Sequence information
Variant position: 506 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:
CDIDVPKTIQMVRSQRSGMV
Q TEAQYRFIYMAVQHYIETLQ
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 CDIDVPKTIQMVRSQRSGMVQ TEAQYRFIYMAVQHYIETLQ
Mouse CDIDVPKTIQMVRSQRSGMVQ TEAQYRFIYMAVQHYIETLQ
Rat CDIDVPKTIQMVRSQRSGMVQ TEAQYRFIYMAVQHYIETLQ
Chicken CDIDVPKTIQMVRSQRSGMVQ TEAQYRFIYMAVQHYIETLQ
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
Binding site
506 – 506
Alternative sequence
461 – 593
Missing. In isoform 3.
Literature citations
A novel PTPN11 mutation in LEOPARD syndrome.
Conti E.; Dottorini T.; Sarkozy A.; Tiller G.E.; Esposito G.; Pizzuti A.; Dallapiccola B.;
Hum. Mutat. 21:654-654(2003)
Cited for: VARIANT LPRD1 PRO-506;
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;
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Kalidas K.; Shaw A.C.; Crosby A.H.; Newbury-Ecob R.; Greenhalgh L.; Temple I.K.; Law C.; Patel A.; Patton M.A.; Jeffery S.;
J. Hum. Genet. 50:21-25(2005)
Cited for: VARIANT LPRD1 PRO-506;
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;
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.