the RET proto- RefTitle oncogene in the same family. RefLoc Thyroid 20:401-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43533 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2653 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 820 Feature /change: R -> C Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID RET_R770Q(1); standard; MUTATION; PK Accession K01044 Systematic name g.42334G>A, c.2309G>A, r.2309g>a, p.Arg770Gln Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 07-Jul-2011 (Rel. 3, Created) Date 07-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 20013610 RefAuthors Frank-Raue, K., Dohring, J., Scheumann, G., Rondot, S., RefAuthors Lorenz, A., Schulze, E., Dralle, H., Raue, F., Leidig- RefAuthors Bruckner, G. RefTitle New mutations in the RET protooncogene-L881V - associated RefTitle with medullary thyroid carcinoma and -R770Q - in a patient RefTitle with mixed medullar/follicular thyroid tumour. RefLoc Exp Clin Endocrinol Diabetes 118:550-3 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42334 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2504 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 770 Feature /change: R -> Q Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 3; Homozygotes: 0 Comment -!-Heredity medullary thyroid carcinoma // ID RET_L881V(1); standard; MUTATION; PK Accession K01045 Systematic name g.44051C>G, c.2641C>G, r.2641c>g, p.Leu881Val Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 07-Jul-2011 (Rel. 3, Created) Date 07-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 20013610 RefAuthors Frank-Raue, K., Dohring, J., Scheumann, G., Rondot, S., RefAuthors Lorenz, A., Schulze, E., Dralle, H., Raue, F., Leidig- RefAuthors Bruckner, G. RefTitle New mutations in the RET protooncogene-L881V - associated RefTitle with medullary thyroid carcinoma and -R770Q - in a patient RefTitle with mixed medullar/follicular thyroid tumour. RefLoc Exp Clin Endocrinol Diabetes 118:550-3 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44051 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2836 Feature /codon: ctg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 881 Feature /change: L -> V Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-Heredity medullary thyroid carcinoma // ID STK11_C210C(1); standard; MUTATION; PK Accession K01046 Systematic name g.14700C>T, c.630C>T, r.630c>u, p.Cys210Cys Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 12-Jul-2011 (Rel. 3, Created) Date 12-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17088437 RefAuthors Ikediobi, O. N., Davies, H., Bignell, G., Edkins, S., RefAuthors Stevens, C., O'Meara, S., Santarius, T., Avis, T., RefAuthors Barthorpe, S., Brackenbury, L., Buck, G., Butler, A., RefAuthors Clements, J., Cole, J., Dicks, E., Forbes, S., Gray, K., RefAuthors Halliday, K., Harrison, R., Hills, K., Hinton, J., Hunter, RefAuthors C., Jenkinson, A., Jones, D., Kosmidou, V., Lugg, R., RefAuthors Menzies, A., Mironenko, T., Parker, A., Perry, J., Raine, RefAuthors K., Richardson, D., Shepherd, R., Small, A., Smith, R., RefAuthors Solomon, H., Stephens, P., Teague, J., Tofts, C., Varian, RefAuthors J., Webb, T., West, S., Widaa, S., Yates, A., Reinhold, RefAuthors W., Weinstein, J. N., Stratton, M. R., Futreal, P. A., RefAuthors Wooster, R. RefTitle Mutation analysis of 24 known cancer genes in the NCI-60 RefTitle cell line set. RefLoc Mol Cancer Ther 5:2606-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14700 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 968 Feature /codon: tgc -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 210 Feature /change: C -> C Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_S428F(1); standard; MUTATION; PK Accession K01047 Systematic name g.50491C>T, c.1283C>T, r.1283c>u, p.Ser428Phe Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 15649950 RefAuthors Shaag, A., Walsh, T., Renbaum, P., Kirchhoff, T., Nafa, RefAuthors K., Shiovitz, S., Mandell, J. B., Welcsh, P., Lee, M. K., RefAuthors Ellis, N., Offit, K., Levy-Lahad, E., King, M. C. RefTitle Functional and genomic approaches reveal an ancient CHEK2 RefTitle allele associated with breast cancer in the Ashkenazi RefTitle Jewish population. RefLoc Hum Mol Genet 14:555-63 RefNumber [3] RefCrossRef PUBMED; 18085035 RefAuthors Laitman, Y., Kaufman, B., Lahad, E. L., Papa, M. Z., RefAuthors Friedman, E. RefTitle Germline CHEK2 mutations in Jewish Ashkenazi women at high RefTitle risk for breast cancer. RefLoc Isr Med Assoc J 9:791-6 RefNumber [7] RefCrossRef PUBMED; 18571837 RefAuthors Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. RefAuthors M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., RefAuthors Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, RefAuthors L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, RefAuthors W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, RefAuthors W. D. RefTitle Identification and characterization of novel SNPs in CHEK2 RefTitle in Ashkenazi Jewish men with prostate cancer. RefLoc Cancer Lett 270:173-80 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 50491 Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1319 Feature /codon: tct -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 428 Feature /change: S -> F Feature /domain: PK Diagnosis Breast cancer Diagnosis Hereditary prostate cancer (HPC) Occurrence Families: 7; Patients: 17; Homozygotes: 0 Comment -!-SNPs in CHEK2 with Prostate cancer // ID CHEK2_Y424H(1); standard; MUTATION; PK Accession K01048 Systematic name g.50478T>C, c.1270T>C, r.1270u>c, p.Tyr424His Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 18085035 RefAuthors Laitman, Y., Kaufman, B., Lahad, E. L., Papa, M. Z., RefAuthors Friedman, E. RefTitle Germline CHEK2 mutations in Jewish Ashkenazi women at high RefTitle risk for breast cancer. RefLoc Isr Med Assoc J 9:791-6 RefNumber [6] RefCrossRef PUBMED; 18571837 RefAuthors Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. RefAuthors M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., RefAuthors Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, RefAuthors L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, RefAuthors W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, RefAuthors W. D. RefTitle Identification and characterization of novel SNPs in CHEK2 RefTitle in Ashkenazi Jewish men with prostate cancer. RefLoc Cancer Lett 270:173-80 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 50478 Feature /change: t -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1306 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 424 Feature /change: Y -> H Feature /domain: PK Diagnosis Breast cancer Occurrence Families: 5; Patients: 10; Homozygotes: 0 Comment -!-Polymorphic variant Comment -!-SNPs in CHEK2 with Prostate cancer // ID CHEK2_R406H(1); standard; MUTATION; PK Accession K01049 Systematic name g.49958G>A, c.1217G>A, r.1217g>a, p.Arg406His Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18706089 RefAuthors Novak, D. J., Chen, L. Q., Ghadirian, P., Hamel, N., RefAuthors Zhang, P., Rossiny, V., Cardinal, G., Robidoux, A., Tonin, RefAuthors P. N., Rousseau, F., Narod, S. A., Foulkes, W. D. RefTitle Identification of a novel CHEK2 variant and assessment of RefTitle its contribution to the risk of breast cancer in French RefTitle Canadian women. RefLoc BMC Cancer 8:239 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 49958 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1253 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 406 Feature /change: R -> H Feature /domain: PK Diagnosis Breast cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CHEK2_E394K(1); standard; MUTATION; PK Accession K01050 Systematic name g.49921G>A, c.1180G>A, r.1180g>a, p.Glu394Lys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18571837 RefAuthors Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. RefAuthors M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., RefAuthors Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, RefAuthors L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, RefAuthors W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, RefAuthors W. D. RefTitle Identification and characterization of novel SNPs in CHEK2 RefTitle in Ashkenazi Jewish men with prostate cancer. RefLoc Cancer Lett 270:173-80 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 49921 Feature /change: g -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1216 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 394 Feature /change: E -> K Feature /domain: PK Diagnosis Hereditary prostate cancer (HPC) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-SNPs in CHEK2 with Prostate cancer // ID CHEK2_D438Y(1); standard; MUTATION; PK Accession K01051 Systematic name g.50520G>T, c.1312G>T, r.1312g>u, p.Asp438Tyr Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18571837 RefAuthors Tischkowitz, M. D., Yilmaz, A., Chen, L. Q., Karyadi, D. RefAuthors M., Novak, D., Kirchhoff, T., Hamel, N., Tavtigian, S. V., RefAuthors Kolb, S., Bismar, T. A., Aloyz, R., Nelson, P. S., Hood, RefAuthors L., Narod, S. A., White, K. A., Ostrander, E. A., Isaacs, RefAuthors W. B., Offit, K., Cooney, K. A., Stanford, J. L., Foulkes, RefAuthors W. D. RefTitle Identification and characterization of novel SNPs in CHEK2 RefTitle in Ashkenazi Jewish men with prostate cancer. RefLoc Cancer Lett 270:173-80 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: CHEK2_DNA: 50520 Feature /change: g -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: BC004207; GI:6685284; BC004207: 1348 Feature /codon: gat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CHK2_HUMAN: 438 Feature /change: D -> Y Feature /domain: PK Diagnosis Hereditary prostate cancer (HPC) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-SNPs in CHEK2 with Prostate cancer // ID STK11_#R297X335(1); standard; MUTATION; PK Accession K01052 Systematic name g.16063delG, c.890delG, r.890delg, p.Arg297fsX38 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 15617552 RefAuthors Shinmura, K., Goto, M., Tao, H., Shimizu, S., Otsuki, Y., RefAuthors Kobayashi, H., Ushida, S., Suzuki, K., Tsuneyoshi, T., RefAuthors Sugimura, H. RefTitle A novel STK11 germline mutation in two siblings with Peutz- RefTitle Jeghers syndrome complicated by primary gastric cancer. RefLoc Clin Genet 67:81-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16063 Feature /change: -g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1228 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 297 Feature /change: R -> SSPSGRSGST AGSGRNILRL KHQCPSHRAQ TPRTGGAAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y118X(1); standard; MUTATION; PK Accession K01053 Systematic name g.12567C>G, c.354C>G, r.354c>g, p.Tyr118X Description A point mutation in the exon 2 leading to a premature stop Description codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12567 Feature /change: c -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 692 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 118 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID STK11_Y156X(1); standard; MUTATION; PK Accession K01054 Systematic name g.14463C>G, c.468C>G, r.468c>g, p.Tyr156X Description A point mutation in the exon 4 leading to a premature stop Description codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14463 Feature /change: c -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 806 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 156 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 5; Homozygotes: 0 // ID STK11_@I172X265(2); standard; MUTATION; PK Accession K01055 Systematic name g.14508_14509insT, c.513_514insT, r.513_514insu, Systematic name p.Ile172fsX93 Description A frame shift insertion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: STK11_DNA: 14509 Feature /change: +t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 852 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 172 Feature /change: I -> Feature /change: YCAQGHQAGE PAAHHRWHPQ NLRPGRGRGT APVRGGRHLP Feature /change: DQPGLPGFPA ARDCQRPGHL LRLQGGHLVG WGHPLQHHHG Feature /change: SVPLRRGQHL QVVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID STK11_#Q214X286(1); standard; MUTATION; PK Accession K01056 Systematic name g.14712delG, c.642delG, r.642delg, p.Gly215fsX71 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14712 Feature /change: -g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 980 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 214 Feature /change: Q -> Feature /change: QAPRLSSRPR LPTAWTPSPA SRWTSGRLGS PSTTSPRVCT Feature /change: PSKGTTSTSC LRTSGRGATP SRATVAPRSL TCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID STK11_@E223X287(1); standard; MUTATION; PK Accession K01057 Systematic name g.14736_14737insG, c.666_667insG, r.666_667insg, Systematic name p.Glu223fsX42 Description A frame shift insertion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: STK11_DNA: 14737 Feature /change: +g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1005 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 223 Feature /change: E -> Feature /change: GDCQRPGHLL RLQGGHLVGW GHPLQHHHGS VPLRRGQHLQ VVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID STK11_@G279X284(1); standard; MUTATION; PK Accession K01058 Systematic name g.15400_15401insC, c.835_836insC, r.835_836insc, Systematic name p.Gly279fsX5 Description A frame shift insertion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [7] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: STK11_DNA: 15401 Feature /change: +c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1174 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 279 Feature /change: G -> APPALX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 5; Patients: 11; Homozygotes: 0 // ID STK11_Y49X(1); standard; MUTATION; PK Accession K01059 Systematic name g.1147C>A, c.147C>A, r.147c>a, p.Tyr49X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1147 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 485 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 49 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L55X63(1); standard; MUTATION; PK Accession K01060 Systematic name g.1165delG, c.165delG, r.165delg, p.Glu57fsX6 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1165 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 503 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 55 Feature /change: L -> LGKALTARX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#E165X286(1); standard; MUTATION; PK Accession K01061 Systematic name g.14488delG, c.493delG, r.493delg, p.Glu165fsX121 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14488 Feature /change: -g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 831 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 165 Feature /change: E -> Feature /change: STCIARALCT RTSSRGTCCS PPVAPSKSPT WAWPRHCTRS Feature /change: RRTTPAGPAR APRLSSRPRL PTAWTPSPAS RWTSGRLGSP Feature /change: STTSPRVCTP SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID STK11_@S169X265(2); standard; MUTATION; PK Accession K01062 Systematic name g.14501dupG, c.506dupG, r.506dupg, p.Ser169fsX96 Description A frame shift duplication mutation in the exon 4 leading to Description a premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 14502 Feature /change: +g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 845 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 169 Feature /change: S -> Feature /change: RPGHCAQGHQ AGEPAAHHRW HPQNLRPGRG RGTAPVRGGR Feature /change: HLPDQPGLPG FPAARDCQRP GHLLRLQGGH LVGWGHPLQH Feature /change: HHGSVPLRRG QHLQVVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID STK11_Q214X(1); standard; MUTATION; PK Accession K01063 Systematic name g.14710C>T, c.640C>T, r.640c>u, p.Gln214X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [4] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14710 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 978 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 214 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 5; Homozygotes: 0 // ID STK11_#W239X286(1); standard; MUTATION; PK Accession K01064 Systematic name g.14786delG, c.716delG, r.716delg, p.Trp239fsX47 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14786 Feature /change: -g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1054 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 239 Feature /change: W -> Feature /change: CRLGSPSTTS PRVCTPSKGT TSTSCLRTSG RGATPSRATV Feature /change: APRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_L245R(1); standard; MUTATION; PK Accession K01065 Systematic name g.14804T>G, c.734T>G, r.734u>g, p.Leu245Arg Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14804 Feature /change: t -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1072 Feature /codon: ctc -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 245 Feature /change: L -> R Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L263X286(1); standard; MUTATION; PK Accession K01066 Systematic name g.15352delT, c.787delT, r.787delu, p.Leu263fsX23 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15352 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1125 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 263 Feature /change: L -> CLRTSGRGAT PSRATVAPRS LTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#F264X286(1); standard; MUTATION; PK Accession K01067 Systematic name g.15355delT, c.790delT, r.790delu, p.Phe264fsX22 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [8] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15355 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1128 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 264 Feature /change: F -> LRTSGRGATP SRATVAPRSL TCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 4; Homozygotes: 0 // ID STK11_#I303X335(1); standard; MUTATION; PK Accession K01068 Systematic name g.16080delA, c.907delA, r.907dela, p.Ile303fsX32 Description A frame shift deletion mutation in the exon 7 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [9] RefCrossRef PUBMED; 15863673 RefAuthors Schumacher, V., Vogel, T., Leube, B., Driemel, C., Goecke, RefAuthors T., Moslein, G., Royer-Pokora, B. RefTitle STK11 genotyping and cancer risk in Peutz-Jeghers RefTitle syndrome. RefLoc J Med Genet 42:428-35 RefNumber [17] RefCrossRef PUBMED; 19908348 RefAuthors Ausavarat, S., Leoyklang, P., Vejchapipat, P., RefAuthors Chongsrisawat, V., Suphapeetiporn, K., Shotelersuk, V. RefTitle Novel mutations in the STK11 gene in Thai patients with RefTitle Peutz-Jeghers syndrome. RefLoc World J Gastroenterol 15:5364-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 16080 Feature /change: -a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1245 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 303 Feature /change: I -> SGSTAGSGRN ILRLKHQCPS HRAQTPRTGG AAX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 7; Homozygotes: 0 // ID FLT4_G933R(1); standard; MUTATION; PK Accession K01069 Systematic name g.31472G>C, c.2797G>C, r.2797g>c, p.Gly933Arg Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16924388 RefAuthors Spiegel, R., Ghalamkarpour, A., Daniel-Spiegel, E., RefAuthors Vikkula, M., Shalev, S. A. RefTitle Wide clinical spectrum in a family with hereditary RefTitle lymphedema type I due to a novel missense mutation in RefTitle VEGFR3. RefLoc J Hum Genet 51:846-50 RefNumber [1] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 RefNumber [4] RefCrossRef PUBMED; 18719607 RefAuthors Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., RefAuthors Veraart, J. C., Bladergroen, R. S., Heckman, C. A., RefAuthors Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., RefAuthors Steijlen, P. M. RefTitle Functional analysis of FLT4 mutations associated with RefTitle Nonne-Milroy lymphedema. RefLoc J Invest Dermatol 129:509-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 31472 Feature /change: g -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2818 Feature /codon: ggc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 933 Feature /change: G -> R Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 3; Patients: 4; Homozygotes: 0 // ID FLT4_D1049N(1); standard; MUTATION; PK Accession K01070 Systematic name g.34105G>A, c.3145G>A, r.3145g>a, p.Asp1049Asn Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 18719607 RefAuthors Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., RefAuthors Veraart, J. C., Bladergroen, R. S., Heckman, C. A., RefAuthors Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., RefAuthors Steijlen, P. M. RefTitle Functional analysis of FLT4 mutations associated with RefTitle Nonne-Milroy lymphedema. RefLoc J Invest Dermatol 129:509-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34105 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3166 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1049 Feature /change: D -> N Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID FLT4_D1037H(1); standard; MUTATION; PK Accession K01071 Systematic name g.34069G>C, c.3109G>C, r.3109g>c, p.Asp1037His Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 18719607 RefAuthors Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., RefAuthors Veraart, J. C., Bladergroen, R. S., Heckman, C. A., RefAuthors Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., RefAuthors Steijlen, P. M. RefTitle Functional analysis of FLT4 mutations associated with RefTitle Nonne-Milroy lymphedema. RefLoc J Invest Dermatol 129:509-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34069 Feature /change: g -> c Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3130 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1037 Feature /change: D -> H Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID FLT4_P1137L(1); standard; MUTATION; PK Accession K01072 Systematic name g.37514C>T, c.3410C>T, r.3410c>u, p.Pro1137Leu Description A point mutation in the exon 25 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 18719607 RefAuthors Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., RefAuthors Veraart, J. C., Bladergroen, R. S., Heckman, C. A., RefAuthors Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., RefAuthors Steijlen, P. M. RefTitle Functional analysis of FLT4 mutations associated with RefTitle Nonne-Milroy lymphedema. RefLoc J Invest Dermatol 129:509-12 RefNumber [4] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 37514 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 25 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3431 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1137 Feature /change: P -> L Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID FLT4_#F1108-1(1); standard; MUTATION; PK Accession K01073 Systematic name g.36470delT, c.3323delT, r.3323delu, p.Phe1108fsX20 Description A frame shift deletion mutation in the exon 24 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 18719607 RefAuthors Verstraeten, V. L., Holnthoner, W., van Steensel, M. A., RefAuthors Veraart, J. C., Bladergroen, R. S., Heckman, C. A., RefAuthors Keskitalo, S., Frank, J., Alitalo, K., van Geel, M., RefAuthors Steijlen, P. M. RefTitle Functional analysis of FLT4 mutations associated with RefTitle Nonne-Milroy lymphedema. RefLoc J Invest Dermatol 129:509-12 RefNumber [4] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: FLT4_DNA: 36470 Feature /change: -t Feature /genomic_region: exon; 24 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3344 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: VGR3_HUMAN: 1108 Feature /change: F -> SLWGPPRTLG CRSMRSSASA X Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_G854S(1); standard; MUTATION; PK Accession K01074 Systematic name g.30794G>A, c.2560G>A, r.2560g>a, p.Gly854Ser Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [3] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 30794 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2581 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 854 Feature /change: G -> S Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FLT4_A915P(1); standard; MUTATION; PK Accession K01075 Systematic name g.31275G>C, c.2743G>C, r.2743g>c, p.Ala915Pro Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 31275 Feature /change: g -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2764 Feature /codon: gcg -> ccg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 915 Feature /change: A -> P Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_C916W(1); standard; MUTATION; PK Accession K01076 Systematic name g.31280C>G, c.2748C>G, r.2748c>g, p.Cys916Trp Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 31280 Feature /change: c -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 2769 Feature /codon: tgc -> tgg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 916 Feature /change: C -> W Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_R1041W(1); standard; MUTATION; PK Accession K01077 Systematic name g.34081C>T, c.3121C>T, r.3121c>u, p.Arg1041Trp Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34081 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3142 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1041 Feature /change: R -> W Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT4_R1041Q(1); standard; MUTATION; PK Accession K01078 Systematic name g.34082G>A, c.3122G>A, r.3122g>a, p.Arg1041Gln Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 12960217 RefAuthors Evans, A. L., Bell, R., Brice, G., Comeglio, P., Lipede, RefAuthors C., Jeffery, S., Mortimer, P., Sarfarazi, M., Child, A. H. RefTitle Identification of eight novel VEGFR-3 mutations in RefTitle families with primary congenital lymphoedema. RefLoc J Med Genet 40:697-703 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT4_DNA: 34082 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X69878; GI:1718189; HSFLT4X: 3143 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: VGR3_HUMAN: 1041 Feature /change: R -> Q Feature /domain: PK Diagnosis Hereditary lymphedema Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_A205T(1); standard; MUTATION; PK Accession K01079 Systematic name g.14683G>A, c.613G>A, r.613g>a, p.Ala205Thr Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16407837 RefAuthors Qiu, W., Schonleben, F., Thaker, H. M., Goggins, M., Su, RefAuthors G. H. RefTitle A novel mutation of STK11/LKB1 gene leads to the loss of RefTitle cell growth inhibition in head and neck squamous cell RefTitle carcinoma. RefLoc Oncogene 25:2937-42 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14683 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 951 Feature /codon: gcg -> acg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 205 Feature /change: A -> T Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y60X(2); standard; MUTATION; PK Accession K01080 Systematic name g.1180C>A, c.180C>A, r.180c>a, p.Tyr60X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 RefNumber [3] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 RefNumber [11] RefCrossRef PUBMED; 21118512 RefAuthors Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen- RefAuthors Dale, A. L., Olah, E. RefTitle High prevalence of germline STK11 mutations in Hungarian RefTitle Peutz-Jeghers Syndrome patients. RefLoc BMC Med Genet 11:169 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1180 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 518 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 60 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID STK11_#M51X63(1); standard; MUTATION; PK Accession K01081 Systematic name g.1153delG, c.153delG, r.153delg, p.Asp53fsX10 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1153 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 491 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 51 Feature /change: M -> MGTCWGKALT ARX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_K81X(1); standard; MUTATION; PK Accession K01082 Systematic name g.1241A>T, c.241A>T, r.241a>u, p.Lys81X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 RefNumber [4] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1241 Feature /change: a -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 579 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 81 Feature /change: K -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change(c.241A>T and Comment -!-p.K81X) differs from the reference article(c.250A>T and Comment -!-p.K84X). // ID STK11_#Q112X128(1); standard; MUTATION; PK Accession K01083 Systematic name g.12549delG, c.336delG, r.336delg, p.Gln112fsX16 Description A frame shift deletion mutation in the exon 2 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 12549 Feature /change: -g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 674 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 112 Feature /change: Q -> HWWMCYTTKR SRKCIWX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#Q123X128(1); standard; MUTATION; PK Accession K01084 Systematic name g.12581delA, c.368delA, r.368dela, p.Gln123fsX5 Description A frame shift deletion mutation in the exon 2 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 12581 Feature /change: -a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 706 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 123 Feature /change: Q -> RKCIWX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#S142X160(1); standard; MUTATION; PK Accession K01085 Systematic name g.13462delC, c.426delC, r.426delc, p.Ser142fsX18 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 13462 Feature /change: -c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 764 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 142 Feature /change: S -> RCRRSVSQCA RPTGTSVSX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@W239X(1); standard; MUTATION; PK Accession K01086 Systematic name g.14786_14787insA, c.716_717insA, r.716_717insa, p.Trp239X Description An insertion mutation in the exon 5 leading to a premature Description stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: STK11_DNA: 14787 Feature /change: +a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1055 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 239 Feature /change: W -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@Y272X(1); standard; MUTATION; PK Accession K01087 Systematic name g.15380dupA, c.815dupA, r.815dupa, p.Tyr272X Description A duplication mutation in the exon 6 leading to a premature Description stop codon in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 15381 Feature /change: +a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1154 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 272 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_G242E(1); standard; MUTATION; PK Accession K01088 Systematic name g.14795G>A, c.725G>A, r.725g>a, p.Gly242Glu Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 13-Jul-2011 (Rel. 3, Created) Date 13-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16582077 RefAuthors Hearle, N. C., Rudd, M. F., Lim, W., Murday, V., Lim, A. RefAuthors G., Phillips, R. K., Lee, P. W., O'donohue, J., Morrison, RefAuthors P. J., Norman, A., Hodgson, S. V., Lucassen, A., Houlston, RefAuthors R. S. RefTitle Exonic STK11 deletions are not a rare cause of Peutz- RefTitle Jeghers syndrome. RefLoc J Med Genet 43:e15 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14795 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1063 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 242 Feature /change: G -> E Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_L282P(1); standard; MUTATION; PK Accession K01089 Systematic name g.15410T>C, c.845T>C, r.845u>c, p.Leu282Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17026623 RefAuthors Chow, E., Meldrum, C. J., Crooks, R., Macrae, F., RefAuthors Spigelman, A. D., Scott, R. J. RefTitle An updated mutation spectrum in an Australian series of RefTitle PJS patients provides further evidence for only one gene RefTitle locus. RefLoc Clin Genet 70:409-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15410 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1183 Feature /codon: ctc -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 282 Feature /change: L -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change(c.845T>C and Comment -!-p.L282P) differs from the article(c.852T>C and p.L284P) // ID STK11_V150G(1); standard; MUTATION; PK Accession K01090 Systematic name g.13485T>G, c.449T>G, r.449u>g, p.Val150Gly Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 13485 Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 787 Feature /codon: gtg -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 150 Feature /change: V -> G Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The amino acid change(p.V150G) differs from the reference Comment -!-article(p.V150L). // ID STK11_H174R(1); standard; MUTATION; PK Accession K01091 Systematic name g.14516A>G, c.521A>G, r.521a>g, p.His174Arg Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14516 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 859 Feature /codon: cac -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 174 Feature /change: H -> R Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Q112X(1); standard; MUTATION; PK Accession K01092 Systematic name g.12547C>T, c.334C>T, r.334c>u, p.Gln112X Description A point mutation in the exon 2 leading to a premature stop Description codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 12547 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 672 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 112 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#K175-2(1); standard; MUTATION; PK Accession K01093 Systematic name g.14518delA, c.523delA, r.523dela, p.Lys175fsX111 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14518 Feature /change: -a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 861 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 175 Feature /change: K -> Feature /change: RTSSRGTCCS PPVAPSKSPT WAWPRHCTRS RRTTPAGPAR Feature /change: APRLSSRPRL PTAWTPSPAS RWTSGRLGSP STTSPRVCTP Feature /change: SKGTTSTSCL RTSGRGATPS RATVAPRSLT CX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@P217X265(1); standard; MUTATION; PK Accession K01094 Systematic name g.14720dupC, c.650dupC, r.650dupc, p.Ala218fsX47 Description A frame shift duplication mutation in the exon 5 leading to Description a premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 17404884 RefAuthors Mehenni, H., Resta, N., Guanti, G., Mota-Vieira, L., RefAuthors Lerner, A., Peyman, M., Chong, K. A., Aissa, L., Ince, A., RefAuthors Cosme, A., Costanza, M. C., Rossier, C., Radhakrishna, U., RefAuthors Burt, R. W., Picard, D. RefTitle Molecular and clinical characteristics in 46 families RefTitle affected with Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 52:1924-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 14721 Feature /change: +c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 989 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 217 Feature /change: P -> Feature /change: PGFPAARDCQ RPGHLLRLQG GHLVGWGHPL QHHHGSVPLR Feature /change: RGQHLQVVX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_G187S(1); standard; MUTATION; PK Accession K01095 Systematic name g.14554G>A, c.559G>A, r.559g>a, p.Gly187Ser Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 20082862 RefAuthors Kim, M. J., Jin, G., Jheon, H. S., Lee, S. Y., Cha, S. I., RefAuthors Kim, C. H., Jung, T. H., Park, J. Y. RefTitle LKB1 mutations are extremely rare in Korean non-small cell RefTitle lung cancers. RefLoc Cancer Genet Cytogenet 196:204-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14554 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 897 Feature /codon: ggt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 187 Feature /change: G -> S Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@E57X162(1); standard; MUTATION; PK Accession K01096 Systematic name g.1169dupG, c.169dupG, r.169dupg, p.Glu57fsX105 Description A frame shift duplication mutation in the exon 1 leading to Description a premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 20435009 RefAuthors De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De RefAuthors Palma, G., Rossi, G. B., Staiano, A., Izzo, P. RefTitle Alu-mediated genomic deletion of the serine/threonine RefTitle protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. RefLoc Gastroenterology 138:2558-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 1170 Feature /change: +g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 508 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 57 Feature /change: E -> Feature /change: GRLLRQGEGG AGLGDAVQEG RQDPQEEEVA KDPQRGGQRE Feature /change: EGNSTTEEVT AQKCHPAGGC VIQRREAENV YGDGVLRVWH Feature /change: AGNAGQRAGE AFPSVPGPRV LLSADX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L286-1(1); standard; MUTATION; PK Accession K01097 Systematic name g.15421delC, c.856delC, r.856delc, p.Leu286X Description A deletion mutation in the exon 6 leading to a premature Description stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 20435009 RefAuthors De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De RefAuthors Palma, G., Rossi, G. B., Staiano, A., Izzo, P. RefTitle Alu-mediated genomic deletion of the serine/threonine RefTitle protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. RefLoc Gastroenterology 138:2558-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15421 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1194 Feature /codon: ctg -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 286 Feature /change: L -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#T249-1(1); standard; MUTATION; PK Accession K01098 Systematic name g.15312delC, c.747delC, r.747delc, p.Thr250fsX36 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 20435009 RefAuthors De Rosa, M., Galatola, M., Quaglietta, L., Miele, E., De RefAuthors Palma, G., Rossi, G. B., Staiano, A., Izzo, P. RefTitle Alu-mediated genomic deletion of the serine/threonine RefTitle protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. RefLoc Gastroenterology 138:2558-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15312 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1085 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 249 Feature /change: T -> TRVCTPSKGT TSTSCLRTSG RGATPSRATV APRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_W239G(1); standard; MUTATION; PK Accession K01099 Systematic name g.14785T>G, c.715T>G, r.715u>g, p.Trp239Gly Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 20497868 RefAuthors Weng, M. T., Ni, Y. H., Su, Y. N., Wong, J. M., Wei, S. C. RefTitle Clinical and genetic analysis of Peutz-Jeghers syndrome RefTitle patients in Taiwan. RefLoc J Formos Med Assoc 109:354-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14785 Feature /change: t -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1053 Feature /codon: tgg -> ggg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 239 Feature /change: W -> G Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_P179L(1); standard; MUTATION; PK Accession K01100 Systematic name g.14531C>T, c.536C>T, r.536c>u, p.Pro179Leu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 20559149 RefAuthors Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., RefAuthors Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H. RefTitle Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung RefTitle adenocarcinomas. RefLoc J Thorac Oncol 5:1130-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14531 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 874 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 179 Feature /change: P -> L Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_L50X(1); standard; MUTATION; PK Accession K01101 Systematic name g.1148delC, c.148delC, r.148delc, p.Leu50X Description A deletion mutation in the exon 1 leading to a premature Description stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 20559149 RefAuthors Gao, B., Sun, Y., Zhang, J., Ren, Y., Fang, R., Han, X., RefAuthors Shen, L., Liu, X. Y., Pao, W., Chen, H., Ji, H. RefTitle Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung RefTitle adenocarcinomas. RefLoc J Thorac Oncol 5:1130-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1148 Feature /change: -c Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 486 Feature /codon: ctg -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 50 Feature /change: L -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#I267X286(1); standard; MUTATION; PK Accession K01102 Systematic name g.15366delC, c.801delC, r.801delc, p.Ile267fsX19 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 21118512 RefAuthors Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen- RefAuthors Dale, A. L., Olah, E. RefTitle High prevalence of germline STK11 mutations in Hungarian RefTitle Peutz-Jeghers Syndrome patients. RefLoc BMC Med Genet 11:169 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 15366 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1139 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 267 Feature /change: I -> MGRGATPSRA TVAPRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Y292X(1); standard; MUTATION; PK Accession K01103 Systematic name g.16049C>G, c.876C>G, r.876c>g, p.Tyr292X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 21118512 RefAuthors Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen- RefAuthors Dale, A. L., Olah, E. RefTitle