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Protein Ontology report - potassium voltage-gated channel subfamily KQT member 1 (human)
PR:P51787 - http://purl.obolibrary.org/obo/PR_P51787
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:P51787   
  PRO namepotassium voltage-gated channel subfamily KQT member 1 (human) 
  Synonyms
PRO-Short-label: EXACT:hKCNQ1
Gene-based: RELATED:KCNA8 | KCNA9 | KCNQ1 | KVLQT1
Other: EXACT:IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 (human) | KQT-like 1 (human) | voltage-gated potassium channel subunit Kv7.1 (human)
  Definition"A voltage-gated potassium channel subunit KCNQ1 that is encoded in the genome of human." [PRO:CNA, UniProtKB:P51787] 
  PRO Categoryorganism-gene 
  ParentPR:000000728 voltage-gated potassium channel subunit KCNQ1
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:6294 KCNQ1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 76                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:P51787
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
organism-gene


PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)
hKCNQ1

organism-sequence


PR:000000817 voltage-gated potassium channel subunit KCNQ1 sequence variant T587M (human)
hKCNQ1/var:T587M
Yes
organism-sequence


PR:000000818 voltage-gated potassium channel subunit KCNQ1 sequence variant S373P (human)
hKCNQ1/var:S373P
Yes
organism-sequence


PR:000000819 voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human)
hKCNQ1/var:R243C
Yes
organism-sequence


PR:000000820 voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human)
hKCNQ1/var:D317N
Yes
organism-sequence


PR:000000821 voltage-gated potassium channel subunit KCNQ1 sequence variant V310I (human)
hKCNQ1/var:V310I
Yes
organism-sequence


PR:000000822 voltage-gated potassium channel subunit KCNQ1 sequence variant S566F (human)
hKCNQ1/var:S566F
Yes
organism-sequence


PR:000000823 voltage-gated potassium channel subunit KCNQ1 sequence variant Y315C (human)
hKCNQ1/var:Y315C
Yes
organism-sequence


PR:000000824 voltage-gated potassium channel subunit KCNQ1 sequence variant S225L (human)
hKCNQ1/var:S225L
Yes
organism-sequence


PR:000000825 voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human)
hKCNQ1/var:A178P
Yes
organism-sequence


PR:000000826 voltage-gated potassium channel subunit KCNQ1 sequence variant A178T (human)
hKCNQ1/var:A178T
Yes
organism-sequence


PR:000000827 voltage-gated potassium channel subunit KCNQ1 sequence variant G189R (human)
hKCNQ1/var:G189R
Yes
organism-sequence


PR:000000828 voltage-gated potassium channel subunit KCNQ1 sequence variant P448R (human)
hKCNQ1/var:P448R
Yes
organism-sequence


PR:000000829 voltage-gated potassium channel subunit KCNQ1 sequence variant T309R (human)
hKCNQ1/var:T309R
Yes
organism-sequence


PR:000000830 voltage-gated potassium channel subunit KCNQ1 sequence variant R591H (human)
hKCNQ1/var:R591H
Yes
organism-sequence


PR:000000831 voltage-gated potassium channel subunit KCNQ1 sequence variant R366W (human)
hKCNQ1/var:R366W
Yes
organism-sequence


PR:000000832 voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human)
hKCNQ1/var:I313M
Yes
organism-sequence


PR:000000833 voltage-gated potassium channel subunit KCNQ1 sequence variant Y111C (human)
hKCNQ1/var:Y111C
Yes
organism-sequence


PR:000000834 voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human)
hKCNQ1/var:R533W
Yes
organism-sequence


PR:000000835 voltage-gated potassium channel subunit KCNQ1 sequence variant G168R (human)
hKCNQ1/var:G168R
Yes
organism-sequence


PR:000000836 voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human)
hKCNQ1/var:E261D
Yes
organism-sequence


PR:000000837 voltage-gated potassium channel subunit KCNQ1 sequence variant A371T (human)
hKCNQ1/var:A371T
Yes
organism-sequence


