Variant position: 507 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 GVDCDIDVPKTIQMVRSQRS GMVQTEAQYRFIYMAVQHYIE
Mouse GVDCDIDVPKTIQMVRSQRS GMVQTEAQYRFIYMAVQHYIE
Rat GVDCDIDVPKTIQMVRSQRS GMVQTEAQYRFIYMAVQHYIE
Chicken GVDCDIDVPKTIQMVRSQRS GMVQTEAQYRFIYMAVQHYIE
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
247 – 521 Tyrosine-protein phosphatase
510 – 510 Substrate
465 – 597 Missing. In isoform 3.
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-472; ARG-507; VAL-508 AND PHE-564;
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-507 AND ARG-507; 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;
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.