High prevalence of germline STK11 mutations in Hungarian RefTitle Peutz-Jeghers Syndrome patients. RefLoc BMC Med Genet 11:169 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 16049 Feature /change: c -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1214 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 292 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#L184X286(1); standard; MUTATION; PK Accession K01104 Systematic name g.14545delC, c.550delC, r.550delc, p.Leu184fsX102 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 21118512 RefAuthors Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen- RefAuthors Dale, A. L., Olah, E. RefTitle High prevalence of germline STK11 mutations in Hungarian RefTitle Peutz-Jeghers Syndrome patients. RefLoc BMC Med Genet 11:169 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14545 Feature /change: -c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 888 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 184 Feature /change: L -> Feature /change: SPPVAPSKSP TWAWPRHCTR SRRTTPAGPA RAPRLSSRPR Feature /change: LPTAWTPSPA SRWTSGRLGS PSTTSPRVCT PSKGTTSTSC Feature /change: LRTSGRGATP SRATVAPRSL TCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#G180X286(1); standard; MUTATION; PK Accession K01105 Systematic name g.14535delG, c.540delG, r.540delg, p.Asn181fsX105 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 21118512 RefAuthors Papp, J., Kovacs, M. E., Solyom, S., Kasler, M., Borresen- RefAuthors Dale, A. L., Olah, E. RefTitle High prevalence of germline STK11 mutations in Hungarian RefTitle Peutz-Jeghers Syndrome patients. RefLoc BMC Med Genet 11:169 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 14535 Feature /change: -g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 878 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 180 Feature /change: G -> Feature /change: GTCCSPPVAP SKSPTWAWPR HCTRSRRTTP AGPARAPRLS Feature /change: SRPRLPTAWT PSPASRWTSG RLGSPSTTSP RVCTPSKGTT Feature /change: STSCLRTSGR GATPSRATVA PRSLTCX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_W308L(1); standard; MUTATION; PK Accession K01106 Systematic name g.17074G>T, c.923G>T, r.923g>u, p.Trp308Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 17711506 RefAuthors Onozato, R., Kosaka, T., Achiwa, H., Kuwano, H., RefAuthors Takahashi, T., Yatabe, Y., Mitsudomi, T. RefTitle LKB1 gene mutations in Japanese lung cancer patients. RefLoc Cancer Sci 98:1747-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 17074 Feature /change: g -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1261 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 308 Feature /change: W -> L Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_S69X(1); standard; MUTATION; PK Accession K01107 Systematic name g.1206C>A, c.206C>A, r.206c>a, p.Ser69X Description A point mutation in the exon 1 leading to a premature stop Description codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1206 Feature /change: c -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 544 Feature /codon: tcg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 69 Feature /change: S -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_Q159X(1); standard; MUTATION; PK Accession K01108 Systematic name g.14470C>T, c.475C>T, r.475c>u, p.Gln159X Description A point mutation in the exon 4 leading to a premature stop Description codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14470 Feature /change: c -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 813 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 159 Feature /change: Q -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_D277Y(1); standard; MUTATION; PK Accession K01109 Systematic name g.15394G>T, c.829G>T, r.829g>u, p.Asp277Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15394 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1167 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 277 Feature /change: D -> Y Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_D176Y(1); standard; MUTATION; PK Accession K01110 Systematic name g.14521G>T, c.526G>T, r.526g>u, p.Asp176Tyr Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 18594528 RefAuthors Koivunen, J. P., Kim, J., Lee, J., Rogers, A. M., Park, J. RefAuthors O., Zhao, X., Naoki, K., Okamoto, I., Nakagawa, K., Yeap, RefAuthors B. Y., Meyerson, M., Wong, K. K., Richards, W. G., RefAuthors Sugarbaker, D. J., Johnson, B. E., Janne, P. A. RefTitle Mutations in the LKB1 tumour suppressor are frequently RefTitle detected in tumours from Caucasian but not Asian lung RefTitle cancer patients. RefLoc Br J Cancer 99:245-52 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14521 Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 864 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 176 Feature /change: D -> Y Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_C73S(1); standard; MUTATION; PK Accession K01111 Systematic name g.1217T>A, c.217T>A, r.217u>a, p.Cys73Ser Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 19507030 RefAuthors Gao, Y., Zhang, F. M., Huang, S., Wang, X., Zhang, P., RefAuthors Huang, X. D., Ji, G. Z., Fan, Z. N. RefTitle A De Novo mutation of STK11 gene in a Chinese patient with RefTitle Peutz-Jeghers syndrome. RefLoc Dig Dis Sci 55:1032-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 1217 Feature /change: t -> a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 555 Feature /codon: tgc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 73 Feature /change: C -> S Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_#G61X63(1); standard; MUTATION; PK Accession K01112 Systematic name g.1182delG, c.182delG, r.182delg, p.Gly61fsX2 Description A frame shift deletion mutation in the exon 1 leading to a Description premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [16] RefCrossRef PUBMED; 19908348 RefAuthors Ausavarat, S., Leoyklang, P., Vejchapipat, P., RefAuthors Chongsrisawat, V., Suphapeetiporn, K., Shotelersuk, V. RefTitle Novel mutations in the STK11 gene in Thai patients with RefTitle Peutz-Jeghers syndrome. RefLoc World J Gastroenterol 15:5364-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: STK11_DNA: 1182 Feature /change: -g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 520 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 61 Feature /change: G -> ARX Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ERBB2_@G776+1(1); standard; MUTATION; PK Accession K01113 Systematic name g.25506_25507insT, c.2326_2327insT, r.2326_2327insu, Systematic name p.Gly776fsX97 Description A frame shift insertion mutation in the exon 20 leading to Description a premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 15-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [17] RefCrossRef PUBMED; 20881644 RefAuthors Lee, S. Y., Kim, M. J., Jin, G., Yoo, S. S., Park, J. Y., RefAuthors Choi, J. E., Jeon, H. S., Cho, S., Lee, E. B., Cha, S. I., RefAuthors Park, T. I., Kim, C. H., Jung, T. H., Park, J. Y. RefTitle Somatic mutations in epidermal growth factor receptor RefTitle signaling pathway genes in non-small cell lung cancers. RefLoc J Thorac Oncol 5:1734-40 RefNumber [2] RefCrossRef PUBMED; 17321325 RefAuthors Bae, N. C., Chae, M. H., Lee, M. H., Kim, K. M., Lee, E. RefAuthors B., Kim, C. H., Park, T. I., Han, S. B., Jheon, S., Jung, RefAuthors T. H., Park, J. Y. RefTitle EGFR, ERBB2, and KRAS mutations in Korean non-small cell RefTitle lung cancer patients. RefLoc Cancer Genet Cytogenet 173:107-13 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: ERBB2_DNA: 25507 Feature /change: +t Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2501 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ERB2_HUMAN: 776 Feature /change: G -> Feature /change: VCGLPICLPP SGHLPDIHGA AGDTAYALWL PLRPCPGKPR Feature /change: TPGLPGPAEL VYADCQGDEL PGGCAARTQG LGRSERAGQE Feature /change: SQPCQNYRLR AGSAAGHX Feature /domain: PK Diagnosis Diagnosis v-erb-b2 avian erythroblastic leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Non small cell Lung Cancer // ID ERBB2_@A775+4(1); standard; MUTATION; PK Accession K01114 Systematic name g.25503dupG, c.2323dupG, r.2323dupg, p.Ala775fsX98 Description A frame shift duplication mutation in the exon 20 leading Description to a premature stop codon in the PK domain Date 14-Jul-2011 (Rel. 3, Created) Date 14-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [17] RefCrossRef PUBMED; 20881644 RefAuthors Lee, S. Y., Kim, M. J., Jin, G., Yoo, S. S., Park, J. Y., RefAuthors Choi, J. E., Jeon, H. S., Cho, S., Lee, E. B., Cha, S. I., RefAuthors Park, T. I., Kim, C. H., Jung, T. H., Park, J. Y. RefTitle Somatic mutations in epidermal growth factor receptor RefTitle signaling pathway genes in non-small cell lung cancers. RefLoc J Thorac Oncol 5:1734-40 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: ERBB2_DNA: 25504 Feature /change: +g Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2498 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ERB2_HUMAN: 775 Feature /change: A -> Feature /change: GWCGLPICLP PSGHLPDIHG AAGDTAYALW LPLRPCPGKP Feature /change: RTPGLPGPAE LVYADCQGDE LPGGCAARTQ GLGRSERAGQ Feature /change: ESQPCQNYRL RAGSAAGHX Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Non small cell Lung Cancer // ID ERBB2_H878Y(1); standard; MUTATION; PK Accession K01115 Systematic name g.25949C>T, c.2632C>T, r.2632c>u, p.His878Tyr Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 15-Jul-2011 (Rel. 3, Created) Date 15-Jul-2011 (Rel. 3, Last updated, Version 1) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25949 Feature /change: c -> t Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2806 Feature /codon: cat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 878 Feature /change: H -> Y Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Disease: Hepatocellular carcinoma // ID STK11_D176H(1); standard; MUTATION; PK Accession K01116 Systematic name g.14521G>C, c.526G>C, r.526g>c, p.Asp176His Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14521 Feature /change: g -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 864 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 176 Feature /change: D -> H Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_E265X(1); standard; MUTATION; PK Accession K01117 Systematic name g.15358G>T, c.793G>T, r.793g>u, p.Glu265X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 15358 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 1131 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 265 Feature /change: E -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID STK11_L164P(1); standard; MUTATION; PK Accession K01118 Systematic name g.14486T>C, c.491T>C, r.491u>c, p.Leu164Pro Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: STK11_DNA: 14486 Feature /change: t -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 829 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: STKB_HUMAN: 164 Feature /change: L -> P Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID STK11_@Y60X(2); standard; MUTATION; PK Accession K01119 Systematic name g.1179dupA, c.179dupA, r.179dupa, p.Tyr60X Description A duplication mutation in the exon 1 leading to a premature Description stop codon in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 19727776 RefAuthors Salloch, H., Reinacher-Schick, A., Schulmann, K., Pox, C., RefAuthors Willert, J., Tannapfel, A., Heringlake, S., Goecke, T. O., RefAuthors Aretz, S., Stemmler, S., Schmiegel, W. RefTitle Truncating mutations in Peutz-Jeghers syndrome are RefTitle associated with more polyps, surgical interventions and RefTitle cancers. RefLoc Int J Colorectal Dis 25:97-107 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: IDRefSeq: STK11_DNA: 1180 Feature /change: +a Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: AF035625; GI:3024670; AF035625: 518 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: STKB_HUMAN: 60 Feature /change: Y -> X Feature /domain: PK Diagnosis Peutz-Jeghers syndrome (PJS) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID KIT_V654A(1); standard; MUTATION; PK Accession K01120 Systematic name g.71077T>C, c.1961T>C, r.1961u>c, p.Val654Ala Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 4) RefNumber [5] RefCrossRef PUBMED; 15705916 RefAuthors Tamborini, E., Gabanti, E., Lagonigro, M. S., Negri, T., RefAuthors Pilotti, S., Pierotti, M. A., Pricl, S. RefTitle KIT/Val654 Ala receptor detected in one imatinib-resistant RefTitle GIST patient. RefLoc Cancer Res 65:1115; author reply 1115 RefNumber [13] RefCrossRef PUBMED; 17632543 RefAuthors Lasota, J., vel Dobosz, A. J., Wasag, B., Wozniak, A., RefAuthors Kraszewska, E., Michej, W., Ptaszynski, K., Rutkowski, P., RefAuthors Sarlomo-Rikala, M., Steigen, S. E., Schneider-Stock, R., RefAuthors Stachura, J., Chosia, M., Ogun, G., Ruka, W., Siedlecki, RefAuthors J. A., Miettinen, M. RefTitle Presence of homozygous KIT exon 11 mutations is strongly RefTitle associated with malignant clinical behavior in RefTitle gastrointestinal stromal tumors. RefLoc Lab Invest 87:1029-41 RefNumber [17] RefCrossRef PUBMED; 18488000 RefAuthors Chen, L. L., Holden, J. A., Choi, H., Zhu, J., Wu, E. F., RefAuthors Jones, K. A., Ward, J. H., Andtbacka, R. H., Randall, R. RefAuthors L., Scaife, C. L., Hunt, K. K., Prieto, V. G., Raymond, A. RefAuthors K., Zhang, W., Trent, J. C., Benjamin, R. S., Frazier, M. RefAuthors L. RefTitle Evolution from heterozygous to homozygous KIT mutation in RefTitle gastrointestinal stromal tumor correlates with the RefTitle mechanism of mitotic nondisjunction and significant tumor RefTitle progression. RefLoc Mod Pathol 21:826-36 RefNumber [19] RefCrossRef PUBMED; 19096980 RefAuthors Zheng, S., Pan, Y. L., Tao, D. Y., Wang, J. L., Huang, K. RefAuthors E. RefTitle Secondary C-kit mutation is a cause of acquired resistance RefTitle to imatinib in gastrointestinal stromal tumor. RefLoc Scand J Gastroenterol 44:760-3 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71077 Feature /change: t -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1982 Feature /codon: gtg -> gcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 654 Feature /change: V -> A Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 8; Patients: 8; Homozygotes: 0 Comment -!-The nucleotide change(1961T>C) differ from the Comment -!-reference(1982T>C) // ID KIT_V620A(1); standard; MUTATION; PK Accession K01121 Systematic name g.70892T>C, c.1859T>C, r.1859u>c, p.Val620Ala Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 16456533 RefAuthors Tosaki, H., Kunisada, T., Motohashi, T., Aoki, H., RefAuthors Yoshida, H., Kitajima, Y. RefTitle Mice transgenic for Kit(V620A): recapitulation of RefTitle piebaldism but not progressive depigmentation seen in RefTitle humans with this mutation. RefLoc J Invest Dermatol 126:1111-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70892 Feature /change: t -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1880 Feature /codon: gtc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 620 Feature /change: V -> A Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID KIT_A621D(1); standard; MUTATION; PK Accession K01122 Systematic name g.70895C>A, c.1862C>A, r.1862c>a, p.Ala621Asp Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 17107413 RefAuthors Lin, Z. M., Xu, Z., Bu, D. F., Yang, Y. RefTitle New mutations of KIT gene in two Chinese patients with RefTitle piebaldism. RefLoc Br J Dermatol 155:1303-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70895 Feature /change: c -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1883 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 621 Feature /change: A -> D Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_L595P(1); standard; MUTATION; PK Accession K01123 Systematic name g.70817T>C, c.1784T>C, r.1784u>c, p.Leu595Pro Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 17107413 RefAuthors Lin, Z. M., Xu, Z., Bu, D. F., Yang, Y. RefTitle New mutations of KIT gene in two Chinese patients with RefTitle piebaldism. RefLoc Br J Dermatol 155:1303-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70817 Feature /change: t -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1805 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 595 Feature /change: L -> P Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_N822K(2); standard; MUTATION; PK Accession K01124 Systematic name g.76159T>G, c.2466T>G, r.2466u>g, p.Asn822Lys Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 17566038 RefAuthors Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, RefAuthors G., Frilling, A., Schmid, K. W. RefTitle Double resistance to imatinib and AMG 706 caused by RefTitle multiple acquired KIT exon 17 mutations in a RefTitle gastrointestinal stromal tumour. RefLoc Gut 56:1025-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76159 Feature /change: t -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2487 Feature /codon: aat -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> K Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_K818R(1); standard; MUTATION; PK Accession K01125 Systematic name g.76146A>G, c.2453A>G, r.2453a>g, p.Lys818Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 17566038 RefAuthors Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, RefAuthors G., Frilling, A., Schmid, K. W. RefTitle Double resistance to imatinib and AMG 706 caused by RefTitle multiple acquired KIT exon 17 mutations in a RefTitle gastrointestinal stromal tumour. RefLoc Gut 56:1025-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76146 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2474 Feature /codon: aag -> agg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 818 Feature /change: K -> R Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_Y823N(1); standard; MUTATION; PK Accession K01126 Systematic name g.76160T>A, c.2467T>A, r.2467u>a, p.Tyr823Asn Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 17566038 RefAuthors Grabellus, F., Ebeling, P., Worm, K., Sheu, S. Y., Antoch, RefAuthors G., Frilling, A., Schmid, K. W. RefTitle Double resistance to imatinib and AMG 706 caused by RefTitle multiple acquired KIT exon 17 mutations in a RefTitle gastrointestinal stromal tumour. RefLoc Gut 56:1025-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76160 Feature /change: t -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2488 Feature /codon: tat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 823 Feature /change: Y -> N Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_I798I(1); standard; MUTATION; PK Accession K01128 Systematic name g.76087C>T, c.2394C>T, r.2394c>u, p.Ile798Ile Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [13] RefCrossRef PUBMED; 18084259 RefAuthors Kartha, R. V., Sundram, U. N. RefTitle Silent mutations in KIT and PDGFRA and coexpression of RefTitle receptors with SCF and PDGFA in Merkel cell carcinoma: RefTitle implications for tyrosine kinase-based tumorigenesis. RefLoc Mod Pathol 21:96-104 RefNumber [20] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76087 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2415 Feature /codon: atc -> att; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 798 Feature /change: I -> I Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Silent Mutation Diseases: Primary adenoid cystic carcinoma Comment -!-of the salivary gland // ID KIT_P832L(1); standard; MUTATION; PK Accession K01129 Systematic name g.79493C>T, c.2495C>T, r.2495c>u, p.Pro832Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [17] RefCrossRef PUBMED; 19416250 RefAuthors Oiso, N., Kishida, K., Fukai, K., Motokawa, T., Hosomi, RefAuthors N., Suzuki, T., Mitsuhashi, Y., Tsuboi, R., Kawada, A. RefTitle A Japanese piebald patient with auburn hair colour RefTitle associated with a novel mutation p.P832L in the KIT gene RefTitle and a homozygous variant p.I120T in the MC1R gene. RefLoc Br J Dermatol 161:468-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 79493 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2516 Feature /codon: cct -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 832 Feature /change: P -> L Feature /domain: PK Diagnosis Piepaldism Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_L813L(1); standard; MUTATION; PK Accession K01130 Systematic name g.76130C>T, c.2437C>T, r.2437c>u, p.Leu813Leu Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [18] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76130 Feature /change: c -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2458 Feature /codon: cta -> tta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 813 Feature /change: L -> L Feature /domain: PK Diagnosis Piepaldism Diagnosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Silent Mutation Comment -!-Diseases: Primary adenoid cystic carcinoma of the salivary Comment -!-gland // ID KIT_F591L(1); standard; MUTATION; PK Accession K01131 Systematic name g.70524T>C, c.1771T>C, r.1771u>c, p.Phe591Leu Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70524 Feature /change: t -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1792 Feature /codon: ttt -> ctt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 591 Feature /change: F -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Primary adenoid cystic carcinoma of the salivary Comment -!-gland // ID KIT_L813P(1); standard; MUTATION; PK Accession K01132 Systematic name g.76131T>C, c.2438T>C, r.2438u>c, p.Leu813Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76131 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2459 Feature /codon: cta -> cca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 813 Feature /change: L -> P Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Primary adenoid cystic carcinoma of the salivary Comment -!-gland // ID KIT_G803G(1); standard; MUTATION; PK Accession K01133 Systematic name g.76102T>C, c.2409T>C, r.2409u>c, p.Gly803Gly Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76102 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2430 Feature /codon: ggt -> ggc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 803 Feature /change: G -> G Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Silent Mutation Diseases: Primary adenoid cystic carcinoma Comment -!-of the salivary gland // ID KIT_S639P(1); standard; MUTATION; PK Accession K01134 Systematic name g.71031T>C, c.1915T>C, r.1915u>c, p.Ser639Pro Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71031 Feature /change: t -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1936 Feature /codon: tct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 639 Feature /change: S -> P Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Primary adenoid cystic carcinoma of the salivary Comment -!-gland // ID KIT_V643A(1); standard; MUTATION; PK Accession K01135 Systematic name g.71044T>C, c.1928T>C, r.1928u>c, p.Val643Ala Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 71044 Feature /change: t -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1949 Feature /codon: gtc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 643 Feature /change: V -> A Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Primary adenoid cystic carcinoma of the salivary Comment -!-gland // ID KIT_N822S(1); standard; MUTATION; PK Accession K01136 Systematic name g.76158A>G, c.2465A>G, r.2465a>g, p.Asn822Ser Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76158 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2486 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> S Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Primary adenoid cystic carcinoma of the salivary Comment -!-gland // ID KIT_N822Y(1); standard; MUTATION; PK Accession K01137 Systematic name g.76157A>T, c.2464A>T, r.2464a>u, p.Asn822Tyr Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [19] RefCrossRef PUBMED; 19617878 RefAuthors Vila, L., Liu, H., Al-Quran, S. Z., Coco, D. P., Dong, H. RefAuthors J., Liu, C. RefTitle Identification of c-kit gene mutations in primary adenoid RefTitle cystic carcinoma of the salivary gland. RefLoc Mod Pathol 22:1296-302 RefNumber [21] RefCrossRef PUBMED; 20001354 RefAuthors Terada, T. RefTitle Mediastinal seminoma with multiple KIT gene mutations. RefLoc Pathology 41:695-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76157 Feature /change: a -> t Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2485 Feature /codon: aat -> tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 822 Feature /change: N -> Y Feature /domain: PK Diagnosis Germ cell tumor Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Mediastinal seminoma // ID KIT_V825A(1); standard; MUTATION; PK Accession K01138 Systematic name g.76167T>C, c.2474T>C, r.2474u>c, p.Val825Ala Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [22] RefCrossRef PUBMED; 20471335 RefAuthors Fritsche-Polanz, R., Fritz, M., Huber, A., Sotlar, K., RefAuthors Sperr, W. R., Mannhalter, C., Fodinger, M., Valent, P. RefTitle High frequency of concomitant mastocytosis in patients RefTitle with acute myeloid leukemia exhibiting the transforming RefTitle KIT mutation D816V. RefLoc Mol Oncol 4:335-46 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 76167 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 2495 Feature /codon: gtt -> gct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 825 Feature /change: V -> A Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID KIT_L611F(1); standard; MUTATION; PK Accession K01139 Systematic name g.70866A>C, c.1833A>C, r.1833a>c, p.Leu611Phe Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [23] RefCrossRef PUBMED; 20688482 RefAuthors Chong, K. L., Common, J. E., Lane, E. B., Goh, B. K. RefTitle A novel mutation in the kinase domain of KIT in an Indian RefTitle family with a mild piebaldism phenotype. RefLoc J Dermatol Sci 59:206-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: KIT_DNA: 70866 Feature /change: a -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X06182; GI:125472; X06182: 1854 Feature /codon: tta -> ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIT_HUMAN: 611 Feature /change: L -> F Feature /domain: PK Diagnosis Childhood-onset sporadic mastocytosis Diagnosis Piepaldism Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID KIT_#K642X644(1); standard; MUTATION; PK Accession K01140 Systematic name g.71042delA, c.1926delA, r.1926dela, p.Val643fsX1 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [25] RefCrossRef PUBMED; 15543597 RefAuthors Vu, H. A., Xinh, P. T., Kikushima, M., Zhu, Y., Tokuhara, RefAuthors M., Tani, M., Shimizu, T., Saito, K., Tokunaga, K., Sato, RefAuthors Y. RefTitle A recurrent duodenal gastrointestinal stromal tumor with a RefTitle frameshift mutation resulting in a stop codon in KIT exon RefTitle 13. RefLoc Genes Chromosomes Cancer 42:179-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: KIT_DNA: 71042 Feature /change: -a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X06182; GI:125472; X06182: 1947 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIT_HUMAN: 642 Feature /change: K -> KSX Feature /domain: PK Diagnosis Gastrointestinal stromal tumor (GIST) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Frameshift mutation // ID ERBB2_D769H(1); standard; MUTATION; PK Accession K01141 Systematic name g.24770G>C, c.2305G>C, r.2305g>c, p.Asp769His Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [26] RefCrossRef PUBMED; 16029927 RefAuthors Lee, J. W., Soung, Y. H., Kim, S. Y., Nam, S. W., Park, W. RefAuthors S., Wang, Y. P., Jo, K. H., Moon, S. W., Song, S. Y., Lee, RefAuthors J. Y., Yoo, N. J., Lee, S. H. RefTitle ERBB2 kinase domain mutation in the lung squamous cell RefTitle carcinoma. RefLoc Cancer Lett 237:89-94 RefNumber [29] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 24770 Feature /change: g -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2479 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 769 Feature /change: D -> H Feature /domain: PK Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Diseases: Lung squamous cell carcinoma Comment -!-Diseases: Gastric Cancers // ID ERBB2_V842I(1); standard; MUTATION; PK Accession K01142 Systematic name g.25841G>A, c.2524G>A, r.2524g>a, p.Val842Ile Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [27] RefCrossRef PUBMED; 16309427 RefAuthors Lee, J. W., Soung, Y. H., Kim, S. Y., Park, W. S., Nam, S. RefAuthors W., Kim, S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle ERBB2 kinase domain mutation in a gastric cancer RefTitle metastasis. RefLoc APMIS 113:683-7 RefNumber [29] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25841 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2698 Feature /codon: gta -> ata; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 842 Feature /change: V -> I Feature /domain: PK Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Diseases: Gastric cancer metastasis Comment -!-The amino acid change should be V842I instead of V832I Comment -!-Diseases: Colon Cancers // ID ERBB2_K724N(1); standard; MUTATION; PK Accession K01143 Systematic name g.24386G>T, c.2172G>T, r.2172g>u, p.Lys724Asn Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 24386 Feature /change: g -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2346 Feature /codon: aag -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 724 Feature /change: K -> N Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Gastric,Colorectal and Breast carcinomas // ID ERBB2_T733I(1); standard; MUTATION; PK Accession K01144 Systematic name g.24412C>T, c.2198C>T, r.2198c>u, p.Thr733Ile Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 24412 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2372 Feature /codon: aca -> ata; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 733 Feature /change: T -> I Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Gastric Cancers // ID ERBB2_L755S(1); standard; MUTATION; PK Accession K01145 Systematic name g.24729T>C, c.2264T>C, r.2264u>c, p.Leu755Ser Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 3) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 24729 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2438 Feature /codon: ttg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 755 Feature /change: L -> S Feature /domain: PK Diagnosis Occurrence Families: 4; Patients: 4; Homozygotes: 0 Comment -!-Diseases: Gastric Cancers Comment -!-Diseases: Breast Cancers // ID ERBB2_Q799P(1); standard; MUTATION; PK Accession K01146 Systematic name g.25576A>C, c.2396A>C, r.2396a>c, p.Gln799Pro Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25576 Feature /change: a -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2570 Feature /codon: cag -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 799 Feature /change: Q -> P Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Gastric Cancers // ID ERBB2_V777L(1); standard; MUTATION; PK Accession K01147 Systematic name g.25509G>T, c.2329G>T, r.2329g>u, p.Val777Leu Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 RefNumber [32] RefCrossRef PUBMED; 16988931 RefAuthors Buttitta, F., Barassi, F., Fresu, G., Felicioni, L., RefAuthors Chella, A., Paolizzi, D., Lattanzio, G., Salvatore, S., RefAuthors Camplese, P. P., Rosini, S., Iarussi, T., Mucilli, F., RefAuthors Sacco, R., Mezzetti, A., Marchetti, A. RefTitle Mutational analysis of the HER2 gene in lung tumors from RefTitle Caucasian patients: mutations are mainly present in RefTitle adenocarcinomas with bronchioloalveolar features. RefLoc Int J Cancer 119:2586-91 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25509 Feature /change: g -> t Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2503 Feature /codon: gtg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 777 Feature /change: V -> L Feature /domain: PK Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Diseases: Gastric Cancers Comment -!-Diseases: Lung adenocarcinoma // ID ERBB2_V777L(2); standard; MUTATION; PK Accession K01148 Systematic name g.25509G>C, c.2329G>C, r.2329g>c, p.Val777Leu Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25509 Feature /change: g -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2503 Feature /codon: gtg -> ctg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 777 Feature /change: V -> L Feature /domain: PK Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Diseases: Gastric and colon Cancers // ID ERBB2_L869Q(1); standard; MUTATION; PK Accession K01149 Systematic name g.25923T>A, c.2606T>A, r.2606u>a, p.Leu869Gln Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25923 Feature /change: t -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2780 Feature /codon: ctg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 869 Feature /change: L -> Q Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Gastric Cancers // ID ERBB2_V777M(1); standard; MUTATION; PK Accession K01150 Systematic name g.25509G>A, c.2329G>A, r.2329g>a, p.Val777Met Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 25509 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2503 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 777 Feature /change: V -> M Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases:Colon Cancers // ID ERBB2_R896C(1); standard; MUTATION; PK Accession K01151 Systematic name g.26125C>T, c.2686C>T, r.2686c>u, p.Arg896Cys Description A point mutation in the exon 22 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [30] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ERBB2_DNA: 26125 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2860 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ERB2_HUMAN: 896 Feature /change: R -> C Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Breast Cancers // ID ERBB2_@R896X904(1); standard; MUTATION; PK Accession K01152 Systematic name g.26124_26125insT, c.2685_2686insT, r.2685_2686insu, Systematic name p.Arg896fsX8 Description A frame shift insertion mutation in the exon 22 leading to Description a premature stop codon in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [30] RefCrossRef PUBMED; 16397024 RefAuthors Lee, J. W., Soung, Y. H., Seo, S. H., Kim, S. Y., Park, C. RefAuthors H., Wang, Y. P., Park, K., Nam, S. W., Park, W. S., Kim, RefAuthors S. H., Lee, J. Y., Yoo, N. J., Lee, S. H. RefTitle Somatic mutations of ERBB2 kinase domain in gastric, RefTitle colorectal, and breast carcinomas. RefLoc Clin Cancer Res 12:57-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: ERBB2_DNA: 26125 Feature /change: +t Feature /CpG; 1 Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X03363; GI:119533; HSERB2R: 2860 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: ERB2_HUMAN: 896 Feature /change: R -> SPAVHPPEX Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Breast Cancers // ID FGFR3_D580N(1); standard; MUTATION; PK Accession K01154 Systematic name g.12947G>A, c.1738G>A, r.1738g>a, p.Asp580Asn Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [32] RefCrossRef PUBMED; 16912704 RefAuthors Heuertz, S., Le Merrer, M., Zabel, B., Wright, M., Legeai- RefAuthors Mallet, L., Cormier-Daire, V., Gibbs, L., Bonaventure, J. RefTitle Novel FGFR3 mutations creating cysteine residues in the RefTitle extracellular domain of the receptor cause achondroplasia RefTitle or severe forms of hypochondroplasia. RefLoc Eur J Hum Genet 14:1240-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12947 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1777 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 580 Feature /change: D -> N Feature /domain: PK Diagnosis Hypochondroplasia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Polymorphism // ID FGFR3_G697C(1); standard; MUTATION; PK Accession K01155 Systematic name g.13709G>T, c.2089G>T, r.2089g>u, p.Gly697Cys Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [34] RefCrossRef PUBMED; 17044022 RefAuthors Aubertin, J., Tourpin, S., Janot, F., Ahomadegbe, J. C., RefAuthors Radvanyi, F. RefTitle Analysis of fibroblast growth factor receptor 3 G697C RefTitle mutation in oral squamous cell carcinomas. RefLoc Int J Cancer 120:2058-9; author reply 2060 RefNumber [45] RefCrossRef PUBMED; 15880580 RefAuthors Zhang, Y., Hiraishi, Y., Wang, H., Sumi, K. S., Hayashido, RefAuthors Y., Toratani, S., Kan, M., Sato, J. D., Okamoto, T. RefTitle Constitutive activating mutation of the FGFR3b in oral RefTitle squamous cell carcinomas. RefLoc Int J Cancer 117:166-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13709 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 2128 Feature /codon: ggc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 697 Feature /change: G -> C Feature /domain: PK Diagnosis Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Diseases : Oral squamous cell carcinomas // ID FGFR3_K649E(1); standard; MUTATION; PK Accession K01156 Systematic name g.13264A>G, c.1945A>G, r.1945a>g, p.Lys649Glu Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [35] RefCrossRef PUBMED; 17392824 RefAuthors Hafner, C., Hartmann, A., Real, F. X., Hofstaedter, F., RefAuthors Landthaler, M., Vogt, T. RefTitle Spectrum of FGFR3 mutations in multiple intraindividual RefTitle seborrheic keratoses. RefLoc J Invest Dermatol 127:1883-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13264 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1984 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 649 Feature /change: K -> E Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Seborrheic Keratoses // ID FGFR3_N653H(1); standard; MUTATION; PK Accession K01157 Systematic name g.13276A>C, c.1957A>C, r.1957a>c, p.Asn653His Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [40] RefCrossRef PUBMED; 19287463 RefAuthors Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez- RefAuthors Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., RefAuthors Cheng, L. RefTitle FGFR3 and TP53 mutation analysis in inverted urothelial RefTitle papilloma: incidence and etiological considerations. RefLoc Mod Pathol 22:627-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13276 Feature /change: a -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1996 Feature /codon: aac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 653 Feature /change: N -> H Feature /domain: PK Diagnosis Hypochondroplasia Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_H643D(1); standard; MUTATION; PK Accession K01158 Systematic name g.13246C>G, c.1927C>G, r.1927c>g, p.His643Asp Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [40] RefCrossRef PUBMED; 19287463 RefAuthors Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez- RefAuthors Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., RefAuthors Cheng, L. RefTitle FGFR3 and TP53 mutation analysis in inverted urothelial RefTitle papilloma: incidence and etiological considerations. RefLoc Mod Pathol 22:627-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13246 Feature /change: c -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1966 Feature /codon: cac -> gac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 643 Feature /change: H -> D Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_D641N(1); standard; MUTATION; PK Accession K01159 Systematic name g.13240G>A, c.1921G>A, r.1921g>a, p.Asp641Asn Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [40] RefCrossRef PUBMED; 19287463 RefAuthors Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez- RefAuthors Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., RefAuthors Cheng, L. RefTitle FGFR3 and TP53 mutation analysis in inverted urothelial RefTitle papilloma: incidence and etiological considerations. RefLoc Mod Pathol 22:627-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13240 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1960 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 641 Feature /change: D -> N Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID FGFR3_E627D(1); standard; MUTATION; PK Accession K01160 Systematic name g.13200G>T, c.1881G>T, r.1881g>u, p.Glu627Asp Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [41] RefCrossRef PUBMED; 19287463 RefAuthors Lott, S., Wang, M., Zhang, S., MacLennan, G. T., Lopez- RefAuthors Beltran, A., Montironi, R., Sung, M. T., Tan, P. H., RefAuthors Cheng, L. RefTitle FGFR3 and TP53 mutation analysis in inverted urothelial RefTitle papilloma: incidence and etiological considerations. RefLoc Mod Pathol 22:627-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13200 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1920 Feature /codon: gag -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 627 Feature /change: E -> D Feature /domain: PK Diagnosis Urothelial cell carcinoma (UCC) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FGFR3_D617G(1); standard; MUTATION; PK Accession K01161 Systematic name g.13169A>G, c.1850A>G, r.1850a>g, p.Asp617Gly Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [42] RefCrossRef PUBMED; 19327639 RefAuthors Chou, A., Dekker, N., Jordan, R. C. RefTitle Identification of novel fibroblast growth factor receptor RefTitle 3 gene mutations in actinic cheilitis and squamous cell RefTitle carcinoma of the lip. RefLoc Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:535-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13169 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1889 Feature /codon: gac -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 617 Feature /change: D -> G Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Squamous cell carcinoma // ID FGFR3_V630M(1); standard; MUTATION; PK Accession K01162 Systematic name g.13207G>A, c.1888G>A, r.1888g>a, p.Val630Met Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [42] RefCrossRef PUBMED; 19327639 RefAuthors Chou, A., Dekker, N., Jordan, R. C. RefTitle Identification of novel fibroblast growth factor receptor RefTitle 3 gene mutations in actinic cheilitis and squamous cell RefTitle carcinoma of the lip. RefLoc Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:535-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13207 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1927 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 630 Feature /change: V -> M Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Actinic Cheilitis with mild dysplasia // ID FGFR3_E686K(1); standard; MUTATION; PK Accession K01163 Systematic name g.13676G>A, c.2056G>A, r.2056g>a, p.Glu686Lys Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [42] RefCrossRef PUBMED; 19327639 RefAuthors Chou, A., Dekker, N., Jordan, R. C. RefTitle Identification of novel fibroblast growth factor receptor RefTitle 3 gene mutations in actinic cheilitis and squamous cell RefTitle carcinoma of the lip. RefLoc Oral Surg Oral Med Oral Pathol Oral Radiol Endod 107:535-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 13676 Feature /change: g -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 2095 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 686 Feature /change: E -> K Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Diseases: Actinic Cheilitis // ID FGFR3_Q485R(1); standard; MUTATION; PK Accession K01164 Systematic name g.12501A>G, c.1454A>G, r.1454a>g, p.Gln485Arg Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 19-Jul-2011 (Rel. 3, Created) Date 19-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [43] RefCrossRef PUBMED; 19449430 RefAuthors Pannier, S., Martinovic, J., Heuertz, S., Delezoide, A. RefAuthors L., Munnich, A., Schibler, L., Serre, V., Legeai-Mallet, RefAuthors L. RefTitle Thanatophoric dysplasia caused by double missense FGFR3 RefTitle mutations. RefLoc Am J Med Genet A 149A:1296-301 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FGFR3_DNA: 12501 Feature /change: a -> g Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: M58051; GI:120050; M58051: 1493 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGR3_HUMAN: 485 Feature /change: Q -> R Feature /domain: PK Diagnosis Thanatophoric dysplasia (TD) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_K663Q(1); standard; MUTATION; PK Accession K01165 Systematic name g.43370A>C, c.1987A>C, r.1987a>c, p.Lys663Gln Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16990784 RefAuthors Schittenhelm, M. M., Yee, K. W., Tyner, J. W., McGreevey, RefAuthors L., Haley, A. D., Town, A., Griffith, D. J., Bainbridge, RefAuthors T., Braziel, R. M., O'Farrell, A. M., Cherrington, J. M., RefAuthors Heinrich, M. C. RefTitle FLT3 K663Q is a novel AML-associated oncogenic kinase: RefTitle Determination of biochemical properties and sensitivity to RefTitle Sunitinib (SU11248). RefLoc Leukemia 20:2008-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 43370 Feature /change: a -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2044 Feature /codon: aag -> cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 663 Feature /change: K -> Q Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID FLT3_Y842C(1); standard; MUTATION; PK Accession K01166 Systematic name g.53131A>G, c.2525A>G, r.2525a>g, p.Tyr842Cys Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20875128 RefAuthors Chang, P., Kang, M., Xiao, A., Chang, J., Feusner, J., RefAuthors Buffler, P., Wiemels, J. RefTitle FLT3 mutation incidence and timing of origin in a RefTitle population case series of pediatric leukemia. RefLoc BMC Cancer 10:513 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: FLT3_DNA: 53131 Feature /change: a -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: U02687; GI:544320; HS02687: 2582 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FLT3_HUMAN: 842 Feature /change: Y -> C Feature /domain: PK Diagnosis Acute myeloid leukemia Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Pediatric Leukemia // ID RET_S819N(1); standard; MUTATION; PK Accession K01167 Systematic name g.43531G>A, c.2456G>A, r.2456g>a, p.Ser819Asn Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43531 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2651 Feature /codon: agc -> aac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 819 Feature /change: S -> N Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The amino acid change should be p.Ser819Asn which differs Comment -!