PR:000000838 voltage-gated potassium channel subunit KCNQ1 sequence variant 29 (human)
hKCNQ1/var:29
Yes
organism-sequence


PR:000000839 voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human)
hKCNQ1/var:A341V
Yes
organism-sequence


PR:000000840 voltage-gated potassium channel subunit KCNQ1 sequence variant L250H (human)
hKCNQ1/var:L250H
Yes
organism-sequence


PR:000000841 voltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human)
hKCNQ1/var:S349W
Yes
organism-sequence


PR:000000842 voltage-gated potassium channel subunit KCNQ1 sequence variant T391I (human)
hKCNQ1/var:T391I
Yes
organism-sequence


PR:000000843 voltage-gated potassium channel subunit KCNQ1 sequence variant K318N (human)
hKCNQ1/var:K318N
Yes
organism-sequence


PR:000000844 voltage-gated potassium channel subunit KCNQ1 sequence variant A344V (human)
hKCNQ1/var:A344V
Yes
organism-sequence


PR:000000845 voltage-gated potassium channel subunit KCNQ1 sequence variant A525T (human)
hKCNQ1/var:A525T
Yes
organism-sequence


PR:000000846 voltage-gated potassium channel subunit KCNQ1 sequence variant A341E (human)
hKCNQ1/var:A341E
Yes
organism-sequence


PR:000000847 voltage-gated potassium channel subunit KCNQ1 sequence variant R583C (human)
hKCNQ1/var:R583C
Yes
organism-sequence


PR:000000848 voltage-gated potassium channel subunit KCNQ1 sequence variant D242N (human)
hKCNQ1/var:D242N
Yes
organism-sequence


PR:000000849 voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human)
hKCNQ1/var:L342F
Yes
organism-sequence


PR:000000850 voltage-gated potassium channel subunit KCNQ1 sequence variant G306R (human)
hKCNQ1/var:G306R
Yes
organism-sequence


PR:000000851 voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
hKCNQ1/var:S140G
Yes
organism-sequence


PR:000000852 voltage-gated potassium channel subunit KCNQ1 sequence variant G269S (human)
hKCNQ1/var:G269S
Yes
organism-sequence


PR:000000853 voltage-gated potassium channel subunit KCNQ1 sequence variant R555C (human)
hKCNQ1/var:R555C
Yes
organism-sequence


PR:000000854 voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human)
hKCNQ1/var:R539W
Yes
organism-sequence


PR:000000855 voltage-gated potassium channel subunit KCNQ1 sequence variant Y315S (human)
hKCNQ1/var:Y315S
Yes
organism-sequence


PR:000000856 voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human)
hKCNQ1/var:R174H
Yes
organism-sequence


PR:000000857 voltage-gated potassium channel subunit KCNQ1 sequence variant A194P (human)
hKCNQ1/var:A194P
Yes
organism-sequence


PR:000000858 voltage-gated potassium channel subunit KCNQ1 sequence variant Y184S (human)
hKCNQ1/var:Y184S
Yes
organism-sequence


PR:000000859 voltage-gated potassium channel subunit KCNQ1 sequence variant G345E (human)
hKCNQ1/var:G345E
Yes
organism-sequence


PR:000000860 voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)
hKCNQ1/var:R190Q
Yes
organism-sequence


PR:000000861 voltage-gated potassium channel subunit KCNQ1 sequence variant T311I (human)
hKCNQ1/var:T311I
Yes
organism-sequence


PR:000000862 voltage-gated potassium channel subunit KCNQ1 sequence variant G314S (human)
hKCNQ1/var:G314S
Yes
organism-sequence


PR:000000863 voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)
hKCNQ1/var:W248R
Yes
organism-sequence


PR:000000864 voltage-gated potassium channel subunit KCNQ1 sequence variant R366P (human)
hKCNQ1/var:R366P
Yes
organism-sequence


PR:000000865 voltage-gated potassium channel subunit KCNQ1 sequence variant R366Q (human)
hKCNQ1/var:R366Q
Yes
organism-sequence


