PRO Term |
GO Annotation |
Evidence |
PR:000000817 hKCNQ1/var:T587M UniProtKB:P51787, Thr-587, CHEBI:16044 | UniProtKB:P51787-1, Thr-587, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 1 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10024302; PMID:10704188 |
PR:000000818 hKCNQ1/var:S373P UniProtKB:P51787, Ser-373, CHEBI:50342 | UniProtKB:P51787-1, Ser-373, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 10 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220144; PMID:10704188 |
PR:000000819 hKCNQ1/var:R243C UniProtKB:P51787, Arg-243, CHEBI:29950 | UniProtKB:P51787-1, Arg-243, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10409658; PMID:10704188 |
enables | altered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:10409658 |
PR:000000820 hKCNQ1/var:D317N UniProtKB:P51787, Asp-317, CHEBI:50347 | UniProtKB:P51787-1, Asp-317, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9302275; PMID:9482580 |
PR:000000821 hKCNQ1/var:V310I UniProtKB:P51787, Val-310, CHEBI:30009 | UniProtKB:P51787-1, Val-310, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 13 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000822 hKCNQ1/var:S566F UniProtKB:P51787, Ser-566, CHEBI:29997 | UniProtKB:P51787-1, Ser-566, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ1 sequence variant 14 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000823 hKCNQ1/var:Y315C UniProtKB:P51787, Tyr-315, CHEBI:29950 | UniProtKB:P51787-1, Tyr-315, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 15 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9693036; PMID:9927399 |
PR:000000824 hKCNQ1/var:S225L UniProtKB:P51787, Ser-225, CHEBI:30006 | UniProtKB:P51787-1, Ser-225, CHEBI:30006 | voltage-gated potassium channel subunit KCNQ1 sequence variant 16 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9927399 |
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) |
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 |
PR:000000826 hKCNQ1/var:A178T UniProtKB:P51787, Ala-178, CHEBI:30013 | UniProtKB:P51787-1, Ala-178, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 18 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9024139 |
PR:000000827 hKCNQ1/var:G189R UniProtKB:P51787, Gly-189, CHEBI:29952 | UniProtKB:P51787-1, Gly-189, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 19 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220144; PMID:10704188 |
PR:000000828 hKCNQ1/var:P448R UniProtKB:P51787, Pro-448, CHEBI:29952 | UniProtKB:P51787-1, Pro-448, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 2 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000829 hKCNQ1/var:T309R UniProtKB:P51787, Thr-309, CHEBI:29952 | UniProtKB:P51787-1, Thr-309, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 20 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000830 hKCNQ1/var:R591H UniProtKB:P51787, Arg-591, CHEBI:29979 | UniProtKB:P51787-1, Arg-591, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 21 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10024302; PMID:10704188 |
PR:000000831 hKCNQ1/var:R366W UniProtKB:P51787, Arg-366, CHEBI:29954 | UniProtKB:P51787-1, Arg-366, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 22 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9693036 |
PR:000000832 hKCNQ1/var:I313M UniProtKB:P51787, Ile-313, CHEBI:16044 | UniProtKB:P51787-1, Ile-313, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 23 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9024139 |
PR:000000833 hKCNQ1/var:Y111C UniProtKB:P51787, Tyr-111, CHEBI:29950 | UniProtKB:P51787-1, Tyr-111, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 24 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000834 hKCNQ1/var:R533W UniProtKB:P51787, Arg-533, CHEBI:29954 | UniProtKB:P51787-1, Arg-533, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 25 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:10728423 |
enables | altered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:10704188; PMID:10728423 |
PR:000000835 hKCNQ1/var:G168R UniProtKB:P51787, Gly-168, CHEBI:29952 | UniProtKB:P51787-1, Gly-168, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 26 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9693036 |
PR:000000836 hKCNQ1/var:E261D UniProtKB:P51787, Glu-261, CHEBI:29958 | UniProtKB:P51787-1, Glu-261, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 27 (human) |
associated_with_disease_progression | DO:2842 Jervell-Lange Nielsen syndrome |
PMID:10704188 |
PR:000000837 hKCNQ1/var:A371T UniProtKB:P51787, Ala-371, CHEBI:30013 | UniProtKB:P51787-1, Ala-371, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 28 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000838 hKCNQ1/var:29 UniProtKB:P49747, 21-70, 74-757 | UniProtKB:P49747-1, 21-70, 74-757 |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10511610 |
PR:000000839 hKCNQ1/var:A341V UniProtKB:P51787, Ala-341, CHEBI:30015 | UniProtKB:P51787-1, Ala-341, CHEBI:30015 | voltage-gated potassium channel subunit KCNQ1 sequence variant 3 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:8818942; PMID:8872472; PMID:9570196 |
PR:000000840 hKCNQ1/var:L250H UniProtKB:P51787, Leu-250, CHEBI:29979 | UniProtKB:P51787-1, Leu-250, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 30 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000841 hKCNQ1/var:S349W UniProtKB:P51787, Ser-349, CHEBI:29954 | UniProtKB:P51787-1, Ser-349, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 31 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000842 hKCNQ1/var:T391I UniProtKB:P51787, Thr-391, CHEBI:30009 | UniProtKB:P51787-1, Thr-391, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 32 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000843 hKCNQ1/var:K318N UniProtKB:P51787, Lys-318, CHEBI:50347 | UniProtKB:P51787-1, Lys-318, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 33 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9693036 |
PR:000000844 hKCNQ1/var:A344V UniProtKB:P51787, Ala-344, CHEBI:30015 | UniProtKB:P51787-1, Ala-344, CHEBI:30015 | voltage-gated potassium channel subunit KCNQ1 sequence variant 34 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000845 hKCNQ1/var:A525T UniProtKB:P51787, Ala-525, CHEBI:30013 | UniProtKB:P51787-1, Ala-525, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 35 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10482963; PMID:10704188 |
PR:000000846 hKCNQ1/var:A341E UniProtKB:P51787, Ala-341, CHEBI:29972 | UniProtKB:P51787-1, Ala-341, CHEBI:29972 | voltage-gated potassium channel subunit KCNQ1 sequence variant 36 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
MP:0003233 prolonged QT interval |
PMID:15498462 |
PR:000000847 hKCNQ1/var:R583C UniProtKB:P51787, Arg-583, CHEBI:29950 | UniProtKB:P51787-1, Arg-583, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 37 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000848 hKCNQ1/var:D242N UniProtKB:P51787, Asp-242, CHEBI:50347 | UniProtKB:P51787-1, Asp-242, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 38 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000849 hKCNQ1/var:L342F UniProtKB:P51787, Leu-342, CHEBI:29997 | UniProtKB:P51787-1, Leu-342, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ1 sequence variant 39 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000850 hKCNQ1/var:G306R UniProtKB:P51787, Gly-306, CHEBI:29952 | UniProtKB:P51787-1, Gly-306, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 4 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000851 hKCNQ1/var:S140G UniProtKB:P51787, Ser-140, CHEBI:29947 | UniProtKB:P51787-1, Ser-140, CHEBI:29947 | voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human) |
associated_with_disease_progression | DO:0050650 familial atrial fibrillation |
PMID:12522251 |
enables | increased GO:0005267 potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:12522251 |
located_in | SO:0001557 polypeptide_gain_of_function_variant |
PMID:12522251 |
PR:000000852 hKCNQ1/var:G269S UniProtKB:P51787, Gly-269, CHEBI:29999 | UniProtKB:P51787-1, Gly-269, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 41 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000853 hKCNQ1/var:R555C UniProtKB:P51787, Arg-555, CHEBI:29950 | UniProtKB:P51787-1, Arg-555, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 42 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000854 hKCNQ1/var:R539W UniProtKB:P51787, Arg-539, CHEBI:29954 | UniProtKB:P51787-1, Arg-539, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10728423 |
enables | altered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:10728423 |
located_in | altered GO:0008076 voltage-gated potassium channel complex relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:10728423 |
PR:000000855 hKCNQ1/var:Y315S UniProtKB:P51787, Tyr-315, CHEBI:29999 | UniProtKB:P51787-1, Tyr-315, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 44 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220144; PMID:10704188 |
PR:000000856 hKCNQ1/var:R174H UniProtKB:P51787, Arg-174, CHEBI:29979 | UniProtKB:P51787-1, Arg-174, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 45 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10367071 |
