| PRO Term |
GO Annotation |
Evidence |
PR:000000741 hCNGA3/var:R283Q Example: UniProtKB:Q16281-1, Arg-283, CHEBI:30011 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000742 hCNGA3/var:T291R Example: UniProtKB:Q16281-1, Thr-291, CHEBI:29952 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000743 hCNGA3/var:G557R Example: UniProtKB:Q16281-1, Gly-557, CHEBI:29952 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000744 hCNGA3/var:V529M Example: UniProtKB:Q16281-1, Val-529, CHEBI:16044 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000745 hCNGA3/var:R283W Example: UniProtKB:Q16281-1, Arg-283, CHEBI:29954 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000746 hCNGA3/var:F547L Example: UniProtKB:Q16281-1, Phe-547, CHEBI:30006 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000747 hCNGA3/var:R410W Example: UniProtKB:Q16281-1, Arg-410, CHEBI:29954 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
PR:000000748 hCNGA3/var:P163L Example: UniProtKB:Q16281-1, Pro-163, CHEBI:30006 |
associated_with_disease_progression | DO:13911 achromatopsia |
PMID:9662398 |
| PR:Q16281-1 hCNGA3/iso:1 |
acts_upstream_of_or_within | GO:0007165 signal transduction |
PMID:9517456 |
| enables | GO:0015276 ligand-gated monoatomic ion channel activity |
PMID:9517456 |
| located_in | GO:0017071 intracellular cyclic nucleotide activated cation channel complex |
PMID:12467591 |