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Protein

Potassium voltage-gated channel subfamily KQT member 1

Gene

KCNQ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568).By similarity10 Publications
Isoform 2: Non-functional alone but modulatory when coexpressed with the full-length isoform 1.1 Publication

Miscellaneous

Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers).

GO - Molecular functioni

  • calmodulin binding Source: BHF-UCL
  • delayed rectifier potassium channel activity Source: UniProtKB
  • ion channel binding Source: UniProtKB
  • outward rectifier potassium channel activity Source: UniProtKB
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
  • protein kinase A catalytic subunit binding Source: BHF-UCL
  • protein kinase A regulatory subunit binding Source: BHF-UCL
  • protein phosphatase 1 binding Source: BHF-UCL
  • scaffold protein binding Source: BHF-UCL
  • voltage-gated potassium channel activity Source: UniProtKB
  • voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization Source: BHF-UCL
  • voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: BHF-UCL
  • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

  • atrial cardiac muscle cell action potential Source: BHF-UCL
  • cardiac conduction Source: Reactome
  • cardiac muscle contraction Source: BHF-UCL
  • cardiovascular system development Source: Ensembl
  • cellular response to cAMP Source: BHF-UCL
  • cellular response to drug Source: BHF-UCL
  • cellular response to epinephrine stimulus Source: BHF-UCL
  • gene silencing Source: Ensembl
  • inner ear development Source: UniProtKB
  • intestinal absorption Source: UniProtKB
  • membrane repolarization during action potential Source: BHF-UCL
  • membrane repolarization during atrial cardiac muscle cell action potential Source: BHF-UCL
  • membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane repolarization during ventricular cardiac muscle cell action potential Source: BHF-UCL
  • negative regulation of delayed rectifier potassium channel activity Source: UniProtKB
  • negative regulation of voltage-gated potassium channel activity Source: UniProtKB
  • positive regulation of cardiac muscle contraction Source: BHF-UCL
  • positive regulation of heart rate Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  • potassium ion export Source: BHF-UCL
  • potassium ion export across plasma membrane Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
  • regulation of gastric acid secretion Source: UniProtKB
  • regulation of gene expression by genetic imprinting Source: Ensembl
  • regulation of heart contraction Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • renal absorption Source: UniProtKB
  • sensory perception of sound Source: ProtInc
  • ventricular cardiac muscle cell action potential Source: BHF-UCL

Keywordsi

Molecular functionCalmodulin-binding, Ion channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.
R-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
SignaLinkiP51787.

Protein family/group databases

TCDBi1.A.1.15.6. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily KQT member 1Curated
Alternative name(s):
IKs producing slow voltage-gated potassium channel subunit alpha KvLQT11 Publication
KQT-like 1Curated
Voltage-gated potassium channel subunit Kv7.11 Publication
Gene namesi
Name:KCNQ1Imported
Synonyms:KCNA8Imported, KCNA9Imported, KVLQT11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:6294. KCNQ1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 121CytoplasmicSequence analysisAdd BLAST121
Transmembranei122 – 142Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini143 – 147ExtracellularSequence analysis5
Transmembranei148 – 168Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini169 – 196CytoplasmicSequence analysisAdd BLAST28
Transmembranei197 – 217Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini218 – 225ExtracellularSequence analysis8
Transmembranei226 – 248Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST23
Topological domaini249 – 261CytoplasmicSequence analysisAdd BLAST13
Transmembranei262 – 282Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini283 – 299ExtracellularSequence analysisAdd BLAST17
Intramembranei300 – 320Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini321 – 327ExtracellularSequence analysis7
Transmembranei328 – 348Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini349 – 676CytoplasmicSequence analysisAdd BLAST328

GO - Cellular componenti

  • basolateral plasma membrane Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle membrane Source: UniProtKB-SubCell
  • early endosome Source: BHF-UCL
  • endoplasmic reticulum Source: UniProtKB
  • ion channel complex Source: UniProtKB
  • late endosome Source: BHF-UCL
  • lysosome Source: BHF-UCL
  • membrane raft Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • voltage-gated potassium channel complex Source: BHF-UCL