PR:000000866 voltage-gated potassium channel subunit KCNQ1 sequence variant E160K (human)
hKCNQ1/var:E160K
Yes
organism-sequence


PR:000000867 voltage-gated potassium channel subunit KCNQ1 sequence variant V254M (human)
hKCNQ1/var:V254M
Yes
organism-sequence


PR:000000868 voltage-gated potassium channel subunit KCNQ1 sequence variant G345R (human)
hKCNQ1/var:G345R
Yes
organism-sequence


PR:000000869 voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human)
hKCNQ1/var:E261K
Yes
organism-sequence


PR:000000870 voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
hKCNQ1/var:V307L
Yes
organism-sequence


PR:000000871 voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
hKCNQ1/var:F339del
Yes
organism-sequence


PR:000000872 voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human)
hKCNQ1/var:R243H
Yes
organism-sequence


PR:000000873 voltage-gated potassium channel subunit KCNQ1 sequence variant G179S (human)
hKCNQ1/var:G179S
Yes
organism-sequence


PR:000000874 voltage-gated potassium channel subunit KCNQ1 sequence variant A300T (human)
hKCNQ1/var:A300T
Yes
organism-sequence


PR:000000875 voltage-gated potassium channel subunit KCNQ1 sequence variant R174C (human)
hKCNQ1/var:R174C
Yes
organism-sequence


PR:000000876 voltage-gated potassium channel subunit KCNQ1 sequence variant W305S (human)
hKCNQ1/var:W305S
Yes
organism-sequence


PR:000000877 voltage-gated potassium channel subunit KCNQ1 sequence variant L266P (human)
hKCNQ1/var:L266P
Yes
organism-sequence


PR:000000878 voltage-gated potassium channel subunit KCNQ1 sequence variant R594Q (human)
hKCNQ1/var:R594Q
Yes
organism-sequence


PR:000000879 voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human)
hKCNQ1/var:L273F
Yes
organism-sequence


PR:000000880 voltage-gated potassium channel subunit KCNQ1 sequence variant Y281C (human)
hKCNQ1/var:Y281C
Yes
organism-sequence


PR:000000881 voltage-gated potassium channel subunit KCNQ1 sequence variant P320A (human)
hKCNQ1/var:P320A
Yes
organism-sequence


PR:000000882 voltage-gated potassium channel subunit KCNQ1 sequence variant F157C (human)
hKCNQ1/var:F157C
Yes
organism-sequence


PR:000000883 voltage-gated potassium channel subunit KCNQ1 sequence variant L353P (human)
hKCNQ1/var:L353P
Yes
organism-sequence


PR:000000884 voltage-gated potassium channel subunit KCNQ1 sequence variant G325R (human)
hKCNQ1/var:G325R
Yes
organism-sequence


PR:000000885 voltage-gated potassium channel subunit KCNQ1 sequence variant W392R (human)
hKCNQ1/var:W392R
Yes
organism-sequence


PR:000000886 voltage-gated potassium channel subunit KCNQ1 sequence variant G269D (human)
hKCNQ1/var:G269D
Yes
organism-sequence


PR:000000887 voltage-gated potassium channel subunit KCNQ1 sequence variant G589D (human)
hKCNQ1/var:G589D
Yes
organism-sequence


PR:000000888 voltage-gated potassium channel subunit KCNQ1 sequence variant G216R (human)
hKCNQ1/var:G216R
Yes
organism-sequence


PR:000000889 voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human)
hKCNQ1/var:V417M
Yes
organism-sequence


PR:000000890 voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
hKCNQ1/var:T312I
Yes
organism-sequence


PR:P51787-1 potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human)
hKCNQ1/iso:1
Yes
organism-sequence