PR:000000857 hKCNQ1/var:A194P UniProtKB:P51787, Ala-194, CHEBI:50342 | UniProtKB:P51787-1, Ala-194, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 46 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000858 hKCNQ1/var:Y184S UniProtKB:P51787, Tyr-184, CHEBI:29999 | UniProtKB:P51787-1, Tyr-184, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 47 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220144 |
PR:000000859 hKCNQ1/var:G345E UniProtKB:P51787, Gly-345, CHEBI:29972 | UniProtKB:P51787-1, Gly-345, CHEBI:29972 | voltage-gated potassium channel subunit KCNQ1 sequence variant 48 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000860 hKCNQ1/var:R190Q UniProtKB:P51787, Arg-190, CHEBI:30011 | UniProtKB:P51787-1, Arg-190, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:10728423 |
enables | NOT|contributes_to GO:0005251 delayed rectifier potassium channel activity |
PMID:10728423 |
located_in | NOT GO:0008076 voltage-gated potassium channel complex |
PMID:10728423 |
SO:0001559 polypeptide_loss_of_function_variant |
PMID:10704188; PMID:9482580 |
PR:000000861 hKCNQ1/var:T311I UniProtKB:P51787, Thr-311, CHEBI:30009 | UniProtKB:P51787-1, Thr-311, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 5 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9482580 |
PR:000000862 hKCNQ1/var:G314S UniProtKB:P51787, Gly-314, CHEBI:29999 | UniProtKB:P51787-1, Gly-314, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 50 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:8872472; PMID:9693036 |
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) |
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 |
PR:000000864 hKCNQ1/var:R366P UniProtKB:P51787, Arg-366, CHEBI:50342 | UniProtKB:P51787-1, Arg-366, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 52 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188; PMID:9024139 |
PR:000000865 hKCNQ1/var:R366Q UniProtKB:P51787, Arg-366, CHEBI:30011 | UniProtKB:P51787-1, Arg-366, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ1 sequence variant 53 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000866 hKCNQ1/var:E160K UniProtKB:P51787, Glu-160, CHEBI:29967 | UniProtKB:P51787-1, Glu-160, CHEBI:29967 | voltage-gated potassium channel subunit KCNQ1 sequence variant 54 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000867 hKCNQ1/var:V254M UniProtKB:P51787, Val-254, CHEBI:16044 | UniProtKB:P51787-1, Val-254, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 55 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000868 hKCNQ1/var:G345R UniProtKB:P51787, Gly-345, CHEBI:29952 | UniProtKB:P51787-1, Gly-345, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 56 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220144 |
PR:000000869 hKCNQ1/var:E261K UniProtKB:P51787, Glu-261, CHEBI:29967 | UniProtKB:P51787-1, Glu-261, CHEBI:29967 | voltage-gated potassium channel subunit KCNQ1 sequence variant 57 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10409658 |
enables | NOT|contributes_to GO:0005251 delayed rectifier potassium channel activity |
PMID:8900283 |
located_in | NOT GO:0008076 voltage-gated potassium channel complex |
PMID:8900283 |
PR:000000870 hKCNQ1/var:V307L UniProtKB:P51787, Val-307, CHEBI:30006 | UniProtKB:P51787-1, Val-307, CHEBI:30006 | voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human) |
associated_with_disease_progression | DO:0050793 short QT syndrome |
PMID:15159330 |
enables | increased GO:0005267 potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:15159330 |
located_in | SO:0001557 polypeptide_gain_of_function_variant |
PMID:15159330 |
PR:000000871 hKCNQ1/var:F339del UniProtKB:P49747, 21-338, 340-757 | UniProtKB:P49747-1, 21-338, 340-757 | voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human) | deltaF339 |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:15159330 |
PR:000000872 hKCNQ1/var:R243H UniProtKB:P51787, Arg-243, CHEBI:29979 | UniProtKB:P51787-1, Arg-243, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human) |
associated_with_disease_progression | DO:2842 Jervell-Lange Nielsen syndrome |
PMID:10728423 |
enables | decreased|contributes_to GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod |
PMID:10728423 |
located_in | GO:0008076 voltage-gated potassium channel complex |
PMID:10728423 |
PR:000000873 hKCNQ1/var:G179S UniProtKB:P51787, Gly-179, CHEBI:29999 | UniProtKB:P51787-1, Gly-179, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 60 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10728423 |
