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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human)
PR:000000819 -
http://purl.obolibrary.org/obo/PR_000000819
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000819
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:R243C
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Arg-243,
CHEBI:29950
NARROW:
UniProtKB:P51787-1
, Arg-243,
CHEBI:29950
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-243 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Arg-243,
CHEBI:29950
." [
PMID:10409658
,
PMID:10704188
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:P51787
potassium voltage-gated channel subfamily KQT member 1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_010933
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000819
hKCNQ1/var:R243C
UniProtKB:P51787, Arg-243, CHEBI:29950 | UniProtKB:P51787-1, Arg-243, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-243 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-243, CHEBI:29950." [PMID:10409658, PMID:10704188, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10409658
;
PMID:10704188
enables
altered
GO:0005251
delayed rectifier potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10409658