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Protein Ontology report - cyclic nucleotide-gated cation channel alpha-3 sequence variant F547L (human)
PR:000000746 -
http://purl.obolibrary.org/obo/PR_000000746
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000746
PRO name
cyclic nucleotide-gated cation channel alpha-3 sequence variant F547L (human)
Synonyms
PRO-Short-label
:
EXACT:
hCNGA3/var:F547L
PRO-proteoform-std
:
EXACT:
UniProtKB:Q16281
, Phe-547,
CHEBI:30006
NARROW:
UniProtKB:Q16281-1
, Phe-547,
CHEBI:30006
Other
:
EXACT:
cyclic nucleotide-gated cation channel alpha-3 sequence variant 6 (human)
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)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_010908
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000746
hCNGA3/var:F547L
UniProtKB:Q16281, Phe-547, CHEBI:30006 | UniProtKB:Q16281-1, Phe-547, CHEBI:30006 | cyclic nucleotide-gated cation channel alpha-3 sequence variant 6 (human)
"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]
associated_with_disease_progression
DO:13911
achromatopsia
PMID:9662398
