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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human)
PR:000000832 -
http://purl.obolibrary.org/obo/PR_000000832
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000832
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:I313M
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Ile-313,
CHEBI:16044
NARROW:
UniProtKB:P51787-1
, Ile-313,
CHEBI:16044
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 23 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Ile-313 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Ile-313,
CHEBI:16044
." [
PMID:10704188
,
PMID:9024139
, PRO:CNA, PRO:DAN]
Comment
Note: This residue is located in the pore region between segments S5 and S6.
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_001531
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000832
hKCNQ1/var:I313M
UniProtKB:P51787, Ile-313, CHEBI:16044 | UniProtKB:P51787-1, Ile-313, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 23 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Ile-313 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ile-313, CHEBI:16044." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9024139