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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 voltage-gated potassium channel subunit KQT
  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 Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
gene


PR:000000728
voltage-gated potassium channel subunit KCNQ1
KCNQ1
"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]

organism-gene


PR:P51787
potassium voltage-gated channel subfamily KQT member 1 (human)
hKCNQ1
"A voltage-gated potassium channel subunit KCNQ1 that is encoded in the genome of human." [PRO:CNA, UniProtKB:P51787]

organism-sequence


PR:000000817
voltage-gated potassium channel subunit KCNQ1 sequence variant T587M (human)
hKCNQ1/var:T587M
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Thr-587 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-587, CHEBI:16044." [PMID:10024302, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000818
voltage-gated potassium channel subunit KCNQ1 sequence variant S373P (human)
hKCNQ1/var:S373P
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ser-373 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-373, CHEBI:50342." [PMID:10220144, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000819
voltage-gated potassium channel subunit KCNQ1 sequence variant R243C (human)
hKCNQ1/var:R243C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-243 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-243, CHEBI:29950." [PMID:10409658, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000820
voltage-gated potassium channel subunit KCNQ1 sequence variant D317N (human)
hKCNQ1/var:D317N
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-317 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-317, CHEBI:50347." [PMID:9302275, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000821
voltage-gated potassium channel subunit KCNQ1 sequence variant V310I (human)
hKCNQ1/var:V310I
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Val-310 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-310, CHEBI:30009." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000822
voltage-gated potassium channel subunit KCNQ1 sequence variant S566F (human)
hKCNQ1/var:S566F
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Ser-566 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-566, CHEBI:29997." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000823
voltage-gated potassium channel subunit KCNQ1 sequence variant Y315C (human)
hKCNQ1/var:Y315C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-315 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29950." [PMID:10704188, PMID:9693036, PMID:9927399, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000824
voltage-gated potassium channel subunit KCNQ1 sequence variant S225L (human)
hKCNQ1/var:S225L
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Ser-225 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-225, CHEBI:30006." [PMID:10704188, PMID:9927399, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000825
voltage-gated potassium channel subunit KCNQ1 sequence variant A178P (human)
hKCNQ1/var:A178P
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-178, CHEBI:50342." [PMID:9024139, PMID:9323054, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000826
voltage-gated potassium channel subunit KCNQ1 sequence variant A178T (human)
hKCNQ1/var:A178T
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-178 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-178, CHEBI:30013." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000827
voltage-gated potassium channel subunit KCNQ1 sequence variant G189R (human)
hKCNQ1/var:G189R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-189 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-189, CHEBI:29952." [PMID:10220144, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000828
voltage-gated potassium channel subunit KCNQ1 sequence variant P448R (human)
hKCNQ1/var:P448R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Pro-448 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Pro-448, CHEBI:29952." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000829
voltage-gated potassium channel subunit KCNQ1 sequence variant T309R (human)
hKCNQ1/var:T309R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Thr-309 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-309, CHEBI:29952." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000830
voltage-gated potassium channel subunit KCNQ1 sequence variant R591H (human)
hKCNQ1/var:R591H
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-591 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-591, CHEBI:29979." [PMID:10024302, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000831
voltage-gated potassium channel subunit KCNQ1 sequence variant R366W (human)
hKCNQ1/var:R366W
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-366 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-366, CHEBI:29954." [PMID:10704188, PMID:9693036, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000832
voltage-gated potassium channel subunit KCNQ1 sequence variant I313M (human)
hKCNQ1/var:I313M
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Ile-313 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ile-313, CHEBI:16044." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000833
voltage-gated potassium channel subunit KCNQ1 sequence variant Y111C (human)
hKCNQ1/var:Y111C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-111 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-111, CHEBI:29950." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000834
voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human)
hKCNQ1/var:R533W
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-533 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-533, CHEBI:29954." [PMID:10728423, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000835
voltage-gated potassium channel subunit KCNQ1 sequence variant G168R (human)
hKCNQ1/var:G168R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-168 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-168, CHEBI:29952." [PMID:9693036, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000836
voltage-gated potassium channel subunit KCNQ1 sequence variant E261D (human)
hKCNQ1/var:E261D
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Glu-261 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-261, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000837
voltage-gated potassium channel subunit KCNQ1 sequence variant A371T (human)
hKCNQ1/var:A371T
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-371 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-371, CHEBI:30013." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000838
voltage-gated potassium channel subunit KCNQ1 sequence variant 29 (human)
hKCNQ1/var:29
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a three-residue deletion at the positions equivalent to 71-73 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-70, 74-757." [PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000839
voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human)
hKCNQ1/var:A341V
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Val residue at the position equivalent to Ala-341 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-341, CHEBI:30015." [PMID:10704188, PMID:8818942, PMID:8872472, PMID:9570196, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000840
voltage-gated potassium channel subunit KCNQ1 sequence variant L250H (human)
hKCNQ1/var:L250H
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-250, CHEBI:29979." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000841
voltage-gated potassium channel subunit KCNQ1 sequence variant S349W (human)
hKCNQ1/var:S349W
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Ser-349 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-349, CHEBI:29954." [PMID:10704188, PRO:CNA, PRO:DAN, UniProtKB:P51787]
Yes
organism-sequence


