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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)
PR:000000909 -
http://purl.obolibrary.org/obo/PR_000000909
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000909
PRO name
voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ2/var:R207W
PRO-proteoform-std
:
EXACT:
UniProtKB:O43526
, Arg-207,
CHEBI:29954
NARROW:
UniProtKB:O43526-1
, Arg-207,
CHEBI:29954
Other
:
EXACT:
voltage-gated potassium channel subunit KCNQ2 sequence variant 2 (human)
Definition
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Arg-207 of the amino acid sequence represented by
UniProtKB:O43526-1
. Example:
UniProtKB:O43526-1
, Arg-207,
CHEBI:29954
." [
PMID:11572947
, PRO:CNA, PRO:DAN]
Comment
Note: This mutation neutralizes a charged amino acid in the S4 voltage-sensor segment of KCNQ2, and leads to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization.
PRO Category
organism-sequence
Parent
PR:O43526
potassium voltage-gated channel subfamily KQT member 2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_026987
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000909
hKCNQ2/var:R207W
UniProtKB:O43526, Arg-207, CHEBI:29954 | UniProtKB:O43526-1, Arg-207, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ2 sequence variant 2 (human)
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Arg-207 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Arg-207, CHEBI:29954." [PMID:11572947, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:14264
benign neonatal seizures
PMID:11572947
enables
decreased
GO:0005249
voltage-gated potassium channel activity
relative to
PR:000002632
KCNQ2/iso:2/UnMod
PMID:11572947