Sequence information
Variant position: 279 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:
CKLLYSRKEGQRQENKNKNR
Y KNILPFDHTRVVLHDGDPNE
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 CKLLYSRKEGQRQENKNKNRY KNILPFDHTRVVLHDGDPNE
Mouse CKLLYSRKEGQRQENKNKNRY KNILPFDHTRVVLHDGDPNE
Rat CKLLYSRKEGQRQENKNKNRY KNILPFDHTRVVLHDGDPNE
Chicken CKLLYSRKEGQRQENKNKNRY KNILPFDHTRVVLHDGDPNE
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
Beta strand
277 – 279
Literature citations
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Keren B.; Hadchouel A.; Saba S.; Sznajer Y.; Bonneau D.; Leheup B.; Boute O.; Gaillard D.; Lacombe D.; Layet V.; Marlin S.; Mortier G.; Toutain A.; Beylot C.; Baumann C.; Verloes A.; Cave H.;
J. Med. Genet. 41:E117-E117(2004)
Cited for: VARIANTS LPRD1 CYS-279; SER-279; MET-468 AND PRO-510;
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.