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 capable_of GO:0005267 potassium channel activity PR:000002622 PMID:15159330 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_023841 20080601 PRO:CNA PR:000000851 voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human) hKCNQ1/var:S140G|UniProtKB:P51787-1, Ser-140, CHEBI:29947|voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human) increased capable_of GO:0005267 potassium channel activity PR:000002622 PMID:12522251 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_015742 20080601 PRO:CNA PR:000000872 voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human) hKCNQ1/var:R243H|UniProtKB:P51787-1, Arg-243, CHEBI:29979|voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human) associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008941 20080601 PRO:CNA PR:000000876 voltage-gated potassium channel subunit KCNQ1 sequence variant W305S (human) hKCNQ1/var:W305S|UniProtKB:P51787-1, Trp-305, CHEBI:29999|voltage-gated potassium channel subunit KCNQ1 sequence variant 63 (human) associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:9781056 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001527 20080601 PRO:CNA PR:000000836 voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human) hKCNQ1/var:E261D|UniProtKB:P51787-1, Glu-261, CHEBI:29958|voltage-gated potassium channel subunit KCNQ1 sequence variant 27 (human) associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008944 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:000000879 voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human) hKCNQ1/var:L273F|UniProtKB:P51787-1, Leu-273, CHEBI:29997|voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human) has_agent SO:0001561 polypeptide_partial_loss_of_function PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001525 20080601 PRO:CNA PR:000000872 voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human) hKCNQ1/var:R243H|UniProtKB:P51787-1, Arg-243, CHEBI:29979|voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human) decreased|contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PR:000002622 PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008941 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 capable_of GO:0005251 delayed rectifier potassium channel activity PR:000002622 PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008942 20080601 PRO:CNA PR:000000869 voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human) hKCNQ1/var:E261K|UniProtKB:P51787-1, Glu-261, CHEBI:29967|voltage-gated potassium channel subunit KCNQ1 sequence variant 57 (human) NOT|contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:8900283 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001523 20080601 PRO:CNA PR:000000879 voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human) hKCNQ1/var:L273F|UniProtKB:P51787-1, Leu-273, CHEBI:29997|voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human) contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001525 20080601 PRO:CNA PR:000000819 voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human) hKCNQ1/var:R243C|UniProtKB:P51787-1, Arg-243, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human) altered capable_of GO:0005251 delayed rectifier potassium channel activity PR:000002622 PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_010933 20080601 PRO:CNA PR:000000874 voltage-gated potassium channel subunit KCNQ1 sequence variant A300T (human) hKCNQ1/var:A300T|UniProtKB:P51787-1, Ala-300, CHEBI:30013|voltage-gated potassium channel subunit KCNQ1 sequence variant 61 (human) contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:9641694 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001526 20080601 PRO:CNA PR:000000854 voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human) hKCNQ1/var:R539W|UniProtKB:P51787-1, Arg-539, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human) altered capable_of GO:0005251 delayed rectifier potassium channel activity PR:000002622 PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008950 20080601 PRO:CNA PR:000000825 voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human) hKCNQ1/var:A178P|UniProtKB:P51787-1, Ala-178, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human) NOT|contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10704188|PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001518 20080601 PRO:CNA PR:000000834 voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human) hKCNQ1/var:R533W|UniProtKB:P51787-1, Arg-533, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 25 (human) altered capable_of GO:0005251 delayed rectifier potassium channel activity PR:000002622 PMID:10704188|PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008949 20080601 PRO:CNA PR:000000860 voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human) hKCNQ1/var:R190Q|UniProtKB:P51787-1, Arg-190, CHEBI:30011|voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human) NOT|contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001520 