PR:000000804 hKCNV2/var:A259V UniProtKB:Q8TDN2, Ala-259, CHEBI:30015 | voltage-gated potassium channel KCNV2 sequence variant 2 (human) "A potassium voltage-gated channel subfamily V member 2 (human) that has a Val residue at the position equivalent to Ala-259 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Ala-259, CHEBI:30015." [PMID:16909397, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |