PR:000000752 hCNGB3/var:S435F UniProtKB:Q9NQW8, Ser-435, CHEBI:29997 | UniProtKB:Q9NQW8-1, Ser-435, CHEBI:29997 | cyclic nucleotide-gated cation channel beta-3 sequence variant 1 (human) "A cyclic nucleotide-gated cation channel beta-3 (human) that has a Phe residue at the position equivalent to Ser-435 of the amino acid sequence represented by UniProtKB:Q9NQW8-1. Example: UniProtKB:Q9NQW8-1, Ser-435, CHEBI:29997." [PMID:10888875, PMID:10958649, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:10888875; PMID:10958649 |