20080601 PRO:CNA PR:000000890 voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human) hKCNQ1/var:T312I|UniProtKB:P51787-1, Thr-312, CHEBI:30009|voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human) NOT|contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10409658|PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001530 20080601 PRO:CNA PR:P51787-1 potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human) hKCNQ1/iso:1 contributes_to capable_of GO:0005251 delayed rectifier potassium channel activity PMID:9312006 IDA NCBITaxon:9606 UniProtKB:P51787-1 20080601 PRO:CNA PR:000000890 voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human) hKCNQ1/var:T312I|UniProtKB:P51787-1, Thr-312, CHEBI:30009|voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human) has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:10409658|PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001530 20080601 PRO:CNA PR:000000860 voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human) hKCNQ1/var:R190Q|UniProtKB:P51787-1, Arg-190, CHEBI:30011|voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human) has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:10704188|PMID:9482580 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001520 20080601 PRO:CNA PR:000000825 voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human) hKCNQ1/var:A178P|UniProtKB:P51787-1, Ala-178, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human) has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001518 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:000000851 voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human) hKCNQ1/var:S140G|UniProtKB:P51787-1, Ser-140, CHEBI:29947|voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human) has_agent SO:0001557 polypeptide_gain_of_function_variant PMID:12522251 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_015742 20080601 PRO:CNA PR:000000846 voltage-gated potassium channel subunit KCNQ1 sequence variant A341E (human) hKCNQ1/var:A341E|UniProtKB:P51787-1, Ala-341, CHEBI:29972|voltage-gated potassium channel subunit KCNQ1 sequence variant 36 (human) associated_with_disease_progression MP:0003233 prolonged QT interval PMID:15498462 IMP NCBITaxon:10090 MGI:3056651 20080601 PRO:CNA PR:P51787-2 potassium voltage-gated channel subfamily KQT member 1 isoform 2 (human) hKCNQ1/iso:2|potassium voltage-gated channel subfamily KQT member 1 isoform TKvLQT1 (human) contributes_to capable_of GO:0043267 negative regulation of potassium ion transport PMID:9305853 IDA NCBITaxon:9606 UniProtKB:P51787-2 20080601 PRO:CNA PR:000000851 voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human) hKCNQ1/var:S140G|UniProtKB:P51787-1, Ser-140, CHEBI:29947|voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human) associated_with_disease_progression DOID:0050650 familial atrial fibrillation PMID:12522251 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_015742 20080601 PRO:CNA PR:000000859 voltage-gated potassium channel subunit KCNQ1 sequence variant G345E (human) hKCNQ1/var:G345E|UniProtKB:P51787-1, Gly-345, CHEBI:29972|voltage-gated potassium channel subunit KCNQ1 sequence variant 48 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001542 20080601 PRO:CNA PR:000000866 voltage-gated potassium channel subunit KCNQ1 sequence variant E160K (human) hKCNQ1/var:E160K|UniProtKB:P51787-1, Glu-160, CHEBI:29967|voltage-gated potassium channel subunit KCNQ1 sequence variant 54 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009919 20080601 PRO:CNA PR:000000839 voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human) hKCNQ1/var:A341V|UniProtKB:P51787-1, Ala-341, CHEBI:30015|voltage-gated potassium channel subunit KCNQ1 sequence variant 3 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:8818942|PMID:8872472|PMID:9570196 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001539 20080601 PRO:CNA PR:000000822 voltage-gated potassium channel subunit KCNQ1 sequence variant S566F (human) hKCNQ1/var:S566F|UniProtKB:P51787-1, Ser-566, CHEBI:29997|voltage-gated potassium channel subunit KCNQ1 sequence variant 14 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009932 20080601 PRO:CNA PR:000000817 voltage-gated potassium channel subunit KCNQ1 sequence variant T587M (human) hKCNQ1/var:T587M|UniProtKB:P51787-1, Thr-587, CHEBI:16044|voltage-gated potassium channel subunit KCNQ1 sequence variant 1 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10024302|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008951 20080601 PRO:CNA PR:000000884 voltage-gated potassium channel subunit KCNQ1 sequence variant G325R (human) hKCNQ1/var:G325R|UniProtKB:P51787-1, Gly-325, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 70 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9024139 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001536 20080601 PRO:CNA