Database PTPN11base Version 1.00 File PTPN11base.txt Date 230404 Curator Ilkka Lappalainen Address Institute of Medical Technology, University of Tampere, Address POB 607, FIN-33101 Tampere, Finland Phone +358-3-215 7735 Fax +358-3-215 7710 Email ilkka.lappalainen@helsinki.fi URL http://www.uta.fi/imt/bioinfo/PTPN11base/ FTP ftp://protein.uta.fi/pub/PTPN11base.dat IDR factfile Gene PTPN11 Disease OMIM Sequence EMBL:; EMBL:; SWISSPROT: Q06124 Numbering start of the entry Reference Lappalainen et al., Predicting pathogenic effects on SH2 Reference domain structures, submitted. Funding Finnish acedemy; Instrumentariumin tiedesaatio; Sigrid Funding Juselius Foundation; European concerted action 'PL963007' Funding Tampere University Hospital Medical Research Fund Comments sequence entry reference in every entry; // ID T2I(1); standard; MUTATION; N_term Accession P0001 Systematic name g. ?, c.134C>T, p.T2I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 1 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 134 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 2 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome´ Comment -!-Symptoms: pulmonary valve stenosis // ID T42A(1); standard; MUTATION; SH2_1 Accession P0002 Systematic name g. ?, c.253A>G, p.T42A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; 12960218 RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 253 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 42 Feature /change: T -> A Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: atrioventricular septal defect // ID T42A(2); standard; MUTATION; SH2_1 Accession P0003 Systematic name g. ?, c.253A>G, p.T42A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; 12960218 RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 253 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 42 Feature /change: T -> A Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: hypertrophic cardiomyopathy // ID T42A(3); standard; MUTATION; SH2_1 Accession P0035 Systematic name g. ?, c.253A>G, p.T42A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; 12960218 RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 253 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 42 Feature /change: T -> A Feature /domain: SH2 Diagnosis Noonan syndrome // ID T42A(4); standard; MUTATION; SH2_1 Accession P0036 Systematic name g. ?, c.253A>G, p.T42A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; 12960218 RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 253 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 42 Feature /change: T -> A Feature /domain: SH2 Diagnosis Noonan syndrome // ID T42A(5); standard; MUTATION; SH2_1 Accession P0218 Systematic name g. ?, c.253A>G, p.T42A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; 12960218 RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 2 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 253 Feature /codon: aca -> gca; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 42 Feature /change: T -> A Feature /domain: SH2 Diagnosis Noonan syndrome // ID N58D(1); standard; MUTATION; SH2_1 Accession P0219 Systematic name g. ?, c.301A>G, p.N58D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 301 Feature /codon: aac>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 58 Feature /change: N -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID N58K(1); standard; MUTATION; SH2_1 Accession P0186 Systematic name g. ?, c.303C>G, p.N58K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 303 Feature /codon: aac>aag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 58 Feature /change: N -> K Feature /domain: SH2 Diagnosis Noonan syndrome // ID N58Y(1); standard; MUTATION; SH2_1 Accession P0087 Systematic name g. ?, c. 301A>T, p.N58Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 301 Feature /codon: aac>tac; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 58 Feature /change: N -> Y Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID G60A(1); standard; MUTATION; SH2_1 Accession P0037 Systematic name g. ?, c., p.G60A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> A Feature /domain: SH2 Diagnosis // ID G60A(2); standard; MUTATION; SH2_1 Accession P0038 Systematic name g. ?, c., p.G60A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt -> ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> A Feature /domain: SH2 Diagnosis // ID G60V(1); standard; MUTATION; SH2_1 Accession P0142 Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis MDS // ID G60V(2); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(3); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(4); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(5); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(6); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(7); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(8); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60V(10); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.308G>T, p.G60V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 308 Feature /codon: ggt>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> V Feature /domain: SH2 Diagnosis JMML // ID G60R(1); standard; MUTATION; SH2_1 Accession P0148 Systematic name g. ?, c.307G>C, p.G60R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 307 Feature /codon: ggt>cgt; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 60 Feature /change: G -> R Feature /domain: SH2 Diagnosis JMML // ID D61G(1); standard; MUTATION; SH2_1 Accession P0039 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(2); standard; MUTATION; SH2_1 Accession P0040 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(3); standard; MUTATION; SH2_1 Accession P0166 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(4); standard; MUTATION; SH2_1 Accession P0179 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(5); standard; MUTATION; SH2_1 Accession P0188 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(6); standard; MUTATION; SH2_1 Accession P0189 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(7); standard; MUTATION; SH2_1 Accession P0220 Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61G(8); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis JMML // ID D61G(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome/MPD // ID D61G(10); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>G, p.D61G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat -> ggt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> G Feature /domain: SH2 Diagnosis Noonan syndrome/MPD // ID D61V(1); standard; MUTATION; SH2_1 Accession P0088 Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID D61V(2); standard; MUTATION; SH2_1 Accession P0126 Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61V(3); standard; MUTATION; SH2_1 Accession P0143 Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis MDS // ID D61V(4); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61V(5); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61V(6); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61V(7); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61V(8); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61V(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 311A>T, p.D61V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 311 Feature /codon: gat>gtt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> V Feature /domain: SH2 Diagnosis JMML // ID D61Y(1); standard; MUTATION; SH2_1 Accession P0089 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID D61Y(2); standard; MUTATION; SH2_1 Accession P0121 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(3); standard; MUTATION; SH2_1 Accession P0122 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(4); standard; MUTATION; SH2_1 Accession P0123 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(5); standard; MUTATION; SH2_1 Accession P0124 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(6); standard; MUTATION; SH2_1 Accession P0125 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(7); standard; MUTATION; SH2_1 Accession P0149 Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(8); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(10); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(11); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(12); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61Y(13); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 310G>T, p.D61Y Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat>tat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> Y Feature /domain: SH2 Diagnosis JMML // ID D61N(1); standard; MUTATION; SH2_1 Accession P0041 Systematic name g. ?, c., p.D61N Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> N Feature /domain: SH2 Diagnosis Noonan syndrome // ID D61N(2); standard; MUTATION; SH2_1 Accession P0150 Systematic name g. ?, c.310G>A, p.D61N Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> N Feature /domain: SH2 Diagnosis JMML // ID D61N(3); standard; MUTATION; SH2_1 Accession P0187 Systematic name g. ?, c.310G>A, p.D61N Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 310 Feature /codon: gat -> aat; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 61 Feature /change: D -> N Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(1); standard; MUTATION; SH2_1 Accession P0004 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: T -> G Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis Comment -!-Symptoms: atrial septal defect // ID Y62D(2); standard; MUTATION; SH2_1 Accession P0042 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(3); standard; MUTATION; SH2_1 Accession P0043 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(4); standard; MUTATION; SH2_1 Accession P0114 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome/juvenile myelomonocytic leukemia // ID Y62D(5); standard; MUTATION; SH2_1 Accession P0190 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(6); standard; MUTATION; SH2_1 Accession P0208 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., Molinari, L., RefAuthors Yakub, I., Yu, F., Combes, A., Towbin, J., Craigen, W.J. and R. Gibbs RefTitle PTPN11 mutations in Noonan syndrome type I: detection of recurrent RefTitle mutations in exons 3 and 13 RefLoc Hum Mutat. 2002 20:298-304 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(7); standard; MUTATION; SH2_1 Accession P0221 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(8); standard; MUTATION; SH2_1 Accession P0222 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y62D(9); standard; MUTATION; SH2_1 Accession P0223 Systematic name g. ?, c.313T>G, p.Y62D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 313 Feature /codon: tac -> tag; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 62 Feature /change: Y -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(1); standard; MUTATION; SH2_1 Accession P0005 Systematic name g. ?, c.317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: atrioventricular septal defect // ID Y63C(2); standard; MUTATION; SH2_1 Accession P0006 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: atrial septal defect // ID Y63C(3); standard; MUTATION; SH2_1 Accession P0007 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis (familial) // ID Y63C(4); standard; MUTATION; SH2_1 Accession P0044 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(5); standard; MUTATION; SH2_1 Accession P0045 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(6); standard; MUTATION; SH2_1 Accession P0046 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(7); standard; MUTATION; SH2_1 Accession P0047 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(8); standard; MUTATION; SH2_1 Accession P0167 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(9); standard; MUTATION; SH2_1 Accession P0180 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(10); standard; MUTATION; SH2_1 Accession P0181 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(11); standard; MUTATION; SH2_1 Accession P0191 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(12); standard; MUTATION; SH2_1 Accession P0192 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(13); standard; MUTATION; SH2_1 Accession P0193 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(14); standard; MUTATION; SH2_1 Accession P0194 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(15); standard; MUTATION; SH2_1 Accession P0209 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., Molinari, L., RefAuthors Yakub, I., Yu, F., Combes, A., Towbin, J., Craigen, W.J. and R. Gibbs RefTitle PTPN11 mutations in Noonan syndrome type I: detection of recurrent RefTitle mutations in exons 3 and 13 RefLoc Hum Mutat. 2002 20:298-304 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(16); standard; MUTATION; SH2_1 Accession P0210 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., Molinari, L., RefAuthors Yakub, I., Yu, F., Combes, A., Towbin, J., Craigen, W.J. and R. Gibbs RefTitle PTPN11 mutations in Noonan syndrome type I: detection of recurrent RefTitle mutations in exons 3 and 13 RefLoc Hum Mutat. 2002 20:298-304 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(17); standard; MUTATION; SH2_1 Accession P0224 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID Y63C(18); standard; MUTATION; SH2_1 Accession P0225 Systematic name g. ?, c. 317A>G, p.Y63C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 317 Feature /codon: tat>tgt; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 63 Feature /change: Y -> C Feature /domain: SH2 Diagnosis Noonan syndrome // ID E69K(1); standard; MUTATION; SH2_1 Accession P0090 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E69K(2); standard; MUTATION; SH2_1 Accession P0091 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E69K(3); standard; MUTATION; SH2_1 Accession P0127 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E69K(4); standard; MUTATION; SH2_1 Accession P0128 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E69K(5); standard; MUTATION; SH2_1 Accession P0129 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E69K(6); standard; MUTATION; SH2_1 Accession P0144 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis MDS // ID E69K(7); standard; MUTATION; SH2_1 Accession P0151 Systematic name g. ?, c. 334G>A, p.E69K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag > aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E69Q(1); standard; MUTATION; SH2_1 Accession P0195 Systematic name g. ?, c.334G>C, p.E69Q Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag>cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> Q Feature /domain: SH2 Diagnosis Noonan syndrome // ID E69Q(2); standard; MUTATION; SH2_1 Accession P0226 Systematic name g. ?, c.334G>C, p.E69Q Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 334 Feature /codon: gag>cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 69 Feature /change: E -> Q Feature /domain: SH2 Diagnosis Noonan syndrome // ID F71K(1); standard; MUTATION; SH2_1 Accession P0147 Systematic name g. ?, c.340TTT>AAA, p.F71K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: Feature /change: ttt>aaa Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 340..342 Feature /codon: ttt > aaa Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 71 Feature /change: F -> K Feature /domain: SH2 Diagnosis AML // ID F71L(1); standard; MUTATION; SH2_1 Accession P0145 Systematic name g. ?, c.342T>A, p.F71L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 342 Feature /codon: ttt>tta; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 71 Feature /change: F -> L Feature /domain: SH2 Diagnosis MDS // ID F71L(2); standard; MUTATION; SH2_1 Accession P0196 Systematic name g. ?, c.342T>C, p.F71L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 342 Feature /codon: ttt>ttc; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 71 Feature /change: F -> L Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72G(1); standard; MUTATION; SH2_1 Accession P0008 Systematic name g. ?, c. 344C>G, p.A72G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> g; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 344 Feature /codon: gcc>ggc Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> G Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: hypertrophic cardiomyopathy Comment -!-Symptoms: mitral valve anomaly // ID A72G(2); standard; MUTATION; SH2_1 Accession P0048 Systematic name g. ?, c. 344C>G, p.A72G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> g; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 344 Feature /codon: gcc>ggc Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72G(3); standard; MUTATION; SH2_1 Accession P0169 Systematic name g. ?, c. 344C>G, p.A72G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> g; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 344 Feature /codon: gcc>ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72G(4); standard; MUTATION; SH2_1 Accession P0228 Systematic name g. ?, c. 344C>G, p.A72G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> g; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 344 Feature /codon: gcc>ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> G Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72G(5); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 344C>G, p.A72G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> g; 2 Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 344 Feature /codon: gcc>ggc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> G Feature /domain: SH2 Diagnosis Noonan syndrome - MPD // ID A72D(1); standard; MUTATION; SH2_1 Accession P0106 Systematic name g. ?, c.344C>A, p.A72D RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 344 Feature /codon: gcc>gac; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> D Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - Pre-B // ID A72S(1); standard; MUTATION; SH2_1 Accession P0168 Systematic name g. ?, c.343G>T, p.A72S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> S Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72S(2); standard; MUTATION; SH2_1 Accession P0182 Systematic name g. ?, c.343G>T, p.A72S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>tcc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> S Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72S(3); standard; MUTATION; SH2_1 Accession P0197 Systematic name g. ?, c.343G>A, p.A72S? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> A Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>Acc; 1? Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> S Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72S(4); standard; MUTATION; SH2_1 Accession P0198 Systematic name g. ?, c.343G>A, p.A72S? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> A Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>Acc; 1? Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> S Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72S(5); standard; MUTATION; SH2_1 Accession P0227 Systematic name g. ?, c.343G>A, p.A72S? G>T? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> A Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>Acc; 1? Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> S Feature /domain: SH2 Diagnosis Noonan syndrome // ID A72T(1); standard; MUTATION; SH2_1 Accession P0092 Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID A72T(2); standard; MUTATION; SH2_1 Accession P0130 Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(3); standard; MUTATION; SH2_1 Accession P0131 Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(4); standard; MUTATION; SH2_1 Accession P0152 Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(5); standard; MUTATION; SH2_1 Accession P0153 Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(6); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(7); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(8); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72T(10); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.343G>A, p.A72T Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 343 Feature /codon: gcc>acc; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> T Feature /domain: SH2 Diagnosis JMML // ID A72V(1); standard; MUTATION; SH2_1 Accession P0093 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID A72V(2); standard; MUTATION; SH2_1 Accession P0094 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID A72V(3); standard; MUTATION; SH2_1 Accession P0095 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID A72V(4); standard; MUTATION; SH2_1 Accession P0110 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis Acute monocytic leukemia // ID A72V(5); standard; MUTATION; SH2_1 Accession P0111 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis Acute monocytic leukemia // ID A72V(6); standard; MUTATION; SH2_1 Accession P0132 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID A72V(7); standard; MUTATION; SH2_1 Accession P0154 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID A72V(8); standard; MUTATION; SH2_1 Accession P0155 Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID A72V(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID A72V(10); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID A72V(11); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID A72V(12); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.344C>T, p.A72V Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /loc: EMBL:; X70766: 335 Feature /codon: gcc>gtc; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 72 Feature /change: A -> V Feature /domain: SH2 Diagnosis JMML // ID T73I(1); standard; MUTATION; SH2_1 Accession P0049 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome // ID T73I(2); standard; MUTATION; SH2_1 Accession P0115 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/juvenile myelomonocytic leukemia // ID T73I(3); standard; MUTATION; SH2_1 Accession P0116 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/juvenile myelomonocytic leukemia // ID T73I(4); standard; MUTATION; SH2_1 Accession P0117 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/juvenile myelomonocytic leukemia // ID T73I(5); standard; MUTATION; SH2_1 Accession P0118 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/juvenile myelomonocytic leukemia // ID T73I(6); standard; MUTATION; SH2_1 Accession P0119 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Growth retardation/pulmonic stenosis/juvenile myelomonocytic leukemia // ID T73I(7); standard; MUTATION; SH2_1 Accession P0156 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/JMML // ID T73I(8); standard; MUTATION; SH2_1 Accession P0183 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome // ID T73I(9); standard; MUTATION; SH2_1 Accession P0199 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome // ID T73I(10); standard; MUTATION; SH2_1 Accession P0229 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome // ID T73I(11); standard; MUTATION; SH2_1 Accession P0230 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome // ID T73I(12); standard; MUTATION; SH2_1 Accession P0231 Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome // ID T73I(13); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/MPD // ID T73I(14); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c. 347C>T, p.T73I Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 347 Feature /codon: act -> att; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 73 Feature /change: T -> I Feature /domain: SH2 Diagnosis Noonan syndrome/MPD // ID E76A(1); standard; MUTATION; SH2_1 Accession P0140 Systematic name g. ?, c.356A>C, p.E76A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> A Feature /domain: SH2 Diagnosis JMML // ID E76A(2); standard; MUTATION; SH2_1 Accession P0146 Systematic name g. ?, c.356A>C, p.E76A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> A Feature /domain: SH2 Diagnosis MDS // ID E76D(1); standard; MUTATION; SH2_1 Accession P0050 Systematic name g. ?, c. 357G>C, p.E76D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 357 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID E76D(2); standard; MUTATION; SH2_1 Accession P0170 Systematic name g. ?, c. 357G>C, p.E76D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 357 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID E76D(3); standard; MUTATION; SH2_1 Accession P0200 Systematic name g. ?, c. 357G>T?, p.E76D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t? Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 357 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID E76D(4); standard; MUTATION; SH2_1 Accession P0232 Systematic name g. ?, c. 357G>T?, p.E76D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t? Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 357 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID E76G(1); standard; MUTATION; SH2_1 Accession P0096 Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E76G(2); standard; MUTATION; SH2_1 Accession P0109 Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - Bi-lineage // ID E76G(3); standard; MUTATION; SH2_1 Accession P0139 Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(4); standard; MUTATION; SH2_1 Accession P0161 Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(5); standard; MUTATION; SH2_1 Accession P0162 Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(6); standard; MUTATION; SH2_1 Accession P0163 Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(7); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(8); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(9); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(10); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(11); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76G(12); standard; MUTATION; SH2_1 Accession Systematic name g. ?, c.356A>G, p.E76G Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>ggg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> G Feature /domain: SH2 Diagnosis JMML // ID E76K(1); standard; MUTATION; SH2_1 Accession P0097 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E76K(2); standard; MUTATION; SH2_1 Accession P0098 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E76K(3); standard; MUTATION; SH2_1 Accession P0099 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E76K(4); standard; MUTATION; SH2_1 Accession P0107 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - Pre-B // ID E76K(5); standard; MUTATION; SH2_1? Accession P0112 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis Acute monocytic leukemia // ID E76K(6); standard; MUTATION; SH2_1? Accession P0133 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(7); standard; MUTATION; SH2_1? Accession P0134 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(8); standard; MUTATION; SH2_1? Accession P0135 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(9); standard; MUTATION; SH2_1? Accession P0136 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(10); standard; MUTATION; SH2_1? Accession P0137 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(11); standard; MUTATION; SH2_1? Accession P0157 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(12); standard; MUTATION; SH2_1? Accession P0158 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(13); standard; MUTATION; SH2_1? Accession P0159 Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(14); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(15); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(16); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(17); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(18); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(19); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(20); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(21); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(22); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(23); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(24); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(25); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(26); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(27); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(28); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(29); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(30); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(31); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(32); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76K(33); standard; MUTATION; SH2_1? Accession Systematic name g. ?, c.355G>A, p.E76K Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>aag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> K Feature /domain: SH2 Diagnosis JMML // ID E76Q(1); standard; MUTATION; SH2_1 Accession P0100 Systematic name g. ?, c.355G>C, p.E76Q Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag>cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> Q Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E76Q(2); standard; MUTATION; SH2_1 Accession P0101 Systematic name g. ?, c.355G>C, p.E76Q Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag > cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> Q Feature /domain: SH2 Diagnosis Acute lymphoclastic leukemia - common // ID E76Q(3); standard; MUTATION; SH2_1 Accession P0160 Systematic name g. ?, c.355G>C, p.E76Q Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 355 Feature /codon: gag > cag; 1 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> Q Feature /domain: SH2 Diagnosis JMML // ID E76V(1); standard; MUTATION; SH2_1 Accession P0138 Systematic name g. ?, c.356A>T, p.E76V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 356 Feature /codon: gag>gtg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 76 Feature /change: E -> V Feature /domain: SH2 Diagnosis JMML // ID Q79P(1); standard; MUTATION; SH2_1 Accession P0009 Systematic name g. ?, c. 365A>C, p.Q79P Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: A -> C Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 365 Feature /codon: cag>ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> P Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID Q79P(2); standard; MUTATION; SH2_1 Accession P0010 Systematic name g. ?, c. 365A>C, p.Q79P Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: A -> C Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 365 Feature /codon: cag>ccg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> P Feature /domain: SH2 Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID Q79R(1); standard; MUTATION; SH2_1 Accession P0051 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(2); standard; MUTATION; SH2_1 Accession P0052 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(3); standard; MUTATION; SH2_1 Accession P0053 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(4); standard; MUTATION; SH2_1 Accession P0054 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(5); standard; MUTATION; SH2_1 Accession P0055 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(6); standard; MUTATION; SH2_1 Accession P0171 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(7); standard; MUTATION; SH2_1 Accession P0172 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(8); standard; MUTATION; SH2_1 Accession P0201 Systematic name g. ?, c. 368A>G, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(9); standard; MUTATION; SH2_1 Accession P0213 Systematic name g. ?, c. 368A>G?, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12529711 RefAuthors Schollen, E., Matthijs, G., Gewillig, M., Fryns, J.P. and E. Legius RefTitle PTPN11 mutation in a large family with Noonan syndrome and dizygous RefTitle twinning RefLoc Eur J Hum Genet. 2003 11:85-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(10); standard; MUTATION; SH2_1 Accession P0233 Systematic name g. ?, c. 368A>G?, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID Q79R(11); standard; MUTATION; SH2_1 Accession P0234 Systematic name g. ?, c. 368A>G?, p.Q79R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 368 Feature /codon: cag -> cgg; 2 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 79 Feature /change: Q -> R Feature /domain: SH2 Diagnosis Noonan syndrome // ID D106A(1); standard; MUTATION; linker_1 Accession P0011 Systematic name g. ?, c.446A>C, p.D106A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 446 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 106 Feature /change: D -> A Feature /domain: linker_1 Diagnosis Noonan syndrome Comment -!-Symptoms: atrial septal defect // ID D106A(2); standard; MUTATION; linker_1 Accession P0056 Systematic name g. ?, c.446A>C, p.D106A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 446 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 106 Feature /change: D -> A Feature /domain: linker_1 Diagnosis Noonan syndrome // ID D106A(3); standard; MUTATION; linker_1 Accession P0057 Systematic name g. ?, c.446A>C, p.D106A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 446 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 106 Feature /change: D -> A Feature /domain: linker_1 Diagnosis Noonan syndrome // ID D106A(4); standard; MUTATION; linker_1 Accession P0058 Systematic name g. ?, c.446A>C, p.D106A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 446 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 106 Feature /change: D -> A Feature /domain: linker_1 Diagnosis Noonan syndrome // ID D106A(5); standard; MUTATION; linker_1 Accession Systematic name g. ?, c.446A>C, p.D106A Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Jafakov T., Ferimazova N. and E. Reichenberger RefTitle Noonan-like Syndrome mutations in PTPN11 in patients RefTitle diagnosed with cherubism RefLoc Clinical Genetics 68: 190-1 (2005) RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 446 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 106 Feature /change: D -> A Feature /domain: linker_1 Diagnosis Noonan syndrome // ID E111A(1); standard; MUTATION; linker_1 Accession P0235 Systematic name g. ?, c.458A>C, p.E111A Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature /genomic_region: exon; 3 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 458 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 111 Feature /change: E -> A Feature /domain: linker_1 Diagnosis Noonan syndrome // ID E139D(1); standard; MUTATION; SH2_2 Accession P0059 Systematic name g. ?, c. 546G>C, p.E139D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 546 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 139 Feature /change: E -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID E139D(2); standard; MUTATION; SH2_2 Accession P0060 Systematic name g. ?, c. 546G>T, p.E139D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> t Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 546 Feature /codon: gag -> gat; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 139 Feature /change: E -> D Feature /domain: SH2 Diagnosis Noonan syndrome // ID E139D(3); standard; MUTATION; SH2_2 Accession P0164 Systematic name g. ?, c. 546G>C, p.E139D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 4 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 546 Feature /codon: gag -> gac; 3 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 139 Feature /change: E -> D Feature /domain: SH2 Diagnosis JMML // ID Q256R(1); standard; MUTATION; linker_2 Accession P0202 Systematic name g. ?, c. 896A>G, p.Q256R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 896 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 256 Feature /change: Q -> R Feature /domain: linker_2 Diagnosis Noonan syndrome // ID Y279C(1); standard; MUTATION; PTP Accession P0012 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: PVS // ID Y279C(2); standard; MUTATION; PTP Accession P0013 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: hypertrophic cardiomyopathy // ID Y279C(3); standard; MUTATION; PTP Accession P0014 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: hypertrophic cardiomyopathy // ID Y279C(4); standard; MUTATION; PTP Accession P0015 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: hypertrophic cardiomyopathy // ID Y279C(5); standard; MUTATION; PTP Accession P0016 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: arythmia // ID Y279C(6); standard; MUTATION; PTP Accession P0061 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis Noonan syndrome // ID Y279C(7); standard; MUTATION; PTP Accession P0215 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161596 RefAuthors Legius, E., Schrander-Stumpel, C., Schollen, E., Pulles-Heintzberger, RefAuthors C., Gewillig, M. and J.P. Fryns RefTitle PTPN11 mutations in LEOPARD syndrome RefLoc J Med Genet. 2002 39:571-4. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis LEOPARD syndrome // ID Y279C(8); standard; MUTATION; PTP Accession P0216 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161596 RefAuthors Legius, E., Schrander-Stumpel, C., Schollen, E., Pulles-Heintzberger, RefAuthors C., Gewillig, M. and J.P. Fryns RefTitle PTPN11 mutations in LEOPARD syndrome RefLoc J Med Genet. 2002 39:571-4. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis LEOPARD syndrome // ID Y279C(9); standard; MUTATION; PTP Accession P0217 Systematic name g. ?, c. 965A>G, p.Y279C Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14991917 RefAuthors Digilio, M.C., Pacileo, G., Sarkozy, A., Limongelli, G., Conti, E., RefAuthors Cerrato, F., Marino, B., Pizzuti, A., Calabro, R. and B. Dallapiccola RefTitle Familial aggregation of genetically heterogeneous hypertrophic RefTitle cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation RefTitle and his nonsyndromic father lacking PTPN11 mutations. RefLoc Birth Defects Res Part A Clin Mol Teratol. 2004 70:95-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 965 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 279 Feature /change: Y -> C Feature /domain: PTP Diagnosis LEOPARD syndrome // ID I282V(1); standard; MUTATION; PTP Accession P0062 Systematic name g. ?, c. 973A>G, p.I282V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 973 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 282 Feature /change: I -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID I282V(2); standard; MUTATION; PTP Accession P0173 Systematic name g. ?, c. 973A>G, p.I282V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 973 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 282 Feature /change: I -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID I282V(3); standard; MUTATION; PTP Accession P0203 Systematic name g. ?, c. 973A>G, p.I282V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 973 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 282 Feature /change: I -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID F285L(1); standard; MUTATION; PTP Accession P0063 Systematic name g. ?, c. 982T>C, p.F285L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 982 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 285 Feature /change: F -> L Feature /domain: PTP Diagnosis Noonan syndrome // ID F285L(2); standard; MUTATION; PTP Accession P0236 Systematic name g. ?, c. 982T>G?, p.F285L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c? Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 982 ? Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 285 Feature /change: F -> L Feature /domain: PTP Diagnosis Noonan syndrome // ID F285L(3); standard; MUTATION; PTP Accession Systematic name g. ?, c. 982T>C, p.F285L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Jafakov T., Ferimazova N. and E. Reichenberger RefTitle Noonan-like Syndrome mutations in PTPN11 in patients RefTitle diagnosed with cherubism RefLoc Clinical Genetics 68: 190-1 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature /genomic_region: exon; 7 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 982 ? Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 285 Feature /change: F -> L Feature /domain: PTP Diagnosis Noonan syndrome // ID F285S(1); standard; MUTATION; PTP Accession P0064 Systematic name g. ?, c. 983T>C, p.F285S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 983 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 285 Feature /change: F -> S Feature /domain: PTP Diagnosis Noonan syndrome // ID F285S(2); standard; MUTATION; PTP Accession P0184 Systematic name g. ?, c. 983T>C, p.F285S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 983 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 285 Feature /change: F -> S Feature /domain: PTP Diagnosis Noonan syndrome // ID F285S(3); standard; MUTATION; PTP Accession P0237 Systematic name g. ?, c. 983T>C, p.F285S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 983 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 285 Feature /change: F -> S Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(1); standard; MUTATION; PTP Accession P0017 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID N308D(2); standard; MUTATION; PTP Accession P0018 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID N308D(3); standard; MUTATION; PTP Accession P0019 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID N308D(4); standard; MUTATION; PTP Accession P0020 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID N308D(5); standard; MUTATION; PTP Accession P0021 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis // ID N308D(6); standard; MUTATION; PTP Accession P0022 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis (familial) // ID N308D(7); standard; MUTATION; PTP Accession P0023 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis (familial) // ID N308D(8); standard; MUTATION; PTP Accession P0065 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(9); standard; MUTATION; PTP Accession P0066 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(10); standard; MUTATION; PTP Accession P0067 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(11); standard; MUTATION; PTP Accession P0068 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(12); standard; MUTATION; PTP Accession P0069 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(13); standard; MUTATION; PTP Accession P0070 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(14); standard; MUTATION; PTP Accession P0071 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(15); standard; MUTATION; PTP Accession P0072 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(16); standard; MUTATION; PTP Accession P0073 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(17); standard; MUTATION; PTP Accession P0074 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(18); standard; MUTATION; PTP Accession P0075 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(19); standard; MUTATION; PTP Accession P0076 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(20); standard; MUTATION; PTP Accession P0077 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(21); standard; MUTATION; PTP Accession P0078 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(22); standard; MUTATION; PTP Accession P0079 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(23); standard; MUTATION; PTP Accession P0080 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(24); standard; MUTATION; PTP Accession P0081 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(25); standard; MUTATION; PTP Accession P0174 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(26); standard; MUTATION; PTP Accession P0175 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(27); standard; MUTATION; PTP Accession P0176 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(28); standard; MUTATION; PTP Accession P0177 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(29); standard; MUTATION; PTP Accession P0185 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12161469 RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., RefAuthors Kosaki, R., Nagai, T., Hasegawa, Y. and T. Ogata RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations RefTitle in seven Japanese patients with Noonan syndrome. RefLoc Clin Endocrinol Metab. 2002 87:3529-33. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(30); standard; MUTATION; PTP Accession P0204 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(31); standard; MUTATION; PTP Accession P0205 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(32); standard; MUTATION; PTP Accession P0206 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(33); standard; MUTATION; PTP Accession P0207 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12634870 RefAuthors Musante, L., Kehl, H.G., Majewski, F., Meinecke, P., Schweiger, S., RefAuthors Gillessen-Kaesbach, G., Wieczorek, D., Hinkel, G.K., Tinschert, S., RefAuthors Hoeltzenbein, M., Ropers, H.H., and V.M. Kalscheuer RefTitle PSpectrum of mutations in PTPN11 and genotype-phenotype correlation RefTitle in 96 patients with Noonan syndrome and five patients with cardio-facio RefTitle -cutaneous syndrome. RefLoc Eur J Hum Genet. 2003 11:201-6. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(34); standard; MUTATION; PTP Accession P0238 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(35); standard; MUTATION; PTP Accession P0239 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(36); standard; MUTATION; PTP Accession P0240 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(37); standard; MUTATION; PTP Accession P0241 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(38); standard; MUTATION; PTP Accession P0242 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(39); standard; MUTATION; PTP Accession P0243 Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308D(40); standard; MUTATION; PTP Accession Systematic name g. ?, c. 1051A>G, p.N308D Original code Description Date 28-Frb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Matsubara K., Yabe, H., Ogata, T., Yoshida, R. and RefAuthors T. Fukaya RefTitle Acute Myeloid Leukemia in an Adult Noonan Syndrome Patient With RefTitle PTPN11 Mutation RefLoc American Journal of Hematology 79:171-3 (2005) RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1051 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> D Feature /domain: PTP Diagnosis Noonan syndrome // ID N308S(1); standard; MUTATION; PTP Accession P0024 Systematic name g. ?, c. 1052A>G, p.N308S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1052 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> S Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis (familial) // ID N308S(2); standard; MUTATION; PTP Accession P0025 Systematic name g. ?, c. 1052A>G, p.N308S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1052 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> S Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: pulmonary valve stenosis (familial) // ID N308S(3); standard; MUTATION; PTP Accession P0082 Systematic name g. ?, c. 1052A>G, p.N308S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1052 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> S Feature /domain: PTP Diagnosis Noonan-like/multiple giant-cell lesion // ID N308S(4); standard; MUTATION; PTP Accession P0083 Systematic name g. ?, c. 1052A>G, p.N308S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1052 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> S Feature /domain: PTP Diagnosis Noonan-like/multiple giant-cell lesion // ID N308S(5); standard; MUTATION; PTP Accession P0244 Systematic name g. ?, c. 1052A>G, p.N308S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1052 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> S Feature /domain: PTP Diagnosis Noonan syndrome // ID N308S(6); standard; MUTATION; PTP Accession P0245 Systematic name g. ?, c. 1052A>G, p.N308S Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1052 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 308 Feature /change: N -> S Feature /domain: PTP Diagnosis Noonan syndrome // ID I309V(1); standard; MUTATION; PTP? Accession P0084 Systematic name g. ?, c. 1054A>G, p.I309V Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 8 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1054 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 309 Feature /change: I -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID T468M(1); standard; MUTATION; PTP Accession P0026 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: hypertrophic cardiomuopathy // ID T468M(2); standard; MUTATION; PTP Accession P0027 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: hypertrophic cardiomuopathy // ID T468M(3); standard; MUTATION; PTP Accession P0028 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: atrioventricular septal defect // ID T468M(4); standard; MUTATION; PTP Accession P0029 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: arrhytmia // ID T468M(5); standard; MUTATION; PTP Accession P0030 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME Comment -!-Symptoms: familial // ID T468M(6); standard; MUTATION; PTP Accession P0031 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis multiple lentigines/LEOPARD SYNDROME // ID T468M(7); standard; MUTATION; PTP Accession P0246 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis Noonan syndrome // ID T468M(8); standard; MUTATION; PTP Accession P0247 Systematic name g. ?, c. 1532C>T, p.T468M Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 12 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1532 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 468 Feature /change: T -> M Feature /domain: PTP Diagnosis Noonan syndrome // ID P491L(1); standard; MUTATION; PTP Accession P0102 Systematic name g. ?, c.1601C>T, p.P491L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1601 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 491 Feature /change: P -> L Feature /domain: PTP Diagnosis Acute lymphoclastic leukemia - common // ID P491L(2); standard; MUTATION; PTP Accession P0108 Systematic name g. ?, c.1601C>T, p.P491L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1601 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 491 Feature /change: P -> L Feature /domain: PTP Diagnosis Acute lymphoclastic leukemia - pre-B // ID P491S(1); standard; MUTATION; PTP Accession P0103 Systematic name g. ?, c.1600C>T, p.P491L Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1600 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 491 Feature /change: P -> S Feature /domain: PTP Diagnosis Acute lymphoclastic leukemia - common // ID R501K(1); standard; MUTATION; PTP Accession P0085 Systematic name g. ?, c. 1631G>A, p.R501K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1631 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 501 Feature /change: R -> K Feature /domain: PTP Diagnosis Noonan syndrome // ID S502P(1); standard; MUTATION; PTP Accession P0104 Systematic name g. ?, c.1633T>C, p.S502P Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: t -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1633 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 502 Feature /change: S -> P Feature /domain: PTP Diagnosis Acute lymphoclastic leukemia - common // ID S502T(1); standard; MUTATION; PTP Accession P0211 Systematic name g. ?, c.1633? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., Molinari, L., RefAuthors Yakub, I., Yu, F., Combes, A., Towbin, J., Craigen, W.J. and R. Gibbs RefTitle PTPN11 mutations in Noonan syndrome type I: detection of recurrent RefTitle mutations in exons 3 and 13 RefLoc Hum Mutat. 2002 20:298-304 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: ? Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1633 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 502 Feature /change: S -> T Feature /domain: PTP Diagnosis Noonan syndrome // ID S502T(2); standard; MUTATION; PTP Accession P0212 Systematic name g. ?, c.1633? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T., Molinari, L., RefAuthors Yakub, I., Yu, F., Combes, A., Towbin, J., Craigen, W.J. and R. Gibbs RefTitle PTPN11 mutations in Noonan syndrome type I: detection of recurrent RefTitle mutations in exons 3 and 13 RefLoc Hum Mutat. 2002 20:298-304 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: ? Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1633 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 502 Feature /change: S -> T Feature /domain: PTP Diagnosis Noonan syndrome // ID G503A(1); standard; MUTATION; PTP Accession P0141? Systematic name g. ?, c. 1637G>C, p. G503R? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Niemeyer, C.M., Fragale, A., Song, X., RefAuthors Buechner, J., Jung, A., Hählen, K., Hasle, H., RefAuthors Licht, J.D. and B.D., Gelb RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic RefTitle leukemia, myelodysplastic syndromes and acute myeloid RefTitle leukemia RefLoc Nature Genetics (2003) 34:148-50 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R? Feature /domain: PTP Diagnosis JMML // ID G503A(2); standard; MUTATION; PTP Accession Systematic name g. ?, c. 1637G>C, p. G503R? Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R? Feature /domain: PTP Diagnosis JMML // ID G503A(3); standard; MUTATION; PTP Accession Systematic name g. ?, c. 1637G>C, p. G503R? Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R? Feature /domain: PTP Diagnosis JMML // ID G503A(4); standard; MUTATION; PTP Accession Systematic name g. ?, c. 1637G>C, p. G503R? Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R? Feature /domain: PTP Diagnosis JMML // ID G503A(5); standard; MUTATION; PTP Accession Systematic name g. ?, c. 1637G>C, p. G503R? Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R? Feature /domain: PTP Diagnosis JMML // ID G503A(6); standard; MUTATION; PTP Accession Systematic name g. ?, c. 1637G>C, p. G503R? Original code Description Date 28-Feb-2007 (Rel. 1, Created) Date 28-Feb-2007 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Kratz, C.P., Niemeyer, C.M., Castleberry, R.P., Cetin, RefAuthors M., Bergsträsser, E., Emanuel, P.D., Hasle, H., Kardos, RefAuthors G., Klein, C., Stary, J., Trebo, M., Zecca, M., Gelb, RefAuthors B.D., Tartaglia, M. and L. Loh RefTitle The mutational spectrum of PTPN11 in juvenile RefTitle myelomonocytic leukemia and Noonan RefTitle syndrome/myeloproliferative disease RefLoc Blood 106: 2183-5 (2005) Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R? Feature /domain: PTP Diagnosis JMML // ID G503R(1); standard; MUTATION; PTP Accession P0032 Systematic name g. ?, c. 1637G>C, p. G503R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: familial // ID G503R(2); standard; MUTATION; PTP Accession P0120 Systematic name g. ?, c. 1637G>C, p. G503R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R Feature /domain: PTP Diagnosis growth retardation, pulmonic stenosis/JMML // ID G503R(3); standard; MUTATION; PTP Accession P0248 Systematic name g. ?, c. 1637G>C, p. G503R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R Feature /domain: PTP Diagnosis Noonan syndrome // ID G503R(4); standard; MUTATION; PTP Accession P0249 Systematic name g. ?, c. 1637G>C, p. G503R Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 503 Feature /change: G -> R Feature /domain: PTP Diagnosis Noonan syndrome // ID M504V(1); standard; MUTATION; PTP Accession P0033 Systematic name g. ?, c. 1639G>C, p. M504V? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 504 Feature /change: M -> V Feature /domain: PTP Diagnosis Noonan syndrome Comment -!-Symptoms: familial // ID M504V(2); standard; MUTATION; PTP Accession P0086 Systematic name g. ?, c. 1639G>C, p. M504V? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., RefAuthors Musat, D.L., van der Burgt, I., Brunner, H.G., RefAuthors Bertola, D.R., Crosby, A., Ion, A., Kucherlapati, RefAuthors R.S., Jeffery, S., Patton, M.A. and B.D., Gelb RefTitle PTPN11 mutations in Noonan syndrome: molecular RefTitle spectrum, genotype-phenotype correlation, and RefTitle phenotypic heterogeneity RefLoc Am J Hum Genet. 2002 70:1555-63 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> c Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1637 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 504 Feature /change: M -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID M504V(3); standard; MUTATION; PTP Accession P0178 Systematic name g. ?, c. 1639a>g, p. M504V? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12325025 RefAuthors Tartaglia, M., Mehler, E.L., Goldberg, R., Zampino, G., Brunner, H.G., RefAuthors Kremer, H., van der Burgt, I., Crosby, A.H., Ion, A., Jeffery, S., RefAuthros Kalidas, K., Patton, M.A., Kucherlapati, R.S. and B.D. Gelb RefTitle Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, RefTitle cause Noonan syndrome. RefLoc Nat Genet. 2001 29:465-8. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1639 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 504 Feature /change: M -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID M504V(4); standard; MUTATION; PTP Accession P0250 Systematic name g. ?, c. 1639a>g, p. M504V? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1639 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 504 Feature /change: M -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID M504V(5); standard; MUTATION; PTP Accession P0251 Systematic name g. ?, c. 1639a>g, p. M504V? Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 15001945 RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse, K., Kress, W., RefAuthors Tietze, H.U., Doerr, H.G., Hofbeck, M., Singer, H., Reis, A. and A Rauch RefTitle Genotype-phenotype correlations in Noonan syndrome RefLoc J Pediatr. 2004 144:368-74. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> g Feature /genomic_region: exon; 13 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1639 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 504 Feature /change: M -> V Feature /domain: PTP Diagnosis Noonan syndrome // ID G506P(1); standard; MUTATION; PTP Accession P0165 Systematic name g. ?, c. 1646A>C, p. G506P Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14644997 RefAuthors Loh, M.L., Vattikuti, S., Schubbert, S., Reynolds, M.G., Carlson, E., RefAuthors Lieuw, K.H., Cheng, J.W., Lee, C.M., Stokoe, D., Bonifas, J.M., Curtiss, RefAuthors N.P., Gotlib, J., Meshinchi, S., Le Beau, M.M., Emanuel, P.D., and RefAuthors K.M. Shannon RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. RefLoc Blood 2004 103:2325-31. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1646 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 506 Feature /change: G -> P Feature /domain: PTP Diagnosis Noonan syndrome/JMML // ID Q506P(1); standard; MUTATION; PTP Accession P0214 Systematic name g. ?, c. 1646A>C, p. Q506P Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 14961557 RefAuthors Conti, E., Dottorini, T., Sarkozy, A., Tiller, G.E., Esposito, G., RefAuthors Pizzuti, A. and B. Dallapiccola RefTitle A novel PTPN11 mutation in LEOPARD syndrome RefLoc Hum Mutat. 2003 21:654. RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: a -> c Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1646 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 506 Feature /change: G -> P Feature /domain: PTP Diagnosis LEOPARD syndrome // ID T507K(1); standard; MUTATION; PTP Accession P0113 Systematic name g. ?, c.1649C>A, p.T507K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: g -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1649 Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 507 Feature /change: T -> K Feature /domain: PTP Diagnosis Acute monocytic leukemia // ID Q510K(1); standard; MUTATION; PTP Accession P0105 Systematic name g. ?, c.1657C>A, p.Q510K Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu, V., RefAuthors Iavarone, I., Spinelli, M., Palmi, C., Carta, C., Pession, A., RefAuthors Arico, M., Masera, G., Basso, G., Sorcini, M., Gelb, B.D., RefAuthors and A. Biondi RefTitle Genetic evidence for lineage- and differentiation stage-related RefTitle contribution of somatic PTPN11 mutations to leukemogenesis in RefTitle childhood acute leukemia. RefLoc Blood DOI 10.1182 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> a Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1657 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 510 Feature /change: Q -> K Feature /domain: PTP Diagnosis Acute lymphoclastic leukemia - common // ID L560F(1); standard; MUTATION; C_term Accession P0034 Systematic name g. ?, c. 1807C>T, p. L560F Original code Description Date 23-Apr-2004 (Rel. 1, Created) Date 23-Apr-2004 (Rel. 1, Last updated, Version 1) RefNumber [1] RefCrossRef PUBMED; 12960218 RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M.C., RefAuthors Grifone, N., Tandoi, C., Fazio, V.M., Di Ciommo, V., RefAuthors Marino, B., Pizzuti, A. and B., Dallapiccola RefTitle Correlation between PTPN11 gene mutations and congenital RefTitle heart defects in Noonan and LEOPARD syndromes RefLoc J Med Genet. 2003 40:704-8 RefNumber [2] RefCrossRef PUBMED; RefAuthors Lappalainen, I., Shen, B. and M. Vihinen RefTitle Predicting pathogenic effects on SH2 domain structures RefLoc submitted Feature dna; 1 Feature /rnalink: 2 Feature /name: point Feature /change: c -> t Feature /genomic_region: exon; 14 Feature rna; 2 Feature /dnalink: 1 Feature /aalink: 3 Feature /name: missense Feature /loc: EMBL:; X70766: 1807 Feature /codon: Feature aa; 3 Feature /rnalink: 2 Feature /name: aa substitution Feature /loc: SWISS-PROT: Q06124; PTNB_HUMAN: 560 Feature /change: F -> L Feature /domain: C_term Diagnosis Noonan syndrome Comment -!-Symptoms: hypertrophic cardiomyopathy //