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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant L243F (human) PR:000000910 - http://purl.obolibrary.org/obo/PR_000000910        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000910      PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant L243F (human)    Synonyms PRO-Short-label: EXACT: hKCNQ2/var:L243F PRO-proteoform-std: EXACT: UniProtKB:O43526, Leu-243, CHEBI:29997 NARROW: UniProtKB:O43526-1, Leu-243, CHEBI:29997 Other: EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 3 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Phe residue at the position equivalent to Leu-243 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Leu-243, CHEBI:29997." [PMID:14534157, PRO:CNA, PRO:DAN]    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_026990 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000910 hKCNQ2/var:L243F UniProtKB:O43526, Leu-243, CHEBI:29997 | UniProtKB:O43526-1, Leu-243, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ2 sequence variant 3 (human) "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Phe residue at the position equivalent to Leu-243 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Leu-243, CHEBI:29997." [PMID:14534157, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:14264 benign neonatal seizures PMID:14534157