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 1 (LQT1)41 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
See also OMIM:192500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0749272A → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473442Ensembl.1
Natural variantiVAR_0749287P → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473443Ensembl.1
Natural variantiVAR_07492946A → T in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473671Ensembl.1
Natural variantiVAR_07493064 – 70Missing in LQT1; unknown pathological significance. 1 Publication7
Natural variantiVAR_07493166S → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473446Ensembl.1
Natural variantiVAR_00991771 – 73Missing in LQT1. 1 Publication3
Natural variantiVAR_06828773P → T in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472676Ensembl.1
Natural variantiVAR_009918111Y → C in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472678Ensembl.1
Natural variantiVAR_068288115E → G in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472679Ensembl.1
Natural variantiVAR_074932117P → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074191Ensembl.1
Natural variantiVAR_068289122C → Y in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472681Ensembl.1
Natural variantiVAR_074933127F → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472682Ensembl.1
Natural variantiVAR_068290133V → I in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473449Ensembl.1
Natural variantiVAR_074934134L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472685Ensembl.1
Natural variantiVAR_068291136C → F in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472686Ensembl.1
Natural variantiVAR_074935137L → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473450Ensembl.1
Natural variantiVAR_074936144T → A in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473451Ensembl.1
Natural variantiVAR_074937146E → K in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472688Ensembl.1
Natural variantiVAR_074938153T → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143709408Ensembl.1
Natural variantiVAR_008124157F → C in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472690Ensembl.1
Natural variantiVAR_009919160E → K in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473453Ensembl.1
Natural variantiVAR_074939162V → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472692Ensembl.1
Natural variantiVAR_001515167 – 168FG → W in LQT1. 2
Natural variantiVAR_001516168G → R in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs179489Ensembl.1
Natural variantiVAR_074940172V → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472694Ensembl.1
Natural variantiVAR_074941173V → D in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472695Ensembl.1
Natural variantiVAR_001517174R → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472696Ensembl.1
Natural variantiVAR_008939174R → H in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472697Ensembl.1
Natural variantiVAR_074942174R → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472697Ensembl.1
Natural variantiVAR_001518178A → P in LQT1; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs120074177Ensembl.1
Natural variantiVAR_009920178A → T in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs120074177Ensembl.1
Natural variantiVAR_009921179G → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473394Ensembl.1
Natural variantiVAR_074943184Y → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473661Ensembl.1
Natural variantiVAR_008125184Y → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473397Ensembl.1
Natural variantiVAR_074944186G → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473398Ensembl.1
Natural variantiVAR_001519189G → R in LQT1; familial sudden death. 1 PublicationCorresponds to variant dbSNP:rs104894252Ensembl.1
Natural variantiVAR_074945190R → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074178Ensembl.1
Natural variantiVAR_001520190R → Q in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant dbSNP:rs120074178Ensembl.1
Natural variantiVAR_074946190R → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473662Ensembl.1
Natural variantiVAR_074687191L → P in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473401Ensembl.1
Natural variantiVAR_074947192R → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472698Ensembl.1
Natural variantiVAR_009922194A → P in LQT1. Corresponds to variant dbSNP:rs199472699Ensembl.1
Natural variantiVAR_074948195R → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs150172393Ensembl.1
Natural variantiVAR_074949198I → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472700Ensembl.1
Natural variantiVAR_074950199S → A in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472701Ensembl.1
Natural variantiVAR_074951202D → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472702Ensembl.1
Natural variantiVAR_068292204I → F in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472703Ensembl.1
Natural variantiVAR_074952204I → M in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473455Ensembl.1
Natural variantiVAR_074953209S → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472704Ensembl.1
Natural variantiVAR_074954215V → M in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs17215479Ensembl.1
Natural variantiVAR_001521216G → R in LQT1. 1 Publication1
Natural variantiVAR_074955224T → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472706Ensembl.1
