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Protein Ontology report - cyclic nucleotide-gated cation channel alpha-3 sequence variant V529M (human)
PR:000000744 -
http://purl.obolibrary.org/obo/PR_000000744
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000744
PRO name
cyclic nucleotide-gated cation channel alpha-3 sequence variant V529M (human)
Synonyms
PRO-Short-label
:
EXACT:
hCNGA3/var:V529M
PRO-proteoform-std
:
EXACT:
UniProtKB:Q16281
, Val-529,
CHEBI:16044
NARROW:
UniProtKB:Q16281-1
, Val-529,
CHEBI:16044
Other
:
EXACT:
cyclic nucleotide-gated cation channel alpha-3 sequence variant 4 (human)
Definition
"A cyclic nucleotide-gated cation channel alpha-3 (human) that has a Met residue at the position equivalent to Val-529 of the amino acid sequence represented by
UniProtKB:Q16281-1
. Example:
UniProtKB:Q16281-1
, Val-529,
CHEBI:16044
." [
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_010907
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000744
hCNGA3/var:V529M
UniProtKB:Q16281, Val-529, CHEBI:16044 | UniProtKB:Q16281-1, Val-529, CHEBI:16044 | cyclic nucleotide-gated cation channel alpha-3 sequence variant 4 (human)
"A cyclic nucleotide-gated cation channel alpha-3 (human) that has a Met residue at the position equivalent to Val-529 of the amino acid sequence represented by UniProtKB:Q16281-1. Example: UniProtKB:Q16281-1, Val-529, CHEBI:16044." [PMID:9662398, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:13911
achromatopsia
PMID:9662398
