PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000000863 voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human) hKCNQ1/var:W248R|UniProtKB:P51787-1, Trp-248, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008942 20080601 PRO:CNA PR:000000863 voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human) hKCNQ1/var:W248R|UniProtKB:P51787-1, Trp-248, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human) has_agent SO:0001561 polypeptide_partial_loss_of_function PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008942 20080601 PRO:CNA PR:000000863 voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human) hKCNQ1/var:W248R|UniProtKB:P51787-1, Trp-248, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human) part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008942 20080601 PRO:CNA PR:000000863 voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human) hKCNQ1/var:W248R|UniProtKB:P51787-1, Trp-248, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human) altered|contributes_to enables GO:0005251 delayed rectifier potassium channel activity PR:000002622 PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008942 20080601 PRO:CNA