PR:000000874 hKCNQ1/var:A300T UniProtKB:P51787, Ala-300, CHEBI:30013 | UniProtKB:P51787-1, Ala-300, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 61 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9641694 |
enables | contributes_to GO:0005251 delayed rectifier potassium channel activity |
PMID:9641694 |
PR:000000875 hKCNQ1/var:R174C UniProtKB:P51787, Arg-174, CHEBI:29950 | UniProtKB:P51787-1, Arg-174, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 62 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000876 hKCNQ1/var:W305S UniProtKB:P51787, Trp-305, CHEBI:29999 | UniProtKB:P51787-1, Trp-305, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 63 (human) |
associated_with_disease_progression | DO:2842 Jervell-Lange Nielsen syndrome |
PMID:9781056 |
PR:000000877 hKCNQ1/var:L266P UniProtKB:P51787, Leu-266, CHEBI:50342 | UniProtKB:P51787-1, Leu-266, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 64 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000878 hKCNQ1/var:R594Q UniProtKB:P51787, Arg-594, CHEBI:30011 | UniProtKB:P51787-1, Arg-594, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ1 sequence variant 65 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000879 hKCNQ1/var:L273F UniProtKB:P51787, Leu-273, CHEBI:29997 | UniProtKB:P51787-1, Leu-273, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9323054 |
enables | contributes_to GO:0005251 delayed rectifier potassium channel activity |
PMID:9323054 |
located_in | SO:0001561 polypeptide_partial_loss_of_function |
PMID:9323054 |
PR:000000880 hKCNQ1/var:Y281C UniProtKB:P51787, Tyr-281, CHEBI:29950 | UniProtKB:P51787-1, Tyr-281, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 67 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9927399 |
PR:000000881 hKCNQ1/var:P320A UniProtKB:P51787, Pro-320, CHEBI:46217 | UniProtKB:P51787-1, Pro-320, CHEBI:46217 | voltage-gated potassium channel subunit KCNQ1 sequence variant 68 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000882 hKCNQ1/var:F157C UniProtKB:P51787, Phe-157, CHEBI:29950 | UniProtKB:P51787-1, Phe-157, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 69 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220146 |
PR:000000883 hKCNQ1/var:L353P UniProtKB:P51787, Leu-353, CHEBI:50342 | UniProtKB:P51787-1, Leu-353, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 7 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9693036 |
PR:000000884 hKCNQ1/var:G325R UniProtKB:P51787, Gly-325, CHEBI:29952 | UniProtKB:P51787-1, Gly-325, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 70 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9024139 |
PR:000000885 hKCNQ1/var:W392R UniProtKB:P51787, Trp-392, CHEBI:29952 | UniProtKB:P51787-1, Trp-392, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 71 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10220144 |
PR:000000886 hKCNQ1/var:G269D UniProtKB:P51787, Gly-269, CHEBI:29958 | UniProtKB:P51787-1, Gly-269, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 72 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000887 hKCNQ1/var:G589D UniProtKB:P51787, Gly-589, CHEBI:29958 | UniProtKB:P51787-1, Gly-589, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 73 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000888 hKCNQ1/var:G216R UniProtKB:P51787, Gly-216, CHEBI:29952 | UniProtKB:P51787-1, Gly-216, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 74 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:9272155 |
PR:000000889 hKCNQ1/var:V417M UniProtKB:P51787, Val-417, CHEBI:16044 | UniProtKB:P51787-1, Val-417, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 8 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10704188 |
PR:000000890 hKCNQ1/var:T312I UniProtKB:P51787, Thr-312, CHEBI:30009 | UniProtKB:P51787-1, Thr-312, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human) |
associated_with_disease_progression | DO:2843 long QT syndrome |
PMID:10409658; PMID:9323054 |
enables | NOT|contributes_to GO:0005251 delayed rectifier potassium channel activity |
PMID:10409658; PMID:9323054 |
located_in | SO:0001559 polypeptide_loss_of_function_variant |
PMID:10409658; PMID:9323054 |
PR:P51787-1 hKCNQ1/iso:1
|
enables | contributes_to GO:0005251 delayed rectifier potassium channel activity |
PMID:9312006 |
PR:P51787-2 hKCNQ1/iso:2 potassium voltage-gated channel subfamily KQT member 1 isoform TKvLQT1 (human) |
enables | contributes_to GO:0043267 negative regulation of potassium ion transport |
PMID:9305853 |