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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human) PR:000000825 - http://purl.obolibrary.org/obo/PR_000000825        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000825      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:A178P PRO-proteoform-std: EXACT: UniProtKB:P51787, Ala-178, CHEBI:50342 NARROW: UniProtKB:P51787-1, Ala-178, CHEBI:50342 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-178, CHEBI:50342." [PMID:9024139, PMID:9323054, PRO:CNA, PRO:DAN]    Comment Note: This residue is located in the loop connecting segments S2 and S3.    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_001518 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000825 hKCNQ1/var:A178P UniProtKB:P51787, Ala-178, CHEBI:50342 | UniProtKB:P51787-1, Ala-178, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human) "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-178, CHEBI:50342." [PMID:9024139, PMID:9323054, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:2843 long QT syndrome PMID:10704188; PMID:9323054 enables NOT|contributes_to GO:0005251 delayed rectifier potassium channel activity PMID:10704188; PMID:9323054 located_in SO:0001559 polypeptide_loss_of_function_variant PMID:9323054