PR:000000842
voltage-gated potassium channel subunit KCNQ1 sequence variant T391I (human)
hKCNQ1/var:T391I
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-391 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-391, CHEBI:30009." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000843
voltage-gated potassium channel subunit KCNQ1 sequence variant K318N (human)
hKCNQ1/var:K318N
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Lys-318 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Lys-318, CHEBI:50347." [PMID:10704188, PMID:9693036, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000844
voltage-gated potassium channel subunit KCNQ1 sequence variant A344V (human)
hKCNQ1/var:A344V
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Val residue at the position equivalent to Ala-344 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-344, CHEBI:30015." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000845
voltage-gated potassium channel subunit KCNQ1 sequence variant A525T (human)
hKCNQ1/var:A525T
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-525 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-525, CHEBI:30013." [PMID:10482963, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000846
voltage-gated potassium channel subunit KCNQ1 sequence variant A341E (human)
hKCNQ1/var:A341E
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Glu residue at the position equivalent to Ala-341 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-341, CHEBI:29972." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000847
voltage-gated potassium channel subunit KCNQ1 sequence variant R583C (human)
hKCNQ1/var:R583C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-583 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-583, CHEBI:29950." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000848
voltage-gated potassium channel subunit KCNQ1 sequence variant D242N (human)
hKCNQ1/var:D242N
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asn residue at the position equivalent to Asp-242 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Asp-242, CHEBI:50347." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000849
voltage-gated potassium channel subunit KCNQ1 sequence variant L342F (human)
hKCNQ1/var:L342F
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Leu-342 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-342, CHEBI:29997." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000850
voltage-gated potassium channel subunit KCNQ1 sequence variant G306R (human)
hKCNQ1/var:G306R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-306 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-306, CHEBI:29952." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000851
voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
hKCNQ1/var:S140G
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947." [PMID:12522251, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000852
voltage-gated potassium channel subunit KCNQ1 sequence variant G269S (human)
hKCNQ1/var:G269S
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-269 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-269, CHEBI:29999." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000853
voltage-gated potassium channel subunit KCNQ1 sequence variant R555C (human)
hKCNQ1/var:R555C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-555 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-555, CHEBI:29950." [PMID:10704188, PMID:9386136, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000854
voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human)
hKCNQ1/var:R539W
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-539 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-539, CHEBI:29954." [PMID:10728423, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000855
voltage-gated potassium channel subunit KCNQ1 sequence variant Y315S (human)
hKCNQ1/var:Y315S
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Tyr-315 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-315, CHEBI:29999." [PMID:10220144, PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000856
voltage-gated potassium channel subunit KCNQ1 sequence variant R174H (human)
hKCNQ1/var:R174H
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-174 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-174, CHEBI:29979." [PMID:10367071, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000857
voltage-gated potassium channel subunit KCNQ1 sequence variant A194P (human)
hKCNQ1/var:A194P
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Ala-194 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-194, CHEBI:50342." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000858
voltage-gated potassium channel subunit KCNQ1 sequence variant Y184S (human)
hKCNQ1/var:Y184S
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Tyr-184 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-184, CHEBI:29999." [PMID:10220144, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000859
voltage-gated potassium channel subunit KCNQ1 sequence variant G345E (human)
hKCNQ1/var:G345E
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Glu residue at the position equivalent to Gly-345 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-345, CHEBI:29972." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000860
voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)
hKCNQ1/var:R190Q
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-190 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-190, CHEBI:30011." [PMID:10704188, PMID:10728423, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000861
voltage-gated potassium channel subunit KCNQ1 sequence variant T311I (human)
hKCNQ1/var:T311I
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-311 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-311, CHEBI:30009." [PMID:9482580, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000862
voltage-gated potassium channel subunit KCNQ1 sequence variant G314S (human)
hKCNQ1/var:G314S
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-314 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-314, CHEBI:29999." [PMID:8872472, PMID:9693036, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000863
voltage-gated potassium channel subunit KCNQ1 sequence variant W248R (human)
hKCNQ1/var:W248R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-248 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-248, CHEBI:29952." [PMID:10409658, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000864
voltage-gated potassium channel subunit KCNQ1 sequence variant R366P (human)
hKCNQ1/var:R366P
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Arg-366 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-366, CHEBI:50342." [PMID:10704188, PMID:9024139, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000865
voltage-gated potassium channel subunit KCNQ1 sequence variant R366Q (human)
hKCNQ1/var:R366Q
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-366 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-366, CHEBI:30011." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000866
voltage-gated potassium channel subunit KCNQ1 sequence variant E160K (human)
hKCNQ1/var:E160K
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Lys residue at the position equivalent to Glu-160 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-160, CHEBI:29967." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000867
voltage-gated potassium channel subunit KCNQ1 sequence variant V254M (human)
hKCNQ1/var:V254M