PR:P51787-2 potassium voltage-gated channel subfamily KQT member 1 isoform 2 (human)
hKCNQ1/iso:2
Yes
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000817 hKCNQ1/var:T587M
Example: UniProtKB:P51787-1, Thr-587, CHEBI:16044		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10024302; PMID:10704188
PR:000000818 hKCNQ1/var:S373P
Example: UniProtKB:P51787-1, Ser-373, CHEBI:50342		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220144; PMID:10704188
PR:000000819 hKCNQ1/var:R243C
Example: UniProtKB:P51787-1, Arg-243, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10409658; PMID:10704188
enablesaltered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10409658
PR:000000820 hKCNQ1/var:D317N
Example: UniProtKB:P51787-1, Asp-317, CHEBI:50347		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9302275; PMID:9482580
PR:000000821 hKCNQ1/var:V310I
Example: UniProtKB:P51787-1, Val-310, CHEBI:30009		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000822 hKCNQ1/var:S566F
Example: UniProtKB:P51787-1, Ser-566, CHEBI:29997		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000823 hKCNQ1/var:Y315C
Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9693036; PMID:9927399
PR:000000824 hKCNQ1/var:S225L
Example: UniProtKB:P51787-1, Ser-225, CHEBI:30006		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9927399
PR:000000825 hKCNQ1/var:A178P
Example: UniProtKB:P51787-1, Ala-178, CHEBI:50342		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9323054
enablesNOT|contributes_to GO:0005251 delayed rectifier potassium channel activity PMID:10704188; PMID:9323054
located_inSO:0001559 polypeptide_loss_of_function_variant PMID:9323054
PR:000000826 hKCNQ1/var:A178T
Example: UniProtKB:P51787-1, Ala-178, CHEBI:30013		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9024139
PR:000000827 hKCNQ1/var:G189R
Example: UniProtKB:P51787-1, Gly-189, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220144; PMID:10704188
PR:000000828 hKCNQ1/var:P448R
Example: UniProtKB:P51787-1, Pro-448, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000829 hKCNQ1/var:T309R
Example: UniProtKB:P51787-1, Thr-309, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000830 hKCNQ1/var:R591H
Example: UniProtKB:P51787-1, Arg-591, CHEBI:29979		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10024302; PMID:10704188
PR:000000831 hKCNQ1/var:R366W
Example: UniProtKB:P51787-1, Arg-366, CHEBI:29954		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9693036
PR:000000832 hKCNQ1/var:I313M
Example: UniProtKB:P51787-1, Ile-313, CHEBI:16044		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9024139
PR:000000833 hKCNQ1/var:Y111C
Example: UniProtKB:P51787-1, Tyr-111, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000834 hKCNQ1/var:R533W
Example: UniProtKB:P51787-1, Arg-533, CHEBI:29954		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:10728423
enablesaltered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10704188; PMID:10728423
PR:000000835 hKCNQ1/var:G168R
Example: UniProtKB:P51787-1, Gly-168, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9693036
PR:000000836 hKCNQ1/var:E261D
Example: UniProtKB:P51787-1, Glu-261, CHEBI:29958		 associated_with_disease_progressionDO:2842 Jervell-Lange Nielsen syndrome PMID:10704188
PR:000000837 hKCNQ1/var:A371T
Example: UniProtKB:P51787-1, Ala-371, CHEBI:30013		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000838 hKCNQ1/var:29
Example: UniProtKB:P49747-1, 21-70, 74-757		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10511610
PR:000000839 hKCNQ1/var:A341V
Example: UniProtKB:P51787-1, Ala-341, CHEBI:30015		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:8818942; PMID:8872472; PMID:9570196
PR:000000840 hKCNQ1/var:L250H
Example: UniProtKB:P51787-1, Leu-250, CHEBI:29979		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000841 hKCNQ1/var:S349W
Example: UniProtKB:P51787-1, Ser-349, CHEBI:29954		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000842 hKCNQ1/var:T391I
Example: UniProtKB:P51787-1, Thr-391, CHEBI:30009		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000843 hKCNQ1/var:K318N
Example: UniProtKB:P51787-1, Lys-318, CHEBI:50347		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9693036
PR:000000844 hKCNQ1/var:A344V
Example: UniProtKB:P51787-1, Ala-344, CHEBI:30015		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000845 hKCNQ1/var:A525T
Example: UniProtKB:P51787-1, Ala-525, CHEBI:30013		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10482963; PMID:10704188
PR:000000846 hKCNQ1/var:A341E
Example: UniProtKB:P51787-1, Ala-341, CHEBI:29972		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
MP:0003233 prolonged QT interval PMID:15498462
PR:000000847 hKCNQ1/var:R583C
Example: UniProtKB:P51787-1, Arg-583, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000848 hKCNQ1/var:D242N
Example: UniProtKB:P51787-1, Asp-242, CHEBI:50347		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000849 hKCNQ1/var:L342F
Example: UniProtKB:P51787-1, Leu-342, CHEBI:29997		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000850 hKCNQ1/var:G306R
Example: UniProtKB:P51787-1, Gly-306, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000851 hKCNQ1/var:S140G
Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947		 associated_with_disease_progressionDO:0050650 familial atrial fibrillation PMID:12522251
enablesincreased GO:0005267 potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:12522251
located_inSO:0001557 polypeptide_gain_of_function_variant PMID:12522251
PR:000000852 hKCNQ1/var:G269S
Example: UniProtKB:P51787-1, Gly-269, CHEBI:29999		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000853 hKCNQ1/var:R555C
Example: UniProtKB:P51787-1, Arg-555, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000854 hKCNQ1/var:R539W
Example: UniProtKB:P51787-1, Arg-539, CHEBI:29954		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10728423
enablesaltered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10728423
located_inaltered GO:0008076 voltage-gated potassium channel complex relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10728423
PR:000000855 hKCNQ1/var:Y315S
Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29999		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220144; PMID:10704188
PR:000000856 hKCNQ1/var:R174H
Example: UniProtKB:P51787-1, Arg-174, CHEBI:29979		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10367071
PR:000000857 hKCNQ1/var:A194P
Example: UniProtKB:P51787-1, Ala-194, CHEBI:50342		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000858 hKCNQ1/var:Y184S
Example: UniProtKB:P51787-1, Tyr-184, CHEBI:29999		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220144
PR:000000859 hKCNQ1/var:G345E
Example: UniProtKB:P51787-1, Gly-345, CHEBI:29972		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000860 hKCNQ1/var:R190Q
Example: UniProtKB:P51787-1, Arg-190, CHEBI:30011		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:10728423
enablesNOT|contributes_to GO:0005251 delayed rectifier potassium channel activity PMID:10728423
located_inNOT 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
Example: UniProtKB:P51787-1, Thr-311, CHEBI:30009		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9482580
PR:000000862 hKCNQ1/var:G314S
Example: UniProtKB:P51787-1, Gly-314, CHEBI:29999		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:8872472; PMID:9693036
PR:000000863 hKCNQ1/var:W248R
Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10409658
enablesaltered|contributes_to GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10409658
located_inGO:0008076 voltage-gated potassium channel complex PMID:10728423
SO:0001561 polypeptide_partial_loss_of_function PMID:10409658
PR:000000864 hKCNQ1/var:R366P
Example: UniProtKB:P51787-1, Arg-366, CHEBI:50342		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188; PMID:9024139
PR:000000865 hKCNQ1/var:R366Q
Example: UniProtKB:P51787-1, Arg-366, CHEBI:30011		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000866 hKCNQ1/var:E160K
Example: UniProtKB:P51787-1, Glu-160, CHEBI:29967		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000867 hKCNQ1/var:V254M
Example: UniProtKB:P51787-1, Val-254, CHEBI:16044		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000868 hKCNQ1/var:G345R
Example: UniProtKB:P51787-1, Gly-345, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220144
PR:000000869 hKCNQ1/var:E261K
