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Protein Ontology Report - hKCNQ2/var:M208V

PR:000000915 - http://purl.obolibrary.org/obo/PR_000000915
Ontology Information
PRO ID PR:000000915 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human)
Synonyms
PRO-short-label: hKCNQ2/var:M208V
EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 8 (human)
PRO-proteoform-std: UniProtKB:O43526-1, Met-208, CHEBI:30015
Definition A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Val residue at the position equivalent to Met-208 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Met-208, CHEBI:30015. [PMID:14534157, PRO:CNA, PRO:DAN]
Comment Note: This mutation is located in the S4 transmembrane domain and causes minor effect on maximal current but clearly exhibits a faster rate of deactivation.
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:000000915
hKCNQ2/var:M208V
Met-208, CHEBI:30015
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157

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