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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
PR:000000890 -
http://purl.obolibrary.org/obo/PR_000000890
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000890
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:T312I
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Thr-312,
CHEBI:30009
NARROW:
UniProtKB:P51787-1
, Thr-312,
CHEBI:30009
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-312 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Thr-312,
CHEBI:30009
." [
PMID:10409658
,
PMID:9323054
, 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_001530
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000890
hKCNQ1/var:T312I
UniProtKB:P51787, Thr-312, CHEBI:30009 | UniProtKB:P51787-1, Thr-312, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-312 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-312, CHEBI:30009." [PMID:10409658, PMID:9323054, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10409658
;
PMID:9323054
enables
NOT|contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:10409658
;
PMID:9323054
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:10409658
;
PMID:9323054