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Protein Ontology Report - hCNGA3/var:F547L

PR:000000746 - http://purl.obolibrary.org/obo/PR_000000746
Ontology Information
PRO ID PR:000000746 Show OBO stanza / PAF
PRO name cyclic nucleotide-gated cation channel alpha-3 sequence variant F547L (human)
Synonyms
PRO-short-label: hCNGA3/var:F547L
EXACT: cyclic nucleotide-gated cation channel alpha-3 sequence variant 6 (human)
PRO-proteoform-std: UniProtKB:Q16281-1, Phe-547, CHEBI:30006
Definition A cyclic nucleotide-gated cation channel alpha-3 (human) that has a Leu residue at the position equivalent to Phe-547 of the amino acid sequence represented by UniProtKB:Q16281-1. Example: UniProtKB:Q16281-1, Phe-547, CHEBI:30006. [PMID:9662398, PRO:CNA, PRO:DAN]
Comment Note: This residue is located within the cytoplasmic cyclic nucleotide binding domain (CNBD).
PRO Category organism-sequence
Parent PR:Q16281 cyclic nucleotide-gated cation channel alpha-3 (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000746
hCNGA3/var:F547L
Phe-547, CHEBI:30006
associated_with_disease_progression DOID:13911 achromatopsia PMID:9662398

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