-from the reference article // ID RET_R844Q(1); standard; MUTATION; PK Accession K01168 Systematic name g.43606G>A, c.2531G>A, r.2531g>a, p.Arg844Gln Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18058472 RefAuthors Paszko, Z., Sromek, M., Czetwertynska, M., Skasko, E., RefAuthors Czapczak, D., Wisniewska, A., Prokurat, A., Chrupek, M., RefAuthors Jagielska, A., Kozlowicz-Gudzinska, I. RefTitle The occurrence and the type of germline mutations in the RefTitle RET gene in patients with medullary thyroid carcinoma and RefTitle their unaffected kindred's from Central Poland. RefLoc Cancer Invest 25:742-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43606 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2726 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 844 Feature /change: R -> Q Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_V778I(1); standard; MUTATION; PK Accession K01169 Systematic name g.42357G>A, c.2332G>A, r.2332g>a, p.Val778Ile Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 18252215 RefAuthors Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. RefAuthors E., Freemerman, A. J. RefTitle Renal aplasia in humans is associated with RET mutations. RefLoc Am J Hum Genet 82:344-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42357 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2527 Feature /codon: gtc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 778 Feature /change: V -> I Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RET_G894S(1); standard; MUTATION; PK Accession K01170 Systematic name g.44090G>A, c.2680G>A, r.2680g>a, p.Gly894Ser Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 18252215 RefAuthors Skinner, M. A., Safford, S. D., Reeves, J. G., Jackson, M. RefAuthors E., Freemerman, A. J. RefTitle Renal aplasia in humans is associated with RET mutations. RefLoc Am J Hum Genet 82:344-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44090 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2875 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 894 Feature /change: G -> S Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_R833C(1); standard; MUTATION; PK Accession K01171 Systematic name g.43572C>T, c.2497C>T, r.2497c>u, p.Arg833Cys Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [9] RefCrossRef PUBMED; 16469774 RefAuthors Cranston, A., Carniti, C., Martin, S., Mondellini, P., RefAuthors Hooks, Y., Leyland, J., Hodgson, S., Clarke, S., Pierotti, RefAuthors M., Ponder, B. A., Bongarzone, I. RefTitle A novel activating mutation in the RET tyrosine kinase RefTitle domain mediates neoplastic transformation. RefLoc Mol Endocrinol 20:1633-43 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43572 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2692 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 833 Feature /change: R -> C Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_N777S(1); standard; MUTATION; PK Accession K01172 Systematic name g.42355A>G, c.2330A>G, r.2330a>g, p.Asn777Ser Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 16384843 RefAuthors D'Aloiso, L., Carlomagno, F., Bisceglia, M., Anaganti, S., RefAuthors Ferretti, E., Verrienti, A., Arturi, F., Scarpelli, D., RefAuthors Russo, D., Santoro, M., Filetti, S. RefTitle Clinical case seminar: in vivo and in vitro RefTitle characterization of a novel germline RET mutation RefTitle associated with low-penetrant nonaggressive familial RefTitle medullary thyroid carcinoma. RefLoc J Clin Endocrinol Metab 91:754-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 42355 Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2525 Feature /codon: aac -> agc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 777 Feature /change: N -> S Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID RET_S904S(2); standard; MUTATION; PK Accession K01173 Systematic name g.44122C>G, c.2712C>G, r.2712c>g, p.Ser904Ser Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 16525712 RefAuthors Fernandez, R. M., Navarro, E., Antinolo, G., Ruiz-Ferrer, RefAuthors M., Borrego, S. RefTitle Evaluation of the role of RET polymorphisms/haplotypes as RefTitle modifier loci for MEN 2, and analysis of the correlation RefTitle with the type of RET mutation in a series of Spanish RefTitle patients. RefLoc Int J Mol Med 17:575-81 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44122 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2907 Feature /codon: tcc -> tcg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 904 Feature /change: S -> S Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Polymorphism // ID RET_S836S(1); standard; MUTATION; PK Accession K01174 Systematic name g.43583C>T, c.2508C>T, r.2508c>u, p.Ser836Ser Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 16525712 RefAuthors Fernandez, R. M., Navarro, E., Antinolo, G., Ruiz-Ferrer, RefAuthors M., Borrego, S. RefTitle Evaluation of the role of RET polymorphisms/haplotypes as RefTitle modifier loci for MEN 2, and analysis of the correlation RefTitle with the type of RET mutation in a series of Spanish RefTitle patients. RefLoc Int J Mol Med 17:575-81 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43583 Feature /change: c -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2703 Feature /codon: agc -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 836 Feature /change: S -> S Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Polymorphism // ID RET_K758E(1); standard; MUTATION; PK Accession K01175 Systematic name g.40656A>G, c.2272A>G, r.2272a>g, p.Lys758Glu Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [13] RefCrossRef PUBMED; 16534860 RefAuthors Tou, J. F., Li, M. J., Guan, T., Li, J. C., Zhu, X. K., RefAuthors Feng, Z. G. RefTitle Mutation of RET proto-oncogene in Hirschsprung's disease RefTitle and intestinal neuronal dysplasia. RefLoc World J Gastroenterol 12:1136-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 40656 Feature /change: a -> g Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2467 Feature /codon: aag -> gag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 758 Feature /change: K -> E Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Diagnosis Hirschsprung disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The amino acid change should be p.Lys758Glu which differs Comment -!-from the reference article. // ID MET_V1121I(1); standard; MUTATION; PK Accession K01176 Systematic name g.107392G>A, c.3361G>A, r.3361g>a, p.Val1121Ile Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18636147 RefAuthors Salvi, A., Marchina, E., Benetti, A., Grigolato, P., De RefAuthors Petro, G., Barlati, S. RefTitle Germline and somatic c-met mutations in RefTitle multifocal/bilateral and sporadic papillary renal RefTitle carcinomas of selected patients. RefLoc Int J Oncol 33:271-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: MET_DNA: 107392 Feature /change: g -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X54559; GI:125484; X54559: 3555 Feature /codon: gtt -> att; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MET_HUMAN: 1121 Feature /change: V -> I Feature /domain: PK Diagnosis Hereditary papillary renal carcinoma Occurrence Families: 1; Patients: 3; Homozygotes: 0 Comment -!-The nucleotide change and amino acid change(3361G>A and Comment -!-V1121I) differs from the reference( 3522G>A and V1110I) // ID RET_M1009V(1); standard; MUTATION; PK Accession K01177 Systematic name g.48905A>G, c.3025A>G, r.3025a>g, p.Met1009Val Description A point mutation in the exon 18 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 17270543 RefAuthors Moore, S. W., Appfelstaedt, J., Zaahl, M. G. RefTitle Familial medullary carcinoma prevention, risk evaluation, RefTitle and RET in children of families with MEN2. RefLoc J Pediatr Surg 42:326-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 48905 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 3220 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 1009 Feature /change: M -> V Feature /domain: PK Diagnosis Familial medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RET_A750P(1); standard; MUTATION; PK Accession K01178 Systematic name g.40632G>C, c.2248G>C, r.2248g>c, p.Ala750Pro Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 17270543 RefAuthors Moore, S. W., Appfelstaedt, J., Zaahl, M. G. RefTitle Familial medullary carcinoma prevention, risk evaluation, RefTitle and RET in children of families with MEN2. RefLoc J Pediatr Surg 42:326-32 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 40632 Feature /change: g -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2443 Feature /codon: gca -> cca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 750 Feature /change: A -> P Feature /domain: PK Diagnosis Multiple endocrine neoplasia type II Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID RET_R844W(1); standard; MUTATION; PK Accession K01179 Systematic name g.43605C>T, c.2530C>T, r.2530c>u, p.Arg844Trp Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16818057 RefAuthors Kim, J. H., Yoon, K. O., Kim, J. K., Kim, J. W., Lee, S. RefAuthors K., Kong, S. Y., Seo, J. M. RefTitle Novel mutations of RET gene in Korean patients with RefTitle sporadic Hirschsprung's disease. RefLoc J Pediatr Surg 41:1250-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 43605 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2725 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 844 Feature /change: R -> W Feature /domain: PK Diagnosis Hirschsprung disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID RET_R886W(1); standard; MUTATION; PK Accession K01180 Systematic name g.44066C>T, c.2656C>T, r.2656c>u, p.Arg886Trp Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 20-Jul-2011 (Rel. 3, Created) Date 20-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 16712668 RefAuthors Prazeres, H. J., Rodrigues, F., Figueiredo, P., Naidenov, RefAuthors P., Soares, P., Bugalho, M. J., Lacerda, M., Campos, B., RefAuthors Martins, T. C. RefTitle Occurrence of the Cys611Tyr mutation and a novel Arg886Trp RefTitle substitution in the RET proto-oncogene in multiple RefTitle endocrine neoplasia type 2 families and sporadic medullary RefTitle thyroid carcinoma cases originating from the central RefTitle region of Portugal. RefLoc Clin Endocrinol (Oxf) 64:659-66 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: RET_DNA: 44066 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: REFSEQ: NM_000323; GI:547807; NM_000323: 2851 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: RET_HUMAN: 886 Feature /change: R -> W Feature /domain: PK Diagnosis Sporadic medullary thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_W221X(2); standard; MUTATION; PK Accession K01181 Systematic name g.3002G>A, c.663G>A, r.663g>a, p.Trp221X Description A point mutation in the exon 5 leading to a premature stop Description codon in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3002 Feature /change: g -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 945 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 221 Feature /change: W -> X Feature /domain: PK Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID ACVRL1_D330Y(1); standard; MUTATION; PK Accession K01182 Systematic name g.3966G>T, c.988G>T, r.988g>u, p.Asp330Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 RefNumber [6] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 RefNumber [9] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3966 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1270 Feature /codon: gac -> tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 330 Feature /change: D -> Y Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVRL1_@L310X393(1); standard; MUTATION; PK Accession K01183 Systematic name g.3905_3906insA, c.927_928insA, r.927_928insa, Systematic name p.Leu310fsX81 Description A frame shift insertion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18673552 RefAuthors Fontalba, A., Fernandez-L, A., Garcia-Alegria, E., RefAuthors Albinana, V., Garrido-Martin, E. M., Blanco, F. J., RefAuthors Zarrabeitia, R., Perez-Molino, A., Bernabeu-Herrero, M. RefAuthors E., Ojeda, M. L., Fernandez-Luna, J. L., Bernabeu, C., RefAuthors Botella, L. M. RefTitle Mutation study of Spanish patients with hereditary RefTitle hemorrhagic telangiectasia. RefLoc BMC Med Genet 9:75 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: IDRefSeq: ACVRL1_DNA: 3906 Feature /change: +a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1210 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 310 Feature /change: L -> Feature /change: TGAPARGDLR YTGQTSHCPP RLQEPQCAGQ EQPAVLHRRP Feature /change: GPGCDALTGQ RLPGHRQQPE SGHQAVHGTR GAGRADPHGL LX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_#S232-1(2); standard; MUTATION; PK Accession K01184 Systematic name g.3033delT, c.694delT, r.694delu, p.Ser232fsX25 Description A frame shift deletion mutation in the exon 5 leading to a Description premature stop codon in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 3033 Feature /change: -t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 976 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 232 Feature /change: S -> PRGMNSPGSG RLRSITQYCS DTTTSX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TEK_Y897H(1); standard; MUTATION; PK Accession K01185 Systematic name g.55886T>C, c.2689T>C, r.2689u>c, p.Tyr897His Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 RefNumber [3] RefCrossRef PUBMED; 19079259 RefAuthors Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., RefAuthors Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., RefAuthors Vikkula, M. RefTitle Somatic mutations in angiopoietin receptor gene TEK cause RefTitle solitary and multiple sporadic venous malformations. RefLoc Nat Genet 41:118-24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55886 Feature /change: t -> c Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2837 Feature /codon: tac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 897 Feature /change: Y -> H Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TEK_Y897F(1); standard; MUTATION; PK Accession K01186 Systematic name g.55887A>T, c.2690A>T, r.2690a>u, p.Tyr897Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 RefNumber [3] RefCrossRef PUBMED; 19079259 RefAuthors Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., RefAuthors Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., RefAuthors Vikkula, M. RefTitle Somatic mutations in angiopoietin receptor gene TEK cause RefTitle solitary and multiple sporadic venous malformations. RefLoc Nat Genet 41:118-24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55887 Feature /change: a -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2838 Feature /codon: tac -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 897 Feature /change: Y -> F Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TEK_L914F(1); standard; MUTATION; PK Accession K01187 Systematic name g.55937C>T, c.2740C>T, r.2740c>u, p.Leu914Phe Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55937 Feature /change: c -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2888 Feature /codon: ctt -> ttt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 914 Feature /change: L -> F Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TEK_R915C(1); standard; MUTATION; PK Accession K01188 Systematic name g.55940C>T, c.2743C>T, r.2743c>u, p.Arg915Cys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 RefNumber [3] RefCrossRef PUBMED; 19079259 RefAuthors Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., RefAuthors Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., RefAuthors Vikkula, M. RefTitle Somatic mutations in angiopoietin receptor gene TEK cause RefTitle solitary and multiple sporadic venous malformations. RefLoc Nat Genet 41:118-24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55940 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2891 Feature /codon: cgc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 915 Feature /change: R -> C Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TEK_R915L(1); standard; MUTATION; PK Accession K01189 Systematic name g.55941G>T, c.2744G>T, r.2744g>u, p.Arg915Leu Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 RefNumber [3] RefCrossRef PUBMED; 19079259 RefAuthors Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., RefAuthors Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., RefAuthors Vikkula, M. RefTitle Somatic mutations in angiopoietin receptor gene TEK cause RefTitle solitary and multiple sporadic venous malformations. RefLoc Nat Genet 41:118-24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55941 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2892 Feature /codon: cgc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 915 Feature /change: R -> L Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TEK_S917I(1); standard; MUTATION; PK Accession K01190 Systematic name g.55947G>T, c.2750G>T, r.2750g>u, p.Ser917Ile Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 22-Jul-2011 (Rel. 3, Created) Date 22-Jul-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 17803937 RefAuthors Chen, H., Ma, J., Li, W., Eliseenkova, A. V., Xu, C., RefAuthors Neubert, T. A., Miller, W. T., Mohammadi, M. RefTitle A molecular brake in the kinase hinge region regulates the RefTitle activity of receptor tyrosine kinases. RefLoc Mol Cell 27:717-30 RefNumber [3] RefCrossRef PUBMED; 19079259 RefAuthors Limaye, N., Wouters, V., Uebelhoer, M., Tuominen, M., RefAuthors Wirkkala, R., Mulliken, J. B., Eklund, L., Boon, L. M., RefAuthors Vikkula, M. RefTitle Somatic mutations in angiopoietin receptor gene TEK cause RefTitle solitary and multiple sporadic venous malformations. RefLoc Nat Genet 41:118-24 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TEK_DNA: 55947 Feature /change: g -> t Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: L06139; GI:464868; HSTEKRPTK: 2898 Feature /codon: agc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TIE2_HUMAN: 917 Feature /change: S -> I Feature /domain: PK Diagnosis Multiple venous malformations of the skin and mucous membranes Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR1B_R486W(1); standard; MUTATION; PK Accession K01191 Systematic name g.397653C>T, c.1456C>T, r.1456c>u, p.Arg486Trp Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 11-Aug-2011 (Rel. 3, Created) Date 11-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14523231 RefAuthors Lehmann, K., Seemann, P., Stricker, S., Sammar, M., Meyer, RefAuthors B., Suring, K., Majewski, F., Tinschert, S., Grzeschik, K. RefAuthors H., Muller, D., Knaus, P., Nurnberg, P., Mundlos, S. RefTitle Mutations in bone morphogenetic protein receptor 1B cause RefTitle brachydactyly type A2. RefLoc Proc Natl Acad Sci U S A 100:12277-82 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 397653 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001203.2; GI:4502431; NM_001203.2: 1730 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR1B_HUMAN: 486 Feature /change: R -> W Feature /domain: PK Diagnosis Type A2 brachydactyly Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BMPR1B_R486Q(1); standard; MUTATION; PK Accession K01192 Systematic name g.397654G>A, c.1457G>A, r.1457g>a, p.Arg486Gln Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 11-Aug-2011 (Rel. 3, Created) Date 11-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16957682 RefAuthors Lehmann, K., Seemann, P., Boergermann, J., Morin, G., RefAuthors Reif, S., Knaus, P., Mundlos, S. RefTitle A novel R486Q mutation in BMPR1B resulting in either a RefTitle brachydactyly type C/symphalangism-like phenotype or RefTitle brachydactyly type A2. RefLoc Eur J Hum Genet 14:1248-54 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 397654 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001203.2; GI:4502431; NM_001203.2: 1731 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMR1B_HUMAN: 486 Feature /change: R -> Q Feature /domain: PK Diagnosis Type A2 brachydactyly Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVRL1_F425V(1); standard; MUTATION; PK Accession K01193 Systematic name g.7537T>G, c.1273T>G, r.1273u>g, p.Phe425Val Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15712270 RefAuthors Kuehl, H. K., Caselitz, M., Hasenkamp, S., Wagner, S., El- RefAuthors Harith, e. l. -. H. A., Manns, M. P., Stuhrmann, M. RefTitle Hepatic manifestation is associated with ALK1 in RefTitle hereditary hemorrhagic telangiectasia: identification of RefTitle five novel ALK1 and one novel ENG mutations. RefLoc Hum Mutat 25:320 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7537 Feature /change: t -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1555 Feature /codon: ttc -> gtc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 425 Feature /change: F -> V Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#F425-1(1); standard; MUTATION; PK Accession K01194 Systematic name g.7538delT, c.1274delT, r.1274delu, p.Phe425fsX13 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15712270 RefAuthors Kuehl, H. K., Caselitz, M., Hasenkamp, S., Wagner, S., El- RefAuthors Harith, e. l. -. H. A., Manns, M. P., Stuhrmann, M. RefTitle Hepatic manifestation is associated with ALK1 in RefTitle hereditary hemorrhagic telangiectasia: identification of RefTitle five novel ALK1 and one novel ENG mutations. RefLoc Hum Mutat 25:320 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: IDRefSeq: ACVRL1_DNA: 7538 Feature /change: -t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1556 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 425 Feature /change: F -> SMMWCPMTPA LRTX Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P378H(1); standard; MUTATION; PK Accession K01195 Systematic name g.4646C>A, c.1133C>A, r.1133c>a, p.Pro378His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4646 Feature /change: c -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1415 Feature /codon: ccc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 378 Feature /change: P -> H Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ACVRL1_R386H(1); standard; MUTATION; PK Accession K01196 Systematic name g.4670G>A, c.1157G>A, r.1157g>a, p.Arg386His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4670 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1439 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 386 Feature /change: R -> H Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P424S(1); standard; MUTATION; PK Accession K01197 Systematic name g.7534C>T, c.1270C>T, r.1270c>u, p.Pro424Ser Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7534 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1552 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 424 Feature /change: P -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_V441M(1); standard; MUTATION; PK Accession K01198 Systematic name g.7585G>A, c.1321G>A, r.1321g>a, p.Val441Met Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 RefNumber [6] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7585 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1603 Feature /codon: gtg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 441 Feature /change: V -> M Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P452L(1); standard; MUTATION; PK Accession K01199 Systematic name g.7619C>T, c.1355C>T, r.1355c>u, p.Pro452Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7619 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1637 Feature /codon: cct -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 452 Feature /change: P -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID ACVRL1_I276T(1); standard; MUTATION; PK Accession K01200 Systematic name g.3805T>C, c.827T>C, r.827u>c, p.Ile276Thr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3805 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1109 Feature /codon: atc -> acc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 276 Feature /change: I -> T Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID ACVRL1_S284F(1); standard; MUTATION; PK Accession K01201 Systematic name g.3829C>T, c.851C>T, r.851c>u, p.Ser284Phe Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3829 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1133 Feature /codon: tcc -> ttc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 284 Feature /change: S -> F Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_S305P(1); standard; MUTATION; PK Accession K01202 Systematic name g.3891T>C, c.913T>C, r.913u>c, p.Ser305Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3891 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1195 Feature /codon: tcc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 305 Feature /change: S -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_Q357X(1); standard; MUTATION; PK Accession K01203 Systematic name g.4582C>T, c.1069C>T, r.1069c>u, p.Gln357X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 15712271 RefAuthors Abdalla, S. A., Cymerman, U., Rushlow, D., Chen, N., RefAuthors Stoeber, G. P., Lemire, E. G., Letarte, M. RefTitle Novel mutations and polymorphisms in genes causing RefTitle hereditary hemorrhagic telangiectasia. RefLoc Hum Mutat 25:320-1 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4582 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1351 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 357 Feature /change: Q -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Several other family member,but not reported how many. // ID ACVRL1_P433S(1); standard; MUTATION; PK Accession K01204 Systematic name g.7561C>T, c.1297C>T, r.1297c>u, p.Pro433Ser Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7561 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1579 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 433 Feature /change: P -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID ACVRL1_T481I(1); standard; MUTATION; PK Accession K01205 Systematic name g.9349C>T, c.1442C>T, r.1442c>u, p.Thr481Ile Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 9349 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1724 Feature /codon: acc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 481 Feature /change: T -> I Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID ACVRL1_R329H(1); standard; MUTATION; PK Accession K01206 Systematic name g.3964G>A, c.986G>A, r.986g>a, p.Arg329His Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16123970 RefAuthors Argyriou, L., Pfitzmann, R., Wehner, L. E., Twelkemeyer, RefAuthors S., Neuhaus, P., Nayernia, K., Engel, W. RefTitle ALK-1 mutations in liver transplanted patients with RefTitle hereditary hemorrhagic telangiectasia. RefLoc Liver Transpl 11:1132-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3964 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1268 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 329 Feature /change: R -> H Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_K229M(1); standard; MUTATION; PK Accession K01207 Systematic name g.3025A>T, c.686A>T, r.686a>u, p.Lys229Met Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3025 Feature /change: a -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 968 Feature /codon: aag -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 229 Feature /change: K -> M Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_T372I(1); standard; MUTATION; PK Accession K01208 Systematic name g.4628C>T, c.1115C>T, r.1115c>u, p.Thr372Ile Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4628 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1397 Feature /codon: acc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 372 Feature /change: T -> I Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_L403P(1); standard; MUTATION; PK Accession K01209 Systematic name g.4721T>C, c.1208T>C, r.1208u>c, p.Leu403Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 RefNumber [7] RefCrossRef PUBMED; 16525724 RefAuthors Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. RefAuthors E., Teske, U., Engel, W., Nayernia, K. RefTitle Novel mutations in the ENG and ACVRL1 genes causing RefTitle hereditary hemorrhagic teleangiectasia. RefLoc Int J Mol Med 17:655-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4721 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1490 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 403 Feature /change: L -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVRL1_Y286X(2); standard; MUTATION; PK Accession K01210 Systematic name g.3836C>A, c.858C>A, r.858c>a, p.Tyr286X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 RefNumber [8] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3836 Feature /change: c -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1140 Feature /codon: tac -> taa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 286 Feature /change: Y -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVRL1_Q321X(1); standard; MUTATION; PK Accession K01211 Systematic name g.3939C>T, c.961C>T, r.961c>u, p.Gln321X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3939 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1243 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KIR3_HUMAN: 321 Feature /change: Q -> X Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_W406C(1); standard; MUTATION; PK Accession K01212 Systematic name g.4731G>T, c.1218G>T, r.1218g>u, p.Trp406Cys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16429404 RefAuthors Lenato, G. M., Lastella, P., Di Giacomo, M. C., Resta, N., RefAuthors Suppressa, P., Pasculli, G., Sabba, C., Guanti, G. RefTitle DHPLC-based mutation analysis of ENG and ALK-1 genes in RefTitle HHT Italian population. RefLoc Hum Mutat 27:213-4 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4731 Feature /change: g -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1500 Feature /codon: tgg -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 406 Feature /change: W -> C Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_S233L(1); standard; MUTATION; PK Accession K01213 Systematic name g.3037C>T, c.698C>T, r.698c>u, p.Ser233Leu Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16525724 RefAuthors Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. RefAuthors E., Teske, U., Engel, W., Nayernia, K. RefTitle Novel mutations in the ENG and ACVRL1 genes causing RefTitle hereditary hemorrhagic teleangiectasia. RefLoc Int J Mol Med 17:655-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3037 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 980 Feature /codon: tcg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 233 Feature /change: S -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_T265P(1); standard; MUTATION; PK Accession K01214 Systematic name g.3771A>C, c.793A>C, r.793a>c, p.Thr265Pro Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16525724 RefAuthors Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. RefAuthors E., Teske, U., Engel, W., Nayernia, K. RefTitle Novel mutations in the ENG and ACVRL1 genes causing RefTitle hereditary hemorrhagic teleangiectasia. RefLoc Int J Mol Med 17:655-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 3771 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1075 Feature /codon: acc -> ccc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 265 Feature /change: T -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_G416S(1); standard; MUTATION; PK Accession K01215 Systematic name g.4759G>A, c.1246G>A, r.1246g>a, p.Gly416Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16525724 RefAuthors Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. RefAuthors E., Teske, U., Engel, W., Nayernia, K. RefTitle Novel mutations in the ENG and ACVRL1 genes causing RefTitle hereditary hemorrhagic teleangiectasia. RefLoc Int J Mol Med 17:655-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4759 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1528 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 416 Feature /change: G -> S Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_#S434X438(1); standard; MUTATION; PK Accession K01216 Systematic name g.7566C>A, c.1302C>A, r.1302c>a, p.Ser434Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16525724 RefAuthors Argyriou, L., Twelkemeyer, S., Panchulidze, I., Wehner, L. RefAuthors E., Teske, U., Engel, W., Nayernia, K. RefTitle Novel mutations in the ENG and ACVRL1 genes causing RefTitle hereditary hemorrhagic teleangiectasia. RefLoc Int J Mol Med 17:655-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 7566 Feature /change: c -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1584 Feature /codon: agc -> aga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 434 Feature /change: S -> R Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A400D(1); standard; MUTATION; PK Accession K01217 Systematic name g.4712C>A, c.1199C>A, r.1199c>a, p.Ala400Asp Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4712 Feature /change: c -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1481 Feature /codon: gcc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 400 Feature /change: A -> D Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_P378L(1); standard; MUTATION; PK Accession K01218 Systematic name g.4646C>T, c.1133C>T, r.1133c>u, p.Pro378Leu Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4646 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1415 Feature /codon: ccc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 378 Feature /change: P -> L Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_A352P(1); standard; MUTATION; PK Accession K01219 Systematic name g.4567G>C, c.1054G>C, r.1054g>c, p.Ala352Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4567 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1336 Feature /codon: gct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 352 Feature /change: A -> P Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVRL1_C344F(1); standard; MUTATION; PK Accession K01220 Systematic name g.4009G>T, c.1031G>T, r.1031g>u, p.Cys344Phe Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 12114496 RefAuthors Olivieri, C., Mira, E., Delu, G., Pagella, F., Zambelli, RefAuthors A., Malvezzi, L., Buscarini, E., Danesino, C. RefTitle Identification of 13 new mutations in the ACVRL1 gene in a RefTitle group of 52 unselected Italian patients affected by RefTitle hereditary haemorrhagic telangiectasia. RefLoc J Med Genet 39:E39 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: ACVRL1_DNA: 4009 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22533; GI:3915750; HSALK1A: 1313 Feature /codon: tgt -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KIR3_HUMAN: 344 Feature /change: C -> F Feature /domain: PK Diagnosis Hereditary hemorrhagic telangiectasia type 2 (HHT2) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_N435S(1); standard; MUTATION; PK Accession K01221 Systematic name g.68277A>G, c.1304A>G, r.1304a>g, p.Asn435Ser Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11212236 RefAuthors Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. RefAuthors M., Hughes-Davies, L., Kemp, P. R., Hesketh, R. RefTitle Inhibiting mutations in the transforming growth factor RefTitle beta type 2 receptor in recurrent human breast cancer. RefLoc Cancer Res 61:482-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68277 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2876 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 435 Feature /change: N -> S Feature /domain: PK Diagnosis Human breast cancer Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID TGFBR2_V447A(1); standard; MUTATION; PK Accession K01222 Systematic name g.68313T>C, c.1340T>C, r.1340u>c, p.Val447Ala Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11212236 RefAuthors Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. RefAuthors M., Hughes-Davies, L., Kemp, P. R., Hesketh, R. RefTitle Inhibiting mutations in the transforming growth factor RefTitle beta type 2 receptor in recurrent human breast cancer. RefLoc Cancer Res 61:482-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68313 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2912 Feature /codon: gtc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 447 Feature /change: V -> A Feature /domain: PK Diagnosis Human breast cancer Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID TGFBR2_L452M(1); standard; MUTATION; PK Accession K01223 Systematic name g.68327C>A, c.1354C>A, r.1354c>a, p.Leu452Met Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11212236 RefAuthors Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. RefAuthors M., Hughes-Davies, L., Kemp, P. R., Hesketh, R. RefTitle Inhibiting mutations in the transforming growth factor RefTitle beta type 2 receptor in recurrent human breast cancer. RefLoc Cancer Res 61:482-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 68327 Feature /change: c -> a Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2926 Feature /codon: ctg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 452 Feature /change: L -> M Feature /domain: PK Diagnosis Human breast cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR2_N389N(1); standard; MUTATION; PK Accession K01224 Systematic name g.66473C>T, c.1167C>T, r.1167c>u, p.Asn389Asn Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Aug-2011 (Rel. 3, Created) Date 15-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 11212236 RefAuthors Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. RefAuthors M., Hughes-Davies, L., Kemp, P. R., Hesketh, R. RefTitle Inhibiting mutations in the transforming growth factor RefTitle beta type 2 receptor in recurrent human breast cancer. RefLoc Cancer Res 61:482-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: TGFBR2_DNA: 66473 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: D50683; GI:586086; HSD6831: 2739 Feature /codon: aac -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGR2_HUMAN: 389 Feature /change: N -> N Feature /domain: PK Diagnosis Human breast cancer Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Silent mutation // ID EGFR_W731L(1); standard; MUTATION; PK Accession K01225 Systematic name g.156709G>T, c.2192G>T, r.2192g>u, p.Trp731Leu Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156709 Feature /change: g -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2438 Feature /codon: tgg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 731 Feature /change: W -> L Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_E734Q(1); standard; MUTATION; PK Accession K01226 Systematic name g.156717G>C, c.2200G>C, r.2200g>c, p.Glu734Gln Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156717 Feature /change: g -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2446 Feature /codon: gaa -> caa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 734 Feature /change: E -> Q Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_T785A(1); standard; MUTATION; PK Accession K01227 Systematic name g.163342A>G, c.2353A>G, r.2353a>g, p.Thr785Ala Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163342 Feature /change: a -> g Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2599 Feature /codon: acc -> gcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 785 Feature /change: T -> A Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_C797Y(1); standard; MUTATION; PK Accession K01228 Systematic name g.163379G>A, c.2390G>A, r.2390g>a, p.Cys797Tyr Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163379 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2636 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 797 Feature /change: C -> Y Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_Y801H(1); standard; MUTATION; PK Accession K01229 Systematic name g.163390T>C, c.2401T>C, r.2401u>c, p.Tyr801His Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163390 Feature /change: t -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2647 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 801 Feature /change: Y -> H Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_R831H(1); standard; MUTATION; PK Accession K01230 Systematic name g.173721G>A, c.2492G>A, r.2492g>a, p.Arg831His Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173721 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2738 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 831 Feature /change: R -> H Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_L858R(1); standard; MUTATION; PK Accession K01231 Systematic name g.173802T>G, c.2573T>G, r.2573u>g, p.Leu858Arg Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 RefNumber [2] RefCrossRef PUBMED; 21764376 RefAuthors Yasuda, H., Kobayashi, S., Costa, D. B. RefTitle EGFR exon 20 insertion mutations in non-small-cell lung RefTitle cancer: preclinical data and clinical implications. RefLoc Lancet Oncol: RefNumber [8] RefCrossRef PUBMED; 15870435 RefAuthors Cappuzzo, F., Hirsch, F. R., Rossi, E., Bartolini, S., RefAuthors Ceresoli, G. L., Bemis, L., Haney, J., Witta, S., RefAuthors Danenberg, K., Domenichini, I., Ludovini, V., Magrini, E., RefAuthors Gregorc, V., Doglioni, C., Sidoni, A., Tonato, M., RefAuthors Franklin, W. A., Crino, L., Bunn, P. A., Varella-Garcia, RefAuthors M. RefTitle Epidermal growth factor receptor gene and protein and RefTitle gefitinib sensitivity in non-small-cell lung cancer. RefLoc J Natl Cancer Inst 97:643-55 RefNumber [9] RefCrossRef PUBMED; 16204011 RefAuthors Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., RefAuthors Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., RefAuthors Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., RefAuthors Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., RefAuthors Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, RefAuthors D. A. RefTitle Epidermal growth factor receptor mutations and gene RefTitle amplification in non-small-cell lung cancer: molecular RefTitle analysis of the IDEAL/INTACT gefitinib trials. RefLoc J Clin Oncol 23:8081-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173802 Feature /change: t -> g Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2819 Feature /codon: ctg -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 858 Feature /change: L -> R Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 9; Patients: 9; Homozygotes: 0 // ID EGFR_L861Q(1); standard; MUTATION; PK Accession K01233 Systematic name g.173811T>A, c.2582T>A, r.2582u>a, p.Leu861Gln Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 21252719 RefAuthors Kancha, R. K., Peschel, C., Duyster, J. RefTitle The epidermal growth factor receptor-L861Q mutation RefTitle increases kinase activity without leading to enhanced RefTitle sensitivity toward epidermal growth factor receptor kinase RefTitle inhibitors. RefLoc J Thorac Oncol 6:387-92 RefNumber [2] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173811 Feature /change: t -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2828 Feature /codon: ctg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 861 Feature /change: L -> Q Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID EGFR_E868G(1); standard; MUTATION; PK Accession K01234 Systematic name g.173832A>G, c.2603A>G, r.2603a>g, p.Glu868Gly Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20942962 RefAuthors Foster, J. M., Radhakrishna, U., Govindarajan, V., RefAuthors Carreau, J. H., Gatalica, Z., Sharma, P., Nath, S. K., RefAuthors Loggie, B. W. RefTitle Clinical implications of novel activating EGFR mutations RefTitle in malignant peritoneal mesothelioma. RefLoc World J Surg Oncol 8:88 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173832 Feature /change: a -> g Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2849 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 868 Feature /change: E -> G Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_F856L(1); standard; MUTATION; PK Accession K01235 Systematic name g.173797T>A, c.2568T>A, r.2568u>a, p.Phe856Leu Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173797 Feature /change: t -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2814 Feature /codon: ttt -> tta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 856 Feature /change: F -> L Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_F856Y(1); standard; MUTATION; PK Accession K01236 Systematic name g.173796T>A, c.2567T>A, r.2567u>a, p.Phe856Tyr Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173796 Feature /change: t -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2813 Feature /codon: ttt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 856 Feature /change: F -> Y Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_L828M(1); standard; MUTATION; PK Accession K01237 Systematic name g.173711T>A, c.2482T>A, r.2482u>a, p.Leu828Met Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173711 Feature /change: t -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2728 Feature /codon: ttg -> atg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 828 Feature /change: L -> M Feature /domain: PK Diagnosis Malignant peritoneal mesothelioma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_G863D(1); standard; MUTATION; PK Accession K01238 Systematic name g.173817G>A, c.2588G>A, r.2588g>a, p.Gly863Asp Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 RefNumber [5] RefCrossRef PUBMED; 16204011 RefAuthors Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., RefAuthors Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., RefAuthors Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., RefAuthors Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., RefAuthors Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, RefAuthors D. A. RefTitle Epidermal growth factor receptor mutations and gene RefTitle amplification in non-small-cell lung cancer: molecular RefTitle analysis of the IDEAL/INTACT gefitinib trials. RefLoc J Clin Oncol 23:8081-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173817 Feature /change: g -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2834 Feature /codon: ggt -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 863 Feature /change: G -> D Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID EGFR_V851I(1); standard; MUTATION; PK Accession K01239 Systematic name g.173780G>A, c.2551G>A, r.2551g>a, p.Val851Ile Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 15870435 RefAuthors Cappuzzo, F., Hirsch, F. R., Rossi, E., Bartolini, S., RefAuthors Ceresoli, G. L., Bemis, L., Haney, J., Witta, S., RefAuthors Danenberg, K., Domenichini, I., Ludovini, V., Magrini, E., RefAuthors Gregorc, V., Doglioni, C., Sidoni, A., Tonato, M., RefAuthors Franklin, W. A., Crino, L., Bunn, P. A., Varella-Garcia, RefAuthors M. RefTitle Epidermal growth factor receptor gene and protein and RefTitle gefitinib sensitivity in non-small-cell lung cancer. RefLoc J Natl Cancer Inst 97:643-55 RefNumber [9] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173780 Feature /change: g -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2797 Feature /codon: gtc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 851 Feature /change: V -> I Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID EGFR_V897I(1); standard; MUTATION; PK Accession K01240 Systematic name g.174809G>A, c.2689G>A, r.2689g>a, p.Val897Ile Description A point mutation in the exon 22 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 16204011 RefAuthors Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., RefAuthors Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., RefAuthors Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., RefAuthors Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., RefAuthors Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, RefAuthors D. A. RefTitle Epidermal growth factor receptor mutations and gene RefTitle amplification in non-small-cell lung cancer: molecular RefTitle analysis of the IDEAL/INTACT gefitinib trials. RefLoc J Clin Oncol 23:8081-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 174809 Feature /change: g -> a Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2935 Feature /codon: gtc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 897 Feature /change: V -> I Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_D770N(1); standard; MUTATION; PK Accession K01241 Systematic name g.163297G>A, c.2308G>A, r.2308g>a, p.Asp770Asn Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 16204011 RefAuthors Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., RefAuthors Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., RefAuthors Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., RefAuthors Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., RefAuthors Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, RefAuthors D. A. RefTitle Epidermal growth factor receptor mutations and gene RefTitle amplification in non-small-cell lung cancer: molecular RefTitle analysis of the IDEAL/INTACT gefitinib trials. RefLoc J Clin Oncol 23:8081-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163297 Feature /change: g -> a Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2554 Feature /codon: gac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 770 Feature /change: D -> N Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_T783I(1); standard; MUTATION; PK Accession K01242 Systematic name g.163337C>T, c.2348C>T, r.2348c>u, p.Thr783Ile Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [10] RefCrossRef PUBMED; 16204011 RefAuthors Bell, D. W., Lynch, T. J., Haserlat, S. M., Harris, P. L., RefAuthors Okimoto, R. A., Brannigan, B. W., Sgroi, D. C., Muir, B., RefAuthors Riemenschneider, M. J., Iacona, R. B., Krebs, A. D., RefAuthors Johnson, D. H., Giaccone, G., Herbst, R. S., Manegold, C., RefAuthors Fukuoka, M., Kris, M. G., Baselga, J., Ochs, J. S., Haber, RefAuthors D. A. RefTitle Epidermal growth factor receptor mutations and gene RefTitle amplification in non-small-cell lung cancer: molecular RefTitle analysis of the IDEAL/INTACT gefitinib trials. RefLoc J Clin Oncol 23:8081-92 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163337 Feature /change: c -> t Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2594 Feature /codon: acc -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 783 Feature /change: T -> I Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_A839V(1); standard; MUTATION; PK Accession K01243 Systematic name g.173745C>T, c.2516C>T, r.2516c>u, p.Ala839Val Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173745 Feature /change: c -> t Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2762 Feature /codon: gca -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 839 Feature /change: A -> V Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_G796C(1); standard; MUTATION; PK Accession K01244 Systematic name g.163375G>T, c.2386G>T, r.2386g>u, p.Gly796Cys Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163375 Feature /change: g -> t Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2632 Feature /codon: ggc -> tgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 796 Feature /change: G -> C Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Prostate Cancer // ID EGFR_P877L(1); standard; MUTATION; PK Accession K01245 Systematic name g.174750C>T, c.2630C>T, r.2630c>u, p.Pro877Leu Description A point mutation in the exon 22 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 174750 Feature /change: c -> t Feature /genomic_region: exon; 22 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2876 Feature /codon: cct -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 877 Feature /change: P -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Prostate Cancer The amino acid change varies from the Comment -!-original sequence. // ID EGFR_F795L(1); standard; MUTATION; PK Accession K01246 Systematic name g.163372T>C, c.2383T>C, r.2383u>c, p.Phe795Leu Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163372 Feature /change: t -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2629 Feature /codon: ttc -> ctc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 795 Feature /change: F -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Prostate Cancer Comment -!- The amino acid change varies from the original sequence. // ID EGFR_Q820R(1); standard; MUTATION; PK Accession K01247 Systematic name g.163448A>G, c.2459A>G, r.2459a>g, p.Gln820Arg Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163448 Feature /change: a -> g Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2705 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 820 Feature /change: Q -> R Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Prostate Cancer // ID EGFR_E804G(1); standard; MUTATION; PK Accession K01248 Systematic name g.163400A>G, c.2411A>G, r.2411a>g, p.Glu804Gly Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18193092 RefAuthors Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., RefAuthors Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, RefAuthors P. RefTitle Epidermal growth factor receptor activation in prostate RefTitle cancer by three novel missense mutations. RefLoc Oncogene 27:3201-10 RefNumber [2] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163400 Feature /change: a -> g Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2657 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 804 Feature /change: E -> G Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_R748K(1); standard; MUTATION; PK Accession K01249 Systematic name g.156760G>A, c.2243G>A, r.2243g>a, p.Arg748Lys Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 17376509 RefAuthors Dobashi, Y., Suzuki, S., Sugawara, H., Ooi, A. RefTitle Involvement of epidermal growth factor receptor and RefTitle downstream molecules in bone and soft tissue tumors. RefLoc Hum Pathol 38:914-25 RefNumber [4] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156760 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2489 Feature /codon: aga -> aaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 748 Feature /change: R -> K Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Bone and soft tissue tumors. // ID EGFR_E734K(1); standard; MUTATION; PK Accession K01250 Systematic name g.156717G>A, c.2200G>A, r.2200g>a, p.Glu734Lys Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 17376509 RefAuthors Dobashi, Y., Suzuki, S., Sugawara, H., Ooi, A. RefTitle Involvement of epidermal growth factor receptor and RefTitle downstream molecules in bone and soft tissue tumors. RefLoc Hum Pathol 38:914-25 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156717 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2446 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 734 Feature /change: E -> K Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Bone and soft tissue tumors. // ID EGFR_T751I(1); standard; MUTATION; PK Accession K01251 Systematic name g.156769C>T, c.2252C>T, r.2252c>u, p.Thr751Ile Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16014883 RefAuthors Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel- RefAuthors Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., RefAuthors Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, RefAuthors A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., RefAuthors Pater, J., Shepherd, F. A. RefTitle Erlotinib in lung cancer - molecular and clinical RefTitle predictors of outcome. RefLoc N Engl J Med 353:133-44 RefNumber [7] RefCrossRef PUBMED; 21266046 RefAuthors Peraldo-Neia, C., Migliardi, G., Mello-Grand, M., RefAuthors Montemurro, F., Segir, R., Pignochino, Y., Cavalloni, G., RefAuthors Torchio, B., Mosso, L., Chiorino, G., Aglietta, M. RefTitle Epidermal Growth Factor Receptor (EGFR) mutation analysis, RefTitle gene expression profiling and EGFR protein expression in RefTitle primary prostate cancer. RefLoc BMC Cancer 11:31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156769 Feature /change: c -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2498 Feature /codon: aca -> ata; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 751 Feature /change: T -> I Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Prostate Cancer // ID EGFR_P733L(1); standard; MUTATION; PK Accession K01252 Systematic name g.156715C>T, c.2198C>T, r.2198c>u, p.Pro733Leu Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 16014883 RefAuthors Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel- RefAuthors Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., RefAuthors Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, RefAuthors A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., RefAuthors Pater, J., Shepherd, F. A. RefTitle Erlotinib in lung cancer - molecular and clinical RefTitle predictors of outcome. RefLoc N Engl J Med 353:133-44 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156715 Feature /change: c -> t Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2444 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 733 Feature /change: P -> L Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_V742A(1); standard; MUTATION; PK Accession K01253 Systematic name g.156742T>C, c.2225T>C, r.2225u>c, p.Val742Ala Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 16014883 RefAuthors Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel- RefAuthors Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., RefAuthors Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, RefAuthors A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., RefAuthors Pater, J., Shepherd, F. A. RefTitle Erlotinib in lung cancer - molecular and clinical RefTitle predictors of outcome. RefLoc N Engl J Med 353:133-44 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156742 Feature /change: t -> c Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2471 Feature /codon: gtc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 742 Feature /change: V -> A Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_L792P(1); standard; MUTATION; PK Accession K01254 Systematic name g.163364T>C, c.2375T>C, r.2375u>c, p.Leu792Pro Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 16014883 RefAuthors Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel- RefAuthors Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., RefAuthors Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, RefAuthors A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., RefAuthors Pater, J., Shepherd, F. A. RefTitle Erlotinib in lung cancer - molecular and clinical RefTitle predictors of outcome. RefLoc N Engl J Med 353:133-44 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163364 Feature /change: t -> c Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2621 Feature /codon: ctc -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 792 Feature /change: L -> P Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_V851A(1); standard; MUTATION; PK Accession K01255 Systematic name g.173781T>C, c.2552T>C, r.2552u>c, p.Val851Ala Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 16014883 RefAuthors Tsao, M. S., Sakurada, A., Cutz, J. C., Zhu, C. Q., Kamel- RefAuthors Reid, S., Squire, J., Lorimer, I., Zhang, T., Liu, N., RefAuthors Daneshmand, M., Marrano, P., da Cunha Santos, G., Lagarde, RefAuthors A., Richardson, F., Seymour, L., Whitehead, M., Ding, K., RefAuthors Pater, J., Shepherd, F. A. RefTitle Erlotinib in lung cancer - molecular and clinical RefTitle predictors of outcome. RefLoc N Engl J Med 353:133-44 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173781 Feature /change: t -> c Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2798 Feature /codon: gtc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 851 Feature /change: V -> A Feature /domain: PK Diagnosis NONSMALL CELL LUNG CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_R841K(1); standard; MUTATION; PK Accession K01256 Systematic name g.173751G>A, c.2522G>A, r.2522g>a, p.Arg841Lys Description A point mutation in the exon 21 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 18193092 RefAuthors Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., RefAuthors Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, RefAuthors P. RefTitle Epidermal growth factor receptor activation in prostate RefTitle cancer by three novel missense mutations. RefLoc Oncogene 27:3201-10 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 173751 Feature /change: g -> a Feature /genomic_region: exon; 21 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2768 Feature /codon: agg -> aag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 841 Feature /change: R -> K Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_G735S(1); standard; MUTATION; PK Accession K01257 Systematic name g.156720G>A, c.2203G>A, r.2203g>a, p.Gly735Ser Description A point mutation in the exon 19 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 18193092 RefAuthors Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., RefAuthors Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, RefAuthors P. RefTitle Epidermal growth factor receptor activation in prostate RefTitle cancer by three novel missense mutations. RefLoc Oncogene 27:3201-10 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 156720 Feature /change: g -> a Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2449 Feature /codon: ggt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 735 Feature /change: G -> S Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EGFR_G796S(1); standard; MUTATION; PK Accession K01258 Systematic name g.163375G>A, c.2386G>A, r.2386g>a, p.Gly796Ser Description A point mutation in the exon 20 leading to an amino acid Description change in the PK domain Date 25-Aug-2011 (Rel. 3, Created) Date 25-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 18193092 RefAuthors Cai, C. Q., Peng, Y., Buckley, M. T., Wei, J., Chen, F., RefAuthors Liebes, L., Gerald, W. L., Pincus, M. R., Osman, I., Lee, RefAuthors P. RefTitle Epidermal growth factor receptor activation in prostate RefTitle cancer by three novel missense mutations. RefLoc Oncogene 27:3201-10 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:95678119:96080599:1: 163375 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 20 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_005228.3; GI:29725609; NM_005228.3: 2632 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: EGFR_HUMAN: 796 Feature /change: G -> S Feature /domain: PK Diagnosis Prostate cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID LRRK2_I2012T(1); standard; MUTATION; PK Accession K01259 Systematic name g.144637T>C, c.6035T>C, r.6035u>c, p.Ile2012Thr Description A point mutation in the exon 41 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16622854 RefAuthors Tomiyama, H., Li, Y., Funayama, M., Hasegawa, K., Yoshino, RefAuthors H., Kubo, S., Sato, K., Hattori, T., Lu, C. S., Inzelberg, RefAuthors R., Djaldetti, R., Melamed, E., Amouri, R., Gouider- RefAuthors Khouja, N., Hentati, F., Hatano, Y., Wang, M., Imamichi, RefAuthors Y., Mizoguchi, K., Miyajima, H., Obata, F., Toda, T., RefAuthors Farrer, M. J., Mizuno, Y., Hattori, N. RefTitle Clinicogenetic study of mutations in LRRK2 exon 41 in RefTitle Parkinson's disease patients from 18 countries. RefLoc Mov Disord 21:1102-8 RefNumber [2] RefCrossRef PUBMED; 19472409 RefAuthors Paisan-Ruiz, C. RefTitle LRRK2 gene variation and its contribution to Parkinson RefTitle disease. RefLoc Hum Mutat 30:1153-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144637 Feature /change: t -> c Feature /genomic_region: exon; 41 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6156 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2012 Feature /change: I -> T Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID LRRK2_E2108E(1); standard; MUTATION; PK Accession K01260 Systematic name g.152709G>A, c.6324G>A, r.6324g>a, p.Glu2108Glu Description A point mutation in the exon 43 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 20443975 RefAuthors Abdalla-Carvalho, C. B., Santos-Reboucas, C. B., RefAuthors Guimaraes, B. C., Campos, M., Pereira, J. S., de Rosso, A. RefAuthors L., Nicaretta, D. H., Marinho e Silva, M., dos Santos, M. RefAuthors J., Pimentel, M. M. RefTitle Genetic analysis of LRRK2 functional domains in Brazilian RefTitle patients with Parkinson's disease. RefLoc Eur J Neurol 17:1479-81 RefNumber [1] RefCrossRef PUBMED; 19357115 RefAuthors Lesage, S., Condroyer, C., Lannuzel, A., Lohmann, E., RefAuthors Troiano, A., Tison, F., Damier, P., Thobois, S., Ouvrard- RefAuthors Hernandez, A. M., Rivaud-Pechoux, S., Brefel-Courbon, C., RefAuthors Destee, A., Tranchant, C., Romana, M., Leclere, L., Durr, RefAuthors A., Brice, A., , . RefTitle Molecular analyses of the LRRK2 gene in European and North RefTitle African autosomal dominant Parkinson's disease. RefLoc J Med Genet 46:458-64 RefNumber [23] RefCrossRef PUBMED; 20669299 RefAuthors Ross, O. A., Wilhoite, G. J., Bacon, J. A., Soto-Ortolaza, RefAuthors A., Kachergus, J., Cobb, S. A., Puschmann, A., Vilarino- RefAuthors Guell, C., Farrer, M. J., Graff-Radford, N., Meschia, J. RefAuthors F., Wszolek, Z. K. RefTitle LRRK2 variation and Parkinson's disease in African RefTitle Americans. RefLoc Mov Disord 25:1973-6 RefNumber [24] RefCrossRef PUBMED; 20721913 RefAuthors Jasinska-Myga, B., Kachergus, J., Vilarino-Guell, C., RefAuthors Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. RefAuthors T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, RefAuthors S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., RefAuthors Hentati, F., Farrer, M. J. RefTitle Comprehensive sequencing of the LRRK2 gene in patients RefTitle with familial Parkinson's disease from North Africa. RefLoc Mov Disord 25:2052-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 152709 Feature /change: g -> a Feature /genomic_region: exon; 43 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6445 Feature /codon: gag -> gaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2108 Feature /change: E -> E Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 39; Patients: 39; Homozygotes: 16 Comment -!-Novel polymorphism // ID LRRK2_N2081D(1); standard; MUTATION; PK Accession K01261 Systematic name g.151141A>G, c.6241A>G, r.6241a>g, p.Asn2081Asp Description A point mutation in the exon 42 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 19357115 RefAuthors Lesage, S., Condroyer, C., Lannuzel, A., Lohmann, E., RefAuthors Troiano, A., Tison, F., Damier, P., Thobois, S., Ouvrard- RefAuthors Hernandez, A. M., Rivaud-Pechoux, S., Brefel-Courbon, C., RefAuthors Destee, A., Tranchant, C., Romana, M., Leclere, L., Durr, RefAuthors A., Brice, A., , . RefTitle Molecular analyses of the LRRK2 gene in European and North RefTitle African autosomal dominant Parkinson's disease. RefLoc J Med Genet 46:458-64 RefNumber [3] RefCrossRef PUBMED; 20443975 RefAuthors Abdalla-Carvalho, C. B., Santos-Reboucas, C. B., RefAuthors Guimaraes, B. C., Campos, M., Pereira, J. S., de Rosso, A. RefAuthors L., Nicaretta, D. H., Marinho e Silva, M., dos Santos, M. RefAuthors J., Pimentel, M. M. RefTitle Genetic analysis of LRRK2 functional domains in Brazilian RefTitle patients with Parkinson's disease. RefLoc Eur J Neurol 17:1479-81 RefNumber [25] RefCrossRef PUBMED; 20721913 RefAuthors Jasinska-Myga, B., Kachergus, J., Vilarino-Guell, C., RefAuthors Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. RefAuthors T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, RefAuthors S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., RefAuthors Hentati, F., Farrer, M. J. RefTitle Comprehensive sequencing of the LRRK2 gene in patients RefTitle with familial Parkinson's disease from North Africa. RefLoc Mov Disord 25:2052-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 151141 Feature /change: a -> g Feature /genomic_region: exon; 42 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6362 Feature /codon: aat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2081 Feature /change: N -> D Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 8; Patients: 8; Homozygotes: 0 // ID LRRK2_G2019S(1); standard; MUTATION; PK Accession K01262 Systematic name g.144657G>A, c.6055G>A, r.6055g>a, p.Gly2019Ser Description A point mutation in the exon 41 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 20443975 RefAuthors Abdalla-Carvalho, C. B., Santos-Reboucas, C. B., RefAuthors Guimaraes, B. C., Campos, M., Pereira, J. S., de Rosso, A. RefAuthors L., Nicaretta, D. H., Marinho e Silva, M., dos Santos, M. RefAuthors J., Pimentel, M. M. RefTitle Genetic analysis of LRRK2 functional domains in Brazilian RefTitle patients with Parkinson's disease. RefLoc Eur J Neurol 17:1479-81 RefNumber [5] RefCrossRef PUBMED; 19357115 RefAuthors Lesage, S., Condroyer, C., Lannuzel, A., Lohmann, E., RefAuthors Troiano, A., Tison, F., Damier, P., Thobois, S., Ouvrard- RefAuthors Hernandez, A. M., Rivaud-Pechoux, S., Brefel-Courbon, C., RefAuthors Destee, A., Tranchant, C., Romana, M., Leclere, L., Durr, RefAuthors A., Brice, A., , . RefTitle Molecular analyses of the LRRK2 gene in European and North RefTitle African autosomal dominant Parkinson's disease. RefLoc J Med Genet 46:458-64 RefNumber [6] RefCrossRef PUBMED; 18539535 RefAuthors Hulihan, M. M., Ishihara-Paul, L., Kachergus, J., Warren, RefAuthors L., Amouri, R., Elango, R., Prinjha, R. K., Upmanyu, R., RefAuthors Kefi, M., Zouari, M., Sassi, S. B., Yahmed, S. B., El Euch- RefAuthors Fayeche, G., Matthews, P. M., Middleton, L. T., Gibson, R. RefAuthors A., Hentati, F., Farrer, M. J. RefTitle LRRK2 Gly2019Ser penetrance in Arab-Berber patients from RefTitle Tunisia: a case-control genetic study. RefLoc Lancet Neurol 7:591-4 RefNumber [7] RefCrossRef PUBMED; 16622854 RefAuthors Tomiyama, H., Li, Y., Funayama, M., Hasegawa, K., Yoshino, RefAuthors H., Kubo, S., Sato, K., Hattori, T., Lu, C. S., Inzelberg, RefAuthors R., Djaldetti, R., Melamed, E., Amouri, R., Gouider- RefAuthors Khouja, N., Hentati, F., Hatano, Y., Wang, M., Imamichi, RefAuthors Y., Mizoguchi, K., Miyajima, H., Obata, F., Toda, T., RefAuthors Farrer, M. J., Mizuno, Y., Hattori, N. RefTitle Clinicogenetic study of mutations in LRRK2 exon 41 in RefTitle Parkinson's disease patients from 18 countries. RefLoc Mov Disord 21:1102-8 RefNumber [8] RefCrossRef PUBMED; 18621566 RefAuthors De Rosa, A., Criscuolo, C., Mancini, P., De Martino, M., RefAuthors Giordano, I. A., Pappata, S., Filla, A., De Michele, G. RefTitle Genetic screening for LRRK2 gene G2019S mutation in RefTitle Parkinson's disease patients from Southern Italy. RefLoc Parkinsonism Relat Disord 15:242-4 RefNumber [9] RefCrossRef PUBMED; 19283415 RefAuthors Bar-Shira, A., Hutter, C. M., Giladi, N., Zabetian, C. P., RefAuthors Orr-Urtreger, A. RefTitle Ashkenazi Parkinson's disease patients with the LRRK2 RefTitle G2019S mutation share a common founder dating from the RefTitle second to fifth centuries. RefLoc Neurogenetics 10:355-8 RefNumber [10] RefCrossRef PUBMED; 19412725 RefAuthors Hassin-Baer, S., Laitman, Y., Azizi, E., Molchadski, I., RefAuthors Galore-Haskel, G., Barak, F., Cohen, O. S., Friedman, E. RefTitle The leucine rich repeat kinase 2 (LRRK2) G2019S RefTitle substitution mutation. Association with Parkinson disease, RefTitle malignant melanoma and prevalence in ethnic groups in RefTitle Israel. RefLoc J Neurol 256:483-7 RefNumber [11] RefCrossRef PUBMED; 20721913 RefAuthors Jasinska-Myga, B., Kachergus, J., Vilarino-Guell, C., RefAuthors Wider, C., Soto-Ortolaza, A. I., Kefi, M., Middleton, L. RefAuthors T., Ishihara-Paul, L., Gibson, R. A., Amouri, R., Yahmed, RefAuthors S. B., Sassi, S. B., Zouari, M., El Euch, G., Ross, O. A., RefAuthors Hentati, F., Farrer, M. J. RefTitle Comprehensive sequencing of the LRRK2 gene in patients RefTitle with familial Parkinson's disease from North Africa. RefLoc Mov Disord 25:2052-8 RefNumber [25] RefCrossRef PUBMED; 16272164 RefAuthors Khan, N. L., Jain, S., Lynch, J. M., Pavese, N., Abou- RefAuthors Sleiman, P., Holton, J. L., Healy, D. G., Gilks, W. P., RefAuthors Sweeney, M. G., Ganguly, M., Gibbons, V., Gandhi, S., RefAuthors Vaughan, J., Eunson, L. H., Katzenschlager, R., Gayton, RefAuthors J., Lennox, G., Revesz, T., Nicholl, D., Bhatia, K. P., RefAuthors Quinn, N., Brooks, D., Lees, A. J., Davis, M. B., Piccini, RefAuthors P., Singleton, A. B., Wood, N. W. RefTitle Mutations in the gene LRRK2 encoding dardarin (PARK8) RefTitle cause familial Parkinson's disease: clinical, RefTitle pathological, olfactory and functional imaging and genetic RefTitle data. RefLoc Brain 128:2786-96 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144657 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 41 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6176 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2019 Feature /change: G -> S Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 201; Patients: 213; Homozygotes: 22 // ID LRRK2_I2020T(1); standard; MUTATION; PK Accession K01263 Systematic name g.144661T>C, c.6059T>C, r.6059u>c, p.Ile2020Thr Description A point mutation in the exon 41 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [12] RefCrossRef PUBMED; 15880653 RefAuthors Funayama, M., Hasegawa, K., Ohta, E., Kawashima, N., RefAuthors Komiyama, M., Kowa, H., Tsuji, S., Obata, F. RefTitle An LRRK2 mutation as a cause for the parkinsonism in the RefTitle original PARK8 family. RefLoc Ann Neurol 57:918-21 RefNumber [13] RefCrossRef PUBMED; 16622854 RefAuthors Tomiyama, H., Li, Y., Funayama, M., Hasegawa, K., Yoshino, RefAuthors H., Kubo, S., Sato, K., Hattori, T., Lu, C. S., Inzelberg, RefAuthors R., Djaldetti, R., Melamed, E., Amouri, R., Gouider- RefAuthors Khouja, N., Hentati, F., Hatano, Y., Wang, M., Imamichi, RefAuthors Y., Mizoguchi, K., Miyajima, H., Obata, F., Toda, T., RefAuthors Farrer, M. J., Mizuno, Y., Hattori, N. RefTitle Clinicogenetic study of mutations in LRRK2 exon 41 in RefTitle Parkinson's disease patients from 18 countries. RefLoc Mov Disord 21:1102-8 RefNumber [14] RefCrossRef PUBMED; 19472409 RefAuthors Paisan-Ruiz, C. RefTitle LRRK2 gene variation and its contribution to Parkinson RefTitle disease. RefLoc Hum Mutat 30:1153-60 RefNumber [15] RefCrossRef PUBMED; 15541309 RefAuthors Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., RefAuthors Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., RefAuthors Uitti, R. J., Calne, D. B., Stoessl, A. J., Pfeiffer, R. RefAuthors F., Patenge, N., Carbajal, I. C., Vieregge, P., Asmus, F., RefAuthors Muller-Myhsok, B., Dickson, D. W., Meitinger, T., Strom, RefAuthors T. M., Wszolek, Z. K., Gasser, T. RefTitle Mutations in LRRK2 cause autosomal-dominant parkinsonism RefTitle with pleomorphic pathology. RefLoc Neuron 44:601-7 RefNumber [16] Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144661 Feature /change: t -> c Feature /genomic_region: exon; 41 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6180 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2020 Feature /change: I -> T Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 5; Patients: 62; Homozygotes: 0 // ID LRRK2_R1941H(1); standard; MUTATION; PK Accession K01264 Systematic name g.139288G>A, c.5822G>A, r.5822g>a, p.Arg1941His Description A point mutation in the exon 40 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [17] RefCrossRef PUBMED; 16272164 RefAuthors Khan, N. L., Jain, S., Lynch, J. M., Pavese, N., Abou- RefAuthors Sleiman, P., Holton, J. L., Healy, D. G., Gilks, W. P., RefAuthors Sweeney, M. G., Ganguly, M., Gibbons, V., Gandhi, S., RefAuthors Vaughan, J., Eunson, L. H., Katzenschlager, R., Gayton, RefAuthors J., Lennox, G., Revesz, T., Nicholl, D., Bhatia, K. P., RefAuthors Quinn, N., Brooks, D., Lees, A. J., Davis, M. B., Piccini, RefAuthors P., Singleton, A. B., Wood, N. W. RefTitle Mutations in the gene LRRK2 encoding dardarin (PARK8) RefTitle cause familial Parkinson's disease: clinical, RefTitle pathological, olfactory and functional imaging and genetic RefTitle data. RefLoc Brain 128:2786-96 RefNumber [18] RefCrossRef PUBMED; 19472409 RefAuthors Paisan-Ruiz, C. RefTitle LRRK2 gene variation and its contribution to Parkinson RefTitle disease. RefLoc Hum Mutat 30:1153-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 139288 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 40 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 5943 Feature /codon: cgt -> cat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 1941 Feature /change: R -> H Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID LRRK2_Y2006H(1); standard; MUTATION; PK Accession K01265 Systematic name g.144618T>C, c.6016T>C, r.6016u>c, p.Tyr2006His Description A point mutation in the exon 41 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 17353388 RefAuthors Lesage, S., Janin, S., Lohmann, E., Leutenegger, A. L., RefAuthors Leclere, L., Viallet, F., Pollak, P., Durif, F., Thobois, RefAuthors S., Layet, V., Vidailhet, M., Agid, Y., Durr, A., Brice, RefAuthors A., , ., Bonnet, A. M., Borg, M., Broussolle, E., Damier, RefAuthors P., Destee, A., Martinez, M., Penet, C., Rasco, O., Tison, RefAuthors F., Tranchan, C., Verin, M. RefTitle LRRK2 exon 41 mutations in sporadic Parkinson disease in RefTitle Europeans. RefLoc Arch Neurol 64:425-30 RefNumber [20] RefCrossRef PUBMED; 19472409 RefAuthors Paisan-Ruiz, C. RefTitle LRRK2 gene variation and its contribution to Parkinson RefTitle disease. RefLoc Hum Mutat 30:1153-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144618 Feature /change: t -> c Feature /genomic_region: exon; 41 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6137 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2006 Feature /change: Y -> H Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID LRRK2_T2031S(1); standard; MUTATION; PK Accession K01266 Systematic name g.144693A>T, c.6091A>T, r.6091a>u, p.Thr2031Ser Description A point mutation in the exon 41 leading to an amino acid Description change in the PK domain Date 26-Aug-2011 (Rel. 3, Created) Date 26-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [19] RefCrossRef PUBMED; 17353388 RefAuthors Lesage, S., Janin, S., Lohmann, E., Leutenegger, A. L., RefAuthors Leclere, L., Viallet, F., Pollak, P., Durif, F., Thobois, RefAuthors S., Layet, V., Vidailhet, M., Agid, Y., Durr, A., Brice, RefAuthors A., , ., Bonnet, A. M., Borg, M., Broussolle, E., Damier, RefAuthors P., Destee, A., Martinez, M., Penet, C., Rasco, O., Tison, RefAuthors F., Tranchan, C., Verin, M. RefTitle LRRK2 exon 41 mutations in sporadic Parkinson disease in RefTitle Europeans. RefLoc Arch Neurol 64:425-30 RefNumber [20] RefCrossRef PUBMED; 19472409 RefAuthors Paisan-Ruiz, C. RefTitle LRRK2 gene variation and its contribution to Parkinson RefTitle disease. RefLoc Hum Mutat 30:1153-60 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:12:40589546:40764087:1: 144693 Feature /change: a -> t Feature /genomic_region: exon; 41 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_198578.3; GI:171846278; NM_198578.3: 6212 Feature /codon: aca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: LRRK2_HUMAN: 2031 Feature /change: T -> S Feature /domain: PK Diagnosis PARKINSON DISEASE-8 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID AURKC_#L49X71(1); standard; MUTATION; PK Accession K01267 Systematic name g.2065delC, c.145delC, r.145delc, p.Leu49fsX22 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17435757 RefAuthors Dieterich, K., Soto Rifo, R., Faure, A. K., Hennebicq, S., RefAuthors Ben Amar, B., Zahi, M., Perrin, J., Martinez, D., Sele, RefAuthors B., Jouk, P. S., Ohlmann, T., Rousseaux, S., Lunardi, J., RefAuthors Ray, P. F. RefTitle Homozygous mutation of AURKC yields large-headed polyploid RefTitle spermatozoa and causes male infertility. RefLoc Nat Genet 39:661-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 2065 Feature /change: -c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 334 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: AURKC_HUMAN: 49 Feature /change: L -> WARGNLGMCT WLGSRKAISL WPX Feature /domain: PK Diagnosis SPERMATOGENIC FAILURE 5 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID AURKC_#P48X71(1); standard; MUTATION; PK Accession K01268 Systematic name g.2064delC, c.144delC, r.144delc, p.Leu49fsX22 Description A frame shift deletion mutation in the exon 3 leading to a Description premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 19147683 RefAuthors Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., RefAuthors Martinez, D., Bellayou, H., Prisant, N., Zoghmar, A., RefAuthors Guichaoua, M. R., Koscinski, I., Kharouf, M., Noruzinia, RefAuthors M., Nadifi, S., Sefiani, A., Lornage, J., Zahi, M., RefAuthors Viville, S., Sele, B., Jouk, P. S., Jacob, M. C., RefAuthors Escalier, D., Nikas, Y., Hennebicq, S., Lunardi, J., Ray, RefAuthors P. F. RefTitle The Aurora Kinase C c.144delC mutation causes meiosis I RefTitle arrest in men and is frequent in the North African RefTitle population. RefLoc Hum Mol Genet 18:1301-9 RefNumber [3] RefCrossRef PUBMED; 17435757 RefAuthors Dieterich, K., Soto Rifo, R., Faure, A. K., Hennebicq, S., RefAuthors Ben Amar, B., Zahi, M., Perrin, J., Martinez, D., Sele, RefAuthors B., Jouk, P. S., Ohlmann, T., Rousseaux, S., Lunardi, J., RefAuthors Ray, P. F. RefTitle Homozygous mutation of AURKC yields large-headed polyploid RefTitle spermatozoa and causes male infertility. RefLoc Nat Genet 39:661-5 RefNumber [4] RefCrossRef PUBMED; 21733974 RefAuthors Ben Khelifa, M., Zouari, R., Harbuz, R., Halouani, L., RefAuthors Arnoult, C., Lunardi, J., Ray, P. F. RefTitle A new AURKC mutation causing macrozoospermia: implications RefTitle for human spermatogenesis and clinical diagnosis. RefLoc Mol Hum Reprod: Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 2064 Feature /change: -c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 333 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: AURKC_HUMAN: 48 Feature /change: P -> PWARGNLGMC TWLGSRKAIS LWPX Feature /domain: PK Diagnosis SPERMATOGENIC FAILURE 5 Diagnosis MEIOSIS I ARREST Occurrence Families: 33; Patients: 36; Homozygotes: 32 Comment -!-Male Infertility // ID AURKC_I79V(1); standard; MUTATION; PK Accession K01269 Systematic name g.2155A>G, c.235A>G, r.235a>g, p.Ile79Val Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 19147683 RefAuthors Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., RefAuthors Martinez, D., Bellayou, H., Prisant, N., Zoghmar, A., RefAuthors Guichaoua, M. R., Koscinski, I., Kharouf, M., Noruzinia, RefAuthors M., Nadifi, S., Sefiani, A., Lornage, J., Zahi, M., RefAuthors Viville, S., Sele, B., Jouk, P. S., Jacob, M. C., RefAuthors Escalier, D., Nikas, Y., Hennebicq, S., Lunardi, J., Ray, RefAuthors P. F. RefTitle The Aurora Kinase C c.144delC mutation causes meiosis I RefTitle arrest in men and is frequent in the North African RefTitle population. RefLoc Hum Mol Genet 18:1301-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 2155 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 424 Feature /codon: ata -> gta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AURKC_HUMAN: 79 Feature /change: I -> V Feature /domain: PK Diagnosis SPERMATOGENIC FAILURE 5 Diagnosis MEIOSIS I ARREST Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The patient also carried mutation in c.144delC // ID AURKC_C229Y(1); standard; MUTATION; PK Accession K01270 Systematic name g.4977G>A, c.686G>A, r.686g>a, p.Cys229Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19147683 RefAuthors Dieterich, K., Zouari, R., Harbuz, R., Vialard, F., RefAuthors Martinez, D., Bellayou, H., Prisant, N., Zoghmar, A., RefAuthors Guichaoua, M. R., Koscinski, I., Kharouf, M., Noruzinia, RefAuthors M., Nadifi, S., Sefiani, A., Lornage, J., Zahi, M., RefAuthors Viville, S., Sele, B., Jouk, P. S., Jacob, M. C., RefAuthors Escalier, D., Nikas, Y., Hennebicq, S., Lunardi, J., Ray, RefAuthors P. F. RefTitle The Aurora Kinase C c.144delC mutation causes meiosis I RefTitle arrest in men and is frequent in the North African RefTitle population. RefLoc Hum Mol Genet 18:1301-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:19:57741377:57747915:1: 4977 Feature /change: g -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001015878.1; GI:62865639; NM_001015878.1: 875 Feature /codon: tgc -> tac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AURKC_HUMAN: 229 Feature /change: C -> Y Feature /domain: PK Diagnosis MEIOSIS I ARREST Occurrence Families: ; Patients: ; Homozygotes: Comment -!-The patient is also carried mutation in c.144delC // ID CDKL5_E203X(1); standard; MUTATION; PK Accession K01271 Systematic name g.163424G>T, c.607G>T, r.607g>u, p.Glu203X Description A point mutation in the exon 10 leading to a premature stop Description codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 21160487 RefAuthors Hadzsiev, K., Polgar, N., Bene, J., Komlosi, K., Karteszi, RefAuthors J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B. RefTitle Analysis of Hungarian patients with Rett syndrome RefTitle phenotype for MECP2, CDKL5 and FOXG1 gene mutations. RefLoc J Hum Genet 56:183-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 163424 Feature /change: g -> t Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 856 Feature /codon: gag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 203 Feature /change: E -> X Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_S196L(1); standard; MUTATION; PK Accession K01272 Systematic name g.163404C>T, c.587C>T, r.587c>u, p.Ser196Leu Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20397747 RefAuthors White, R., Ho, G., Schmidt, S., Scheffer, I. E., Fischer, RefAuthors A., Yendle, S. C., Bienvenu, T., Nectoux, J., Ellaway, C. RefAuthors J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, RefAuthors B., Kalra, V., Fullston, T., Gecz, J., Cox, T. C., RefAuthors Christodoulou, J. RefTitle Cyclin-dependent kinase-like 5 (CDKL5) mutation screening RefTitle in Rett syndrome and related disorders. RefLoc Twin Res Hum Genet 13:168-78 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 163404 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 836 Feature /codon: tcg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 196 Feature /change: S -> L Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_G20R(1); standard; MUTATION; PK Accession K01273 Systematic name g.82572G>C, c.58G>C, r.58g>c, p.Gly20Arg Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 20397747 RefAuthors White, R., Ho, G., Schmidt, S., Scheffer, I. E., Fischer, RefAuthors A., Yendle, S. C., Bienvenu, T., Nectoux, J., Ellaway, C. RefAuthors J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, RefAuthors B., Kalra, V., Fullston, T., Gecz, J., Cox, T. C., RefAuthors Christodoulou, J. RefTitle Cyclin-dependent kinase-like 5 (CDKL5) mutation screening RefTitle in Rett syndrome and related disorders. RefLoc Twin Res Hum Genet 13:168-78 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 82572 Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 307 Feature /codon: ggt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 20 Feature /change: G -> R Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_I72T(1); standard; MUTATION; PK Accession K01274 Systematic name g.150841T>C, c.215T>C, r.215u>c, p.Ile72Thr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 RefNumber [26] RefCrossRef PUBMED; 19241098 RefAuthors Russo, S., Marchi, M., Cogliati, F., Bonati, M. T., RefAuthors Pintaudi, M., Veneselli, E., Saletti, V., Balestrini, M., RefAuthors Ben-Zeev, B., Larizza, L. RefTitle Novel mutations in the CDKL5 gene, predicted effects and RefTitle associated phenotypes. RefLoc Neurogenetics 10:241-50 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150841 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 464 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 72 Feature /change: I -> T Feature /domain: PK Diagnosis Rett syndrome (RTT) Diagnosis Rett syndrome (RTT) Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID CDKL5_C152F(1); standard; MUTATION; PK Accession K01275 Systematic name g.157360G>T, c.455G>T, r.455g>u, p.Cys152Phe Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 15499549 RefAuthors Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., RefAuthors Moser, B., Raynaud, M., Sperner, J., Fryns, J. P., RefAuthors Schwinger, E., Gecz, J., Ropers, H. H., Kalscheuer, V. M. RefTitle Mutations in the X-linked cyclin-dependent kinase-like RefTitle 5 (CDKL5/STK9) gene are associated with severe RefTitle neurodevelopmental retardation. RefLoc Am J Hum Genet 75:1149-54 RefNumber [6] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 157360 Feature /change: g -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 704 Feature /codon: tgt -> ttt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 152 Feature /change: C -> F Feature /domain: PK Diagnosis Rett syndrome (RTT) Diagnosis Severe mental retardation Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_R175S(1); standard; MUTATION; PK Accession K01276 Systematic name g.159742A>T, c.525A>T, r.525a>u, p.Arg175Ser Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 15499549 RefAuthors Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., RefAuthors Moser, B., Raynaud, M., Sperner, J., Fryns, J. P., RefAuthors Schwinger, E., Gecz, J., Ropers, H. H., Kalscheuer, V. M. RefTitle Mutations in the X-linked cyclin-dependent kinase-like RefTitle 5 (CDKL5/STK9) gene are associated with severe RefTitle neurodevelopmental retardation. RefLoc Am J Hum Genet 75:1149-54 RefNumber [6] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 RefNumber [25] RefCrossRef PUBMED; 16813600 RefAuthors Nectoux, J., Heron, D., Tallot, M., Chelly, J., Bienvenu, RefAuthors T. RefTitle Maternal origin of a novel C-terminal truncation mutation RefTitle in CDKL5 causing a severe atypical form of Rett syndrome. RefLoc Clin Genet 70:29-33 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 159742 Feature /change: a -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 774 Feature /codon: aga -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 175 Feature /change: R -> S Feature /domain: PK Diagnosis Severe mental retardation Diagnosis Epileptic Encephalopathy-2 Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID CDKL5_I72N(1); standard; MUTATION; PK Accession K01277 Systematic name g.150841T>A, c.215T>A, r.215u>a, p.Ile72Asn Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 16015284 RefAuthors Evans, J. C., Archer, H. L., Colley, J. P., Ravn, K., RefAuthors Nielsen, J. B., Kerr, A., Williams, E., Christodoulou, J., RefAuthors Gecz, J., Jardine, P. E., Wright, M. J., Pilz, D. T., RefAuthors Lazarou, L., Cooper, D. N., Sampson, J. R., Butler, R., RefAuthors Whatley, S. D., Clarke, A. J. RefTitle Early onset seizures and Rett-like features associated RefTitle with mutations in CDKL5. RefLoc Eur J Hum Genet 13:1113-20 RefNumber [8] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150841 Feature /change: t -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 464 Feature /codon: att -> aat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 72 Feature /change: I -> N Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_#E55X74(1); standard; MUTATION; PK Accession K01278 Systematic name g.150789delG, c.163delG, r.163delg, p.Glu55fsX20 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [9] RefCrossRef PUBMED; 15689447 RefAuthors Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, RefAuthors C., Longo, I., Meloni, I., Giachino, D., Bruttini, M., RefAuthors Hayek, G., Zappella, M., Renieri, A. RefTitle CDKL5/STK9 is mutated in Rett syndrome variant with RefTitle infantile spasms. RefLoc J Med Genet 42:103-7 RefNumber [10] RefCrossRef PUBMED; 16015284 RefAuthors Evans, J. C., Archer, H. L., Colley, J. P., Ravn, K., RefAuthors Nielsen, J. B., Kerr, A., Williams, E., Christodoulou, J., RefAuthors Gecz, J., Jardine, P. E., Wright, M. J., Pilz, D. T., RefAuthors Lazarou, L., Cooper, D. N., Sampson, J. R., Butler, R., RefAuthors Whatley, S. D., Clarke, A. J. RefTitle Early onset seizures and Rett-like features associated RefTitle with mutations in CDKL5. RefLoc Eur J Hum Genet 13:1113-20 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150789 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 412 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 55 Feature /change: E -> KRLYESLKCF GLSSRKTLWS X Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_#L61X75(1); standard; MUTATION; PK Accession K01279 Systematic name g.150809delT, c.183delT, r.183delu, p.Met63fsX12 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [11] RefCrossRef PUBMED; 16015284 RefAuthors Evans, J. C., Archer, H. L., Colley, J. P., Ravn, K., RefAuthors Nielsen, J. B., Kerr, A., Williams, E., Christodoulou, J., RefAuthors Gecz, J., Jardine, P. E., Wright, M. J., Pilz, D. T., RefAuthors Lazarou, L., Cooper, D. N., Sampson, J. R., Butler, R., RefAuthors Whatley, S. D., Clarke, A. J. RefTitle Early onset seizures and Rett-like features associated RefTitle with mutations in CDKL5. RefLoc Eur J Hum Genet 13:1113-20 RefNumber [12] RefCrossRef PUBMED; 15492925 RefAuthors Weaving, L. S., Christodoulou, J., Williamson, S. L., RefAuthors Friend, K. L., McKenzie, O. L., Archer, H., Evans, J., RefAuthors Clarke, A., Pelka, G. J., Tam, P. P., Watson, C., Lahooti, RefAuthors H., Ellaway, C. J., Bennetts, B., Leonard, H., Gecz, J. RefTitle Mutations of CDKL5 cause a severe neurodevelopmental RefTitle disorder with infantile spasms and mental retardation. RefLoc Am J Hum Genet 75:1079-93 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150809 Feature /change: -t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 432 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 61 Feature /change: L -> LKCFGLSSRK TLWSX Feature /domain: PK Diagnosis Rett syndrome (RTT) Diagnosis Severe mental retardation Diagnosis X-linked infantile spasm syndrome (ISSX) Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID CDKL5_P180L(1); standard; MUTATION; PK Accession K01280 Systematic name g.159756C>T, c.539C>T, r.539c>u, p.Pro180Leu Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [13] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 RefNumber [14] RefCrossRef PUBMED; 16611748 RefAuthors Archer, H. L., Evans, J., Edwards, S., Colley, J., Newbury- RefAuthors Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., RefAuthors Tolmie, J., Sampson, J., Clarke, A., Osborne, J. RefTitle CDKL5 mutations cause infantile spasms, early onset RefTitle seizures, and severe mental retardation in female RefTitle patients. RefLoc J Med Genet 43:729-34 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 159756 Feature /change: c -> t Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 788 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 180 Feature /change: P -> L Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_R59X(1); standard; MUTATION; PK Accession K01281 Systematic name g.150801C>T, c.175C>T, r.175c>u, p.Arg59X Description A point mutation in the exon 6 leading to a premature stop Description codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [15] RefCrossRef PUBMED; 16611748 RefAuthors Archer, H. L., Evans, J., Edwards, S., Colley, J., Newbury- RefAuthors Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., RefAuthors Tolmie, J., Sampson, J., Clarke, A., Osborne, J. RefTitle CDKL5 mutations cause infantile spasms, early onset RefTitle seizures, and severe mental retardation in female RefTitle patients. RefLoc J Med Genet 43:729-34 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150801 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 424 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 59 Feature /change: R -> X Feature /domain: PK Diagnosis Severe mental retardation Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Infantile Spasms // ID CDKL5_A40V(1); standard; MUTATION; PK Accession K01282 Systematic name g.139914C>T, c.119C>T, r.119c>u, p.Ala40Val Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [16] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 RefNumber [17] RefCrossRef PUBMED; 17993579 RefAuthors Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, RefAuthors J., Girard, B., N'Guyen Morel, M. A., Gitiaux, C., Lazaro, RefAuthors L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. RefTitle Impairment of CDKL5 nuclear localisation as a cause for RefTitle severe infantile encephalopathy. RefLoc J Med Genet 45:172-8 RefNumber [26] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 139914 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 368 Feature /codon: gcg -> gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 40 Feature /change: A -> V Feature /domain: PK Diagnosis Epileptic Encephalopathy-2 Diagnosis Rett syndrome (RTT) Occurrence Families: 4; Patients: 4; Homozygotes: 0 Comment -!-Infantile Spasms Comment -!- Mental Retardation // ID CDKL5_R65Q(1); standard; MUTATION; PK Accession K01283 Systematic name g.150820G>A, c.194G>A, r.194g>a, p.Arg65Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [18] RefCrossRef PUBMED; 17993579 RefAuthors Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, RefAuthors J., Girard, B., N'Guyen Morel, M. A., Gitiaux, C., Lazaro, RefAuthors L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. RefTitle Impairment of CDKL5 nuclear localisation as a cause for RefTitle severe infantile encephalopathy. RefLoc J Med Genet 45:172-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150820 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 443 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 65 Feature /change: R -> Q Feature /domain: PK Diagnosis Epileptic Encephalopathy-2 Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Infantile Spasms Comment -!- Mental Retardation Comment -!- Nucleotide change should be g>a instead of c>a // ID CDKL5_L220P(1); standard; MUTATION; PK Accession K01284 Systematic name g.163476T>C, c.659T>C, r.659u>c, p.Leu220Pro Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [18] RefCrossRef PUBMED; 17993579 RefAuthors Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, RefAuthors J., Girard, B., N'Guyen Morel, M. A., Gitiaux, C., Lazaro, RefAuthors L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. RefTitle Impairment of CDKL5 nuclear localisation as a cause for RefTitle severe infantile encephalopathy. RefLoc J Med Genet 45:172-8 RefNumber [19] RefCrossRef PUBMED; 19396824 RefAuthors Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., RefAuthors Marchi, M., Riva, D. RefTitle A CDKL5 mutated child with precocious puberty. RefLoc Am J Med Genet A 149A:1046-51 RefNumber [26] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 163476 Feature /change: t -> c Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 908 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 220 Feature /change: L -> P Feature /domain: PK Diagnosis Epileptic Encephalopathy-2 Diagnosis Rett syndrome (RTT) Occurrence Families: 3; Patients: 3; Homozygotes: 0 Comment -!-Infantile Spasms Comment -!- Mental Retardation // ID CDKL5_I72I(1); standard; MUTATION; PK Accession K01285 Systematic name g.150842T>A, c.216T>A, r.216u>a, p.Ile72Ile Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [20] RefCrossRef PUBMED; 17089071 RefAuthors Li, M. R., Pan, H., Bao, X. H., Zhang, Y. Z., Wu, X. R. RefTitle MECP2 and CDKL5 gene mutation analysis in Chinese patients RefTitle with Rett syndrome. RefLoc J Hum Genet 52:38-47 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150842 Feature /change: t -> a Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 465 Feature /codon: att -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 72 Feature /change: I -> I Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_C291Y(1); standard; MUTATION; PK Accession K01287 Systematic name g.173926G>A, c.872G>A, r.872g>a, p.Cys291Tyr Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [21] RefCrossRef PUBMED; 18809835 RefAuthors Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, RefAuthors M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo RefAuthors Giudice, M., Fichera, M. RefTitle CDKL5 mutations in boys with severe encephalopathy and RefTitle early-onset intractable epilepsy. RefLoc Neurology 71:997-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 173926 Feature /change: g -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1121 Feature /codon: tgt -> tat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 291 Feature /change: C -> Y Feature /domain: PK Diagnosis Rett syndrome (RTT) Diagnosis Epileptic Encephalopathy-2 Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID CDKL5_T288I(1); standard; MUTATION; PK Accession K01288 Systematic name g.173917C>T, c.863C>T, r.863c>u, p.Thr288Ile Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [22] RefCrossRef PUBMED; 18809835 RefAuthors Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, RefAuthors M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo RefAuthors Giudice, M., Fichera, M. RefTitle CDKL5 mutations in boys with severe encephalopathy and RefTitle early-onset intractable epilepsy. RefLoc Neurology 71:997-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 173917 Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1112 Feature /codon: aca -> ata; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 288 Feature /change: T -> I Feature /domain: PK Diagnosis Epileptic Encephalopathy-2 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_R178P(1); standard; MUTATION; PK Accession K01289 Systematic name g.159750G>C, c.533G>C, r.533g>c, p.Arg178Pro Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [22] RefCrossRef PUBMED; 18809835 RefAuthors Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, RefAuthors M., Calabrese, G., Carotenuto, M., Musumeci, S. A., Lo RefAuthors Giudice, M., Fichera, M. RefTitle CDKL5 mutations in boys with severe encephalopathy and RefTitle early-onset intractable epilepsy. RefLoc Neurology 71:997-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 159750 Feature /change: g -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 782 Feature /codon: cgg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 178 Feature /change: R -> P Feature /domain: PK Diagnosis Epileptic Encephalopathy-2 Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_Q118X(1); standard; MUTATION; PK Accession K01290 Systematic name g.155335C>T, c.352C>T, r.352c>u, p.Gln118X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [24] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 155335 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 601 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 118 Feature /change: Q -> X Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_L142X(1); standard; MUTATION; PK Accession K01291 Systematic name g.157330T>A, c.425T>A, r.425u>a, p.Leu142X Description A point mutation in the exon 8 leading to a premature stop Description codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [24] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 157330 Feature /change: t -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 674 Feature /codon: tta -> taa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 142 Feature /change: L -> X Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_#E77X111(1); standard; MUTATION; PK Accession K01292 Systematic name g.150855delG, c.229delG, r.229delg, p.Glu77fsX35 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [24] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 150855 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 478 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 77 Feature /change: E -> KHFVGGESCT WCLSMLKKIC SNCWKKCQME FHLRKX Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_#N267X271(1); standard; MUTATION; PK Accession K01293 Systematic name g.170821delA, c.800delA, r.800dela, p.Asn267fsX6 Description A frame shift deletion mutation in the exon 11 leading to a Description premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [24] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 170821 Feature /change: -a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1049 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 267 Feature /change: N -> IVFYLTX Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_@E289X325(1); standard; MUTATION; PK Accession K01294 Systematic name g.173918dupA, c.864dupA, r.864dupa, p.Glu289fsX36 Description A frame shift duplication mutation in the exon 12 leading Description to a premature stop codon in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [24] RefCrossRef PUBMED; 18790821 RefAuthors Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., RefAuthors Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, RefAuthors A., Rio, M., Heron, D., N'guyen Morel, M. A., RefAuthors Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., RefAuthors Bienvenu, T. RefTitle Key clinical features to identify girls with CDKL5 RefTitle mutations. RefLoc Brain 131:2647-61 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 173919 Feature /change: +a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 1114 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: CDKL5_HUMAN: 289 Feature /change: E -> RTVFESPYIS NPETSGSFSF KVSKKKTLPC GKQHIVX Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID CDKL5_H127R(1); standard; MUTATION; PK Accession K01295 Systematic name g.155363A>G, c.380A>G, r.380a>g, p.His127Arg Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [25] RefCrossRef PUBMED; 19241098 RefAuthors Russo, S., Marchi, M., Cogliati, F., Bonati, M. T., RefAuthors Pintaudi, M., Veneselli, E., Saletti, V., Balestrini, M., RefAuthors Ben-Zeev, B., Larizza, L. RefTitle Novel mutations in the CDKL5 gene, predicted effects and RefTitle associated phenotypes. RefLoc Neurogenetics 10:241-50 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:18442703:18672749:1: 155363 Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001037343.1; GI:83367069; NM_001037343.1: 629 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CDKL5_HUMAN: 127 Feature /change: H -> R Feature /domain: PK Diagnosis Rett syndrome (RTT) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_V600E(1); standard; MUTATION; PK Accession K01296 Systematic name g.172429T>A, c.1799T>A, r.1799u>a, p.Val600Glu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 4) RefNumber [26] RefCrossRef PUBMED; 21326296 RefAuthors Qi, R. Q., He, L., Zheng, S., Hong, Y., Ma, L., Zhang, S., RefAuthors Zhao, L., Guo, X., Wang, Y., Yu, J. Y., Fu, L., Zhang, W., RefAuthors Long, T., Zhang, C., Chen, G., Lin, J., Wang, C., Zhou, RefAuthors L., Mi, Q., Weiland, M., Chen, J. Z., McHenga, S. S., RefAuthors Wang, Y. K., McHepange, U., Wang, Z., Chen, H. D., Gao, X. RefAuthors H. RefTitle BRAF exon 15 T1799A mutation is common in melanocytic RefTitle nevi, but less prevalent in cutaneous malignant melanoma, RefTitle in Chinese Han. RefLoc J Invest Dermatol 131:1129-38 RefNumber [28] RefCrossRef PUBMED; 21663470 RefAuthors Tiacci, E., Trifonov, V., Schiavoni, G., Holmes, A., Kern, RefAuthors W., Martelli, M. P., Pucciarini, A., Bigerna, B., Pacini, RefAuthors R., Wells, V. A., Sportoletti, P., Pettirossi, V., RefAuthors Mannucci, R., Elliott, O., Liso, A., Ambrosetti, A., RefAuthors Pulsoni, A., Forconi, F., Trentin, L., Semenzato, G., RefAuthors Inghirami, G., Capponi, M., Di Raimondo, F., Patti, C., RefAuthors Arcaini, L., Musto, P., Pileri, S., Haferlach, C., RefAuthors Schnittger, S., Pizzolo, G., Foa, R., Farinelli, L., RefAuthors Haferlach, T., Pasqualucci, L., Rabadan, R., Falini, B. RefTitle BRAF mutations in hairy-cell leukemia. RefLoc N Engl J Med 364:2305-15 RefNumber [30] RefCrossRef PUBMED; 20496269 RefAuthors Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., RefAuthors Tomaszewska, R. RefTitle BRAF mutations in sporadic colorectal carcinoma from RefTitle polish patients. RefLoc Pol J Pathol 61:23-6 RefNumber [34] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429 Feature /change: t -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860 Feature /codon: gtg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 600 Feature /change: V -> E Feature /domain: PK Diagnosis Malignant melanoma Diagnosis Colorectal cancer Diagnosis Thyroid carcinoma Occurrence Families: 50; Patients: 50; Homozygotes: 0 Comment -!-Hairy cell Leukemia // ID BRAF_K601N(1); standard; MUTATION; PK Accession K01297 Systematic name g.172433A>T, c.1803A>T, r.1803a>u, p.Lys601Asn Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 20496269 RefAuthors Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., RefAuthors Tomaszewska, R. RefTitle BRAF mutations in sporadic colorectal carcinoma from RefTitle polish patients. RefLoc Pol J Pathol 61:23-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172433 Feature /change: a -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1864 Feature /codon: aaa -> aat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 601 Feature /change: K -> N Feature /domain: PK Diagnosis Colorectal cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_G596R(1); standard; MUTATION; PK Accession K01298 Systematic name g.172416G>C, c.1786G>C, r.1786g>c, p.Gly596Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 20496269 RefAuthors Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., RefAuthors Tomaszewska, R. RefTitle BRAF mutations in sporadic colorectal carcinoma from RefTitle polish patients. RefLoc Pol J Pathol 61:23-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172416 Feature /change: g -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1847 Feature /codon: ggt -> cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 596 Feature /change: G -> R Feature /domain: PK Diagnosis Colorectal cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_D594G(1); standard; MUTATION; PK Accession K01299 Systematic name g.172411A>G, c.1781A>G, r.1781a>g, p.Asp594Gly Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 20496269 RefAuthors Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., RefAuthors Tomaszewska, R. RefTitle BRAF mutations in sporadic colorectal carcinoma from RefTitle polish patients. RefLoc Pol J Pathol 61:23-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172411 Feature /change: a -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1842 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 594 Feature /change: D -> G Feature /domain: PK Diagnosis Colorectal cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_G469A(1); standard; MUTATION; PK Accession K01300 Systematic name g.144163G>C, c.1406G>C, r.1406g>c, p.Gly469Ala Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [28] RefCrossRef PUBMED; 20496269 RefAuthors Wojcik, P., Okon, K., Osuch, C., Klimkowska, A., RefAuthors Tomaszewska, R. RefTitle BRAF mutations in sporadic colorectal carcinoma from RefTitle polish patients. RefLoc Pol J Pathol 61:23-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144163 Feature /change: g -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1467 Feature /codon: gga -> gca; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 469 Feature /change: G -> A Feature /domain: PK Diagnosis Colorectal cancer Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_F468S(1); standard; MUTATION; PK Accession K01301 Systematic name g.144160T>C, c.1403T>C, r.1403u>c, p.Phe468Ser Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [29] RefCrossRef PUBMED; 20859831 RefAuthors Demir, E., Mancano, G., Pomponi, M. G., Ozcelik, A., RefAuthors Gucuyener, K., Neri, G. RefTitle Cardio-facio-cutaneous syndrome: phenotypic variability RefTitle and differential diagnosis in 3 cases with de novo BRAF RefTitle mutations. RefLoc Neuropediatrics 41:127-31 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144160 Feature /change: t -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1464 Feature /codon: ttt -> tct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 468 Feature /change: F -> S Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_E501K(1); standard; MUTATION; PK Accession K01302 Systematic name g.147758G>A, c.1501G>A, r.1501g>a, p.Glu501Lys Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [29] RefCrossRef PUBMED; 20859831 RefAuthors Demir, E., Mancano, G., Pomponi, M. G., Ozcelik, A., RefAuthors Gucuyener, K., Neri, G. RefTitle Cardio-facio-cutaneous syndrome: phenotypic variability RefTitle and differential diagnosis in 3 cases with de novo BRAF RefTitle mutations. RefLoc Neuropediatrics 41:127-31 RefNumber [3] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147758 Feature /change: g -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1562 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 501 Feature /change: E -> K Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BRAF_D638E(1); standard; MUTATION; PK Accession K01303 Systematic name g.176400T>A, c.1914T>A, r.1914u>a, p.Asp638Glu Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [29] RefCrossRef PUBMED; 20859831 RefAuthors Demir, E., Mancano, G., Pomponi, M. G., Ozcelik, A., RefAuthors Gucuyener, K., Neri, G. RefTitle Cardio-facio-cutaneous syndrome: phenotypic variability RefTitle and differential diagnosis in 3 cases with de novo BRAF RefTitle mutations. RefLoc Neuropediatrics 41:127-31 RefNumber [3] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 176400 Feature /change: t -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1975 Feature /codon: gat -> gaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 638 Feature /change: D -> E Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BRAF_V600L(1); standard; MUTATION; PK Accession K01304 Systematic name g.172428G>T, c.1798G>T, r.1798g>u, p.Val600Leu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [30] RefCrossRef PUBMED; 19404918 RefAuthors Boulalas, I., Zaravinos, A., Delakas, D., Spandidos, D. A. RefTitle Mutational analysis of the BRAF gene in transitional cell RefTitle carcinoma of the bladder. RefLoc Int J Biol Markers 24:17-21 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172428 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1859 Feature /codon: gtg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 600 Feature /change: V -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Cell carcinoma of the bladder // ID MAP2K1_P124L(1); standard; MUTATION; PK Accession K01305 Systematic name g.51009C>T, c.371C>T, r.371c>u, p.Pro124Leu Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [32] RefCrossRef PUBMED; 18632602 RefAuthors Marks, J. L., Gong, Y., Chitale, D., Golas, B., McLellan, RefAuthors M. D., Kasai, Y., Ding, L., Mardis, E. R., Wilson, R. K., RefAuthors Solit, D., Levine, R., Michel, K., Thomas, R. K., Rusch, RefAuthors V. W., Ladanyi, M., Pao, W. RefTitle Novel MEK1 mutation identified by mutational analysis of RefTitle epidermal growth factor receptor signaling pathway genes RefTitle in lung adenocarcinoma. RefLoc Cancer Res 68:5524-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:15:66678155:66784882:1: 51009 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_002755.3; GI:5579478; NM_002755.3: 846 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MP2K1_HUMAN: 124 Feature /change: P -> L Feature /domain: PK Diagnosis Cardiofaciocutaneous Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MAP2K1_G128V(1); standard; MUTATION; PK Accession K01306 Systematic name g.51021G>T, c.383G>T, r.383g>u, p.Gly128Val Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [32] RefCrossRef PUBMED; 18632602 RefAuthors Marks, J. L., Gong, Y., Chitale, D., Golas, B., McLellan, RefAuthors M. D., Kasai, Y., Ding, L., Mardis, E. R., Wilson, R. K., RefAuthors Solit, D., Levine, R., Michel, K., Thomas, R. K., Rusch, RefAuthors V. W., Ladanyi, M., Pao, W. RefTitle Novel MEK1 mutation identified by mutational analysis of RefTitle epidermal growth factor receptor signaling pathway genes RefTitle in lung adenocarcinoma. RefLoc Cancer Res 68:5524-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:15:66678155:66784882:1: 51021 Feature /change: g -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_002755.3; GI:5579478; NM_002755.3: 858 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MP2K1_HUMAN: 128 Feature /change: G -> V Feature /domain: PK Diagnosis Cardiofaciocutaneous Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MAP2K1_Y130C(1); standard; MUTATION; PK Accession K01307 Systematic name g.51027A>G, c.389A>G, r.389a>g, p.Tyr130Cys Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [32] RefCrossRef PUBMED; 18632602 RefAuthors Marks, J. L., Gong, Y., Chitale, D., Golas, B., McLellan, RefAuthors M. D., Kasai, Y., Ding, L., Mardis, E. R., Wilson, R. K., RefAuthors Solit, D., Levine, R., Michel, K., Thomas, R. K., Rusch, RefAuthors V. W., Ladanyi, M., Pao, W. RefTitle Novel MEK1 mutation identified by mutational analysis of RefTitle epidermal growth factor receptor signaling pathway genes RefTitle in lung adenocarcinoma. RefLoc Cancer Res 68:5524-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:15:66678155:66784882:1: 51027 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_002755.3; GI:5579478; NM_002755.3: 864 Feature /codon: tat -> tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MP2K1_HUMAN: 130 Feature /change: Y -> C Feature /domain: PK Diagnosis Cardiofaciocutaneous Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID MAP2K2_P128Q(1); standard; MUTATION; PK Accession K01308 Systematic name g.14553C>A, c.383C>A, r.383c>a, p.Pro128Gln Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [33] RefCrossRef PUBMED; 20358587 RefAuthors Rauen, K. A., Tidyman, W. E., Estep, A. L., Sampath, S., RefAuthors Peltier, H. M., Bale, S. J., Lacassie, Y. RefTitle Molecular and functional analysis of a novel MEK2 mutation RefTitle in cardio-facio-cutaneous syndrome: transmission through RefTitle four generations. RefLoc Am J Med Genet A 152A:807-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:19:4089319:4125126:-1: 14553 Feature /change: c -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_030662.3; GI:13489054; NM_030662.3: 637 Feature /codon: ccg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: MP2K2_HUMAN: 128 Feature /change: P -> Q Feature /domain: PK Diagnosis Cardiofaciocutaneous syndrome (CFC syndrome) Occurrence Families: 1; Patients: 9; Homozygotes: 0 // ID BRAF_G464E(1); standard; MUTATION; PK Accession K01309 Systematic name g.144148G>A, c.1391G>A, r.1391g>a, p.Gly464Glu Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19190079 RefAuthors Kotoula, V., Sozopoulos, E., Litsiou, H., Fanourakis, G., RefAuthors Koletsa, T., Voutsinas, G., Tseleni-Balafouta, S., RefAuthors Mitsiades, C. S., Wellmann, A., Mitsiades, N. RefTitle Mutational analysis of the BRAF, RAS and EGFR genes in RefTitle human adrenocortical carcinomas. RefLoc Endocr Relat Cancer 16:565-72 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144148 Feature /change: g -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1452 Feature /codon: gga -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 464 Feature /change: G -> E Feature /domain: PK Diagnosis Adenocarcinoma of lung Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_E501G(1); standard; MUTATION; PK Accession K01310 Systematic name g.147759A>G, c.1502A>G, r.1502a>g, p.Glu501Gly Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17483702 RefAuthors Makita, Y., Narumi, Y., Yoshida, M., Niihori, T., Kure, RefAuthors S., Fujieda, K., Matsubara, Y., Aoki, Y. RefTitle Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a RefTitle patient with a germline mutation in BRAF proto-oncogene. RefLoc J Pediatr Hematol Oncol 29:287-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147759 Feature /change: a -> g Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1563 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 501 Feature /change: E -> G Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Leukemia in Cardio-facio-cutaneous(CFC)syndrome // ID BRAF_G469E(1); standard; MUTATION; PK Accession K01311 Systematic name g.144163G>A, c.1406G>A, r.1406g>a, p.Gly469Glu Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17483702 RefAuthors Makita, Y., Narumi, Y., Yoshida, M., Niihori, T., Kure, RefAuthors S., Fujieda, K., Matsubara, Y., Aoki, Y. RefTitle Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a RefTitle patient with a germline mutation in BRAF proto-oncogene. RefLoc J Pediatr Hematol Oncol 29:287-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 144163 Feature /change: g -> a Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1467 Feature /codon: gga -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 469 Feature /change: G -> E Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Leukemia in Cardio-facio-cutaneous(CFC)syndrome // ID BRAF_F595L(1); standard; MUTATION; PK Accession K01312 Systematic name g.172415T>G, c.1785T>G, r.1785u>g, p.Phe595Leu Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172415 Feature /change: t -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1846 Feature /codon: ttt -> ttg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 595 Feature /change: F -> L Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_L597V(1); standard; MUTATION; PK Accession K01313 Systematic name g.172419C>G, c.1789C>G, r.1789c>g, p.Leu597Val Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172419 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1850 Feature /codon: cta -> gta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 597 Feature /change: L -> V Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Diagnosis Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Noonan Syndrome // ID BRAF_T599R(1); standard; MUTATION; PK Accession K01314 Systematic name g.172426C>G, c.1796C>G, r.1796c>g, p.Thr599Arg Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172426 Feature /change: c -> g Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1857 Feature /codon: aca -> aga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 599 Feature /change: T -> R Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_K601Q(1); standard; MUTATION; PK Accession K01315 Systematic name g.172431A>C, c.1801A>C, r.1801a>c, p.Lys601Gln Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 29-Aug-2011 (Rel. 3, Created) Date 29-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172431 Feature /change: a -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1862 Feature /codon: aaa -> caa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 601 Feature /change: K -> Q Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_W531C(1); standard; MUTATION; PK Accession K01316 Systematic name g.148752G>C, c.1593G>C, r.1593g>c, p.Trp531Cys Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 148752 Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1654 Feature /codon: tgg -> tgc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 531 Feature /change: W -> C Feature /domain: PK Occurrence Families: 2; Patients: 2; Homozygotes: 0 Comment -!-Noonan Syndrome // ID BRAF_L485F(1); standard; MUTATION; PK Accession K01317 Systematic name g.147712G>C, c.1455G>C, r.1455g>c, p.Leu485Phe Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147712 Feature /change: g -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1516 Feature /codon: ttg -> ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 485 Feature /change: L -> F Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_K499N(1); standard; MUTATION; PK Accession K01318 Systematic name g.147754A>C, c.1497A>C, r.1497a>c, p.Lys499Asn Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 147754 Feature /change: a -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1558 Feature /codon: aaa -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 499 Feature /change: K -> N Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_L525P(1); standard; MUTATION; PK Accession K01319 Systematic name g.148733T>C, c.1574T>C, r.1574u>c, p.Leu525Pro Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 148733 Feature /change: t -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1635 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 525 Feature /change: L -> P Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_D638E(2); standard; MUTATION; PK Accession K01320 Systematic name g.176400T>G, c.1914T>G, r.1914u>g, p.Asp638Glu Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 176400 Feature /change: t -> g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1975 Feature /codon: gat -> gag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 638 Feature /change: D -> E Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_Q709R(1); standard; MUTATION; PK Accession K01321 Systematic name g.185952A>G, c.2126A>G, r.2126a>g, p.Gln709Arg Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 19206169 RefAuthors Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, RefAuthors M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., RefAuthors Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., RefAuthors Mancini, G. M., Selicorni, A., Rossi, C., Mazzanti, L., RefAuthors Marino, B., Ferrero, G. B., Silengo, M. C., Memo, L., RefAuthors Stanzial, F., Faravelli, F., Stuppia, L., Puxeddu, E., RefAuthors Gelb, B. D., Dallapiccola, B., Tartaglia, M. RefTitle Germline BRAF mutations in Noonan, LEOPARD, and RefTitle cardiofaciocutaneous syndromes: molecular diversity and RefTitle associated phenotypic spectrum. RefLoc Hum Mutat 30:695-702 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 185952 Feature /change: a -> g Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 2187 Feature /codon: caa -> cga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 709 Feature /change: Q -> R Feature /domain: PK Diagnosis Cardiofaciocutaneus Syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-The Patient exhibited severe neonatal feeding Comment -!-difficulties,typical facial dysmorphisms, ectodermal Comment -!-anomalies associated with normal growth and cognitive Comment -!-development. // ID BRAF_Q612X(1); standard; MUTATION; PK Accession K01322 Systematic name g.172464C>T, c.1834C>T, r.1834c>u, p.Gln612X Description A point mutation in the exon 15 leading to a premature stop Description codon in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172464 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1895 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BRAF_HUMAN: 612 Feature /change: Q -> X Feature /domain: PK Diagnosis Thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_A598V(1); standard; MUTATION; PK Accession K01323 Systematic name g.172423C>T, c.1793C>T, r.1793c>u, p.Ala598Val Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172423 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1854 Feature /codon: gct -> gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 598 Feature /change: A -> V Feature /domain: PK Diagnosis Thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_T599I(1); standard; MUTATION; PK Accession K01324 Systematic name g.172426C>T, c.1796C>T, r.1796c>u, p.Thr599Ile Description A point mutation in the exon 15 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172426 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1857 Feature /codon: aca -> ata; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BRAF_HUMAN: 599 Feature /change: T -> I Feature /domain: PK Diagnosis Thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_@V600+1(1); standard; MUTATION; PK Accession K01325 Systematic name g.172428_172429insC, c.1798_1799insC, r.1798_1799insc, Systematic name p.Val600fsX11 Description A frame shift insertion mutation in the exon 15 leading to Description a premature stop codon in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429 Feature /change: +c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BRAF_HUMAN: 600 Feature /change: V -> AEISMEWVPS VX Feature /domain: PK Diagnosis Thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_@V600X611(1); standard; MUTATION; PK Accession K01326 Systematic name g.172428_172429insA, c.1798_1799insA, r.1798_1799insa, Systematic name p.Val600fsX11 Description A frame shift insertion mutation in the exon 15 leading to Description a premature stop codon in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429 Feature /change: +a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BRAF_HUMAN: 600 Feature /change: V -> DEISMEWVPS VX Feature /domain: PK Diagnosis Thyroid carcinoma Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BRAF_#V600-1(1); standard; MUTATION; PK Accession K01327 Systematic name g.172429delT, c.1799delT, r.1799delu, p.Val600fsX49 Description A frame shift deletion mutation in the exon 15 leading to a Description premature stop codon in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19370421 RefAuthors Chiosea, S., Nikiforova, M., Zuo, H., Ogilvie, J., Gandhi, RefAuthors M., Seethala, R. R., Ohori, N. P., Nikiforov, Y. RefTitle A novel complex BRAF mutation detected in a solid variant RefTitle of papillary thyroid carcinoma. RefLoc Endocr Pathol 20:122-6 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:7:140423943:140625564:-1: 172429 Feature /change: -t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004333.4; GI:33188459; NM_004333.4: 1860 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: BRAF_HUMAN: 600 Feature /change: V -> Feature /change: GNLDGVGPIS LNSCLDPFCG WHQKSSECKI KIHTAFSQMY Feature /change: MHLELFCMNX Feature /domain: PK Diagnosis Thyroid carcinoma Occurrence Families: 5; Patients: 5; Homozygotes: 0 // ID ACVR1_H286D(1); standard; MUTATION; PK Accession K01328 Systematic name g.110732C>G, c.856C>G, r.856c>g, p.His286Asp Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 21248739 RefAuthors Joziasse, I. C., Smith, K. A., Chocron, S., van Dinther, RefAuthors M., Guryev, V., van de Smagt, J. J., Cuppen, E., Ten RefAuthors Dijke, P., Mulder, B. J., Maslen, C. L., Reshey, B., RefAuthors Doevendans, P. A., Bakkers, J. RefTitle ALK2 mutation in a patient with Down's syndrome and a RefTitle congenital heart defect. RefLoc Eur J Hum Genet 19:389-93 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110732 Feature /change: c -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1286 Feature /codon: cat -> gat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 286 Feature /change: H -> D Feature /domain: PK Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-The father of the proband carries the ALK2 p.His286Asp and Comment -!-BMPR1A p.Glu414Lys mutation Comment -!- Down's syndrome and Congenital heart defect // ID ACVR1_G356D(1); standard; MUTATION; PK Accession K01329 Systematic name g.115786G>A, c.1067G>A, r.1067g>a, p.Gly356Asp Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 19085907 RefAuthors Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, RefAuthors D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., RefAuthors Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., RefAuthors Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., RefAuthors Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, RefAuthors E. M. RefTitle Classic and atypical fibrodysplasia ossificans RefTitle progressiva (FOP) phenotypes are caused by mutations in RefTitle the bone morphogenetic protein (BMP) type I receptor RefTitle ACVR1. RefLoc Hum Mutat 30:379-90 RefNumber [6] RefCrossRef PUBMED; 20736820 RefAuthors Guo, H., Peng, D., Xu, M., Xue, J., Lu, L., Xu, X., Liu, RefAuthors Y., Xiong, Z., Pan, Q., Hu, Z., Xia, K. RefTitle Report of two FOP cases with 617G>A mutation in the ACVR1 RefTitle gene from Chinese population. RefLoc Clin Dysmorphol 19:206-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 115786 Feature /change: g -> a Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1497 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 356 Feature /change: G -> D Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID ACVR1_G328R(1); standard; MUTATION; PK Accession K01330 Systematic name g.110858G>A, c.982G>A, r.982g>a, p.Gly328Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 19085907 RefAuthors Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, RefAuthors D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., RefAuthors Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., RefAuthors Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., RefAuthors Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, RefAuthors E. M. RefTitle Classic and atypical fibrodysplasia ossificans RefTitle progressiva (FOP) phenotypes are caused by mutations in RefTitle the bone morphogenetic protein (BMP) type I receptor RefTitle ACVR1. RefLoc Hum Mutat 30:379-90 RefNumber [6] RefCrossRef PUBMED; 20736820 RefAuthors Guo, H., Peng, D., Xu, M., Xue, J., Lu, L., Xu, X., Liu, RefAuthors Y., Xiong, Z., Pan, Q., Hu, Z., Xia, K. RefTitle Report of two FOP cases with 617G>A mutation in the ACVR1 RefTitle gene from Chinese population. RefLoc Clin Dysmorphol 19:206-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110858 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1412 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 328 Feature /change: G -> R Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID ACVR1_G328R(2); standard; MUTATION; PK Accession K01331 Systematic name g.110858G>C, c.982G>C, r.982g>c, p.Gly328Arg Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 19085907 RefAuthors Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, RefAuthors D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., RefAuthors Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., RefAuthors Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., RefAuthors Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, RefAuthors E. M. RefTitle Classic and atypical fibrodysplasia ossificans RefTitle progressiva (FOP) phenotypes are caused by mutations in RefTitle the bone morphogenetic protein (BMP) type I receptor RefTitle ACVR1. RefLoc Hum Mutat 30:379-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110858 Feature /change: g -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1412 Feature /codon: ggg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 328 Feature /change: G -> R Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVR1_G328W(1); standard; MUTATION; PK Accession K01332 Systematic name g.110858G>T, c.982G>T, r.982g>u, p.Gly328Trp Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [7] RefCrossRef PUBMED; 19085907 RefAuthors Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, RefAuthors D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., RefAuthors Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., RefAuthors Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., RefAuthors Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, RefAuthors E. M. RefTitle Classic and atypical fibrodysplasia ossificans RefTitle progressiva (FOP) phenotypes are caused by mutations in RefTitle the bone morphogenetic protein (BMP) type I receptor RefTitle ACVR1. RefLoc Hum Mutat 30:379-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110858 Feature /change: g -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1412 Feature /codon: ggg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 328 Feature /change: G -> W Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID ACVR1_G328E(1); standard; MUTATION; PK Accession K01333 Systematic name g.110859G>A, c.983G>A, r.983g>a, p.Gly328Glu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [7] RefCrossRef PUBMED; 19085907 RefAuthors Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, RefAuthors D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., RefAuthors Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., RefAuthors Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., RefAuthors Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, RefAuthors E. M. RefTitle Classic and atypical fibrodysplasia ossificans RefTitle progressiva (FOP) phenotypes are caused by mutations in RefTitle the bone morphogenetic protein (BMP) type I receptor RefTitle ACVR1. RefLoc Hum Mutat 30:379-90 RefNumber [10] RefCrossRef PUBMED; 19796185 RefAuthors Carvalho, D. R., Navarro, M. M., Martins, B. J., Coelho, RefAuthors K. E., Mello, W. D., Takata, R. I., Speck-Martins, C. E. RefTitle Mutational screening of ACVR1 gene in Brazilian RefTitle fibrodysplasia ossificans progressiva patients. RefLoc Clin Genet 77:171-6 RefNumber [12] RefCrossRef PUBMED; 19330033 RefAuthors Petrie, K. A., Lee, W. H., Bullock, A. N., Pointon, J. J., RefAuthors Smith, R., Russell, R. G., Brown, M. A., Wordsworth, B. RefAuthors P., Triffitt, J. T. RefTitle Novel mutations in ACVR1 result in atypical features in RefTitle two fibrodysplasia ossificans progressiva patients. RefLoc PLoS One 4:e5005 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 110859 Feature /change: g -> a Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1413 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 328 Feature /change: G -> E Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 4; Patients: 6; Homozygotes: 0 // ID ACVR1_R375P(1); standard; MUTATION; PK Accession K01334 Systematic name g.115843G>C, c.1124G>C, r.1124g>c, p.Arg375Pro Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [7] RefCrossRef PUBMED; 19085907 RefAuthors Kaplan, F. S., Xu, M., Seemann, P., Connor, J. M., Glaser, RefAuthors D. L., Carroll, L., Delai, P., Fastnacht-Urban, E., RefAuthors Forman, S. J., Gillessen-Kaesbach, G., Hoover-Fong, J., RefAuthors Koster, B., Pauli, R. M., Reardon, W., Zaidi, S. A., RefAuthors Zasloff, M., Morhart, R., Mundlos, S., Groppe, J., Shore, RefAuthors E. M. RefTitle Classic and atypical fibrodysplasia ossificans RefTitle progressiva (FOP) phenotypes are caused by mutations in RefTitle the bone morphogenetic protein (BMP) type I receptor RefTitle ACVR1. RefLoc Hum Mutat 30:379-90 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 115843 Feature /change: g -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1554 Feature /codon: cgt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 375 Feature /change: R -> P Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVR1_R258S(1); standard; MUTATION; PK Accession K01335 Systematic name g.106479G>T, c.774G>T, r.774g>u, p.Arg258Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 19795179 RefAuthors Ratbi, I., Borcciadi, R., Regragui, A., Ravazzolo, R., RefAuthors Sefiani, A. RefTitle Rarely occurring mutation of ACVR1 gene in Moroccan RefTitle patient with fibrodysplasia ossificans progressiva. RefLoc Clin Rheumatol 29:119-21 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 106479 Feature /change: g -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1204 Feature /codon: agg -> agt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 258 Feature /change: R -> S Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVR1_R258S(2); standard; MUTATION; PK Accession K01336 Systematic name g.106479G>C, c.774G>C, r.774g>c, p.Arg258Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [11] RefCrossRef PUBMED; 18830232 RefAuthors Bocciardi, R., Bordo, D., Di Duca, M., Di Rocco, M., RefAuthors Ravazzolo, R. RefTitle Mutational analysis of the ACVR1 gene in Italian patients RefTitle affected with fibrodysplasia ossificans progressiva: RefTitle confirmations and advancements. RefLoc Eur J Hum Genet 17:311-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:158591958:158733374:-1: 106479 Feature /change: g -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001105.4; GI:4501895; NM_001105.4: 1204 Feature /codon: agg -> agc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ACVR1_HUMAN: 258 Feature /change: R -> S Feature /domain: PK Diagnosis FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID BMPR1A_E415K(1); standard; MUTATION; PK Accession K01337 Systematic name g.165949G>A, c.1243G>A, r.1243g>a, p.Glu415Lys Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 21248739 RefAuthors Joziasse, I. C., Smith, K. A., Chocron, S., van Dinther, RefAuthors M., Guryev, V., van de Smagt, J. J., Cuppen, E., Ten RefAuthors Dijke, P., Mulder, B. J., Maslen, C. L., Reshey, B., RefAuthors Doevendans, P. A., Bakkers, J. RefTitle ALK2 mutation in a patient with Down's syndrome and a RefTitle congenital heart defect. RefLoc Eur J Hum Genet 19:389-93 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: IDRefSeq: BMPR1A_DNA: 165949 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: Z22535; GI:547778; HSALK3A: 1552 Feature /codon: gaa -> aaa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BMRA_HUMAN: 415 Feature /change: E -> K Feature /domain: PK Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-Down's syndrome and congenital heart defect Comment -!- Both these two patients also carried other mutations. // ID TGFBR1_R487W(1); standard; MUTATION; PK Accession K01338 Systematic name g.45123C>T, c.1459C>T, r.1459c>u, p.Arg487Trp Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 19542084 RefAuthors Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., RefAuthors Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, RefAuthors S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, RefAuthors J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. RefAuthors M. RefTitle Analysis of multigenerational families with thoracic RefTitle aortic aneurysms and dissections due to TGFBR1 or TGFBR2 RefTitle mutations. RefLoc J Med Genet 46:607-13 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 45123 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1535 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 487 Feature /change: R -> W Feature /domain: PK Diagnosis THORACIC AORTIC ANEURYSMS Occurrence Families: 1; Patients: 15; Homozygotes: 0 // ID TGFBR1_L486S(1); standard; MUTATION; PK Accession K01339 Systematic name g.45121T>C, c.1457T>C, r.1457u>c, p.Leu486Ser Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 19542084 RefAuthors Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., RefAuthors Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, RefAuthors S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, RefAuthors J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. RefAuthors M. RefTitle Analysis of multigenerational families with thoracic RefTitle aortic aneurysms and dissections due to TGFBR1 or TGFBR2 RefTitle mutations. RefLoc J Med Genet 46:607-13 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 45121 Feature /change: t -> c Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1533 Feature /codon: ttg -> tcg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 486 Feature /change: L -> S Feature /domain: PK Diagnosis THORACIC AORTIC ANEURYSMS Occurrence Families: 1; Patients: 9; Homozygotes: 0 // ID TGFBR1_H315R(1); standard; MUTATION; PK Accession K01340 Systematic name g.38545A>G, c.944A>G, r.944a>g, p.His315Arg Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 30-Aug-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 19542084 RefAuthors Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., RefAuthors Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, RefAuthors S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, RefAuthors J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. RefAuthors M. RefTitle Analysis of multigenerational families with thoracic RefTitle aortic aneurysms and dissections due to TGFBR1 or TGFBR2 RefTitle mutations. RefLoc J Med Genet 46:607-13 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 38545 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1020 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 315 Feature /change: H -> R Feature /domain: PK Diagnosis THORACIC AORTIC ANEURYSMS Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID TGFBR1_G312S(1); standard; MUTATION; PK Accession K01341 Systematic name g.38535G>A, c.934G>A, r.934g>a, p.Gly312Ser Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 30-Aug-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 19542084 RefAuthors Tran-Fadulu, V., Pannu, H., Kim, D. H., Vick, G. W., RefAuthors Lonsford, C. M., Lafont, A. L., Boccalandro, C., Smart, RefAuthors S., Peterson, K. L., Hain, J. Z., Willing, M. C., Coselli, RefAuthors J. S., LeMaire, S. A., Ahn, C., Byers, P. H., Milewicz, D. RefAuthors M. RefTitle Analysis of multigenerational families with thoracic RefTitle aortic aneurysms and dissections due to TGFBR1 or TGFBR2 RefTitle mutations. RefLoc J Med Genet 46:607-13 RefNumber [2] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 38535 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1010 Feature /codon: ggt -> agt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 312 Feature /change: G -> S Feature /domain: PK Diagnosis THORACIC AORTIC ANEURYSMS Diagnosis Marfan syndrome Occurrence Families: 2; Patients: 4; Homozygotes: 0 Comment -!-Loeys-Dietz syndrome // ID TGFBR1_S241L(1); standard; MUTATION; PK Accession K01342 Systematic name g.33877C>T, c.722C>T, r.722c>u, p.Ser241Leu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33877 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 798 Feature /codon: tcg -> ttg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 241 Feature /change: S -> L Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Marfan Syndrome // ID CASK_Y268H(1); standard; MUTATION; PK Accession K01343 Systematic name g.263996T>C, c.802T>C, r.802u>c, p.Tyr268His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19847910 RefAuthors Hsueh, Y. P. RefTitle Calcium/calmodulin-dependent serine protein kinase and RefTitle mental retardation. RefLoc Ann Neurol 66:438-43 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:41373187:41783716:-1: 263996 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001126054.2; GI:186700627; NM_001126054.2: 848 Feature /codon: tat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CSKP_HUMAN: 268 Feature /change: Y -> H Feature /domain: PK Diagnosis mental retardation,X-linked Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-It should be T>C change in nucleotide position 802 // ID CASK_R28L(1); standard; MUTATION; PK Accession K01344 Systematic name g.71260G>T, c.83G>T, r.83g>u, p.Arg28Leu Description A point mutation in the exon 1 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 3) RefNumber [1] RefCrossRef PUBMED; 19847910 RefAuthors Hsueh, Y. P. RefTitle Calcium/calmodulin-dependent serine protein kinase and RefTitle mental retardation. RefLoc Ann Neurol 66:438-43 RefNumber [3] RefCrossRef PUBMED; 19200522 RefAuthors Piluso, G., D'Amico, F., Saccone, V., Bismuto, E., RefAuthors Rotundo, I. L., Di Domenico, M., Aurino, S., Schwartz, C. RefAuthors E., Neri, G., Nigro, V. RefTitle A missense mutation in CASK causes FG syndrome in an RefTitle Italian family. RefLoc Am J Hum Genet 84:162-77 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:41373187:41783716:-1: 71260 Feature /change: g -> t Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001126054.2; GI:186700627; NM_001126054.2: 129 Feature /codon: cga -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: CSKP_HUMAN: 28 Feature /change: R -> L Feature /domain: PK Diagnosis mental retardation,X-linked Occurrence Families: 6; Patients: 6; Homozygotes: 0 Comment -!-Mutation found patients with FGS4 // ID TGFBR1_M253I(1); standard; MUTATION; PK Accession K01345 Systematic name g.33914G>A, c.759G>A, r.759g>a, p.Met253Ile Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [1] RefCrossRef PUBMED; 16799921 RefAuthors Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, RefAuthors A., Schmidtke, J., Arslan-Kirchner, M. RefTitle TGFBR1 and TGFBR2 mutations in patients with features of RefTitle Marfan syndrome and Loeys-Dietz syndrome. RefLoc Hum Mutat 27:770-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33914 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 835 Feature /codon: atg -> ata; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 253 Feature /change: M -> I Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 5; Homozygotes: 0 Comment -!-Loeys-Dietz syndrome // ID TGFBR1_N267H(1); standard; MUTATION; PK Accession K01346 Systematic name g.33954A>C, c.799A>C, r.799a>c, p.Asn267His Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33954 Feature /change: a -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 875 Feature /codon: aat -> cat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 267 Feature /change: N -> H Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR1_R487Q(1); standard; MUTATION; PK Accession K01347 Systematic name g.45124G>A, c.1460G>A, r.1460g>a, p.Arg487Gln Description A point mutation in the exon 9 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 16791849 RefAuthors Matyas, G., Arnold, E., Carrel, T., Baumgartner, D., RefAuthors Boileau, C., Berger, W., Steinmann, B. RefTitle Identification and in silico analyses of novel TGFBR1 and RefTitle TGFBR2 mutations in Marfan syndrome-related disorders. RefLoc Hum Mutat 27:760-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 45124 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 9 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1536 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 487 Feature /change: R -> Q Feature /domain: PK Diagnosis Marfan syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID TGFBR1_W242X(1); standard; MUTATION; PK Accession K01348 Systematic name g.33880G>A, c.725G>A, r.725g>a, p.Trp242X Description A point mutation in the exon 4 leading to a premature stop Description codon in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 21358634 RefAuthors Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., RefAuthors Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., RefAuthors Coats, S. E., Stewart, A., Christie, L., Pichert, G., RefAuthors Friedel, J., Hayes, I., Burrows, N., Whittaker, S., RefAuthors Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., RefAuthors Verma, C., Lunny, D. P., Reversade, B., Lane, E. B. RefTitle Multiple self-healing squamous epithelioma is caused by a RefTitle disease-specific spectrum of mutations in TGFBR1. RefLoc Nat Genet 43:365-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 33880 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 801 Feature /codon: tgg -> tag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGFR1_HUMAN: 242 Feature /change: W -> X Feature /domain: PK Diagnosis Multiple self-healing squamous epithelioma Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID TGFBR1_#P327X334(1); standard; MUTATION; PK Accession K01349 Systematic name g.40609delC, c.980delC, r.980delc, p.Pro327fsX7 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 21358634 RefAuthors Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., RefAuthors Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., RefAuthors Coats, S. E., Stewart, A., Christie, L., Pichert, G., RefAuthors Friedel, J., Hayes, I., Burrows, N., Whittaker, S., RefAuthors Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., RefAuthors Verma, C., Lunny, D. P., Reversade, B., Lane, E. B. RefTitle Multiple self-healing squamous epithelioma is caused by a RefTitle disease-specific spectrum of mutations in TGFBR1. RefLoc Nat Genet 43:365-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 40609 Feature /change: -c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1056 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGFR1_HUMAN: 327 Feature /change: P -> QPLLIEIX Feature /domain: PK Diagnosis Multiple self-healing squamous epithelioma Occurrence Families: 2; Patients: 3; Homozygotes: 0 // ID TGFBR1_@G353X357(1); standard; MUTATION; PK Accession K01350 Systematic name g.40688A>C, c.1059A>C, r.1059a>c, p.Gly353Gly Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 21358634 RefAuthors Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., RefAuthors Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., RefAuthors Coats, S. E., Stewart, A., Christie, L., Pichert, G., RefAuthors Friedel, J., Hayes, I., Burrows, N., Whittaker, S., RefAuthors Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., RefAuthors Verma, C., Lunny, D. P., Reversade, B., Lane, E. B. RefTitle Multiple self-healing squamous epithelioma is caused by a RefTitle disease-specific spectrum of mutations in TGFBR1. RefLoc Nat Genet 43:365-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 40688 Feature /change: a -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1135 Feature /codon: gga -> ggc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TGFR1_HUMAN: 353 Feature /change: G -> G Feature /domain: PK Diagnosis Multiple self-healing squamous epithelioma Occurrence Families: 1; Patients: 6; Homozygotes: 0 // ID TGFBR1_R414X(1); standard; MUTATION; PK Accession K01351 Systematic name g.42465C>T, c.1240C>T, r.1240c>u, p.Arg414X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 21358634 RefAuthors Goudie, D. R., D'Alessandro, M., Merriman, B., Lee, H., RefAuthors Szeverenyi, I., Avery, S., O'Connor, B. D., Nelson, S. F., RefAuthors Coats, S. E., Stewart, A., Christie, L., Pichert, G., RefAuthors Friedel, J., Hayes, I., Burrows, N., Whittaker, S., RefAuthors Gerdes, A. M., Broesby-Olsen, S., Ferguson-Smith, M. A., RefAuthors Verma, C., Lunny, D. P., Reversade, B., Lane, E. B. RefTitle Multiple self-healing squamous epithelioma is caused by a RefTitle disease-specific spectrum of mutations in TGFBR1. RefLoc Nat Genet 43:365-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:9:101866412:101917585:1: 42465 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: L11695.1; GI:195963412; L11695.1: 1316 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: TGFR1_HUMAN: 414 Feature /change: R -> X Feature /domain: PK Diagnosis Multiple self-healing squamous epithelioma Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID TSSK4_V227I(1); standard; MUTATION; PK Accession K01352 Systematic name g.2629G>A, c.679G>A, r.679g>a, p.Val227Ile Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18390560 RefAuthors Su, D., Zhang, W., Yang, Y., Deng, Y., Ma, Y., Song, H., RefAuthors Zhang, S. RefTitle Mutation screening and association study of the TSSK4 Gene RefTitle in Chinese infertile men with impaired spermatogenesis. RefLoc J Androl 29:374-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:14:24673962:24678454:1: 2629 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_174944.3; GI:42734401; NM_174944.3: 883 Feature /codon: gtc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TSSK4_HUMAN: 227 Feature /change: V -> I Feature /domain: PK Diagnosis Infertility Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Polymorphism // ID TSSK4_V255V(1); standard; MUTATION; PK Accession K01353 Systematic name g.2715C>A, c.765C>A, r.765c>a, p.Val255Val Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 01-Sep-2011 (Rel. 3, Created) Date 01-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18390560 RefAuthors Su, D., Zhang, W., Yang, Y., Deng, Y., Ma, Y., Song, H., RefAuthors Zhang, S. RefTitle Mutation screening and association study of the TSSK4 Gene RefTitle in Chinese infertile men with impaired spermatogenesis. RefLoc J Androl 29:374-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:14:24673962:24678454:1: 2715 Feature /change: c -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_174944.3; GI:42734401; NM_174944.3: 969 Feature /codon: gtc -> gta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: TSSK4_HUMAN: 255 Feature /change: V -> V Feature /domain: PK Diagnosis Infertility Occurrence Families: 5; Patients: 5; Homozygotes: 0 Comment -!-Silent Mutation // ID RPS6KA3_R300X(1); standard; MUTATION; PK1 Accession K01354 Systematic name g.91069C>T, c.898C>T, r.898c>u, p.Arg300X Description A point mutation in the exon 11 leading to a premature stop Description codon in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17717706 RefAuthors Marques Pereira, P., Heron, D., Hanauer, A. RefTitle The first large duplication of the RSK2 gene identified in RefTitle a Coffin-Lowry syndrome patient. RefLoc Hum Genet 122:541-3 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91069 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 898 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 300 Feature /change: R -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome (CLS) Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#G152-1(1); standard; MUTATION; PK1 Accession K01355 Systematic name g.73880delG, c.454delG, r.454delg, p.Gly152fsX11 Description A frame shift deletion mutation in the exon 6 leading to a Description premature stop codon in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17100996 RefAuthors Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, RefAuthors J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., RefAuthors Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G. RefTitle Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry RefTitle syndrome and nonsyndromic X-linked mental retardation. RefLoc Clin Genet 70:509-15 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 73880 Feature /change: -g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 454 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 152 Feature /change: G -> EEICLHAYPK RX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome (CLS) Occurrence Families: 1; Patients: 8; Homozygotes: 0 // ID RPS6KA3_#D202-1(1); standard; MUTATION; PK1 Accession K01356 Systematic name g.79579delT, c.606delT, r.606delu, p.Asp202fsX7 Description A frame shift deletion mutation in the exon 8 leading to a Description premature stop codon in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17100996 RefAuthors Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, RefAuthors J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., RefAuthors Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G. RefTitle Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry RefTitle syndrome and nonsyndromic X-linked mental retardation. RefLoc Clin Genet 70:509-15 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 79579 Feature /change: -t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 606 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 202 Feature /change: D -> EKKVTSSX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome (CLS) Occurrence Families: 1; Patients: 5; Homozygotes: 0 // ID RPS6KA3_T115S(1); standard; MUTATION; PK1 Accession K01357 Systematic name g.72973A>T, c.343A>T, r.343a>u, p.Thr115Ser Description A point mutation in the exon 5 leading to an amino acid Description change in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 17100996 RefAuthors Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, RefAuthors J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., RefAuthors Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G. RefTitle Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry RefTitle syndrome and nonsyndromic X-linked mental retardation. RefLoc Clin Genet 70:509-15 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 72973 Feature /change: a -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 343 Feature /codon: aca -> tca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 115 Feature /change: T -> S Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome (CLS) Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID RPS6KA3_@K100X(1); standard; MUTATION; PK1 Accession K01358 Systematic name g.64051_64052insT, c.297_298insT, r.297_298insu, p.Lys100X Description An insertion mutation in the exon 4 leading to a premature Description stop codon in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 16691578 RefAuthors Wang, Y., Martinez, J. E., Wilson, G. L., He, X. Y., Tuck- RefAuthors Muller, C. M., Maertens, P., Wertelecki, W., Chen, T. J. RefTitle A novel RSK2 (RPS6KA3) gene mutation associated with RefTitle abnormal brain MRI findings in a family with Coffin-Lowry RefTitle syndrome. RefLoc Am J Med Genet A 140:1274-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64052 Feature /change: +t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 298 Feature /codon: aag -> taa; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 100 Feature /change: K -> X Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome (CLS) Occurrence Families: 1; Patients: 4; Homozygotes: 0 // ID RPS6KA3dom2_H537R(1); standard; MUTATION; PK2 Accession K01359 Systematic name g.103048A>G, c.1610A>G, r.1610a>g, p.His537Arg Description A point mutation in the exon 18 leading to an amino acid Description change in the PK2 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 20637903 RefAuthors Jurkiewicz, D., Jezela-Stanek, A., Ciara, E., Piekutowska- RefAuthors Abramczuk, D., Kugaudo, M., Gajdulewicz, M., Chrzanowska, RefAuthors K., Popowska, E., Krajewska-Walasek, M. RefTitle Four novel RSK2 mutations in females with Coffin-Lowry RefTitle syndrome. RefLoc Eur J Med Genet 53:268-73 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 103048 Feature /change: a -> g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 1610 Feature /codon: cat -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: KS6A3_HUMAN: 537 Feature /change: H -> R Feature /domain: PK2 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_#L299X311(1); standard; MUTATION; PK1 Accession K01360 Systematic name g.91067delT, c.896delT, r.896delu, p.Leu299fsX12 Description A frame shift deletion mutation in the exon 11 leading to a Description premature stop codon in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 20637903 RefAuthors Jurkiewicz, D., Jezela-Stanek, A., Ciara, E., Piekutowska- RefAuthors Abramczuk, D., Kugaudo, M., Gajdulewicz, M., Chrzanowska, RefAuthors K., Popowska, E., Krajewska-Walasek, M. RefTitle Four novel RSK2 mutations in females with Coffin-Lowry RefTitle syndrome. RefLoc Eur J Med Genet 53:268-73 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 91067 Feature /change: -t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 896 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 299 Feature /change: L -> YECFSSEILQ TDX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID RPS6KA3_@I88X92(1); standard; MUTATION; PK1 Accession K01361 Systematic name g.64016dupA, c.262dupA, r.262dupa, p.Ile88fsX4 Description A frame shift duplication mutation in the exon 4 leading to Description a premature stop codon in the PK1 domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 20637903 RefAuthors Jurkiewicz, D., Jezela-Stanek, A., Ciara, E., Piekutowska- RefAuthors Abramczuk, D., Kugaudo, M., Gajdulewicz, M., Chrzanowska, RefAuthors K., Popowska, E., Krajewska-Walasek, M. RefTitle Four novel RSK2 mutations in females with Coffin-Lowry RefTitle syndrome. RefLoc Eur J Med Genet 53:268-73 Feature dna; 1 Feature /rnalink: 2 Feature /name: duplication Feature /loc: Ensembl: chromosome:GRCh37:X:20167029:20286218:-1: 64017 Feature /change: +a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004586.2; GI:4759050; NM_004586.2: 263 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: KS6A3_HUMAN: 88 Feature /change: I -> NLRLX Feature /domain: PK1 Diagnosis Coffin-Lowry syndrome Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID NEK1_R127X(1); standard; MUTATION; PK Accession K01362 Systematic name g.22887C>T, c.379C>T, r.379c>u, p.Leu127Leu Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 08-Sep-2011 (Rel. 3, Created) Date 08-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 21211617 RefAuthors Thiel, C., Kessler, K., Giessl, A., Dimmler, A., Shalev, RefAuthors S. A., von der Haar, S., Zenker, M., Zahnleiter, D., RefAuthors Stoss, H., Beinder, E., Abou Jamra, R., Ekici, A. B., RefAuthors Schroder-Kress, N., Aigner, T., Kirchner, T., Reis, A., RefAuthors Brandstatter, J. H., Rauch, A. RefTitle NEK1 mutations cause short-rib polydactyly syndrome type RefTitle majewski. RefLoc Am J Hum Genet 88:106-14 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:4:170313426:170534780:-1: 22887 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001199397.1; GI:313661426; NM_001199397.1: 957 Feature /codon: cta -> tta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: NEK1_HUMAN: 127 Feature /change: L -> L Feature /domain: PK Diagnosis Short Rib-Polydactyly Syndrome, Type II Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID PINK1_T313M(1); standard; MUTATION; PK Accession K01363 Systematic name g.12197C>T, c.938C>T, r.938c>u, p.Thr313Met Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 4) RefNumber [1] RefCrossRef PUBMED; 18541801 RefAuthors Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., RefAuthors Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., RefAuthors Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., RefAuthors Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., RefAuthors Mizuno, Y., Hattori, N. RefTitle Mutation analysis of the PINK1 gene in 391 patients with RefTitle Parkinson disease. RefLoc Arch Neurol 65:802-8 RefNumber [2] RefCrossRef PUBMED; 15955953 RefAuthors Li, Y., Tomiyama, H., Sato, K., Hatano, Y., Yoshino, H., RefAuthors Atsumi, M., Kitaguchi, M., Sasaki, S., Kawaguchi, S., RefAuthors Miyajima, H., Toda, T., Mizuno, Y., Hattori, N. RefTitle Clinicogenetic study of PINK1 mutations in autosomal RefTitle recessive early-onset parkinsonism. RefLoc Neurology 64:1955-7 RefNumber [5] RefCrossRef PUBMED; 16179113 RefAuthors Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., RefAuthors Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, RefAuthors Q., Long, Z. G. RefTitle [Mutation analysis of PINK1 gene in Chinese patients with RefTitle autosomal recessive early-onset parkinsonism type 6]. RefLoc Zhonghua Yi Xue Za Zhi 85:1538-41 RefNumber [4] RefCrossRef PUBMED; 21743139 RefAuthors Zhang, X., Zhang, H., Liao, B., Guo, J., Xia, K., Tang, B. RefTitle Mutation analysis of PINK1 gene in patients with early- RefTitle onset Parkinsonism. RefLoc Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12197 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1032 Feature /codon: acg -> atg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 313 Feature /change: T -> M Feature /domain: PK Diagnosis Parkinson's disease Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 4; Patients: 5; Homozygotes: 3 // ID PINK1_C388R(1); standard; MUTATION; PK Accession K01364 Systematic name g.16089T>C, c.1162T>C, r.1162u>c, p.Cys388Arg Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 3) RefNumber [3] RefCrossRef PUBMED; 16179113 RefAuthors Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., RefAuthors Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, RefAuthors Q., Long, Z. G. RefTitle [Mutation analysis of PINK1 gene in Chinese patients with RefTitle autosomal recessive early-onset parkinsonism type 6]. RefLoc Zhonghua Yi Xue Za Zhi 85:1538-41 RefNumber [4] RefCrossRef PUBMED; 18541801 RefAuthors Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., RefAuthors Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., RefAuthors Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., RefAuthors Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., RefAuthors Mizuno, Y., Hattori, N. RefTitle Mutation analysis of the PINK1 gene in 391 patients with RefTitle Parkinson disease. RefLoc Arch Neurol 65:802-8 RefNumber [7] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16089 Feature /change: t -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1256 Feature /codon: tgc -> cgc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 388 Feature /change: C -> R Feature /domain: PK Diagnosis Parkinson's disease Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 3; Patients: 4; Homozygotes: 2 // ID PINK1_W437R(1); standard; MUTATION; PK Accession K01365 Systematic name g.16598T>C, c.1309T>C, r.1309u>c, p.Trp437Arg Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 13-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18541801 RefAuthors Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., RefAuthors Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., RefAuthors Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., RefAuthors Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., RefAuthors Mizuno, Y., Hattori, N. RefTitle Mutation analysis of the PINK1 gene in 391 patients with RefTitle Parkinson disease. RefLoc Arch Neurol 65:802-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16598 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1403 Feature /codon: tgg -> cgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 437 Feature /change: W -> R Feature /domain: PK Diagnosis Parkinson's disease Occurrence Families: ; Patients: 1; Homozygotes: 1 // ID PINK1_M342V(1); standard; MUTATION; PK Accession K01366 Systematic name g.13170A>G, c.1024A>G, r.1024a>g, p.Met342Val Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 13-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18541801 RefAuthors Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., RefAuthors Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., RefAuthors Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., RefAuthors Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., RefAuthors Mizuno, Y., Hattori, N. RefTitle Mutation analysis of the PINK1 gene in 391 patients with RefTitle Parkinson disease. RefLoc Arch Neurol 65:802-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13170 Feature /change: a -> g Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1118 Feature /codon: atg -> gtg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 342 Feature /change: M -> V Feature /domain: PK Diagnosis Parkinson's disease Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID PINK1_#D297X318(1); standard; MUTATION; PK Accession K01367 Systematic name g.12148delG, c.889delG, r.889delg, p.Asp297fsX21 Description A frame shift deletion mutation in the exon 4 leading to a Description premature stop codon in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 18541801 RefAuthors Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., RefAuthors Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., RefAuthors Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., RefAuthors Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., RefAuthors Mizuno, Y., Hattori, N. RefTitle Mutation analysis of the PINK1 gene in 391 patients with RefTitle Parkinson disease. RefLoc Arch Neurol 65:802-8 RefNumber [5] RefCrossRef PUBMED; 18329316 RefAuthors Savettieri, G., Annesi, G., Civitelli, D., Ciro Candiano, RefAuthors I. C., Salemi, G., Ragonese, P., Annesi, F., Tarantino, RefAuthors P., Terruso, V., D'Amelio, M., Quattrone, A. RefTitle Identification of the novel D297fsX318 PINK1 mutation and RefTitle phenotype variation in a family with early-onset RefTitle Parkinson's disease. RefLoc Parkinsonism Relat Disord 14:509-12 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12148 Feature /change: -g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 983 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 297 Feature /change: D -> MCCPHASTLK AWAMAGRCSS LX Feature /domain: PK Diagnosis Parkinson's disease Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 3; Homozygotes: 2 // ID PINK1_#P196X220(1); standard; MUTATION; PK Accession K01368 Systematic name g.5586delC, c.586delC, r.586delc, p.Pro196fsX24 Description A frame shift deletion mutation in the exon 2 leading to a Description premature stop codon in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 13-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 18541801 RefAuthors Kumazawa, R., Tomiyama, H., Li, Y., Imamichi, Y., RefAuthors Funayama, M., Yoshino, H., Yokochi, F., Fukusako, T., RefAuthors Takehisa, Y., Kashihara, K., Kondo, T., Elibol, B., RefAuthors Bostantjopoulou, S., Toda, T., Takahashi, H., Yoshii, F., RefAuthors Mizuno, Y., Hattori, N. RefTitle Mutation analysis of the PINK1 gene in 391 patients with RefTitle Parkinson disease. RefLoc Arch Neurol 65:802-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5586 Feature /change: -c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 680 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 196 Feature /change: P -> QVPVHQEKGR SELRGPLPSP WPSRX Feature /domain: PK Diagnosis Parkinson's disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R492X(1); standard; MUTATION; PK Accession K01369 Systematic name g.16763C>T, c.1474C>T, r.1474c>u, p.Arg492X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 5) RefNumber [6] RefCrossRef PUBMED; 17960343 RefAuthors Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. RefAuthors C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S. RefTitle PINK1 mutation in Taiwanese early-onset parkinsonism : RefTitle clinical, genetic, and dopamine transporter studies. RefLoc J Neurol 254:1347-55 RefNumber [8] RefCrossRef PUBMED; 11782979 RefAuthors Valente, E. M., Brancati, F., Ferraris, A., Graham, E. A., RefAuthors Davis, M. B., Breteler, M. M., Gasser, T., Bonifati, V., RefAuthors Bentivoglio, A. R., De Michele, G., Durr, A., Cortelli, RefAuthors P., Wassilowsky, D., Harhangi, B. S., Rawal, N., Caputo, RefAuthors V., Filla, A., Meco, G., Oostra, B. A., Brice, A., RefAuthors Albanese, A., Dallapiccola, B., Wood, N. W., , . RefTitle PARK6-linked parkinsonism occurs in several European RefTitle families. RefLoc Ann Neurol 51:14-8 RefNumber [4] RefCrossRef PUBMED; 15349870 RefAuthors Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., RefAuthors Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., RefAuthors Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., RefAuthors Shimizu, N., Toda, T., Mizuno, Y., Hattori, N. RefTitle Novel PINK1 mutations in early-onset parkinsonism. RefLoc Ann Neurol 56:424-7 RefNumber [7] RefCrossRef PUBMED; 16179113 RefAuthors Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., RefAuthors Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, RefAuthors Q., Long, Z. G. RefTitle [Mutation analysis of PINK1 gene in Chinese patients with RefTitle autosomal recessive early-onset parkinsonism type 6]. RefLoc Zhonghua Yi Xue Za Zhi 85:1538-41 RefNumber [10] RefCrossRef PUBMED; 16401616 RefAuthors Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De RefAuthors Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , . RefTitle Mutational analysis of the PINK1 gene in early-onset RefTitle parkinsonism in Europe and North Africa. RefLoc Brain 129:686-94 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16763 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1568 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 492 Feature /change: R -> X Feature /domain: PK Diagnosis Parkinson's disease Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 6; Patients: 8; Homozygotes: 1 Comment -!-Compound heterozygous mutation (Q239X/R492X) Comment -!-Combined mutation in 2 patients(L369P/R492X) // ID PINK1_G193R(1); standard; MUTATION; PK Accession K01370 Systematic name g.5577G>A, c.577G>A, r.577g>a, p.Gly193Arg Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 13-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 17960343 RefAuthors Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. RefAuthors C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S. RefTitle PINK1 mutation in Taiwanese early-onset parkinsonism : RefTitle clinical, genetic, and dopamine transporter studies. RefLoc J Neurol 254:1347-55 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5577 Feature /change: g -> a Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 671 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 193 Feature /change: G -> R Feature /domain: PK Diagnosis Parkinson's disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_Q239X(1); standard; MUTATION; PK Accession K01371 Systematic name g.7477C>T, c.715C>T, r.715c>u, p.Gln239X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [8] RefCrossRef PUBMED; 17960343 RefAuthors Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. RefAuthors C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S. RefTitle PINK1 mutation in Taiwanese early-onset parkinsonism : RefTitle clinical, genetic, and dopamine transporter studies. RefLoc J Neurol 254:1347-55 RefNumber [3] RefCrossRef PUBMED; 15349870 RefAuthors Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., RefAuthors Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., RefAuthors Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., RefAuthors Shimizu, N., Toda, T., Mizuno, Y., Hattori, N. RefTitle Novel PINK1 mutations in early-onset parkinsonism. RefLoc Ann Neurol 56:424-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7477 Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 809 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 239 Feature /change: Q -> X Feature /domain: PK Diagnosis Parkinson's disease Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 3; Patients: 3; Homozygotes: 0 Comment -!-Q239X/R492X combined mutation found in one patient // ID PINK1_L268L(1); standard; MUTATION; PK Accession K01372 Systematic name g.12063A>G, c.804A>G, r.804a>g, p.Leu268Leu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 13-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 17960343 RefAuthors Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. RefAuthors C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S. RefTitle PINK1 mutation in Taiwanese early-onset parkinsonism : RefTitle clinical, genetic, and dopamine transporter studies. RefLoc J Neurol 254:1347-55 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12063 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 898 Feature /codon: cta -> ctg; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 268 Feature /change: L -> L Feature /domain: PK Diagnosis Parkinson's disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_Y404Y(1); standard; MUTATION; PK Accession K01373 Systematic name g.16139C>T, c.1212C>T, r.1212c>u, p.Tyr404Tyr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 13-Sep-2011 (Rel. 3, Created) Date 13-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [8] RefCrossRef PUBMED; 17960343 RefAuthors Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. RefAuthors C., Yen, T. C., Chen, R. S., Wey, S. P., Lu, C. S. RefTitle PINK1 mutation in Taiwanese early-onset parkinsonism : RefTitle clinical, genetic, and dopamine transporter studies. RefLoc J Neurol 254:1347-55 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16139 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1306 Feature /codon: tac -> tat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 404 Feature /change: Y -> Y Feature /domain: PK Diagnosis Parkinson's disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_A244G(1); standard; MUTATION; PK Accession K01374 Systematic name g.7493C>G, c.731C>G, r.731c>g, p.Ala244Gly Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 14-Sep-2011 (Rel. 3, Created) Date 14-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18307263 RefAuthors Gelmetti, V., Ferraris, A., Brusa, L., Romano, F., RefAuthors Lombardi, F., Barzaghi, C., Stanzione, P., Garavaglia, B., RefAuthors Dallapiccola, B., Valente, E. M. RefTitle Late onset sporadic Parkinson's disease caused by PINK1 RefTitle mutations: clinical and functional study. RefLoc Mov Disord 23:881-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7493 Feature /change: c -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 825 Feature /codon: gcg -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 244 Feature /change: A -> G Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_V317I(1); standard; MUTATION; PK Accession K01375 Systematic name g.12208G>A, c.949G>A, r.949g>a, p.Val317Ile Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 14-Sep-2011 (Rel. 3, Created) Date 14-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18307263 RefAuthors Gelmetti, V., Ferraris, A., Brusa, L., Romano, F., RefAuthors Lombardi, F., Barzaghi, C., Stanzione, P., Garavaglia, B., RefAuthors Dallapiccola, B., Valente, E. M. RefTitle Late onset sporadic Parkinson's disease caused by PINK1 RefTitle mutations: clinical and functional study. RefLoc Mov Disord 23:881-5 RefNumber [2] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12208 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1043 Feature /codon: gtt -> att; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 317 Feature /change: V -> I Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID PINK1_K186N(1); standard; MUTATION; PK Accession K01376 Systematic name g.5558G>C, c.558G>C, r.558g>c, p.Lys186Asn Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 14-Sep-2011 (Rel. 3, Created) Date 14-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5558 Feature /change: g -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 652 Feature /codon: aag -> aac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 186 Feature /change: K -> N Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_P196L(1); standard; MUTATION; PK Accession K01377 Systematic name g.5587C>T, c.587C>T, r.587c>u, p.Pro196Leu Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 14-Sep-2011 (Rel. 3, Created) Date 14-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5587 Feature /change: c -> t Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 681 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 196 Feature /change: P -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_P209L(1); standard; MUTATION; PK Accession K01378 Systematic name g.5626C>T, c.626C>T, r.626c>u, p.Pro209Leu Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 14-Sep-2011 (Rel. 3, Created) Date 14-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5626 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 720 Feature /codon: ccg -> ctg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 209 Feature /change: P -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_E231G(1); standard; MUTATION; PK Accession K01379 Systematic name g.7454A>G, c.692A>G, r.692a>g, p.Glu231Gly Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 14-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [16] RefCrossRef PUBMED; 19847793 RefAuthors Tan, E. K., Refai, F. S., Siddique, M., Yap, K., Ho, P., RefAuthors Fook-Chong, S., Zhao, Y. RefTitle Clinically reported heterozygous mutations in the PINK1 RefTitle kinase domain exert a gene dosage effect. RefLoc Hum Mutat 30:1551-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7454 Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 786 Feature /codon: gaa -> gga; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 231 Feature /change: E -> G Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_N235I(1); standard; MUTATION; PK Accession K01380 Systematic name g.7466A>T, c.704A>T, r.704a>u, p.Asn235Ile Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7466 Feature /change: a -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 798 Feature /codon: aac -> atc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 235 Feature /change: N -> I Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_T257I(1); standard; MUTATION; PK Accession K01381 Systematic name g.7532C>T, c.770C>T, r.770c>u, p.Thr257Ile Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7532 Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 864 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 257 Feature /change: T -> I Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R263G(1); standard; MUTATION; PK Accession K01382 Systematic name g.12046A>G, c.787A>G, r.787a>g, p.Arg263Gly Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12046 Feature /change: a -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 881 Feature /codon: aga -> gga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 263 Feature /change: R -> G Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_L268V(1); standard; MUTATION; PK Accession K01383 Systematic name g.12061C>G, c.802C>G, r.802c>g, p.Leu268Val Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12061 Feature /change: c -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 896 Feature /codon: cta -> gta; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 268 Feature /change: L -> V Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_R276Q(1); standard; MUTATION; PK Accession K01384 Systematic name g.12086G>A, c.827G>A, r.827g>a, p.Arg276Gln Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12086 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 921 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 276 Feature /change: R -> Q Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R279H(1); standard; MUTATION; PK Accession K01385 Systematic name g.12095G>A, c.836G>A, r.836g>a, p.Arg279His Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12095 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 930 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 279 Feature /change: R -> H Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_A280T(1); standard; MUTATION; PK Accession K01386 Systematic name g.12097G>A, c.838G>A, r.838g>a, p.Ala280Thr Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12097 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 932 Feature /codon: gcc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 280 Feature /change: A -> T Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_P296L(1); standard; MUTATION; PK Accession K01387 Systematic name g.12146C>T, c.887C>T, r.887c>u, p.Pro296Leu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12146 Feature /change: c -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 981 Feature /codon: cct -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 296 Feature /change: P -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_M318L(1); standard; MUTATION; PK Accession K01388 Systematic name g.12211A>T, c.952A>T, r.952a>u, p.Met318Leu Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12211 Feature /change: a -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1046 Feature /codon: atg -> ttg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 318 Feature /change: M -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_Q456X(1); standard; MUTATION; PK Accession K01389 Systematic name g.16655C>T, c.1366C>T, r.1366c>u, p.Gln456X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 6) RefNumber [1] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [2] RefCrossRef PUBMED; 16606941 RefAuthors Klein, C., Grunewald, A., Hedrich, K. RefTitle Early-onset parkinsonism associated with PINK1 mutations: RefTitle frequency, genotypes, and phenotypes. RefLoc Neurology 66:1129-30; author reply 1129-30 RefNumber [7] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 RefNumber [9] RefCrossRef PUBMED; 16401616 RefAuthors Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De RefAuthors Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , . RefTitle Mutational analysis of the PINK1 gene in early-onset RefTitle parkinsonism in Europe and North Africa. RefLoc Brain 129:686-94 RefNumber [12] RefCrossRef PUBMED; 16769864 RefAuthors Hedrich, K., Hagenah, J., Djarmati, A., Hiller, A., RefAuthors Lohnau, T., Lasek, K., Grunewald, A., Hilker, R., RefAuthors Steinlechner, S., Boston, H., Kock, N., Schneider-Gold, RefAuthors C., Kress, W., Siebner, H., Binkofski, F., Lencer, R., RefAuthors Munchau, A., Klein, C. RefTitle Clinical spectrum of homozygous and heterozygous PINK1 RefTitle mutations in a large German family with Parkinson disease: RefTitle role of a single hit? RefLoc Arch Neurol 63:833-8 RefNumber [17] RefCrossRef PUBMED; 18685134 RefAuthors Ishihara-Paul, L., Hulihan, M. M., Kachergus, J., Upmanyu, RefAuthors R., Warren, L., Amouri, R., Elango, R., Prinjha, R. K., RefAuthors Soto, A., Kefi, M., Zouari, M., Sassi, S. B., Yahmed, S. RefAuthors B., El Euch-Fayeche, G., Matthews, P. M., Middleton, L. RefAuthors T., Gibson, R. A., Hentati, F., Farrer, M. J. RefTitle PINK1 mutations and parkinsonism. RefLoc Neurology 71:896-902 RefNumber [20] RefCrossRef PUBMED; 19500570 RefAuthors Grunewald, A., Gegg, M. E., Taanman, J. W., King, R. H., RefAuthors Kock, N., Klein, C., Schapira, A. H. RefTitle Differential effects of PINK1 nonsense and missense RefTitle mutations on mitochondrial function and morphology. RefLoc Exp Neurol 219:266-73 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16655 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1460 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 456 Feature /change: Q -> X Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 10; Patients: 34; Homozygotes: 18 // ID PINK1_P322L(1); standard; MUTATION; PK Accession K01390 Systematic name g.13111C>T, c.965C>T, r.965c>u, p.Pro322Leu Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13111 Feature /change: c -> t Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1059 Feature /codon: ccc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 322 Feature /change: P -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_A339T(1); standard; MUTATION; PK Accession K01391 Systematic name g.13161G>A, c.1015G>A, r.1015g>a, p.Ala339Thr Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [16] RefCrossRef PUBMED; 19847793 RefAuthors Tan, E. K., Refai, F. S., Siddique, M., Yap, K., Ho, P., RefAuthors Fook-Chong, S., Zhao, Y. RefTitle Clinically reported heterozygous mutations in the PINK1 RefTitle kinase domain exert a gene dosage effect. RefLoc Hum Mutat 30:1551-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13161 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1109 Feature /codon: gcc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 339 Feature /change: A -> T Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID PINK1_D362H(1); standard; MUTATION; PK Accession K01392 Systematic name g.13230G>C, c.1084G>C, r.1084g>c, p.Asp362His Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13230 Feature /change: g -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1178 Feature /codon: gac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 362 Feature /change: D -> H Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_A383T(1); standard; MUTATION; PK Accession K01393 Systematic name g.16074G>A, c.1147G>A, r.1147g>a, p.Ala383Thr Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16074 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1241 Feature /codon: gca -> aca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 383 Feature /change: A -> T Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID PINK1_G395V(1); standard; MUTATION; PK Accession K01394 Systematic name g.16111G>T, c.1184G>T, r.1184g>u, p.Gly395Val Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16111 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1278 Feature /codon: ggc -> gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 395 Feature /change: G -> V Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_P399L(1); standard; MUTATION; PK Accession K01395 Systematic name g.16123C>T, c.1196C>T, r.1196c>u, p.Pro399Leu Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16123 Feature /change: c -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1290 Feature /codon: ccc -> ctc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 399 Feature /change: P -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R407Q(1); standard; MUTATION; PK Accession K01396 Systematic name g.16147G>A, c.1220G>A, r.1220g>a, p.Arg407Gln Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [2] RefCrossRef PUBMED; 21743139 RefAuthors Zhang, X., Zhang, H., Liao, B., Guo, J., Xia, K., Tang, B. RefTitle Mutation analysis of PINK1 gene in patients with early- RefTitle onset Parkinsonism. RefLoc Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16147 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1314 Feature /codon: cgg -> cag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 407 Feature /change: R -> Q Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 3; Patients: 3; Homozygotes: 0 // ID PINK1_G411S(1); standard; MUTATION; PK Accession K01397 Systematic name g.16158G>A, c.1231G>A, r.1231g>a, p.Gly411Ser Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [6] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16158 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1325 Feature /codon: ggc -> agc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 411 Feature /change: G -> S Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 6; Patients: 6; Homozygotes: 1 // ID PINK1_P425S(1); standard; MUTATION; PK Accession K01398 Systematic name g.16562C>T, c.1273C>T, r.1273c>u, p.Pro425Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16562 Feature /change: c -> t Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1367 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 425 Feature /change: P -> S Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_Y431H(1); standard; MUTATION; PK Accession K01399 Systematic name g.16580T>C, c.1291T>C, r.1291u>c, p.Tyr431His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16580 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1385 Feature /codon: tac -> cac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 431 Feature /change: Y -> H Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_W437X(1); standard; MUTATION; PK Accession K01400 Systematic name g.16600G>A, c.1311G>A, r.1311g>a, p.Trp437X Description A point mutation in the exon 7 leading to a premature stop Description codon in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 3) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [6] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 RefNumber [9] RefCrossRef PUBMED; 16700027 RefAuthors Criscuolo, C., Volpe, G., De Rosa, A., Varrone, A., RefAuthors Marongiu, R., Mancini, P., Salvatore, E., Dallapiccola, RefAuthors B., Filla, A., Valente, E. M., De Michele, G. RefTitle PINK1 homozygous W437X mutation in a patient with apparent RefTitle dominant transmission of parkinsonism. RefLoc Mov Disord 21:1265-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16600 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1405 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 437 Feature /change: W -> X Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 7; Patients: 11; Homozygotes: 8 // ID PINK1_I442T(1); standard; MUTATION; PK Accession K01401 Systematic name g.16614T>C, c.1325T>C, r.1325u>c, p.Ile442Thr Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 RefNumber [16] RefCrossRef PUBMED; 19847793 RefAuthors Tan, E. K., Refai, F. S., Siddique, M., Yap, K., Ho, P., RefAuthors Fook-Chong, S., Zhao, Y. RefTitle Clinically reported heterozygous mutations in the PINK1 RefTitle kinase domain exert a gene dosage effect. RefLoc Hum Mutat 30:1551-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16614 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1419 Feature /codon: atc -> acc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 442 Feature /change: I -> T Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_N451S(1); standard; MUTATION; PK Accession K01402 Systematic name g.16641A>G, c.1352A>G, r.1352a>g, p.Asn451Ser Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16641 Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1446 Feature /codon: aat -> agt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 451 Feature /change: N -> S Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_L461R(1); standard; MUTATION; PK Accession K01403 Systematic name g.16671T>G, c.1382T>G, r.1382u>g, p.Leu461Arg Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16671 Feature /change: t -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1476 Feature /codon: ctt -> cgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 461 Feature /change: L -> R Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_E476K(1); standard; MUTATION; PK Accession K01404 Systematic name g.16715G>A, c.1426G>A, r.1426g>a, p.Glu476Lys Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16715 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1520 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 476 Feature /change: E -> K Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 4; Patients: 4; Homozygotes: 0 // ID PINK1_P498L(1); standard; MUTATION; PK Accession K01405 Systematic name g.17984C>T, c.1493C>T, r.1493c>u, p.Pro498Leu Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 17984 Feature /change: c -> t Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1587 Feature /codon: cca -> cta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 498 Feature /change: P -> L Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R501Q(1); standard; MUTATION; PK Accession K01406 Systematic name g.17993G>A, c.1502G>A, r.1502g>a, p.Arg501Gln Description A point mutation in the exon 8 leading to an amino acid Description change in the PK domain Date 15-Sep-2011 (Rel. 3, Created) Date 15-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 18330912 RefAuthors Marongiu, R., Ferraris, A., Ialongo, T., Michiorri, S., RefAuthors Soleti, F., Ferrari, F., Elia, A. E., Ghezzi, D., RefAuthors Albanese, A., Altavista, M. C., Antonini, A., Barone, P., RefAuthors Brusa, L., Cortelli, P., Martinelli, P., Pellecchia, M. RefAuthors T., Pezzoli, G., Scaglione, C., Stanzione, P., Tinazzi, RefAuthors M., Zecchinelli, A., Zeviani, M., Cassetta, E., RefAuthors Garavaglia, B., Dallapiccola, B., Bentivoglio, A. R., RefAuthors Valente, E. M., , . RefTitle PINK1 heterozygous rare variants: prevalence, significance RefTitle and phenotypic spectrum. RefLoc Hum Mutat 29:565 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 17993 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1596 Feature /codon: cga -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 501 Feature /change: R -> Q Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_L278V(1); standard; MUTATION; PK Accession K01407 Systematic name g.12091C>G, c.832C>G, r.832c>g, p.Leu278Val Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 21743139 RefAuthors Zhang, X., Zhang, H., Liao, B., Guo, J., Xia, K., Tang, B. RefTitle Mutation analysis of PINK1 gene in patients with early- RefTitle onset Parkinsonism. RefLoc Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12091 Feature /change: c -> g Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 926 Feature /codon: ctc -> gtc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 278 Feature /change: L -> V Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R246X(1); standard; MUTATION; PK Accession K01408 Systematic name g.7498C>T, c.736C>T, r.736c>u, p.Arg246X Description A point mutation in the exon 3 leading to a premature stop Description codon in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 15349870 RefAuthors Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., RefAuthors Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., RefAuthors Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., RefAuthors Shimizu, N., Toda, T., Mizuno, Y., Hattori, N. RefTitle Novel PINK1 mutations in early-onset parkinsonism. RefLoc Ann Neurol 56:424-7 RefNumber [6] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7498 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 830 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: PINK1_HUMAN: 246 Feature /change: R -> X Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_H271Q(1); standard; MUTATION; PK Accession K01409 Systematic name g.12072C>A, c.813C>A, r.813c>a, p.His271Gln Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 15349870 RefAuthors Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., RefAuthors Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., RefAuthors Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., RefAuthors Shimizu, N., Toda, T., Mizuno, Y., Hattori, N. RefTitle Novel PINK1 mutations in early-onset parkinsonism. RefLoc Ann Neurol 56:424-7 RefNumber [6] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12072 Feature /change: c -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 907 Feature /codon: cac -> caa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 271 Feature /change: H -> Q Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_L347P(1); standard; MUTATION; PK Accession K01410 Systematic name g.13186T>C, c.1040T>C, r.1040u>c, p.Leu347Pro Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 4) RefNumber [2] RefCrossRef PUBMED; 15349870 RefAuthors Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., RefAuthors Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., RefAuthors Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., RefAuthors Shimizu, N., Toda, T., Mizuno, Y., Hattori, N. RefTitle Novel PINK1 mutations in early-onset parkinsonism. RefLoc Ann Neurol 56:424-7 RefNumber [6] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 RefNumber [11] RefCrossRef PUBMED; 17055324 RefAuthors Doostzadeh, J., Tetrud, J. W., Allen-Auerbach, M., RefAuthors Langston, J. W., Schule, B. RefTitle Novel features in a patient homozygous for the L347P RefTitle mutation in the PINK1 gene. RefLoc Parkinsonism Relat Disord 13:359-61 RefNumber [14] RefCrossRef PUBMED; 18359116 RefAuthors Moriwaki, Y., Kim, Y. J., Ido, Y., Misawa, H., Kawashima, RefAuthors K., Endo, S., Takahashi, R. RefTitle L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 RefTitle chaperones is rapidly degraded in a proteasome-dependent RefTitle manner. RefLoc Neurosci Res 61:43-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13186 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1134 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 347 Feature /change: L -> P Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 4; Patients: 4; Homozygotes: 1 // ID PINK1_E417G(1); standard; MUTATION; PK Accession K01411 Systematic name g.16177A>G, c.1250A>G, r.1250a>g, p.Glu417Gly Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [2] RefCrossRef PUBMED; 15349870 RefAuthors Hatano, Y., Li, Y., Sato, K., Asakawa, S., Yamamura, Y., RefAuthors Tomiyama, H., Yoshino, H., Asahina, M., Kobayashi, S., RefAuthors Hassin-Baer, S., Lu, C. S., Ng, A. R., Rosales, R. L., RefAuthors Shimizu, N., Toda, T., Mizuno, Y., Hattori, N. RefTitle Novel PINK1 mutations in early-onset parkinsonism. RefLoc Ann Neurol 56:424-7 RefNumber [6] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16177 Feature /change: a -> g Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1344 Feature /codon: gag -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 417 Feature /change: E -> G Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_Y454Y(1); standard; MUTATION; PK Accession K01412 Systematic name g.16651C>T, c.1362C>T, r.1362c>u, p.Tyr454Tyr Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [4] RefCrossRef PUBMED; 16179113 RefAuthors Zhang, Y. H., Tang, B. S., Guo, J. F., Xia, K., Xu, B., RefAuthors Cai, F., Deng, H. X., Yan, X. X., Chen, T., Cao, L., Pan, RefAuthors Q., Long, Z. G. RefTitle [Mutation analysis of PINK1 gene in Chinese patients with RefTitle autosomal recessive early-onset parkinsonism type 6]. RefLoc Zhonghua Yi Xue Za Zhi 85:1538-41 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16651 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1456 Feature /codon: tac -> tat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 454 Feature /change: Y -> Y Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 Comment -!-Synonymous Mutation // ID PINK1_G309D(1); standard; MUTATION; PK Accession K01413 Systematic name g.12185G>A, c.926G>A, r.926g>a, p.Gly309Asp Description A point mutation in the exon 4 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 12185 Feature /change: g -> a Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1020 Feature /codon: ggc -> gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 309 Feature /change: G -> D Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_A168P(1); standard; MUTATION; PK Accession K01414 Systematic name g.5502G>C, c.502G>C, r.502g>c, p.Ala168Pro Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5502 Feature /change: g -> c Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 596 Feature /codon: gct -> cct; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 168 Feature /change: A -> P Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_R464H(1); standard; MUTATION; PK Accession K01415 Systematic name g.16680G>A, c.1391G>A, r.1391g>a, p.Arg464His Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16680 Feature /change: g -> a Feature /CpG; 2 Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1485 Feature /codon: cgc -> cac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 464 Feature /change: R -> H Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_E240K(1); standard; MUTATION; PK Accession K01416 Systematic name g.7480G>A, c.718G>A, r.718g>a, p.Glu240Lys Description A point mutation in the exon 3 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [5] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 RefNumber [7] RefCrossRef PUBMED; 16401616 RefAuthors Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De RefAuthors Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , . RefTitle Mutational analysis of the PINK1 gene in early-onset RefTitle parkinsonism in Europe and North Africa. RefLoc Brain 129:686-94 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 7480 Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 812 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 240 Feature /change: E -> K Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 2; Patients: 2; Homozygotes: 0 // ID PINK1_L489P(1); standard; MUTATION; PK Accession K01417 Systematic name g.16755T>C, c.1466T>C, r.1466u>c, p.Leu489Pro Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 16547921 RefAuthors Zadikoff, C., Rogaeva, E., Djarmati, A., Sato, C., Salehi- RefAuthors Rad, S., St George-Hyslop, P., Klein, C., Lang, A. E. RefTitle Homozygous and heterozygous PINK1 mutations: RefTitle considerations for diagnosis and care of Parkinson's RefTitle disease patients. RefLoc Mov Disord 21:875-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16755 Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1560 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 489 Feature /change: L -> P Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID PINK1_L369P(1); standard; MUTATION; PK Accession K01418 Systematic name g.13252T>C, c.1106T>C, r.1106u>c, p.Leu369Pro Description A point mutation in the exon 5 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16401616 RefAuthors Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De RefAuthors Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , . RefTitle Mutational analysis of the PINK1 gene in early-onset RefTitle parkinsonism in Europe and North Africa. RefLoc Brain 129:686-94 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 13252 Feature /change: t -> c Feature /genomic_region: exon; 5 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1200 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 369 Feature /change: L -> P Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 2; Homozygotes: 0 Comment -!-Combined mutation in 2 patients(L369P/R492X) // ID PINK1_G386A(1); standard; MUTATION; PK Accession K01419 Systematic name g.16084G>C, c.1157G>C, r.1157g>c, p.Gly386Ala Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16401616 RefAuthors Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De RefAuthors Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , . RefTitle Mutational analysis of the PINK1 gene in early-onset RefTitle parkinsonism in Europe and North Africa. RefLoc Brain 129:686-94 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16084 Feature /change: g -> c Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1251 Feature /codon: ggc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 386 Feature /change: G -> A Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 2; Homozygotes: 0 // ID PINK1_G409V(1); standard; MUTATION; PK Accession K01420 Systematic name g.16153G>T, c.1226G>T, r.1226g>u, p.Gly409Val Description A point mutation in the exon 6 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [6] RefCrossRef PUBMED; 16401616 RefAuthors Ibanez, P., Lesage, S., Lohmann, E., Thobois, S., De RefAuthors Michele, G., Borg, M., Agid, Y., Durr, A., Brice, A., , . RefTitle Mutational analysis of the PINK1 gene in early-onset RefTitle parkinsonism in Europe and North Africa. RefLoc Brain 129:686-94 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16153 Feature /change: g -> t Feature /genomic_region: exon; 6 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1320 Feature /codon: gga -> gta; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 409 Feature /change: G -> V Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID PINK1_G440E(1); standard; MUTATION; PK Accession K01421 Systematic name g.16608G>A, c.1319G>A, r.1319g>a, p.Gly440Glu Description A point mutation in the exon 7 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 2) RefNumber [12] RefCrossRef PUBMED; 18685134 RefAuthors Ishihara-Paul, L., Hulihan, M. M., Kachergus, J., Upmanyu, RefAuthors R., Warren, L., Amouri, R., Elango, R., Prinjha, R. K., RefAuthors Soto, A., Kefi, M., Zouari, M., Sassi, S. B., Yahmed, S. RefAuthors B., El Euch-Fayeche, G., Matthews, P. M., Middleton, L. RefAuthors T., Gibson, R. A., Hentati, F., Farrer, M. J. RefTitle PINK1 mutations and parkinsonism. RefLoc Neurology 71:896-902 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 16608 Feature /change: g -> a Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 1413 Feature /codon: gga -> gaa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 440 Feature /change: G -> E Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 3; Homozygotes: 3 // ID PINK1_V170G(1); standard; MUTATION; PK Accession K01422 Systematic name g.5509T>G, c.509T>G, r.509u>g, p.Val170Gly Description A point mutation in the exon 2 leading to an amino acid Description change in the PK domain Date 26-Sep-2011 (Rel. 3, Created) Date 26-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [14] RefCrossRef PUBMED; 19500570 RefAuthors Grunewald, A., Gegg, M. E., Taanman, J. W., King, R. H., RefAuthors Kock, N., Klein, C., Schapira, A. H. RefTitle Differential effects of PINK1 nonsense and missense RefTitle mutations on mitochondrial function and morphology. RefLoc Exp Neurol 219:266-73 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:1:20958948:20979004:1: 5509 Feature /change: t -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_032409.2; GI:14165272; NM_032409.2: 603 Feature /codon: gtg -> ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: PINK1_HUMAN: 170 Feature /change: V -> G Feature /domain: PK Diagnosis Autosomal recessive early-onset Parkinson disease Occurrence Families: 1; Patients: 1; Homozygotes: 1 // ID ACVR2A_#C455X475(1); standard; MUTATION; PK Accession K01423 Systematic name g.83579delT, c.1363delT, r.1363delu, p.Cys455fsX20 Description A frame shift deletion mutation in the exon 11 leading to a Description premature stop codon in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12615714 RefAuthors Hempen, P. M., Zhang, L., Bansal, R. K., Iacobuzio- RefAuthors Donahue, C. A., Murphy, K. M., Maitra, A., Vogelstein, B., RefAuthors Whitehead, R. H., Markowitz, S. D., Willson, J. K., Yeo, RefAuthors C. J., Hruban, R. H., Kern, S. E. RefTitle Evidence of selection for clones having genetic RefTitle inactivation of the activin A type II receptor (ACVR2) RefTitle gene in gastrointestinal cancers. RefLoc Cancer Res 63:994-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:2:148601086:148689393:1: 83579 Feature /change: -t Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001616.3; GI:4501897; NM_001616.3: 1515 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: AVR2A_HUMAN: 455 Feature /change: C -> VKPLKNVGIT TQKPGYQLDV X Feature /domain: PK Diagnosis GASTROINTESTINAL CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVR2A_#K435X441(1); standard; MUTATION; PK Accession K01424 Systematic name g.82601delA, c.1303delA, r.1303dela, p.Lys437fsX4 Description A frame shift deletion mutation in the exon 10 leading to a Description premature stop codon in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12615714 RefAuthors Hempen, P. M., Zhang, L., Bansal, R. K., Iacobuzio- RefAuthors Donahue, C. A., Murphy, K. M., Maitra, A., Vogelstein, B., RefAuthors Whitehead, R. H., Markowitz, S. D., Willson, J. K., Yeo, RefAuthors C. J., Hruban, R. H., Kern, S. E. RefTitle Evidence of selection for clones having genetic RefTitle inactivation of the activin A type II receptor (ACVR2) RefTitle gene in gastrointestinal cancers. RefLoc Cancer Res 63:994-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:2:148601086:148689393:1: 82601 Feature /change: -a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_001616.3; GI:4501897; NM_001616.3: 1455 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: AVR2A_HUMAN: 435 Feature /change: K -> KKRGLFX Feature /domain: PK Diagnosis GASTROINTESTINAL CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ACVR2A_P423Q(1); standard; MUTATION; PK Accession K01425 Systematic name g.82566C>A, c.1268C>A, r.1268c>a, p.Pro423Gln Description A point mutation in the exon 10 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12615714 RefAuthors Hempen, P. M., Zhang, L., Bansal, R. K., Iacobuzio- RefAuthors Donahue, C. A., Murphy, K. M., Maitra, A., Vogelstein, B., RefAuthors Whitehead, R. H., Markowitz, S. D., Willson, J. K., Yeo, RefAuthors C. J., Hruban, R. H., Kern, S. E. RefTitle Evidence of selection for clones having genetic RefTitle inactivation of the activin A type II receptor (ACVR2) RefTitle gene in gastrointestinal cancers. RefLoc Cancer Res 63:994-9 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:148601086:148689393:1: 82566 Feature /change: c -> a Feature /genomic_region: exon; 10 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001616.3; GI:4501897; NM_001616.3: 1420 Feature /codon: cca -> caa; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: AVR2A_HUMAN: 423 Feature /change: P -> Q Feature /domain: PK Diagnosis GASTROINTESTINAL CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID ARAF_A451T(1); standard; MUTATION; PK Accession K01426 Systematic name g.9473G>A, c.1351G>A, r.1351g>a, p.Ala451Thr Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 15676015 RefAuthors Lee, J. W., Soung, Y. H., Kim, S. Y., Park, W. S., Nam, S. RefAuthors W., Min, W. S., Kim, S. H., Lee, J. Y., Yoo, N. J., Lee, RefAuthors S. H. RefTitle Mutational analysis of the ARAF gene in human cancers. RefLoc APMIS 113:54-7 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:X:47419516:47432319:1: 9473 Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001654.3; GI:4502193; NM_001654.3: 1545 Feature /codon: gcc -> acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: ARAF_HUMAN: 451 Feature /change: A -> T Feature /domain: PK Diagnosis VARIOUS CANCER Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_P877S(1); standard; MUTATION; PK Accession K01427 Systematic name g.53723C>T, c.2629C>T, r.2629c>u, p.Pro877Ser Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [5] RefCrossRef PUBMED; 12086964 RefAuthors Biason-Lauber, A., Lang-Muritano, M., Vaccaro, T., RefAuthors Schoenle, E. J. RefTitle Loss of kinase activity in a patient with Wolcott-Rallison RefTitle syndrome caused by a novel mutation in the EIF2AK3 gene. RefLoc Diabetes 51:2301-5 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53723 Feature /change: c -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2931 Feature /codon: ccc -> tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 877 Feature /change: P -> S Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 3; Homozygotes: 1 // ID FGFR4_E681K(1); standard; MUTATION; PK Accession K01428 Systematic name g.10744G>A, c.2041G>A, r.2041g>a, p.Glu681Lys Description A point mutation in the exon 16 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 17487277 RefAuthors Marks, J. L., McLellan, M. D., Zakowski, M. F., Lash, A. RefAuthors E., Kasai, Y., Broderick, S., Sarkaria, I. S., Pham, D., RefAuthors Singh, B., Miner, T. L., Fewell, G. A., Fulton, L. L., RefAuthors Mardis, E. R., Wilson, R. K., Kris, M. G., Rusch, V. W., RefAuthors Varmus, H., Pao, W. RefTitle Mutational analysis of EGFR and related signaling pathway RefTitle genes in lung adenocarcinomas identifies a novel somatic RefTitle kinase domain mutation in FGFR4. RefLoc PLoS One 2:e426 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:5:176512887:176526145:1: 10744 Feature /change: g -> a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_002011.3; GI:47524173; NM_002011.3: 2208 Feature /codon: gag -> aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: FGFR4_HUMAN: 681 Feature /change: E -> K Feature /domain: PK Diagnosis Lung Adenocarcinomas Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_L1058P(1); standard; MUTATION; PK Accession K01429 Systematic name g.70663T>C, c.3173T>C, r.3173u>c, p.Leu1058Pro Description A point mutation in the exon 17 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15220213 RefAuthors Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., RefAuthors Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, RefAuthors R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., RefAuthors Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., RefAuthors Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., RefAuthors Julier, C. RefTitle Wolcott-Rallison Syndrome: clinical, genetic, and RefTitle functional study of EIF2AK3 mutations and suggestion of RefTitle genetic heterogeneity. RefLoc Diabetes 53:1876-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 70663 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3475 Feature /codon: ctc -> ccc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 1058 Feature /change: L -> P Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_W899C(1); standard; MUTATION; PK Accession K01430 Systematic name g.53791G>T, c.2697G>T, r.2697g>u, p.Trp899Cys Description A point mutation in the exon 13 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15220213 RefAuthors Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., RefAuthors Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, RefAuthors R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., RefAuthors Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., RefAuthors Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., RefAuthors Julier, C. RefTitle Wolcott-Rallison Syndrome: clinical, genetic, and RefTitle functional study of EIF2AK3 mutations and suggestion of RefTitle genetic heterogeneity. RefLoc Diabetes 53:1876-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53791 Feature /change: g -> t Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2999 Feature /codon: tgg -> tgt; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 899 Feature /change: W -> C Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_N656K(1); standard; MUTATION; PK Accession K01431 Systematic name g.51955T>A, c.1968T>A, r.1968u>a, p.Asn656Lys Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15220213 RefAuthors Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., RefAuthors Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, RefAuthors R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., RefAuthors Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., RefAuthors Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., RefAuthors Julier, C. RefTitle Wolcott-Rallison Syndrome: clinical, genetic, and RefTitle functional study of EIF2AK3 mutations and suggestion of RefTitle genetic heterogeneity. RefLoc Diabetes 53:1876-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51955 Feature /change: t -> a Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2270 Feature /codon: aat -> aaa; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 656 Feature /change: N -> K Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_L646P(1); standard; MUTATION; PK Accession K01432 Systematic name g.51924T>C, c.1937T>C, r.1937u>c, p.Leu646Pro Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15220213 RefAuthors Senee, V., Vattem, K. M., Delepine, M., Rainbow, L. A., RefAuthors Haton, C., Lecoq, A., Shaw, N. J., Robert, J. J., Rooman, RefAuthors R., Diatloff-Zito, C., Michaud, J. L., Bin-Abbas, B., RefAuthors Taha, D., Zabel, B., Franceschini, P., Topaloglu, A. K., RefAuthors Lathrop, G. M., Barrett, T. G., Nicolino, M., Wek, R. C., RefAuthors Julier, C. RefTitle Wolcott-Rallison Syndrome: clinical, genetic, and RefTitle functional study of EIF2AK3 mutations and suggestion of RefTitle genetic heterogeneity. RefLoc Diabetes 53:1876-83 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51924 Feature /change: t -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2239 Feature /codon: ctt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 646 Feature /change: L -> P Feature /domain: PK Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_#R909X932(1); standard; MUTATION; PK Accession K01433 Systematic name g.53820delG, c.2726delG, r.2726delg, p.Arg909fsX24 Description A frame shift deletion mutation in the exon 13 leading to a Description premature stop codon in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [2] RefCrossRef PUBMED; 15384883 RefAuthors Iyer, S., Korada, M., Rainbow, L., Kirk, J., Brown, R. M., RefAuthors Shaw, N., Barrett, T. G. RefTitle Wolcott-Rallison syndrome: a clinical and genetic study of RefTitle three children, novel mutation in EIF2AK3 and a review of RefTitle the literature. RefLoc Acta Paediatr 93:1195-201 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53820 Feature /change: -g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3028 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: E2AK3_HUMAN: 909 Feature /change: R -> KRGACVCTSS CRSQRQWSFF TVKDX Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 3; Homozygotes: 0 // ID EIF2AK3_R903X(1); standard; MUTATION; PK Accession K01434 Systematic name g.53801C>T, c.2707C>T, r.2707c>u, p.Arg903X Description A point mutation in the exon 13 leading to a premature stop Description codon in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 53801 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3009 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: E2AK3_HUMAN: 903 Feature /change: R -> X Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_R1065X(1); standard; MUTATION; PK Accession K01435 Systematic name g.70683C>T, c.3193C>T, r.3193c>u, p.Arg1065X Description A point mutation in the exon 17 leading to a premature stop Description codon in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 70683 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3495 Feature /codon: cga -> tga; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISS-PROT: E2AK3_HUMAN: 1065 Feature /change: R -> X Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_G957E(1); standard; MUTATION; PK Accession K01436 Systematic name g.57588G>A, c.2870G>A, r.2870g>a, p.Gly957Glu Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 57588 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3172 Feature /codon: ggg -> gag; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 957 Feature /change: G -> E Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_G986R(1); standard; MUTATION; PK Accession K01437 Systematic name g.57674G>A, c.2956G>A, r.2956g>a, p.Gly986Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 57674 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 3258 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 986 Feature /change: G -> R Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_I651T(1); standard; MUTATION; PK Accession K01438 Systematic name g.51939T>C, c.1952T>C, r.1952u>c, p.Ile651Thr Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51939 Feature /change: t -> c Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2254 Feature /codon: att -> act; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 651 Feature /change: I -> T Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_F593L(1); standard; MUTATION; PK Accession K01439 Systematic name g.48950T>C, c.1777T>C, r.1777u>c, p.Phe593Leu Description A point mutation in the exon 11 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 48950 Feature /change: t -> c Feature /genomic_region: exon; 11 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2079 Feature /codon: ttt -> ctt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 593 Feature /change: F -> L Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID EIF2AK3_R633W(1); standard; MUTATION; PK Accession K01440 Systematic name g.51884C>T, c.1897C>T, r.1897c>u, p.Arg633Trp Description A point mutation in the exon 12 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [3] RefCrossRef PUBMED; 19837917 RefAuthors Rubio-Cabezas, O., Patch, A. M., Minton, J. A., Flanagan, RefAuthors S. E., Edghill, E. L., Hussain, K., Balafrej, A., Deeb, RefAuthors A., Buchanan, C. R., Jefferson, I. G., Mutair, A., , ., RefAuthors Hattersley, A. T., Ellard, S. RefTitle Wolcott-Rallison syndrome is the most common genetic cause RefTitle of permanent neonatal diabetes in consanguineous families. RefLoc J Clin Endocrinol Metab 94:4162-70 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:2:88855259:88928094:-1: 51884 Feature /change: c -> t Feature /CpG; 1 Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_004836.5; GI:134304838; NM_004836.5: 2199 Feature /codon: cgg -> tgg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: E2AK3_HUMAN: 633 Feature /change: R -> W Feature /domain: PK Diagnosis WOLCOTT-RALLISON SYNDROME Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BUB1B_K1033K(1); standard; MUTATION; PK Accession K01442 Systematic name g.60697A>G, c.3099A>G, r.3099a>g, p.Lys1033Lys Description A point mutation in the exon 23 leading to an amino acid Description change in the PK domain Date 27-Sep-2011 (Rel. 3, Created) Date 27-Sep-2011 (Rel. 3, Last updated, Version 1) RefNumber [4] RefCrossRef PUBMED; 16182441 RefAuthors Hanks, S., Coleman, K., Summersgill, B., Messahel, B., RefAuthors Williamson, D., Pritchard-Jones, K., Strefford, J., RefAuthors Swansbury, J., Plaja, A., Shipley, J., Rahman, N. RefTitle Comparative genomic hybridization and BUB1B mutation RefTitle analyses in childhood cancers associated with mosaic RefTitle variegated aneuploidy syndrome. RefLoc Cancer Lett 239:234-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: Ensembl: chromosome:GRCh37:15:40452210:40514378:1: 60697 Feature /change: a -> g Feature /genomic_region: exon; 23 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: GenBank: NM_001211.5; GI:59814247; NM_001211.5: 3311 Feature /codon: aaa -> aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: BUB1B_HUMAN: 1033 Feature /change: K -> K Feature /domain: PK Diagnosis T CELL LEUKEMIA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_M509I(3); standard; MUTATION; TK Accession K01443 Systematic name g.65384G>T, c.1527G>T, r.1527g>u, p.Met509Ile Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A0997 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65384 Feature /change: g -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1659 Feature /codon: atg -> att; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 509 Feature /change: M -> I Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_L616I(2); standard; MUTATION; TK Accession K01444 Systematic name g.68220C>A, c.1846C>A, r.1846c>a, p.Leu616Ile Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1010 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68220 Feature /change: c -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1978 Feature /codon: ctc -> atc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 616 Feature /change: L -> I Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_R615P(2); standard; MUTATION; TK Accession K01445 Systematic name g.68218G>C, c.1844G>C, r.1844g>c, p.Arg615Pro Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A1172 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68218 Feature /change: g -> c Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1976 Feature /codon: cgt -> cct; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 615 Feature /change: R -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_W588X(3); standard; MUTATION; TK Accession K01446 Systematic name g.68138G>A, c.1764G>A, r.1764g>a, p.Trp588X Description A point mutation in the exon 18 leading to a premature stop Description codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (15-Nov-2006) to BTKbase. RefLoc Asghar Aghamohammadi; Children's Medical Center, 62 Gharib RefLoc St, 14194 Tehran, Iran; Tel +98 21 66935855; Fax +98 21 RefLoc 66428995; e-mail aghamohammadi@sina.tums.ac.ir RefNumber [2] RefAuthors Aghamohammadi, A., Parvaneh, N., Kanegana, H., Moin, M., RefAuthors Amirzargar, A. A., Farhoudi, A., Pourpak, Z., Movahedi, M., RefAuthors Gharagozlou, M., Rezaei, N., Futatani, T., Miyawaki, T. RefTitle Screening of the Bruton tyrosine kinase (BTK) gene mutations RefTitle in 13 Iranian patients with presumed X-linked RefTitle agammaglobulinemia RefLoc Iran J Allergy Asthma Immunol 3:175-179 (2004) RefNumber [3] RefCrossRef PUBMED; 16943681 RefAuthors Aghamohammadi, A., Fiorini, M., Moin, M., Parvaneh, N., RefAuthors Teimourian, S., Yeganeh, M., Goffi, F., Kanegane, H., RefAuthors Amirzargar, A. A., Pourpak, Z., Rezaei, N., Salavati, A., RefAuthors Pouladi, N., Abdollahzade, S., Notarangelo, L. D., RefAuthors Miyawaki, T., Plebani, A. RefTitle Clinical, immunological and molecular characteristics of RefTitle 37 iranian patients with X-linked agammaglobulinemia. RefLoc Int Arch Allergy Immunol:408-414 (2006) DB CrossRef BTKbase; A1200 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68138 Feature /change: g -> a Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1896 Feature /codon: tgg -> tga; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 588 Feature /change: W -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_P642R(2); standard; MUTATION; TK Accession K01447 Systematic name g.71537C>G, c.1925C>G, r.1925c>g, p.Pro642Arg Description A point mutation in the exon 19 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19904586 RefAuthors Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, RefAuthors W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., RefAuthors Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L. RefTitle Clinical characteristics and genotype-phenotype RefTitle correlation in 62 patients with X-linked RefTitle agammaglobulinemia. RefLoc J Clin Immunol:121-131 (2010) DB CrossRef BTKbase; A1347 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 71537 Feature /change: c -> g Feature /genomic_region: exon; 19 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 2057 Feature /codon: ccc -> cgc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 642 Feature /change: P -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // ID BTK_#V626-11(2); standard; MUTATION; TK Accession K01449 Systematic name g.68250delG, c.1876delG, r.1876delg, p.Val626fsX22 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1044 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68250 Feature /change: -g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2008 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 626 Feature /change: V -> YIPSCTVVGM RKQMSVPLSK FFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@G409X439(2); standard; MUTATION; TK Accession K01450 Systematic name g.64568_64569insA, c.1226_1227insA, r.1226_1227insa, Systematic name p.Thr410fsX29 Description A frame shift insertion mutation in the exon 14 leading to Description a premature stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1054 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 64569 Feature /change: +a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1359 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 409 Feature /change: G -> GDWTIWGSEV WEMERPVRRG HQDDQRRLHV X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_V546A(2); standard; MUTATION; TK Accession K01451 Systematic name g.67492T>C, c.1637T>C, r.1637u>c, p.Val546Ala Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A1152 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67492 Feature /change: t -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1769 Feature /codon: gtc -> gcc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 546 Feature /change: V -> A Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_Y461X(2); standard; MUTATION; TK Accession K01452 Systematic name g.65240delT, c.1383delT, r.1383delu, p.Tyr461X Description A deletion mutation in the exon 15 leading to a premature Description stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14974089 RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher, RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo, RefAuthors L. D. RefTitle BTK: 22 novel and 25 recurrent mutations in european RefTitle patients with X-linked agammaglobulinemia. RefLoc Hum Mutat 23:286 (2004) DB CrossRef BTKbase; A0968 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 65240 Feature /change: -t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1515 Feature /codon: tat -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 461 Feature /change: Y -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_G419R(2); standard; MUTATION; TK Accession K01453 Systematic name g.64597G>A, c.1255G>A, r.1255g>a, p.Gly419Arg Description A point mutation in the exon 14 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A1132 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64597 Feature /change: g -> a Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1387 Feature /codon: ggg -> agg; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 419 Feature /change: G -> R Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_V585F(2); standard; MUTATION; TK Accession K01454 Systematic name g.68127G>T, c.1753G>T, r.1753g>u, p.Val585Phe Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1004 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68127 Feature /change: g -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1885 Feature /codon: gtt -> ttt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 585 Feature /change: V -> F Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_@N526X530(2); standard; MUTATION; TK Accession K01455 Systematic name g.66789_66790insG, c.1575_1576insG, r.1575_1576insg, Systematic name p.Asn526fsX10 Description A frame shift insertion mutation in the exon 16 leading to Description a premature stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A1146 Feature dna; 1 Feature /rnalink: 2 Feature /name: insertion Feature /loc: EMBL: U78027: 66790 Feature /change: +g Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1708 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 526 Feature /change: N -> ELFGKRSRSC X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_K430X(2); standard; MUTATION; TK Accession K01456 Systematic name g.64630A>T, c.1288A>T, r.1288a>u, p.Lys430X Description A point mutation in the exon 14 leading to a premature stop Description codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19904586 RefAuthors Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, RefAuthors W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., RefAuthors Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L. RefTitle Clinical characteristics and genotype-phenotype RefTitle correlation in 62 patients with X-linked RefTitle agammaglobulinemia. RefLoc J Clin Immunol:121-131 (2010) DB CrossRef BTKbase; A1352 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 64630 Feature /change: a -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1420 Feature /codon: aag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 430 Feature /change: K -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#C633X648(2); standard; MUTATION; TK Accession K01457 Systematic name g.68272delG, c.1898delG, r.1898delg, p.Cys633fsX15 Description A frame shift deletion mutation in the exon 18 leading to a Description premature stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15661032 RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V., RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A. RefTitle Genetic analysis of patients with defects in early B-cell RefTitle development. RefLoc Immunol Rev 203:216-234 (2005) DB CrossRef BTKbase; A1179 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 68272 Feature /change: -g Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 2030 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 633 Feature /change: C -> FGMRKQMSVP LSKFFX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_L522P(2); standard; MUTATION; TK Accession K01458 Systematic name g.65422T>C, c.1565T>C, r.1565u>c, p.Leu522Pro Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19419768 RefAuthors Toth, B., Volokha, A., Mihas, A., Pac, M., Bernatowska, RefAuthors E., Kondratenko, I., Polyakov, A., Erdos, M., Pasic, S., RefAuthors Bataneant, M., Szaflarska, A., Mironska, K., Richter, D., RefAuthors Stavrik, K., Avcin, T., Marton, G., Nagy, K., Derfalvi, RefAuthors B., Szolnoky, M., Kalmar, A., Belevtsev, M., Guseva, M., RefAuthors Rugina, A., Krivan, G., Timar, L., Nyul, Z., Mosdosi, B., RefAuthors Kareva, L., Peova, S., Chernyshova, L., Gherghina, I., RefAuthors Serban, M., Conley, M. E., Notarangelo, L. D., Smith, C. RefAuthors I., van Dongen, J., van der Burg, M., Marodi, L. RefTitle Genetic and demographic features of X-linked RefTitle agammaglobulinemia in eastern and central europe: a cohort RefTitle study. RefLoc Mol Immunol:2140-2146 (2009) DB CrossRef BTKbase; A1393 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65422 Feature /change: t -> c Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1697 Feature /codon: ctg -> ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 522 Feature /change: L -> P Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#R544X555(2); standard; MUTATION; TK Accession K01459 Systematic name g.66844delA, c.1630delA, r.1630dela, p.Arg544fsX11 Description A frame shift deletion mutation in the exon 16 leading to a Description premature stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19419768 RefAuthors Toth, B., Volokha, A., Mihas, A., Pac, M., Bernatowska, RefAuthors E., Kondratenko, I., Polyakov, A., Erdos, M., Pasic, S., RefAuthors Bataneant, M., Szaflarska, A., Mironska, K., Richter, D., RefAuthors Stavrik, K., Avcin, T., Marton, G., Nagy, K., Derfalvi, RefAuthors B., Szolnoky, M., Kalmar, A., Belevtsev, M., Guseva, M., RefAuthors Rugina, A., Krivan, G., Timar, L., Nyul, Z., Mosdosi, B., RefAuthors Kareva, L., Peova, S., Chernyshova, L., Gherghina, I., RefAuthors Serban, M., Conley, M. E., Notarangelo, L. D., Smith, C. RefAuthors I., van Dongen, J., van der Burg, M., Marodi, L. RefTitle Genetic and demographic features of X-linked RefTitle agammaglobulinemia in eastern and central europe: a cohort RefTitle study. RefLoc Mol Immunol:2140-2146 (2009) DB CrossRef BTKbase; A1395 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 66844 Feature /change: -a Feature /genomic_region: exon; 16 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1762 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 544 Feature /change: R -> GMSWMMNTQA QX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 0; Patients: 1; Homozygotes: 0 // ID BTK_Y511N(2); standard; MUTATION; TK Accession K01460 Systematic name g.65388T>A, c.1531T>A, r.1531u>a, p.Tyr511Asn Description A point mutation in the exon 15 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (14-Mar-2003) to BTKbase. RefLoc M. C. Garcia Rodriguez, G. Fontan; Unidad de Inmunologia, RefLoc Hospital La Paz. Madrid, Spain; Tel 91 7277095; Fax 91 RefLoc 7277095; e-mail mcruzgarcia.hulp@salud.madrid.org DB CrossRef BTKbase; A1056 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65388 Feature /change: t -> a Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1663 Feature /codon: tac -> aac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 511 Feature /change: Y -> N Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_A582D(2); standard; MUTATION; TK Accession K01461 Systematic name g.67600C>A, c.1745C>A, r.1745c>a, p.Ala582Asp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 19904586 RefAuthors Lee, P. P., Chen, T. X., Jiang, L. P., Chan, K. W., Yang, RefAuthors W., Lee, B. W., Chiang, W. C., Chen, X. Y., Fok, S. F., RefAuthors Lee, T. L., Ho, M. H., Yang, X. Q., Lau, Y. L. RefTitle Clinical characteristics and genotype-phenotype RefTitle correlation in 62 patients with X-linked RefTitle agammaglobulinemia. RefLoc J Clin Immunol:121-131 (2010) DB CrossRef BTKbase; A1345 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67600 Feature /change: c -> a Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1877 Feature /codon: gct -> gat; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 Feature /change: A -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_#E407-1(2); standard; MUTATION; TK Accession K01462 Systematic name g.64561delG, c.1219delG, r.1219delg, p.Glu407fsX8 Description A frame shift deletion mutation in the exon 14 leading to a Description premature stop codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 18714539 RefAuthors Shabestari, M. S., Rezaei, N. RefTitle Asthma and allergic rhinitis in a patient with BTK RefTitle deficiency. RefLoc J Investig Allergol Clin Immunol:300-304 (2008) DB CrossRef BTKbase; A1308 Feature dna; 1 Feature /rnalink: 2 Feature /name: deletion Feature /loc: EMBL: U78027: 64561 Feature /change: -g Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: frameshift Feature /loc: EMBL: X58957; GI:547759; HSATK: 1351 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 407 Feature /change: E -> SWGLDNLGX Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // // // ID BTK_Q496X(2); standard; MUTATION; TK Accession K01465 Systematic name g.65343C>T, c.1486C>T, r.1486c>u, p.Gln496X Description A point mutation in the exon 15 leading to a premature stop Description codon in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefLoc Submitted (15-Nov-2006) to BTKbase. RefLoc Asghar Aghamohammadi; Children's Medical Center, 62 Gharib RefLoc St, 14194 Tehran, Iran; Tel +98 21 66935855; Fax +98 21 RefLoc 66428995; e-mail aghamohammadi@sina.tums.ac.ir RefNumber [2] RefCrossRef PUBMED; 16943681 RefAuthors Aghamohammadi, A., Fiorini, M., Moin, M., Parvaneh, N., RefAuthors Teimourian, S., Yeganeh, M., Goffi, F., Kanegane, H., RefAuthors Amirzargar, A. A., Pourpak, Z., Rezaei, N., Salavati, A., RefAuthors Pouladi, N., Abdollahzade, S., Notarangelo, L. D., RefAuthors Miyawaki, T., Plebani, A. RefTitle Clinical, immunological and molecular characteristics of RefTitle 37 iranian patients with X-linked agammaglobulinemia. RefLoc Int Arch Allergy Immunol:408-414 (2006) DB CrossRef BTKbase; A1209 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 65343 Feature /change: c -> t Feature /genomic_region: exon; 15 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: nonsense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1618 Feature /codon: cag -> tag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: out of frame translation; premature termination Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 496 Feature /change: Q -> X Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_P619L(2); standard; MUTATION; TK Accession K01466 Systematic name g.68230C>T, c.1856C>T, r.1856c>u, p.Pro619Leu Description A point mutation in the exon 18 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1011 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 68230 Feature /change: c -> t Feature /genomic_region: exon; 18 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1988 Feature /codon: cct -> ctt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 619 Feature /change: P -> L Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 // ID BTK_E567D(2); standard; MUTATION; TK Accession K01467 Systematic name g.67556A>C, c.1701A>C, r.1701a>c, p.Glu567Asp Description A point mutation in the exon 17 leading to an amino acid Description change in the TK domain Date 02-Dec-2011 (Rel. 2, Created) Date 02-Dec-2011 (Rel. 2, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 11742281 RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K., RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S., RefAuthors Miyawaki, T. RefTitle Clinical and mutational characteristics of X-linked RefTitle agammaglobulinemia and its carrier identified by flow RefTitle cytometric assessment combined with genetic analysis. RefLoc J Allergy Clin Immunol 108:1012-1020 (2001) DB CrossRef BTKbase; A1002 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /loc: EMBL: U78027: 67556 Feature /change: a -> c Feature /genomic_region: exon; 17 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL: X58957; GI:547759; HSATK: 1833 Feature /codon: gaa -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 567 Feature /change: E -> D Feature /domain: TK Diagnosis Classical XLA Occurrence Families: 1; Patients: 1; Homozygotes: 0 //