PR:000000806 hKCNV2/var:4 UniProtKB:Q8TDN2, 1-338, 342-545 "A potassium voltage-gated channel subfamily V member 2 (human) that has a three-residue deletion at the positions equivalent to 339-341 of the amino acid sequence represented by UniProtKB:Q8TDN2. These residues are part of segment S3. UniProtKB:Q8TDN2, 1-338, 342-545." [PMID:16909397, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |