Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 593 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 IQNTGDYYDLYGGEKFATLA ELVQYYMEHHGQLKEKNGDVI
Mouse IQNTGDYYDLYGGEKFATLA ELVQYYMEHHGQLKEKNGDVI
Rat IQNTGDYYDLYGGEKFATLA ELVQYYMEHHGQLKEKNGDVI
Chicken IQNTGDYYDLYGGEKFATLA ELVQYYMEHHGQLKEKNGDVI
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 – 593 Tyrosine-protein phosphatase non-receptor type 11
6 – 102 SH2 1
62 – 62 Phosphotyrosine
66 – 66 Phosphotyrosine
74 – 82
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Tartaglia M.; Niemeyer C.M.; Fragale A.; Song X.; Buechner J.; Jung A.; Haehlen K.; Hasle H.; Licht J.D.; Gelb B.D.;
Nat. Genet. 34:148-150(2003)
Cited for: VARIANTS JMML TYR-61; VAL-61; LYS-69; THR-72; VAL-72; ALA-76; GLY-76; LYS-76; VAL-76; ALA-503 AND ARG-503; VARIANTS MYELODYSPLASTIC SYNDROME VAL-60; VAL-61; LYS-69; LEU-71 AND ALA-76; VARIANTS NS1 ASP-62 AND ILE-73; VARIANT ACUTE MYELOID LEUKEMIA LYS-71;
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
Noda S.; Takahashi A.; Hayashi T.; Tanuma S.; Hatakeyama M.;
Biochem. Biophys. Res. Commun. 469:1133-1139(2016)
Cited for: VARIANT JMML LYS-76; CHARACTERIZATION OF VARIANT JMML LYS-76; VARIANTS LPRD1 CYS-279; MET-468; PRO-506 AND GLU-510; CHARACTERIZATION OF VARIANTS LPRD1 CYS-279; MET-468; PRO-506 AND GLU-510; FUNCTION; CATALYTIC ACTIVITY; INTERACTION WITH CDC73; SUBCELLULAR LOCATION;
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.