Natural variantiVAR_009923225S → L in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199473456Ensembl.1
Natural variantiVAR_074956231R → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473457Ensembl.1
Natural variantiVAR_074957231R → H in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472709Ensembl.1
Natural variantiVAR_068293235I → N in LQT1; decreases delayed rectifier potassium current Iks; prevents the up-regulation of Iks through PKA activation. 3 PublicationsCorresponds to variant dbSNP:rs199472710Ensembl.1
Natural variantiVAR_074958239L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473458Ensembl.1
Natural variantiVAR_074959241V → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472711Ensembl.1
Natural variantiVAR_008940242D → N in LQT1; decreases outward potassium current; decreases plasma membrane localization. 4 PublicationsCorresponds to variant dbSNP:rs199472712Ensembl.1
Natural variantiVAR_010933243R → C in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 3 PublicationsCorresponds to variant dbSNP:rs199472713Ensembl.1
Natural variantiVAR_074688243R → P in LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs120074196Ensembl.1
Natural variantiVAR_008942248W → R in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 1 PublicationCorresponds to variant dbSNP:rs199473459Ensembl.1
Natural variantiVAR_008943250L → H in LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs199472715Ensembl.1
Natural variantiVAR_074960250L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472715Ensembl.1
Natural variantiVAR_068294254 – 256Missing in LQT1. 1 Publication3
Natural variantiVAR_074961254V → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074179Ensembl.1
Natural variantiVAR_001522254V → M in LQT1; associated with M-417 in a patient. 3 PublicationsCorresponds to variant dbSNP:rs120074179Ensembl.1
Natural variantiVAR_074962258H → N in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472717Ensembl.1
Natural variantiVAR_074963258H → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472718Ensembl.1
Natural variantiVAR_068295259R → C in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199472719Ensembl.1
Natural variantiVAR_074964259R → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472720Ensembl.1
Natural variantiVAR_068296259R → L in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472720Ensembl.1
Natural variantiVAR_001523261E → K in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits. 1 PublicationCorresponds to variant dbSNP:rs199472722Ensembl.1
Natural variantiVAR_074965262L → V in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472723Ensembl.1
Natural variantiVAR_009924266L → P in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473460Ensembl.1
Natural variantiVAR_074966268I → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472725Ensembl.1
Natural variantiVAR_001524269G → D in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs120074194Ensembl.1
Natural variantiVAR_009925269G → S in LQT1; decreases IKs amplitude; accelerates the IKs deactivation; effect on plasma membrane localization; reduces up-regulation of Iks through PKA activation. 3 PublicationsCorresponds to variant dbSNP:rs120074193Ensembl.1
Natural variantiVAR_074967272G → D in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472726Ensembl.1
Natural variantiVAR_001525273L → F in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers). 4 PublicationsCorresponds to variant dbSNP:rs120074180Ensembl.1
Natural variantiVAR_068297273L → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472727Ensembl.1
Natural variantiVAR_074968274I → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472728Ensembl.1
Natural variantiVAR_074690275F → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472729Ensembl.1
Natural variantiVAR_068298276Missing in LQT1. 1 Publication1
Natural variantiVAR_065777277S → L in LQT1; loss of function mutation acting in a dominant-negative manner. 4 PublicationsCorresponds to variant dbSNP:rs199472730Ensembl.1
Natural variantiVAR_074969277S → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473461Ensembl.1
Natural variantiVAR_074970277S → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472730Ensembl.1
Natural variantiVAR_068299278Y → H in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472731Ensembl.1
Natural variantiVAR_074971280V → E in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473462Ensembl.1
Natural variantiVAR_008945281Y → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472732Ensembl.1
Natural variantiVAR_074972282L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472733Ensembl.1
Natural variantiVAR_074973283A → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473463Ensembl.1
Natural variantiVAR_074974287A → E in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472735Ensembl.1
Natural variantiVAR_068300290E → K in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473464Ensembl.1
Natural variantiVAR_068301292G → D in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472736Ensembl.1
Natural variantiVAR_068302293R → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472737Ensembl.1
Natural variantiVAR_001526300A → T in LQT1. 1 PublicationCorresponds to variant dbSNP:rs120074187Ensembl.1
Natural variantiVAR_074975302A → E in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs193922365Ensembl.1
