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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human) PR:000000907 - http://purl.obolibrary.org/obo/PR_000000907        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000907      PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)    Synonyms PRO-Short-label: EXACT: hKCNQ2/var:S247W PRO-proteoform-std: EXACT: UniProtKB:O43526, Ser-247, CHEBI:29954 NARROW: UniProtKB:O43526-1, Ser-247, CHEBI:29954 Other: EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 1 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Ser-247 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ser-247, CHEBI:29954." [PMID:12742592, PRO:CNA, PRO:DAN]    Comment Note: This residue is located within the transmembrane S5. This form reduces the current amplitude of KCNQ2 homomeric channels in a dominant-negative manner whereas the amplitude of KCNQ2/KCNQ3 heteromers is only reduced by about 40%.    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_026991 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000907 hKCNQ2/var:S247W Example: UniProtKB:O43526-1, Ser-247, CHEBI:29954 associated_with_disease_progression DO:14264 benign neonatal seizures PMID:12742592 enables decreased GO:0005249 voltage-gated potassium channel activity relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:12742592