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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
PR:000000870 -
http://purl.obolibrary.org/obo/PR_000000870
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000870
PRO name
voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ1/var:V307L
PRO-proteoform-std
:
EXACT:
UniProtKB:P51787
, Val-307,
CHEBI:30006
NARROW:
UniProtKB:P51787-1
, Val-307,
CHEBI:30006
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Val-307 of the amino acid sequence represented by
UniProtKB:P51787-1
. Example:
UniProtKB:P51787-1
, Val-307,
CHEBI:30006
." [
PMID:15159330
, 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_023841
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000870
hKCNQ1/var:V307L
UniProtKB:P51787, Val-307, CHEBI:30006 | UniProtKB:P51787-1, Val-307, CHEBI:30006 | voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human)
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Val-307 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-307, CHEBI:30006." [PMID:15159330, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050793
short QT syndrome
PMID:15159330
enables
increased
GO:0005267
potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:15159330
located_in
SO:0001557
polypeptide_gain_of_function_variant
PMID:15159330