PR:000000837 voltage-gated potassium channel subunit KCNQ1 sequence variant A371T (human) hKCNQ1/var:A371T|UniProtKB:P51787-1, Ala-371, CHEBI:30013|voltage-gated potassium channel subunit KCNQ1 sequence variant 28 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001544 20080601 PRO:CNA PR:000000823 voltage-gated potassium channel subunit KCNQ1 sequence variant Y315C (human) hKCNQ1/var:Y315C|UniProtKB:P51787-1, Tyr-315, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 15 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9693036|PMID:9927399 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008946 20080601 PRO:CNA PR:000000881 voltage-gated potassium channel subunit KCNQ1 sequence variant P320A (human) hKCNQ1/var:P320A|UniProtKB:P51787-1, Pro-320, CHEBI:46217|voltage-gated potassium channel subunit KCNQ1 sequence variant 68 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001535 20080601 PRO:CNA PR:000000890 voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human) hKCNQ1/var:T312I|UniProtKB:P51787-1, Thr-312, CHEBI:30009|voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658|PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001530 20080601 PRO:CNA PR:000000827 voltage-gated potassium channel subunit KCNQ1 sequence variant G189R (human) hKCNQ1/var:G189R|UniProtKB:P51787-1, Gly-189, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 19 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001519 20080601 PRO:CNA PR:000000883 voltage-gated potassium channel subunit KCNQ1 sequence variant L353P (human) hKCNQ1/var:L353P|UniProtKB:P51787-1, Leu-353, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 7 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9693036 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009180 20080601 PRO:CNA PR:000000858 voltage-gated potassium channel subunit KCNQ1 sequence variant Y184S (human) hKCNQ1/var:Y184S|UniProtKB:P51787-1, Tyr-184, CHEBI:29999|voltage-gated potassium channel subunit KCNQ1 sequence variant 47 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008125 20080601 PRO:CNA PR:000000838 voltage-gated potassium channel subunit KCNQ1 sequence variant 29 (human) hKCNQ1/var:29|UniProtKB:P49747-1, 21-70, 74-757 associated_with_disease_progression DOID:2843 long QT syndrome PMID:10511610 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009917 20080601 PRO:CNA PR:000000842 voltage-gated potassium channel subunit KCNQ1 sequence variant T391I (human) hKCNQ1/var:T391I|UniProtKB:P51787-1, Thr-391, CHEBI:30009|voltage-gated potassium channel subunit KCNQ1 sequence variant 32 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009930 20080601 PRO:CNA PR:000000864 voltage-gated potassium channel subunit KCNQ1 sequence variant R366P (human) hKCNQ1/var:R366P|UniProtKB:P51787-1, Arg-366, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 52 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9024139 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001543 20080601 PRO:CNA PR:000000878 voltage-gated potassium channel subunit KCNQ1 sequence variant R594Q (human) hKCNQ1/var:R594Q|UniProtKB:P51787-1, Arg-594, CHEBI:30011|voltage-gated potassium channel subunit KCNQ1 sequence variant 65 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009934 20080601 PRO:CNA PR:000000844 voltage-gated potassium channel subunit KCNQ1 sequence variant A344V (human) hKCNQ1/var:A344V|UniProtKB:P51787-1, Ala-344, CHEBI:30015|voltage-gated potassium channel subunit KCNQ1 sequence variant 34 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001541 20080601 PRO:CNA PR:000000825 voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human) hKCNQ1/var:A178P|UniProtKB:P51787-1, Ala-178, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001518 20080601 PRO:CNA PR:000000818 voltage-gated potassium channel subunit KCNQ1 sequence variant S373P (human) hKCNQ1/var:S373P|UniProtKB:P51787-1, Ser-373, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 10 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008127 20080601 PRO:CNA PR:000000857 voltage-gated potassium channel subunit KCNQ1 sequence variant A194P (human) hKCNQ1/var:A194P|UniProtKB:P51787-1, Ala-194, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 46 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009922 20080601 PRO:CNA PR:000000868 voltage-gated potassium channel subunit KCNQ1 sequence variant G345R (human) hKCNQ1/var:G345R|UniProtKB:P51787-1, Gly-345, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 56 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008126 20080601 PRO:CNA PR:000000821 voltage-gated potassium channel subunit KCNQ1 sequence variant V310I (human) hKCNQ1/var:V310I|UniProtKB:P51787-1, Val-310, CHEBI:30009|voltage-gated potassium channel subunit KCNQ1 sequence variant 13 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009926 20080601 PRO:CNA PR:000000829 voltage-gated potassium channel subunit KCNQ1 sequence variant T309R (human) hKCNQ1/var:T309R|UniProtKB:P51787-1, Thr-309, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 20 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001529 20080601 PRO:CNA PR:000000850 voltage-gated potassium channel subunit KCNQ1 sequence variant G306R (human) hKCNQ1/var:G306R|UniProtKB:P51787-1, Gly-306, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 4 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001528 20080601 PRO:CNA PR:000000833 voltage-gated potassium channel subunit KCNQ1 sequence variant Y111C (human) hKCNQ1/var:Y111C|UniProtKB:P51787-1, Tyr-111, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 24 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009918 20080601 PRO:CNA PR:000000882 voltage-gated potassium channel subunit KCNQ1 sequence variant F157C (human) hKCNQ1/var:F157C|UniProtKB:P51787-1, Phe-157, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 69 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220146 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008124 20080601 PRO:CNA PR:000000860 voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human) hKCNQ1/var:R190Q|UniProtKB:P51787-1, Arg-190, CHEBI:30011|voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001520 20080601 PRO:CNA PR:000000877 voltage-gated potassium channel subunit KCNQ1 sequence variant L266P (human) hKCNQ1/var:L266P|UniProtKB:P51787-1, Leu-266, CHEBI:50342|voltage-gated potassium channel subunit KCNQ1 sequence variant 64 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009924 20080601 PRO:CNA PR:000000835 voltage-gated potassium channel subunit KCNQ1 sequence variant G168R (human) hKCNQ1/var:G168R|UniProtKB:P51787-1, Gly-168, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 26 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9693036 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001516 20080601 PRO:CNA PR:000000855 voltage-gated potassium channel subunit KCNQ1 sequence variant Y315S (human) hKCNQ1/var:Y315S|UniProtKB:P51787-1, Tyr-315, CHEBI:29999|voltage-gated potassium channel subunit KCNQ1 sequence variant 44 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001533 20080601 PRO:CNA PR:000000843 voltage-gated potassium channel subunit KCNQ1 sequence variant K318N (human) hKCNQ1/var:K318N|UniProtKB:P51787-1, Lys-318, CHEBI:50347|voltage-gated potassium channel subunit KCNQ1 sequence variant 33 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9693036 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008947 20080601 PRO:CNA PR:000000849 voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human) hKCNQ1/var:L342F|UniProtKB:P51787-1, Leu-342, CHEBI:29997|voltage-gated potassium channel subunit KCNQ1 sequence variant 39 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001540 20080601 PRO:CNA PR:000000828 voltage-gated potassium channel subunit KCNQ1 sequence variant P448R (human) hKCNQ1/var:P448R|UniProtKB:P51787-1, Pro-448, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 2 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009931 20080601 PRO:CNA PR:000000887 voltage-gated potassium channel subunit KCNQ1 sequence variant G589D (human) hKCNQ1/var:G589D|UniProtKB:P51787-1, Gly-589, CHEBI:29958|voltage-gated potassium channel subunit KCNQ1 sequence variant 73 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008952 20080601 PRO:CNA PR:000000819 voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human) hKCNQ1/var:R243C|UniProtKB:P51787-1, Arg-243, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_010933 20080601 PRO:CNA PR:000000820 voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human) hKCNQ1/var:D317N|UniProtKB:P51787-1, Asp-317, CHEBI:50347|voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9302275|PMID:9482580 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001534 20080601 PRO:CNA PR:000000880 voltage-gated potassium channel subunit KCNQ1 sequence variant Y281C (human) hKCNQ1/var:Y281C|UniProtKB:P51787-1, Tyr-281, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 67 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9927399 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008945 20080601 PRO:CNA PR:000000852 voltage-gated potassium channel subunit KCNQ1 sequence variant G269S (human) hKCNQ1/var:G269S|UniProtKB:P51787-1, Gly-269, CHEBI:29999|voltage-gated potassium channel subunit KCNQ1 sequence variant 41 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009925 20080601 PRO:CNA PR:000000832 voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human) hKCNQ1/var:I313M|UniProtKB:P51787-1, Ile-313, CHEBI:16044|voltage-gated potassium channel subunit KCNQ1 sequence variant 23 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9024139 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001531 20080601 PRO:CNA PR:000000875 voltage-gated potassium channel subunit KCNQ1 sequence variant R174C (human) hKCNQ1/var:R174C|UniProtKB:P51787-1, Arg-174, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 62 