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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 name
voltage-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 Category
gene
Parent
PR:000000684
voltage-gated potassium channel subunit KQT
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Gene
1
Organism-Gene
3
Sequence
2
Organism-Sequence
78
Modification
1
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)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10024302
;
PMID:10704188
PR:000000818
hKCNQ1/var:S373P
UniProtKB:P51787, Ser-373, CHEBI:50342 | UniProtKB:P51787-1, Ser-373, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 10 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220144
;
PMID:10704188
PR:000000819
hKCNQ1/var:R243C
UniProtKB:P51787, Arg-243, CHEBI:29950 | UniProtKB:P51787-1, Arg-243, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 11 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10409658
;
PMID:10704188
enables
altered
GO:0005251
delayed rectifier potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10409658
PR:000000820
hKCNQ1/var:D317N
UniProtKB:P51787, Asp-317, CHEBI:50347 | UniProtKB:P51787-1, Asp-317, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 12 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9302275
;
PMID:9482580
PR:000000821
hKCNQ1/var:V310I
UniProtKB:P51787, Val-310, CHEBI:30009 | UniProtKB:P51787-1, Val-310, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 13 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000822
hKCNQ1/var:S566F
UniProtKB:P51787, Ser-566, CHEBI:29997 | UniProtKB:P51787-1, Ser-566, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ1 sequence variant 14 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000823
hKCNQ1/var:Y315C
UniProtKB:P51787, Tyr-315, CHEBI:29950 | UniProtKB:P51787-1, Tyr-315, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 15 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9693036
;
PMID:9927399
PR:000000824
hKCNQ1/var:S225L
UniProtKB:P51787, Ser-225, CHEBI:30006 | UniProtKB:P51787-1, Ser-225, CHEBI:30006 | voltage-gated potassium channel subunit KCNQ1 sequence variant 16 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9927399
PR:000000825
hKCNQ1/var:A178P
UniProtKB:P51787, Ala-178, CHEBI:50342 | UniProtKB:P51787-1, Ala-178, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 17 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9323054
enables
NOT|contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:10704188
;
PMID:9323054
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:9323054
PR:000000826
hKCNQ1/var:A178T
UniProtKB:P51787, Ala-178, CHEBI:30013 | UniProtKB:P51787-1, Ala-178, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 18 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9024139
PR:000000827
hKCNQ1/var:G189R
UniProtKB:P51787, Gly-189, CHEBI:29952 | UniProtKB:P51787-1, Gly-189, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 19 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220144
;
PMID:10704188
PR:000000828
hKCNQ1/var:P448R
UniProtKB:P51787, Pro-448, CHEBI:29952 | UniProtKB:P51787-1, Pro-448, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 2 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000829
hKCNQ1/var:T309R
UniProtKB:P51787, Thr-309, CHEBI:29952 | UniProtKB:P51787-1, Thr-309, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 20 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000830
hKCNQ1/var:R591H
UniProtKB:P51787, Arg-591, CHEBI:29979 | UniProtKB:P51787-1, Arg-591, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 21 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10024302
;
PMID:10704188
PR:000000831
hKCNQ1/var:R366W
UniProtKB:P51787, Arg-366, CHEBI:29954 | UniProtKB:P51787-1, Arg-366, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 22 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9693036
PR:000000832
hKCNQ1/var:I313M
UniProtKB:P51787, Ile-313, CHEBI:16044 | UniProtKB:P51787-1, Ile-313, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 23 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9024139
PR:000000833
hKCNQ1/var:Y111C
UniProtKB:P51787, Tyr-111, CHEBI:29950 | UniProtKB:P51787-1, Tyr-111, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 24 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000834
hKCNQ1/var:R533W
UniProtKB:P51787, Arg-533, CHEBI:29954 | UniProtKB:P51787-1, Arg-533, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 25 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:10728423
enables
altered
GO:0005251
delayed rectifier potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10704188
;
PMID:10728423
PR:000000835
hKCNQ1/var:G168R
UniProtKB:P51787, Gly-168, CHEBI:29952 | UniProtKB:P51787-1, Gly-168, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 26 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9693036
PR:000000836
hKCNQ1/var:E261D
UniProtKB:P51787, Glu-261, CHEBI:29958 | UniProtKB:P51787-1, Glu-261, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 27 (human)
"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]
associated_with_disease_progression
DO:2842
Jervell-Lange Nielsen syndrome
PMID:10704188
PR:000000837
hKCNQ1/var:A371T
UniProtKB:P51787, Ala-371, CHEBI:30013 | UniProtKB:P51787-1, Ala-371, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 28 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000838
hKCNQ1/var:29
UniProtKB:P49747, 21-70, 74-757 | UniProtKB:P49747-1, 21-70, 74-757
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10511610
PR:000000839
hKCNQ1/var:A341V
UniProtKB:P51787, Ala-341, CHEBI:30015 | UniProtKB:P51787-1, Ala-341, CHEBI:30015 | voltage-gated potassium channel subunit KCNQ1 sequence variant 3 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:8818942
;
PMID:8872472
;
PMID:9570196
PR:000000840
hKCNQ1/var:L250H
UniProtKB:P51787, Leu-250, CHEBI:29979 | UniProtKB:P51787-1, Leu-250, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 30 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000841
hKCNQ1/var:S349W
UniProtKB:P51787, Ser-349, CHEBI:29954 | UniProtKB:P51787-1, Ser-349, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 31 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000842
hKCNQ1/var:T391I
UniProtKB:P51787, Thr-391, CHEBI:30009 | UniProtKB:P51787-1, Thr-391, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 32 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000843
hKCNQ1/var:K318N
UniProtKB:P51787, Lys-318, CHEBI:50347 | UniProtKB:P51787-1, Lys-318, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 33 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9693036
PR:000000844
hKCNQ1/var:A344V
UniProtKB:P51787, Ala-344, CHEBI:30015 | UniProtKB:P51787-1, Ala-344, CHEBI:30015 | voltage-gated potassium channel subunit KCNQ1 sequence variant 34 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000845
hKCNQ1/var:A525T
UniProtKB:P51787, Ala-525, CHEBI:30013 | UniProtKB:P51787-1, Ala-525, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 35 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10482963
;
PMID:10704188
PR:000000846
hKCNQ1/var:A341E
UniProtKB:P51787, Ala-341, CHEBI:29972 | UniProtKB:P51787-1, Ala-341, CHEBI:29972 | voltage-gated potassium channel subunit KCNQ1 sequence variant 36 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
MP:0003233
prolonged QT interval
PMID:15498462
PR:000000847
hKCNQ1/var:R583C
UniProtKB:P51787, Arg-583, CHEBI:29950 | UniProtKB:P51787-1, Arg-583, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 37 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000848
hKCNQ1/var:D242N
UniProtKB:P51787, Asp-242, CHEBI:50347 | UniProtKB:P51787-1, Asp-242, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ1 sequence variant 38 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000849
hKCNQ1/var:L342F
UniProtKB:P51787, Leu-342, CHEBI:29997 | UniProtKB:P51787-1, Leu-342, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ1 sequence variant 39 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000850
hKCNQ1/var:G306R
UniProtKB:P51787, Gly-306, CHEBI:29952 | UniProtKB:P51787-1, Gly-306, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 4 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000851
hKCNQ1/var:S140G
UniProtKB:P51787, Ser-140, CHEBI:29947 | UniProtKB:P51787-1, Ser-140, CHEBI:29947 | voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)
"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]
associated_with_disease_progression
DO:0050650
familial atrial fibrillation
PMID:12522251
enables
increased
GO:0005267
potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:12522251
located_in
SO:0001557
polypeptide_gain_of_function_variant
PMID:12522251
PR:000000852
hKCNQ1/var:G269S
UniProtKB:P51787, Gly-269, CHEBI:29999 | UniProtKB:P51787-1, Gly-269, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 41 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000853
hKCNQ1/var:R555C
UniProtKB:P51787, Arg-555, CHEBI:29950 | UniProtKB:P51787-1, Arg-555, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 42 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000854
hKCNQ1/var:R539W
UniProtKB:P51787, Arg-539, CHEBI:29954 | UniProtKB:P51787-1, Arg-539, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10728423
enables
altered
GO:0005251
delayed rectifier potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10728423
located_in
altered
GO:0008076
voltage-gated potassium channel complex
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10728423
PR:000000855
hKCNQ1/var:Y315S
UniProtKB:P51787, Tyr-315, CHEBI:29999 | UniProtKB:P51787-1, Tyr-315, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 44 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220144
;
PMID:10704188
PR:000000856
hKCNQ1/var:R174H
UniProtKB:P51787, Arg-174, CHEBI:29979 | UniProtKB:P51787-1, Arg-174, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 45 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10367071
