PR:000000803 hKCNV2/var:G459D UniProtKB:Q8TDN2, Gly-459, CHEBI:29958 | voltage-gated potassium channel KCNV2 sequence variant 1 (human) "A potassium voltage-gated channel subfamily V member 2 (human) that has an Asp residue at the position equivalent to Gly-459 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Gly-459, CHEBI:29958." [PMID:16909397, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |