Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 156 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 VRDAWGRLPVDLAEELGHRD VARYLR-------------AAAGGTRG--------SNHARID
Mouse VRDAWGRLPLDLAQERGHQD IVRYLRSAGCSLCSAGWSLCT
Rat VRDAWGRLPLDLALERGHHD VVRYLR----------YLLSS
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.
Germline p16 mutations in familial melanoma.
Hussussian C.J.; Struewing J.P.; Goldstein A.M.; Higgins P.A.T.; Ally D.S.; Sheahan M.D.; Clark W.H. Jr.; Tucker M.A.; Dracopoli N.C.;
Nat. Genet. 8:15-21(1994)
Cited for: VARIANTS CMM2 PRO-87; TRP-101 AND ASP-126; VARIANTS THR-49; SER-71 AND THR-148;
Mutations associated with familial melanoma impair p16INK4 function.
Ranade K.; Hussussian C.J.; Sikorski R.S.; Varmus H.E.; Goldstein A.M.; Tucker M.A.; Serrano M.; Hannon G.J.; Beach D.; Dracopoli N.C.;
Nat. Genet. 10:114-116(1995)
Cited for: CHARACTERIZATION OF VARIANTS THR-49; SER-71; LEU-81; PRO-87; TRP-101; ASP-126 AND THR-148;
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.
Goldstein A.M.; Liu L.; Shennan M.G.; Hogg D.; Tucker M.A.; Struewing J.P.;
Br. J. Cancer 85:527-530(2001)
Cited for: VARIANT CMM2 ASP-126;
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