Variant position: 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 597 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PGDFTLSVRRNGAVTHIKIQ NTGDYYDLYGGEKFATLAELV
Mouse PGDFTLSVRRNGAVTHIKIQ NTGDYYDLYGGEKFATLAELV
Rat PGDFTLSVRRNGAVTHIKIQ NTGDYYDLYGGEKFATLAELV
Chicken PGDFTLSVRRTGAVTHIKIQ NTGDYYDLYGGEKFATLAELV
Sequence annotation in neighborhood: 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.
Type Positions Description
2 – 597 Tyrosine-protein phosphatase non-receptor type 11
6 – 102 SH2 1
62 – 62 Phosphotyrosine
66 – 66 Phosphotyrosine
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;
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.