Variant position: 101 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 PVHDAAREGFLDTLVVLHRA GARLDVRDAWGRLPVDLAEEL
Mouse PVHDAAREGFLDTLVVLHGS GARLDVRDAWGRLPLDLAQER
Rat PVHDAAREGFLDTLVVLHQA GARLDVRDAWGRLPLDLALER
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
1 – 156 Cyclin-dependent kinase inhibitor 2A
77 – 106 ANK 3
52 – 116 MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVD -> GRGSAAGAGDGGRLWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGDALGAWEAKEEE. In isoform 3.
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;
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.
Ruiz A.; Puig S.; Malvehy J.; Lazaro C.; Lynch M.; Gimenez-Arnau A.M.; Puig L.; Sanchez-Conejo J.; Estivill X.; Castel T.;
J. Med. Genet. 36:490-493(1999)
Cited for: VARIANTS CMM2 GLY-59; TYR-84; TRP-87 AND TRP-101;
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.