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 Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M.; Kalidas K.; Shaw A.; Song X.; Musat D.L.; van der Burgt I.; Brunner H.G.; Bertola D.R.; Crosby A.H.; Ion A.; Kucherlapati R.S.; Jeffery S.; Patton M.A.; Gelb B.D.;
Am. J. Hum. Genet. 70:1555-1563(2002)
Cited for: VARIANTS NS1 ALA-42; ALA-60; ASN-61; GLY-61; ASP-62; CYS-63; GLY-72; ILE-73; ASP-76; ARG-79; ALA-106; ASP-139; CYS-279; VAL-282; LEU-285; SER-285; ASP-308; SER-308; VAL-309; LYS-501 AND VAL-504;
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
Digilio M.C.; Conti E.; Sarkozy A.; Mingarelli R.; Dottorini T.; Marino B.; Pizzuti A.; Dallapiccola B.;
Am. J. Hum. Genet. 71:389-394(2002)
Cited for: VARIANTS LPRD1 CYS-279 AND MET-468;
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-468; ARG-503; VAL-504 AND PHE-560;
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;
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
Ucar C.; Calyskan U.; Martini S.; Heinritz W.;
J. Pediatr. Hematol. Oncol. 28:123-125(2006)
Cited for: VARIANT LPRD1 CYS-279;
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.