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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1
PR:000000728 - http://purl.obolibrary.org/obo/PR_000000728
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000000728   
  PRO namevoltage-gated potassium channel subunit KCNQ1 
  Synonyms
PRO-Short-label: EXACT:KCNQ1
Gene-based: RELATED:KCNA8 | KCNA9 | KVLQT1
Other: EXACT:IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1 | KQT-like 1 | voltage-gated potassium channel subunit Kv7.1
  Definition"A voltage-gated potassium channel subunit KQT that is a translation product of the human KCNQ1 gene or a 1:1 ortholog thereof." [PRO:CNA] 
  PRO Categorygene 
  ParentPR:000000684
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene1                                                  Organism-Gene 3                                        
         Sequence2                                                  Organism-Sequence 78                                        
         Modification1                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
PIRSF:PIRSF500964;IUPHARobj:560
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Protein Forms  Switch to Extended View   

Category  

PRO Form Name

Ann. Has Annotation?

Comp. In Complex?
gene



PR:000000728 voltage-gated potassium channel subunit KCNQ1, KCNQ1


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

organism-gene



PR:P97414 potassium voltage-gated channel subfamily KQT member 1 (mouse), mKCNQ1


organism-sequence



PR:P97414-1 potassium voltage-gated channel subfamily KQT member 1 isoform I (mouse), mKCNQ1/iso:I


organism-sequence



PR:P97414-2 potassium voltage-gated channel subfamily KQT member 1 isoform II (mouse), mKCNQ1/iso:II


organism-gene



PR:Q9Z0N7 potassium voltage-gated channel subfamily KQT member 1 (rat), rKCNQ1


sequence



PR:000000815 voltage-gated potassium channel subunit KCNQ1 isoform 1, KCNQ1/iso:1


organism-sequence



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

Yes

modification



PR:000002622 voltage-gated potassium channel subunit KCNQ1 isoform 1 unmodified form, KCNQ1/iso:1/UnMod


sequence



PR:000000816 voltage-gated potassium channel subunit KCNQ1 isoform 2, KCNQ1/iso:2


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
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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
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_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
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_progressionDO: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_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
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_progressionDO: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_progressionDO:2843 long QT syndrome PMID:9641694
enablescontributes_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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_progressionDO: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_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
potassium voltage-gated channel subfamily KQT member 1 isoform TKvLQT1 (human)
enablescontributes_to GO:0043267 negative regulation of potassium ion transport PMID:9305853