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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42771: Variant p.Asn71Ser

Cyclin-dependent kinase inhibitor 2A
Gene: CDKN2A
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Variant information Variant position: help 71
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Serine (S) at position 71 (N71S, p.Asn71Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 71
Protein sequence length: help 156
Location on the sequence: help VMMMGSARVAELLLLHGAEP N CADPATLTRPVHDAAREGFL
Residue conservation: help 
Human                         VMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFL

Mouse                         VMMMGNVHVAALLLNYGADSNCEDPTTFSRPVHDAAREGFL

Rat                           VMMMGNVKVAALLLSYGADSNCEDPTTLSRPVHDAAREGFL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 156 Cyclin-dependent kinase inhibitor 2A
Repeat 44 – 72 ANK 2
Alternative sequence 52 – 116 MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVD -> GRGSAAGAGDGGRLWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGDALGAWEAKEEE. In isoform 3.



Literature citations
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;
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.