Variant position: 468 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 HKQESIMDAGPVVVHCSAGI GRTGTFIVIDILIDIIREKGV
Mouse HKQESIVDAGPVVVHCSAGI GRTGTFIVIDILIDIIREKGV
Rat HKQESIVDAGPVVVHCSAGI GRTGTFIVIDILIDIIREKGV
Chicken HKQESISDAGPVVVHCSAGI GRTGTFIVIDILIDIIREKGV
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
463 – 469 Substrate binding
463 – 463 Phosphocysteine intermediate
464 – 464 S -> R. In isoform 3.
465 – 597 Missing. In isoform 3.
463 – 463 C -> S. Abolishes phosphatase activity.
468 – 486
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
Yoshida R.; Nagai T.; Hasegawa T.; Kinoshita E.; Tanaka T.; Ogata T.;
Am. J. Med. Genet. A 130:432-434(2004)
Cited for: VARIANTS LPRD1 THR-465 AND ALA-468;
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Sarkozy A.; Conti E.; Digilio M.C.; Marino B.; Morini E.; Pacileo G.; Wilson M.; Calabro R.; Pizzuti A.; Dallapiccola B.;
J. Med. Genet. 41:E68-E68(2004)
Cited for: VARIANTS LPRD1 CYS-279; SER-279; ALA-468; MET-472; TRP-502; LEU-502 AND PRO-510;
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.