PR:000000807 hKCNV2/var:S256W UniProtKB:Q8TDN2, Ser-256, CHEBI:29954 | voltage-gated potassium channel KCNV2 sequence variant 5 (human) "A potassium voltage-gated channel subfamily V member 2 (human) that has a Trp residue at the position equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Ser-256, CHEBI:29954." [PMID:16909397, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |