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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human) PR:000000879 - http://purl.obolibrary.org/obo/PR_000000879        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000879      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:L273F PRO-proteoform-std: EXACT: UniProtKB:P51787, Leu-273, CHEBI:29997 NARROW: UniProtKB:P51787-1, Leu-273, CHEBI:29997 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Leu-273 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-273, CHEBI:29997." [PMID:9323054, PRO:CNA, PRO:DAN]    Comment Note: This residue is located within the segment S5.    PRO Category organism-sequence    Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_001525 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000879 hKCNQ1/var:L273F Example: UniProtKB:P51787-1, Leu-273, CHEBI:29997 associated_with_disease_progression DO:2843 long QT syndrome PMID:9323054 enables contributes_to GO:0005251 delayed rectifier potassium channel activity PMID:9323054 located_in SO:0001561 polypeptide_partial_loss_of_function PMID:9323054