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Protein Ontology Report - hKCNQ2/var:R207W

PR:000000909 - http://purl.obolibrary.org/obo/PR_000000909
Ontology Information
PRO ID PR:000000909 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)
Synonyms
PRO-short-label: hKCNQ2/var:R207W
EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 2 (human)
PRO-proteoform-std: UniProtKB:O43526-1, Arg-207, CHEBI:29954
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)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000909
hKCNQ2/var:R207W
Arg-207, CHEBI:29954
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:11572947
capable_of GO:0005249 voltage-gated potassium channel activity decreased relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:11572947

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