Variant position: 506 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 KGVDCDIDVPKTIQMVRSQR SGMVQTEAQYRFIYMAVQHYI
Mouse KGVDCDIDVPKTIQMVRSQR SGMVQTEAQYRFIYMAVQHYI
Rat KGVDCDIDVPKTIQMVRSQR SGMVQTEAQYRFIYMAVQHYI
Chicken KGVDCDIDVPKTIQMVRSQR SGMVQTEAQYRFIYMAVQHYI
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
510 – 510 Substrate
465 – 597 Missing. In isoform 3.
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
Maheshwari M.; Belmont J.; Fernbach S.; Ho T.; Molinari L.; Yakub I.; Yu F.; Combes A.; Towbin J.A.; Craigen W.J.; Gibbs R.A.;
Hum. Mutat. 20:298-304(2002)
Cited for: VARIANTS NS1 ASP-62; CYS-63 AND THR-506;
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.
Kondoh T.; Ishii E.; Aoki Y.; Shimizu T.; Zaitsu M.; Matsubara Y.; Moriuchi H.;
Eur. J. Pediatr. 162:548-549(2003)
Cited for: VARIANT NS1 THR-506;
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