PR:000000857
hKCNQ1/var:A194P
UniProtKB:P51787, Ala-194, CHEBI:50342 | UniProtKB:P51787-1, Ala-194, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 46 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000858
hKCNQ1/var:Y184S
UniProtKB:P51787, Tyr-184, CHEBI:29999 | UniProtKB:P51787-1, Tyr-184, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 47 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220144
PR:000000859
hKCNQ1/var:G345E
UniProtKB:P51787, Gly-345, CHEBI:29972 | UniProtKB:P51787-1, Gly-345, CHEBI:29972 | voltage-gated potassium channel subunit KCNQ1 sequence variant 48 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000860
hKCNQ1/var:R190Q
UniProtKB:P51787, Arg-190, CHEBI:30011 | UniProtKB:P51787-1, Arg-190, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:10728423
enables
NOT|contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:10728423
located_in
NOT
GO:0008076
voltage-gated potassium channel complex
PMID:10728423
SO:0001559
polypeptide_loss_of_function_variant
PMID:10704188
;
PMID:9482580
PR:000000861
hKCNQ1/var:T311I
UniProtKB:P51787, Thr-311, CHEBI:30009 | UniProtKB:P51787-1, Thr-311, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 5 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9482580
PR:000000862
hKCNQ1/var:G314S
UniProtKB:P51787, Gly-314, CHEBI:29999 | UniProtKB:P51787-1, Gly-314, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 50 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:8872472
;
PMID:9693036
PR:000000863
hKCNQ1/var:W248R
UniProtKB:P51787, Trp-248, CHEBI:29952 | UniProtKB:P51787-1, Trp-248, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 51 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10409658
enables
altered|contributes_to
GO:0005251
delayed rectifier potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10409658
located_in
GO:0008076
voltage-gated potassium channel complex
PMID:10728423
SO:0001561
polypeptide_partial_loss_of_function
PMID:10409658
PR:000000864
hKCNQ1/var:R366P
UniProtKB:P51787, Arg-366, CHEBI:50342 | UniProtKB:P51787-1, Arg-366, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 52 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
;
PMID:9024139
PR:000000865
hKCNQ1/var:R366Q
UniProtKB:P51787, Arg-366, CHEBI:30011 | UniProtKB:P51787-1, Arg-366, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ1 sequence variant 53 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000866
hKCNQ1/var:E160K
UniProtKB:P51787, Glu-160, CHEBI:29967 | UniProtKB:P51787-1, Glu-160, CHEBI:29967 | voltage-gated potassium channel subunit KCNQ1 sequence variant 54 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000867
hKCNQ1/var:V254M
UniProtKB:P51787, Val-254, CHEBI:16044 | UniProtKB:P51787-1, Val-254, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 55 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000868
hKCNQ1/var:G345R
UniProtKB:P51787, Gly-345, CHEBI:29952 | UniProtKB:P51787-1, Gly-345, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 56 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220144
PR:000000869
hKCNQ1/var:E261K
UniProtKB:P51787, Glu-261, CHEBI:29967 | UniProtKB:P51787-1, Glu-261, CHEBI:29967 | voltage-gated potassium channel subunit KCNQ1 sequence variant 57 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10409658
enables
NOT|contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:8900283
located_in
NOT
GO:0008076
voltage-gated potassium channel complex
PMID:8900283
PR:000000870
hKCNQ1/var:V307L
UniProtKB:P51787, Val-307, CHEBI:30006 | UniProtKB:P51787-1, Val-307, CHEBI:30006 | voltage-gated potassium channel subunit KCNQ1 sequence variant 58 (human)
"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]
associated_with_disease_progression
DO:0050793
short QT syndrome
PMID:15159330
enables
increased
GO:0005267
potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:15159330
located_in
SO:0001557
polypeptide_gain_of_function_variant
PMID:15159330
PR:000000871
hKCNQ1/var:F339del
UniProtKB:P49747, 21-338, 340-757 | UniProtKB:P49747-1, 21-338, 340-757 | voltage-gated potassium channel subunit KCNQ1 sequence variant 59 (human) | deltaF339
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:15159330
PR:000000872
hKCNQ1/var:R243H
UniProtKB:P51787, Arg-243, CHEBI:29979 | UniProtKB:P51787-1, Arg-243, CHEBI:29979 | voltage-gated potassium channel subunit KCNQ1 sequence variant 6 (human)
"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]
associated_with_disease_progression
DO:2842
Jervell-Lange Nielsen syndrome
PMID:10728423
enables
decreased|contributes_to
GO:0005251
delayed rectifier potassium channel activity
relative to
PR:000002622
KCNQ1/iso:1/UnMod
PMID:10728423
located_in
GO:0008076
voltage-gated potassium channel complex
PMID:10728423
PR:000000873
hKCNQ1/var:G179S
UniProtKB:P51787, Gly-179, CHEBI:29999 | UniProtKB:P51787-1, Gly-179, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 60 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10728423