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Val-254 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-254, CHEBI:16044." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000868
voltage-gated potassium channel subunit KCNQ1 sequence variant G345R (human)
hKCNQ1/var:G345R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-345 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-345, CHEBI:29952." [PMID:10220144, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000869
voltage-gated potassium channel subunit KCNQ1 sequence variant E261K (human)
hKCNQ1/var:E261K
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Lys residue at the position equivalent to Glu-261 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Glu-261, CHEBI:29967." [PMID:10409658, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000870
voltage-gated potassium channel subunit KCNQ1 sequence variant V307L (human)
hKCNQ1/var:V307L
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Leu residue at the position equivalent to Val-307 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-307, CHEBI:30006." [PMID:15159330, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000871
voltage-gated potassium channel subunit KCNQ1 sequence variant F339del (human)
hKCNQ1/var:F339del
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a single-residue deletion at the position equivalent to Phe-339 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P49747-1, 21-338, 340-757." [PMID:9702906, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000872
voltage-gated potassium channel subunit KCNQ1 sequence variant R243H (human)
hKCNQ1/var:R243H
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a His residue at the position equivalent to Arg-243 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-243, CHEBI:29979." [PMID:10728423, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000873
voltage-gated potassium channel subunit KCNQ1 sequence variant G179S (human)
hKCNQ1/var:G179S
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Gly-179 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-179, CHEBI:29999." [PMID:10728423, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000874
voltage-gated potassium channel subunit KCNQ1 sequence variant A300T (human)
hKCNQ1/var:A300T
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Thr residue at the position equivalent to Ala-300 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-300, CHEBI:30013." [PMID:9641694, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000875
voltage-gated potassium channel subunit KCNQ1 sequence variant R174C (human)
hKCNQ1/var:R174C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Arg-174 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-174, CHEBI:29950." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000876
voltage-gated potassium channel subunit KCNQ1 sequence variant W305S (human)
hKCNQ1/var:W305S
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Trp-305 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-305, CHEBI:29999." [PMID:9781056, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000877
voltage-gated potassium channel subunit KCNQ1 sequence variant L266P (human)
hKCNQ1/var:L266P
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Leu-266 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-266, CHEBI:50342." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000878
voltage-gated potassium channel subunit KCNQ1 sequence variant R594Q (human)
hKCNQ1/var:R594Q
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-594 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-594, CHEBI:30011." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000879
voltage-gated potassium channel subunit KCNQ1 sequence variant L273F (human)
hKCNQ1/var:L273F
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Phe residue at the position equivalent to Leu-273 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-273, CHEBI:29997." [PMID:9323054, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000880
voltage-gated potassium channel subunit KCNQ1 sequence variant Y281C (human)
hKCNQ1/var:Y281C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Tyr-281 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Tyr-281, CHEBI:29950." [PMID:9927399, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000881
voltage-gated potassium channel subunit KCNQ1 sequence variant P320A (human)
hKCNQ1/var:P320A
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ala residue at the position equivalent to Pro-320 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Pro-320, CHEBI:46217." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000882
voltage-gated potassium channel subunit KCNQ1 sequence variant F157C (human)
hKCNQ1/var:F157C
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Cys residue at the position equivalent to Phe-157 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Phe-157, CHEBI:29950." [PMID:10220146, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000883
voltage-gated potassium channel subunit KCNQ1 sequence variant L353P (human)
hKCNQ1/var:L353P
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Leu-353 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-353, CHEBI:50342." [PMID:9693036, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000884
voltage-gated potassium channel subunit KCNQ1 sequence variant G325R (human)
hKCNQ1/var:G325R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-325 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-325, CHEBI:29952." [PMID:9024139, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000885
voltage-gated potassium channel subunit KCNQ1 sequence variant W392R (human)
hKCNQ1/var:W392R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Trp-392 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-392, CHEBI:29952." [PMID:10220144, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000886
voltage-gated potassium channel subunit KCNQ1 sequence variant G269D (human)
hKCNQ1/var:G269D
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Gly-269 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-269, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000887
voltage-gated potassium channel subunit KCNQ1 sequence variant G589D (human)
hKCNQ1/var:G589D
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Asp residue at the position equivalent to Gly-589 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-589, CHEBI:29958." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000888
voltage-gated potassium channel subunit KCNQ1 sequence variant G216R (human)
hKCNQ1/var:G216R
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Arg residue at the position equivalent to Gly-216 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Gly-216, CHEBI:29952." [PMID:9272155, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000889
voltage-gated potassium channel subunit KCNQ1 sequence variant V417M (human)
hKCNQ1/var:V417M
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Met residue at the position equivalent to Val-417 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Val-417, CHEBI:16044." [PMID:10704188, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000890
voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
hKCNQ1/var:T312I
"A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-312 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-312, CHEBI:30009." [PMID:10409658, PMID:9323054, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:P51787-1
potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human)
hKCNQ1/iso:1
"A voltage-gated potassium channel subunit KCNQ1 isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
organism-sequence


