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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human) PR:000000913 - http://purl.obolibrary.org/obo/PR_000000913        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000913      PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)    Synonyms PRO-Short-label: EXACT: hKCNQ2/var:A306T PRO-proteoform-std: EXACT: UniProtKB:O43526, Ala-306, CHEBI:30013 NARROW: UniProtKB:O43526-1, Ala-306, CHEBI:30013 Other: EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 6 (human)   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)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_010931 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000913 hKCNQ2/var:A306T Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013 associated_with_disease_progression DO:14264 benign neonatal seizures PMID:10788442 located_in GO:0009986 cell surface PMID:10788442