Example: UniProtKB:P51787-1, Glu-261, CHEBI:29967		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10409658
enablesNOT|contributes_to GO:0005251 delayed rectifier potassium channel activity PMID:8900283
located_inNOT GO:0008076 voltage-gated potassium channel complex PMID:8900283
PR:000000870 hKCNQ1/var:V307L
Example: UniProtKB:P51787-1, Val-307, CHEBI:30006		 associated_with_disease_progressionDO:0050793 short QT syndrome PMID:15159330
enablesincreased GO:0005267 potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:15159330
located_inSO:0001557 polypeptide_gain_of_function_variant PMID:15159330
PR:000000871 hKCNQ1/var:F339del
Example: UniProtKB:P49747-1, 21-338, 340-757		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:15159330
PR:000000872 hKCNQ1/var:R243H
Example: UniProtKB:P51787-1, Arg-243, CHEBI:29979		 associated_with_disease_progressionDO:2842 Jervell-Lange Nielsen syndrome PMID:10728423
enablesdecreased|contributes_to GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10728423
located_inGO:0008076 voltage-gated potassium channel complex PMID:10728423
PR:000000873 hKCNQ1/var:G179S
Example: UniProtKB:P51787-1, Gly-179, CHEBI:29999		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10728423
PR:000000874 hKCNQ1/var:A300T
Example: UniProtKB:P51787-1, Ala-300, CHEBI:30013		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9641694
enablescontributes_to GO:0005251 delayed rectifier potassium channel activity PMID:9641694
PR:000000875 hKCNQ1/var:R174C
Example: UniProtKB:P51787-1, Arg-174, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000876 hKCNQ1/var:W305S
Example: UniProtKB:P51787-1, Trp-305, CHEBI:29999		 associated_with_disease_progressionDO:2842 Jervell-Lange Nielsen syndrome PMID:9781056
PR:000000877 hKCNQ1/var:L266P
Example: UniProtKB:P51787-1, Leu-266, CHEBI:50342		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000878 hKCNQ1/var:R594Q
Example: UniProtKB:P51787-1, Arg-594, CHEBI:30011		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000879 hKCNQ1/var:L273F
Example: UniProtKB:P51787-1, Leu-273, CHEBI:29997		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9323054
enablescontributes_to GO:0005251 delayed rectifier potassium channel activity PMID:9323054
located_inSO:0001561 polypeptide_partial_loss_of_function PMID:9323054
PR:000000880 hKCNQ1/var:Y281C
Example: UniProtKB:P51787-1, Tyr-281, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9927399
PR:000000881 hKCNQ1/var:P320A
Example: UniProtKB:P51787-1, Pro-320, CHEBI:46217		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000882 hKCNQ1/var:F157C
Example: UniProtKB:P51787-1, Phe-157, CHEBI:29950		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220146
PR:000000883 hKCNQ1/var:L353P
Example: UniProtKB:P51787-1, Leu-353, CHEBI:50342		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9693036
PR:000000884 hKCNQ1/var:G325R
Example: UniProtKB:P51787-1, Gly-325, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9024139
PR:000000885 hKCNQ1/var:W392R
Example: UniProtKB:P51787-1, Trp-392, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10220144
PR:000000886 hKCNQ1/var:G269D
Example: UniProtKB:P51787-1, Gly-269, CHEBI:29958		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000887 hKCNQ1/var:G589D
Example: UniProtKB:P51787-1, Gly-589, CHEBI:29958		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000888 hKCNQ1/var:G216R
Example: UniProtKB:P51787-1, Gly-216, CHEBI:29952		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:9272155
PR:000000889 hKCNQ1/var:V417M
Example: UniProtKB:P51787-1, Val-417, CHEBI:16044		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10704188
PR:000000890 hKCNQ1/var:T312I
Example: UniProtKB:P51787-1, Thr-312, CHEBI:30009		 associated_with_disease_progressionDO:2843 long QT syndrome PMID:10409658; PMID:9323054
enablesNOT|contributes_to GO:0005251 delayed rectifier potassium channel activity PMID:10409658; PMID:9323054
located_inSO:0001559 polypeptide_loss_of_function_variant PMID:10409658; PMID:9323054
PR:P51787-1 hKCNQ1/iso:1 enablescontributes_to GO:0005251 delayed rectifier potassium channel activity PMID:9312006
PR:P51787-2 hKCNQ1/iso:2 enablescontributes_to GO:0043267 negative regulation of potassium ion transport PMID:9305853