PR:000000874
hKCNQ1/var:A300T
UniProtKB:P51787, Ala-300, CHEBI:30013 | UniProtKB:P51787-1, Ala-300, CHEBI:30013 | voltage-gated potassium channel subunit KCNQ1 sequence variant 61 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9641694
enables
contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:9641694
PR:000000875
hKCNQ1/var:R174C
UniProtKB:P51787, Arg-174, CHEBI:29950 | UniProtKB:P51787-1, Arg-174, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 62 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000876
hKCNQ1/var:W305S
UniProtKB:P51787, Trp-305, CHEBI:29999 | UniProtKB:P51787-1, Trp-305, CHEBI:29999 | voltage-gated potassium channel subunit KCNQ1 sequence variant 63 (human)
"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]
associated_with_disease_progression
DO:2842
Jervell-Lange Nielsen syndrome
PMID:9781056
PR:000000877
hKCNQ1/var:L266P
UniProtKB:P51787, Leu-266, CHEBI:50342 | UniProtKB:P51787-1, Leu-266, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 64 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000878
hKCNQ1/var:R594Q
UniProtKB:P51787, Arg-594, CHEBI:30011 | UniProtKB:P51787-1, Arg-594, CHEBI:30011 | voltage-gated potassium channel subunit KCNQ1 sequence variant 65 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000879
hKCNQ1/var:L273F
UniProtKB:P51787, Leu-273, CHEBI:29997 | UniProtKB:P51787-1, Leu-273, CHEBI:29997 | voltage-gated potassium channel subunit KCNQ1 sequence variant 66 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9323054
enables
contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:9323054
located_in
SO:0001561
polypeptide_partial_loss_of_function
PMID:9323054
PR:000000880
hKCNQ1/var:Y281C
UniProtKB:P51787, Tyr-281, CHEBI:29950 | UniProtKB:P51787-1, Tyr-281, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 67 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9927399
PR:000000881
hKCNQ1/var:P320A
UniProtKB:P51787, Pro-320, CHEBI:46217 | UniProtKB:P51787-1, Pro-320, CHEBI:46217 | voltage-gated potassium channel subunit KCNQ1 sequence variant 68 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000882
hKCNQ1/var:F157C
UniProtKB:P51787, Phe-157, CHEBI:29950 | UniProtKB:P51787-1, Phe-157, CHEBI:29950 | voltage-gated potassium channel subunit KCNQ1 sequence variant 69 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220146
PR:000000883
hKCNQ1/var:L353P
UniProtKB:P51787, Leu-353, CHEBI:50342 | UniProtKB:P51787-1, Leu-353, CHEBI:50342 | voltage-gated potassium channel subunit KCNQ1 sequence variant 7 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9693036
PR:000000884
hKCNQ1/var:G325R
UniProtKB:P51787, Gly-325, CHEBI:29952 | UniProtKB:P51787-1, Gly-325, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 70 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9024139
PR:000000885
hKCNQ1/var:W392R
UniProtKB:P51787, Trp-392, CHEBI:29952 | UniProtKB:P51787-1, Trp-392, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 71 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10220144
PR:000000886
hKCNQ1/var:G269D
UniProtKB:P51787, Gly-269, CHEBI:29958 | UniProtKB:P51787-1, Gly-269, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 72 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000887
hKCNQ1/var:G589D
UniProtKB:P51787, Gly-589, CHEBI:29958 | UniProtKB:P51787-1, Gly-589, CHEBI:29958 | voltage-gated potassium channel subunit KCNQ1 sequence variant 73 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000888
hKCNQ1/var:G216R
UniProtKB:P51787, Gly-216, CHEBI:29952 | UniProtKB:P51787-1, Gly-216, CHEBI:29952 | voltage-gated potassium channel subunit KCNQ1 sequence variant 74 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:9272155
PR:000000889
hKCNQ1/var:V417M
UniProtKB:P51787, Val-417, CHEBI:16044 | UniProtKB:P51787-1, Val-417, CHEBI:16044 | voltage-gated potassium channel subunit KCNQ1 sequence variant 8 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10704188
PR:000000890
hKCNQ1/var:T312I
UniProtKB:P51787, Thr-312, CHEBI:30009 | UniProtKB:P51787-1, Thr-312, CHEBI:30009 | voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human)
"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]
associated_with_disease_progression
DO:2843
long QT syndrome
PMID:10409658
;
PMID:9323054
enables
NOT|contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:10409658
;
PMID:9323054
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:10409658
;
PMID:9323054
PR:P51787-1
hKCNQ1/iso:1
"A voltage-gated potassium channel subunit KCNQ1 isoform 1 that is encoded in the genome of human." [PRO:CNA]
enables
contributes_to
GO:0005251
delayed rectifier potassium channel activity
PMID:9312006
PR:P51787-2
hKCNQ1/iso:2
potassium voltage-gated channel subfamily KQT member 1 isoform TKvLQT1 (human)
"A voltage-gated potassium channel subunit KCNQ1 isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P51787]
enables
contributes_to
GO:0043267
negative regulation of potassium ion transport
PMID:9305853
