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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human) PR:000000863 - http://purl.obolibrary.org/obo/PR_000000863        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000863      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:W248R PRO-proteoform-std: EXACT: UniProtKB:P51787, Trp-248, CHEBI:29952 NARROW: UniProtKB:P51787-1, Trp-248, CHEBI:29952 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-248 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952." [PMID:10409658, PRO:CNA, PRO:DAN]    Comment Note: This residue is located within segment S4. This amino acid change affects the interaction with other channel subunits.    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_008942 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000863 hKCNQ1/var:W248R UniProtKB:P51787, Trp-248, CHEBI:29952 | UniProtKB:P51787-1, Trp-248, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human) "A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-248 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952." [PMID:10409658, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:2843 long QT syndrome PMID:10409658 enables altered|contributes_to GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10409658 located_in GO:0008076 voltage-gated potassium channel complex PMID:10728423 SO:0001561 polypeptide_partial_loss_of_function PMID:10409658