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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human)
PR:000000856 -
http://purl.obolibrary.org/obo/PR_000000856
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000856
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:R174H
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Arg-174,
CHEBI:29979
NARROW:
UniProtKB:P51787-1
, Arg-174,
CHEBI:29979
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 45 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-174 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Arg-174,
CHEBI:29979
." [
PMID:10367071
, PRO:CNA, PRO:DAN]
Comment
Note: This residue is located in the loop between segments S2 and S3.
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_008939
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000856
hKCNQ1/var:R174H
UniProtKB:P51787, Arg-174, CHEBI:29979 | UniProtKB:P51787-1, Arg-174, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 45 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-174 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-174, CHEBI:29979." [PMID:10367071, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10367071