PR:P51787-2
potassium voltage-gated channel subfamily KQT member 1 isoform 2 (human)
hKCNQ1/iso:2
"A voltage-gated potassium channel subunit KCNQ1 isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P51787]
Yes
organism-gene


PR:P97414
potassium voltage-gated channel subfamily KQT member 1 (mouse)
mKCNQ1
"A voltage-gated potassium channel subunit KCNQ1 that is encoded in the genome of mouse." [OMA:P97414, PRO:DNx]

organism-sequence


PR:P97414-1
potassium voltage-gated channel subfamily KQT member 1 isoform I (mouse)
mKCNQ1/iso:I
"A potassium voltage-gated channel subfamily KQT member 1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P97414-1." [PRO:DNx, UniProtKB:P97414]

organism-sequence


PR:P97414-2
potassium voltage-gated channel subfamily KQT member 1 isoform II (mouse)
mKCNQ1/iso:II
"A potassium voltage-gated channel subfamily KQT member 1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P97414-2." [PRO:DNx, UniProtKB:P97414]

organism-gene


PR:Q9Z0N7
potassium voltage-gated channel subfamily KQT member 1 (rat)
rKCNQ1
"A voltage-gated potassium channel subunit KCNQ1 that is encoded in the genome of rat." [OMA:Q9Z0N7, PRO:DNx]

sequence


PR:000000815
voltage-gated potassium channel subunit KCNQ1 isoform 1
KCNQ1/iso:1
"A voltage-gated potassium channel subunit KCNQ1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51787-1 or a 1:1 ortholog thereof." [PRO:CNA, PRO:DAN]

organism-sequence


PR:P51787-1
potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human)
hKCNQ1/iso:1
"A voltage-gated potassium channel subunit KCNQ1 isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
modification


PR:000002622
voltage-gated potassium channel subunit KCNQ1 isoform 1 unmodified form
KCNQ1/iso:1/UnMod
"A voltage-gated potassium channel subunit KCNQ1 isoform 1 that has not been subjected to any co- or post-translational residue modification or peptide bond cleavage." [PRO:DNx]

sequence


PR:000000816
voltage-gated potassium channel subunit KCNQ1 isoform 2
KCNQ1/iso:2
"A voltage-gated potassium channel subunit KCNQ1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51787-2 or a 1:1 ortholog thereof." [PMID:9305853, PRO:CNA, PRO:DAN]

