PR:000000738 hCNGA1/var:S320F UniProtKB:P29973, Ser-320, CHEBI:29997 | UniProtKB:P29973-1, Ser-320, CHEBI:29997 | cGMP-gated cation channel alpha-1 sequence variant 1 (human) "A cGMP-gated cation channel alpha-1 (human) that has a Phe residue at the position equivalent to Ser-320 of the amino acid sequence represented by UniProtKB:P29973-1. Example: UniProtKB:P29973-1, Ser-320, CHEBI:29997." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:10584 retinitis pigmentosa |
PMID:7479749 |