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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06124: Variant p.Tyr63Cys

Tyrosine-protein phosphatase non-receptor type 11
Gene: PTPN11
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Variant information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Tyrosine (Y) to Cysteine (C) at position 63 (Y63C, p.Tyr63Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In NS1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 593 The length of the canonical sequence.
Location on the sequence: help LSVRRNGAVTHIKIQNTGDY Y DLYGGEKFATLAELVQYYME The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQYYME

Mouse                         LSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQYYME

Rat                           LSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQYYME

Chicken                       LSVRRTGAVTHIKIQNTGDYYDLYGGEKFATLAELVQYYME
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 2 – 593 Tyrosine-protein phosphatase non-receptor type 11
Domain 6 – 102 SH2 1
Modified residue 62 – 62 Phosphotyrosine
Modified residue 66 – 66 Phosphotyrosine
Beta strand 63 – 65



Literature citations
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Tartaglia M.; Mehler E.L.; Goldberg R.; Zampino G.; Brunner H.G.; Kremer H.; van der Burgt I.; Crosby A.H.; Ion A.; Jeffery S.; Kalidas K.; Patton M.A.; Kucherlapati R.S.; Gelb B.D.;
Nat. Genet. 29:465-468(2001)
Cited for: VARIANTS NS1 GLY-61; CYS-63; GLY-72; SER-72; ASP-76; ARG-79; VAL-282; ASP-308 AND VAL-504; PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M.; Kalidas K.; Shaw A.; Song X.; Musat D.L.; van der Burgt I.; Brunner H.G.; Bertola D.R.; Crosby A.H.; Ion A.; Kucherlapati R.S.; Jeffery S.; Patton M.A.; Gelb B.D.;
Am. J. Hum. Genet. 70:1555-1563(2002)
Cited for: VARIANTS NS1 ALA-42; ALA-60; ASN-61; GLY-61; ASP-62; CYS-63; GLY-72; ILE-73; ASP-76; ARG-79; ALA-106; ASP-139; CYS-279; VAL-282; LEU-285; SER-285; ASP-308; SER-308; VAL-309; LYS-501 AND VAL-504; PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
Maheshwari M.; Belmont J.; Fernbach S.; Ho T.; Molinari L.; Yakub I.; Yu F.; Combes A.; Towbin J.A.; Craigen W.J.; Gibbs R.A.;
Hum. Mutat. 20:298-304(2002)
Cited for: VARIANTS NS1 ASP-62; CYS-63 AND THR-502; PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
Kosaki K.; Suzuki T.; Muroya K.; Hasegawa T.; Sato S.; Matsuo N.; Kosaki R.; Nagai T.; Hasegawa Y.; Ogata T.;
J. Clin. Endocrinol. Metab. 87:3529-3533(2002)
Cited for: VARIANTS NS1 GLY-61; CYS-63; SER-72; ILE-73; SER-285 AND ASP-308; Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L.; Kehl H.G.; Majewski F.; Meinecke P.; Schweiger S.; Gillessen-Kaesbach G.; Wieczorek D.; Hinkel G.K.; Tinschert S.; Hoeltzenbein M.; Ropers H.-H.; Kalscheuer V.M.;
Eur. J. Hum. Genet. 11:201-206(2003)
Cited for: VARIANTS NS1 LYS-58; ASN-61; GLY-61; CYS-63; GLN-69; LEU-71; SER-72; ILE-73; ASP-76; ARG-79; ASP-139; ARG-256; VAL-282 AND ASP-308; Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Sarkozy A.; Conti E.; Seripa D.; Digilio M.C.; Grifone N.; Tandoi C.; Fazio V.M.; Di Ciommo V.; Marino B.; Pizzuti A.; Dallapiccola B.;
J. Med. Genet. 40:704-708(2003)
Cited for: VARIANTS NS1 ILE-2; ALA-42; ASP-62; CYS-63; GLY-72; PRO-79; ALA-106; CYS-279; ASP-308; SER-308; MET-468; ARG-503; VAL-504 AND PHE-560;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.