organism-sequence


PR:P51787-2
potassium voltage-gated channel subfamily KQT member 1 isoform 2 (human)
hKCNQ1/iso:2
"A voltage-gated potassium channel subunit KCNQ1 isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P51787]
Yes
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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:0050650 familial atrial fibrillationPR:000000851 hKCNQ1/var:S140G PMID:12522251
DO:0050793 short QT syndromePR:000000870 hKCNQ1/var:V307L PMID:15159330
DO:2842 Jervell-Lange Nielsen syndromePR:000000836 hKCNQ1/var:E261D PMID:10704188
PR:000000872 hKCNQ1/var:R243H PMID:10728423
PR:000000876 hKCNQ1/var:W305S PMID:9781056
DO:2843 long QT syndromePR:000000817 hKCNQ1/var:T587M PMID:10024302; PMID:10704188
PR:000000818 hKCNQ1/var:S373P PMID:10220144; PMID:10704188
PR:000000819 hKCNQ1/var:R243C PMID:10409658; PMID:10704188
PR:000000820 hKCNQ1/var:D317N PMID:10704188; PMID:9302275; PMID:9482580
PR:000000821 hKCNQ1/var:V310I PMID:10704188
PR:000000822 hKCNQ1/var:S566F PMID:10704188
PR:000000823 hKCNQ1/var:Y315C PMID:10704188; PMID:9693036; PMID:9927399
PR:000000824 hKCNQ1/var:S225L PMID:10704188; PMID:9927399
PR:000000825 hKCNQ1/var:A178P PMID:10704188; PMID:9323054
PR:000000826 hKCNQ1/var:A178T PMID:10704188; PMID:9024139
PR:000000827 hKCNQ1/var:G189R PMID:10220144; PMID:10704188
PR:000000828 hKCNQ1/var:P448R PMID:10704188
PR:000000829 hKCNQ1/var:T309R PMID:10704188
PR:000000830 hKCNQ1/var:R591H PMID:10024302; PMID:10704188
PR:000000831 hKCNQ1/var:R366W PMID:10704188; PMID:9693036
PR:000000832 hKCNQ1/var:I313M PMID:10704188; PMID:9024139
PR:000000833 hKCNQ1/var:Y111C PMID:10704188
PR:000000834 hKCNQ1/var:R533W PMID:10704188; PMID:10728423
PR:000000835 hKCNQ1/var:G168R PMID:9693036
PR:000000837 hKCNQ1/var:A371T PMID:10704188
PR:000000838 hKCNQ1/var:29 PMID:10511610
PR:000000839 hKCNQ1/var:A341V PMID:10704188; PMID:8818942; PMID:8872472; PMID:9570196
PR:000000840 hKCNQ1/var:L250H PMID:10704188
PR:000000841 hKCNQ1/var:S349W PMID:10704188
PR:000000842 hKCNQ1/var:T391I PMID:10704188
PR:000000843 hKCNQ1/var:K318N PMID:10704188; PMID:9693036
PR:000000844 hKCNQ1/var:A344V PMID:10704188
PR:000000845 hKCNQ1/var:A525T PMID:10482963; PMID:10704188
PR:000000846 hKCNQ1/var:A341E PMID:10704188
PR:000000847 hKCNQ1/var:R583C PMID:10704188
PR:000000848 hKCNQ1/var:D242N PMID:10704188
PR:000000849 hKCNQ1/var:L342F PMID:10704188
PR:000000850 hKCNQ1/var:G306R PMID:10704188
PR:000000852 hKCNQ1/var:G269S PMID:10704188
PR:000000853 hKCNQ1/var:R555C PMID:10704188
PR:000000854 hKCNQ1/var:R539W PMID:10728423
PR:000000855 hKCNQ1/var:Y315S PMID:10220144; PMID:10704188
PR:000000856 hKCNQ1/var:R174H PMID:10367071
PR:000000857 hKCNQ1/var:A194P PMID:10704188
PR:000000858 hKCNQ1/var:Y184S PMID:10220144
PR:000000859 hKCNQ1/var:G345E PMID:10704188
PR:000000860 hKCNQ1/var:R190Q PMID:10704188; PMID:10728423
PR:000000861 hKCNQ1/var:T311I PMID:10704188; PMID:9482580
PR:000000862 hKCNQ1/var:G314S PMID:8872472; PMID:9693036
PR:000000863 hKCNQ1/var:W248R PMID:10409658
PR:000000864 hKCNQ1/var:R366P PMID:10704188; PMID:9024139
PR:000000865 hKCNQ1/var:R366Q PMID:10704188
PR:000000866 hKCNQ1/var:E160K PMID:10704188
PR:000000867 hKCNQ1/var:V254M PMID:10704188
PR:000000868 hKCNQ1/var:G345R PMID:10220144
PR:000000869 hKCNQ1/var:E261K PMID:10409658
PR:000000871 hKCNQ1/var:F339del PMID:15159330
PR:000000873 hKCNQ1/var:G179S PMID:10728423
PR:000000874 hKCNQ1/var:A300T PMID:9641694
PR:000000875 hKCNQ1/var:R174C PMID:10704188
PR:000000877 hKCNQ1/var:L266P PMID:10704188
PR:000000878 hKCNQ1/var:R594Q PMID:10704188
PR:000000879 hKCNQ1/var:L273F PMID:9323054
PR:000000880 hKCNQ1/var:Y281C PMID:9927399
PR:000000881 hKCNQ1/var:P320A PMID:10704188
PR:000000882 hKCNQ1/var:F157C PMID:10220146
PR:000000883 hKCNQ1/var:L353P PMID:9693036
PR:000000884 hKCNQ1/var:G325R PMID:9024139
PR:000000885 hKCNQ1/var:W392R PMID:10220144
PR:000000886 hKCNQ1/var:G269D PMID:10704188
PR:000000887 hKCNQ1/var:G589D PMID:10704188
PR:000000888 hKCNQ1/var:G216R PMID:9272155
PR:000000889 hKCNQ1/var:V417M PMID:10704188
PR:000000890 hKCNQ1/var:T312I PMID:10409658; PMID:9323054
MP:0003233 prolonged QT intervalPR:000000846 hKCNQ1/var:A341E PMID:15498462

Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0005251 delayed rectifier potassium channel activityPR:000000819 hKCNQ1/var:R243C PMID:10409658
PR:000000834 hKCNQ1/var:R533W PMID:10704188; PMID:10728423
PR:000000854 hKCNQ1/var:R539W PMID:10728423
altered|contributes_to GO:0005251 delayed rectifier potassium channel activityPR:000000863 hKCNQ1/var:W248R PMID:10409658
contributes_to GO:0005251 delayed rectifier potassium channel activityPR:000000874 hKCNQ1/var:A300T PMID:9641694
PR:000000879 hKCNQ1/var:L273F PMID:9323054
PR:P51787-1 hKCNQ1/iso:1 PMID:9312006
decreased|contributes_to GO:0005251 delayed rectifier potassium channel activityPR:000000872 hKCNQ1/var:R243H PMID:10728423
NOT|contributes_to GO:0005251 delayed rectifier potassium channel activityPR:000000825 hKCNQ1/var:A178P PMID:10704188; PMID:9323054
PR:000000860 hKCNQ1/var:R190Q PMID:10728423
PR:000000869 hKCNQ1/var:E261K PMID:8900283
PR:000000890 hKCNQ1/var:T312I PMID:10409658; PMID:9323054
GO:0005267 potassium channel activityPR:000000851 hKCNQ1/var:S140G PMID:12522251
PR:000000870 hKCNQ1/var:V307L PMID:15159330
contributes_to GO:0043267 negative regulation of potassium ion transportPR:P51787-2 hKCNQ1/iso:2 PMID:9305853

Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0008076 voltage-gated potassium channel complexPR:000000863 hKCNQ1/var:W248R PMID:10728423
PR:000000872 hKCNQ1/var:R243H PMID:10728423
altered GO:0008076 voltage-gated potassium channel complexPR:000000854 hKCNQ1/var:R539W PMID:10728423
NOT GO:0008076 voltage-gated potassium channel complexPR:000000860 hKCNQ1/var:R190Q PMID:10728423
PR:000000869 hKCNQ1/var:E261K PMID:8900283
SO:0001557 polypeptide_gain_of_function_variantPR:000000851 hKCNQ1/var:S140G PMID:12522251
PR:000000870 hKCNQ1/var:V307L PMID:15159330
SO:0001559 polypeptide_loss_of_function_variantPR:000000825 hKCNQ1/var:A178P PMID:9323054
PR:000000860 hKCNQ1/var:R190Q PMID:10704188; PMID:9482580
PR:000000890 hKCNQ1/var:T312I PMID:10409658; PMID:9323054
SO:0001561 polypeptide_partial_loss_of_functionPR:000000863 hKCNQ1/var:W248R PMID:10409658
PR:000000879 hKCNQ1/var:L273F PMID:9323054