UniProtKB/SwissProt variant VAR

Cyclin-dependent kinase inhibitor 2A
Gene: CDKN2A
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Variant information Variant position:

59
Type of variant:

LP/P [Disclaimer]
Residue change:

From Valine (V) to Glycine (G) at position 59 (V59G, p.Val59Gly).
Physico-chemical properties:

Change from medium size and hydrophobic (V) to glycine (G)
BLOSUM score:

-3
Variant description:

In CMM2.
Other resources:

Variant rs104894099 [ dbSNP | Ensembl ]

Sequence information Variant position:

59
Protein sequence length:

156
Location on the sequence:

NAPNSYGRRPIQVMMMGSAR V AELLLLHGAEPNCADPATLT
Residue conservation:

Human                         NAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLT

Mouse                         NAPNSFGRTPIQVMMMGNVHVAALLLNYGADSNCEDPTTFS

Rat                           NAPNTFGRTPIQVMMMGNVKVAALLLSYGADSNCEDPTTLS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 156	Cyclin-dependent kinase inhibitor 2A
Repeat	44 – 72	ANK 2
Alternative sequence	52 – 116	MMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVD -> GRGSAAGAGDGGRLWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHRPPPGDALGAWEAKEEE. In isoform 3.
Helix	57 – 64

Literature citations
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;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42771: Variant p.Val59Gly