Sequence information
Variant position: 464 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:
HKQESIMDAGPVVVHCSAGI
G RTGTFIVIDILIDIIREKGV
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 HKQESIMDAGPVVVHCSAGIG RTGTFIVIDILIDIIREKGV
Mouse HKQESIVDAGPVVVHCSAGIG RTGTFIVIDILIDIIREKGV
Rat HKQESIVDAGPVVVHCSAGIG RTGTFIVIDILIDIIREKGV
Chicken HKQESISDAGPVVVHCSAGIG RTGTFIVIDILIDIIREKGV
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
Chain
2 – 593
Tyrosine-protein phosphatase non-receptor type 11
Domain
247 – 517
Tyrosine-protein phosphatase
Active site
459 – 459
Phosphocysteine intermediate
Binding site
459 – 465
Alternative sequence
460 – 460
S -> R. In isoform 3.
Alternative sequence
461 – 593
Missing. In isoform 3.
Mutagenesis
459 – 459
C -> S. Abolishes phosphatase activity. Enhances interaction with NEDD9.
Helix
464 – 482
Literature citations
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-461 AND ALA-464;
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-464; MET-468; TRP-498; LEU-498 AND PRO-506;
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.