PR:000000805 hKCNV2/var:L126Q UniProtKB:Q8TDN2, Leu-126, CHEBI:30011 | voltage-gated potassium channel KCNV2 sequence variant 3 (human) "A potassium voltage-gated channel subfamily V member 2 (human) that has a Gln residue at the position equivalent to Leu-126 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Leu-126, CHEBI:30011." [PMID:16909397, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |