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Protein Ontology Report - hKCNQ2/var:A306T

PR:000000913 - http://purl.obolibrary.org/obo/PR_000000913
Ontology Information
PRO ID PR:000000913 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)
Synonyms
PRO-short-label: hKCNQ2/var:A306T
EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 6 (human)
PRO-proteoform-std: UniProtKB:O43526-1, Ala-306, CHEBI:30013
Definition A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Thr residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013. [PMID:10788442, PRO:CNA, PRO:DAN]
Comment Note: This mutation is located in transmembrane domain S6 and causes a reduction of wild type heteromeric currents.
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:000000913
hKCNQ2/var:A306T
Ala-306, CHEBI:30013 		associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:10788442
located_in GO:0009986 cell surface PMID:10788442
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0009986 cell surface PR:000000913 hKCNQ2/var:A306T
Ala-306, CHEBI:30013
PMID:10788442

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