PR:000000808 hKCNV2/var:W188C UniProtKB:Q8TDN2, Trp-188, CHEBI:29950 | voltage-gated potassium channel KCNV2 sequence variant 6 (human) "A potassium voltage-gated channel subfamily V member 2 (human) that has a Cys residue at the position equivalent to Trp-188 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Trp-188, CHEBI:29950." [PMID:16909397, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |