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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42771: Variant p.Glu69Gly

Cyclin-dependent kinase inhibitor 2A
Gene: CDKN2A
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Variant information Variant position: help 69
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Glycine (G) at position 69 (E69G, p.Glu69Gly).
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G)
BLOSUM score: help -2
Variant description: help Found in some patients with melanoma; partial loss of CDK4 binding.
Other resources: help


Sequence information Variant position: help 69
Protein sequence length: help 156
Location on the sequence: help IQVMMMGSARVAELLLLHGA E PNCADPATLTRPVHDAAREG
Residue conservation: help 
Human                         IQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREG

Mouse                         IQVMMMGNVHVAALLLNYGADSNCEDPTTFSRPVHDAAREG

Rat                           IQVMMMGNVKVAALLLSYGADSNCEDPTTLSRPVHDAAREG
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
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Kannengiesser C.; Brookes S.; del Arroyo A.G.; Pham D.; Bombled J.; Barrois M.; Mauffret O.; Avril M.F.; Chompret A.; Lenoir G.M.; Sarasin A.; Peters G.; Bressac-de Paillerets B.;
Hum. Mutat. 30:564-574(2009)
Cited for: VARIANTS CMM2 THR-ALA-19 INS; VAL-35; ARG-67; 67-GLY--ASN-71 DEL; TYR-74; PRO-77; PRO-80; THR-81 AND ARG-97; VARIANTS GLN-24; GLY-69 AND SER-114; CHARACTERIZATION OF VARIANTS;
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.