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001517 20080601 PRO:CNA PR:000000846 voltage-gated potassium channel subunit KCNQ1 sequence variant A341E (human) hKCNQ1/var:A341E|UniProtKB:P51787-1, Ala-341, CHEBI:29972|voltage-gated potassium channel subunit KCNQ1 sequence variant 36 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001538 20080601 PRO:CNA PR:000000854 voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human) hKCNQ1/var:R539W|UniProtKB:P51787-1, Arg-539, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008950 20080601 PRO:CNA PR:000000856 voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human) hKCNQ1/var:R174H|UniProtKB:P51787-1, Arg-174, CHEBI:29979|voltage-gated potassium channel subunit KCNQ1 sequence variant 45 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10367071 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008939 20080601 PRO:CNA PR:000000886 voltage-gated potassium channel subunit KCNQ1 sequence variant G269D (human) hKCNQ1/var:G269D|UniProtKB:P51787-1, Gly-269, CHEBI:29958|voltage-gated potassium channel subunit KCNQ1 sequence variant 72 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001524 20080601 PRO:CNA PR:000000861 voltage-gated potassium channel subunit KCNQ1 sequence variant T311I (human) hKCNQ1/var:T311I|UniProtKB:P51787-1, Thr-311, CHEBI:30009|voltage-gated potassium channel subunit KCNQ1 sequence variant 5 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9482580 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009927 20080601 PRO:CNA PR:000000853 voltage-gated potassium channel subunit KCNQ1 sequence variant R555C (human) hKCNQ1/var:R555C|UniProtKB:P51787-1, Arg-555, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 42 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001545 20080601 PRO:CNA PR:000000867 voltage-gated potassium channel subunit KCNQ1 sequence variant V254M (human) hKCNQ1/var:V254M|UniProtKB:P51787-1, Val-254, CHEBI:16044|voltage-gated potassium channel subunit KCNQ1 sequence variant 55 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001522 20080601 PRO:CNA PR:000000845 voltage-gated potassium channel subunit KCNQ1 sequence variant A525T (human) hKCNQ1/var:A525T|UniProtKB:P51787-1, Ala-525, CHEBI:30013|voltage-gated potassium channel subunit KCNQ1 sequence variant 35 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10482963|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009181 20080601 PRO:CNA PR:000000885 voltage-gated potassium channel subunit KCNQ1 sequence variant W392R (human) hKCNQ1/var:W392R|UniProtKB:P51787-1, Trp-392, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 71 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10220144 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008128 20080601 PRO:CNA PR:000000874 voltage-gated potassium channel subunit KCNQ1 sequence variant A300T (human) hKCNQ1/var:A300T|UniProtKB:P51787-1, Ala-300, CHEBI:30013|voltage-gated potassium channel subunit KCNQ1 sequence variant 61 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9641694 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001526 20080601 PRO:CNA PR:000000847 voltage-gated potassium channel subunit KCNQ1 sequence variant R583C (human) hKCNQ1/var:R583C|UniProtKB:P51787-1, Arg-583, CHEBI:29950|voltage-gated potassium channel subunit KCNQ1 sequence variant 37 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009933 20080601 PRO:CNA PR:000000879 voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human) hKCNQ1/var:L273F|UniProtKB:P51787-1, Leu-273, CHEBI:29997|voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9323054 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001525 20080601 PRO:CNA PR:000000862 voltage-gated potassium channel subunit KCNQ1 sequence variant G314S (human) hKCNQ1/var:G314S|UniProtKB:P51787-1, Gly-314, CHEBI:29999|voltage-gated potassium channel subunit KCNQ1 sequence variant 50 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:8872472|PMID:9693036 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001532 20080601 PRO:CNA PR:000000889 voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human) hKCNQ1/var:V417M|UniProtKB:P51787-1, Val-417, CHEBI:16044|voltage-gated potassium channel subunit KCNQ1 sequence variant 8 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_010934 20080601 PRO:CNA PR:000000865 voltage-gated potassium channel subunit KCNQ1 sequence variant R366Q (human) hKCNQ1/var:R366Q|UniProtKB:P51787-1, Arg-366, CHEBI:30011|voltage-gated potassium channel subunit KCNQ1 sequence variant 53 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009929 20080601 PRO:CNA PR:000000848 voltage-gated potassium channel subunit KCNQ1 sequence variant D242N (human) hKCNQ1/var:D242N|UniProtKB:P51787-1, Asp-242, CHEBI:50347|voltage-gated potassium channel subunit KCNQ1 sequence variant 38 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008940 20080601 PRO:CNA PR:000000834 voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human) hKCNQ1/var:R533W|UniProtKB:P51787-1, Arg-533, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 25 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008949 20080601 PRO:CNA PR:000000841 voltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human) hKCNQ1/var:S349W|UniProtKB:P51787-1, Ser-349, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 31 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009928 20080601 PRO:CNA PR:000000873 voltage-gated potassium channel subunit KCNQ1 sequence variant G179S (human) hKCNQ1/var:G179S|UniProtKB:P51787-1, Gly-179, CHEBI:29999|voltage-gated potassium channel subunit KCNQ1 sequence variant 60 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009921 20080601 PRO:CNA PR:000000871 voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human) deltaF339|hKCNQ1/var:F339del|UniProtKB:P49747-1, 21-338, 340-757|voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:15159330 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001537 20080601 PRO:CNA PR:000000869 voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human) hKCNQ1/var:E261K|UniProtKB:P51787-1, Glu-261, CHEBI:29967|voltage-gated potassium channel subunit KCNQ1 sequence variant 57 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001523 20080601 PRO:CNA PR:000000826 voltage-gated potassium channel subunit KCNQ1 sequence variant A178T (human) hKCNQ1/var:A178T|UniProtKB:P51787-1, Ala-178, CHEBI:30013|voltage-gated potassium channel subunit KCNQ1 sequence variant 18 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9024139 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009920 20080601 PRO:CNA PR:000000830 voltage-gated potassium channel subunit KCNQ1 sequence variant R591H (human) hKCNQ1/var:R591H|UniProtKB:P51787-1, Arg-591, CHEBI:29979|voltage-gated potassium channel subunit KCNQ1 sequence variant 21 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10024302|PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008953 20080601 PRO:CNA PR:000000824 voltage-gated potassium channel subunit KCNQ1 sequence variant S225L (human) hKCNQ1/var:S225L|UniProtKB:P51787-1, Ser-225, CHEBI:30006|voltage-gated potassium channel subunit KCNQ1 sequence variant 16 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9927399 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_009923 20080601 PRO:CNA PR:000000888 voltage-gated potassium channel subunit KCNQ1 sequence variant G216R (human) hKCNQ1/var:G216R|UniProtKB:P51787-1, Gly-216, CHEBI:29952|voltage-gated potassium channel subunit KCNQ1 sequence variant 74 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:9272155 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001521 20080601 PRO:CNA PR:000000840 voltage-gated potassium channel subunit KCNQ1 sequence variant L250H (human) hKCNQ1/var:L250H|UniProtKB:P51787-1, Leu-250, CHEBI:29979|voltage-gated potassium channel subunit KCNQ1 sequence variant 30 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008943 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) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008942 20080601 PRO:CNA PR:000000831 voltage-gated potassium channel subunit KCNQ1 sequence variant R366W (human) hKCNQ1/var:R366W|UniProtKB:P51787-1, Arg-366, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 22 (human) associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188|PMID:9693036 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008948 20080601 PRO:CNA PR:000000854 voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human) hKCNQ1/var:R539W|UniProtKB:P51787-1, Arg-539, CHEBI:29954|voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human) altered part_of GO:0008076 voltage-gated potassium channel complex PR:000002622 PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008950 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:000000872 voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human) hKCNQ1/var:R243H|UniProtKB:P51787-1, Arg-243, CHEBI:29979|voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human) part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_008941 20080601 PRO:CNA PR:000000869 voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human) hKCNQ1/var:E261K|UniProtKB:P51787-1, Glu-261, CHEBI:29967|voltage-gated potassium channel subunit KCNQ1 sequence variant 57 (human) NOT part_of GO:0008076 voltage-gated potassium channel complex PMID:8900283 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001523 20080601 PRO:CNA PR:000000860 voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human) hKCNQ1/var:R190Q|UniProtKB:P51787-1, Arg-190, CHEBI:30011|voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human) NOT part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_001520 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) associated_with_disease_progression DOID:0050793 short QT syndrome PMID:15159330 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_023841 20080601 PRO:CNA