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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42771: Variant p.Ala85Thr

Cyclin-dependent kinase inhibitor 2A
Gene: CDKN2A
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Variant information Variant position: help 85
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 85 (A85T, p.Ala85Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 85
Protein sequence length: help 156
Location on the sequence: help LHGAEPNCADPATLTRPVHD A AREGFLDTLVVLHRAGARLD
Residue conservation: help 
Human                         LHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLD

Mouse                         NYGADSNCEDPTTFSRPVHDAAREGFLDTLVVLHGSGARLD

Rat                           SYGADSNCEDPTTLSRPVHDAAREGFLDTLVVLHQAGARLD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 156 Cyclin-dependent kinase inhibitor 2A
Repeat 77 – 106 ANK 3
Alternative sequence 52 – 116 MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVD -> GRGSAAGAGDGGRLWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGDALGAWEAKEEE. In isoform 3.
Helix 81 – 88



Literature citations
Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.
Fitzgerald M.G.; Harkin D.P.; Silva-Arrieta S.; Macdonald D.J.; Lucchina L.C.; Unsal H.; O'Neill E.; Koh J.; Finkelstein D.M.; Isselbacher K.J.; Sober A.J.; Haber D.A.;
Proc. Natl. Acad. Sci. U.S.A. 93:8541-8545(1996)
Cited for: VARIANTS CMM2 ILE-53 AND CYS-107; VARIANTS VAL-68; THR-85 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.