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:000000870 voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human) hKCNQ1/var:V307L|UniProtKB:P51787-1, Val-307, CHEBI:30006|voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human) associated_with_disease_progression DOID:0050793 short QT syndrome PMID:15159330 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_023841 20080601 PRO:CNA PR:000000870 voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human) hKCNQ1/var:V307L|UniProtKB:P51787-1, Val-307, CHEBI:30006|voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human) has_agent SO:0001557 polypeptide_gain_of_function_variant PMID:15159330 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_023841 20080601 PRO:CNA PR:000000870 voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human) hKCNQ1/var:V307L|UniProtKB:P51787-1, Val-307, CHEBI:30006|voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human) increased enables GO:0005267 potassium channel activity PR:000002622 PMID:15159330 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_023841 20080601 PRO:CNA