Natural variantiVAR_074976302A → T in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472739Ensembl.1
Natural variantiVAR_068303302A → V in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs193922365Ensembl.1
Natural variantiVAR_074977303L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472740Ensembl.1
Natural variantiVAR_068304304W → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473466Ensembl.1
Natural variantiVAR_074978305W → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472741Ensembl.1
Natural variantiVAR_001528306G → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074181Ensembl.1
Natural variantiVAR_074691306G → V in LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs199472742Ensembl.1
Natural variantiVAR_074979308V → D in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473467Ensembl.1
Natural variantiVAR_001529309T → R in LQT1. Corresponds to variant dbSNP:rs199472743Ensembl.1
Natural variantiVAR_009926310V → I in LQT1. Corresponds to variant dbSNP:rs199472745Ensembl.1
Natural variantiVAR_009927311T → I in LQT1 and JLNS1; impairs outward potassium current; affects plasma membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs199472746Ensembl.1
Natural variantiVAR_001530312T → I in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant dbSNP:rs120074182Ensembl.1
Natural variantiVAR_001531313I → M in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472747Ensembl.1
Natural variantiVAR_074980314G → C in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074184Ensembl.1
Natural variantiVAR_068305314G → D in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472748Ensembl.1
Natural variantiVAR_068306314G → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs120074184Ensembl.1
Natural variantiVAR_001532314G → S in LQT1. 7 PublicationsCorresponds to variant dbSNP:rs120074184Ensembl.1
Natural variantiVAR_008946315Y → C in LQT1. 5 PublicationsCorresponds to variant dbSNP:rs74462309Ensembl.1
Natural variantiVAR_001533315Y → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs74462309Ensembl.1
Natural variantiVAR_074981316G → E in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472749Ensembl.1
Natural variantiVAR_068307316G → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs104894255Ensembl.1
Natural variantiVAR_074982316G → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472749Ensembl.1
Natural variantiVAR_001534317D → N in LQT1; complete loss of outward potassium current when expressed alone and even in the presence of the wild type at variable ratios; decreases plasma membrane localization. 3 PublicationsCorresponds to variant dbSNP:rs199472751Ensembl.1
Natural variantiVAR_008947318K → N in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472752Ensembl.1
Natural variantiVAR_001535320P → A in LQT1; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs199472753Ensembl.1
Natural variantiVAR_065778320P → H in LQT1; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs199473470Ensembl.1
Natural variantiVAR_074983320P → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472753Ensembl.1
Natural variantiVAR_068308322T → A in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199472754Ensembl.1
Natural variantiVAR_074692322T → M in JLNS1 and LQT1; impairs outward potassium current; affects plasma membrane localization. 4 PublicationsCorresponds to variant dbSNP:rs199472755Ensembl.1
Natural variantiVAR_001536325G → R in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472756Ensembl.1
Natural variantiVAR_074984339F → Y in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472759Ensembl.1
Natural variantiVAR_001537339Missing in LQT1. 2 Publications1
Natural variantiVAR_001538341A → E in LQT1. 1 PublicationCorresponds to variant dbSNP:rs12720459Ensembl.1
Natural variantiVAR_074985341A → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs12720459Ensembl.1
Natural variantiVAR_001539341A → V in LQT1. 6 PublicationsCorresponds to variant dbSNP:rs12720459Ensembl.1
Natural variantiVAR_001540342L → F in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472760Ensembl.1
Natural variantiVAR_074986343P → L in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472761Ensembl.1
Natural variantiVAR_074987343P → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472761Ensembl.1
Natural variantiVAR_068309343P → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472762Ensembl.1
Natural variantiVAR_068310344A → E in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472763Ensembl.1
Natural variantiVAR_001541344A → V in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472763Ensembl.1
Natural variantiVAR_001542345G → E in LQT1. 1 PublicationCorresponds to variant dbSNP:rs120074183Ensembl.1
Natural variantiVAR_008126345G → R in LQT1; familial sudden death. 1 PublicationCorresponds to variant dbSNP:rs199473471Ensembl.1
Natural variantiVAR_074988349S → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472764Ensembl.1
Natural variantiVAR_009928349S → W in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472765Ensembl.1
Natural variantiVAR_074989350G → R in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472824Ensembl.1
Natural variantiVAR_074990351F → S in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473402Ensembl.1
Natural variantiVAR_009180353L → P in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473403Ensembl.1
Natural variantiVAR_074991354K → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473404Ensembl.1
Natural variantiVAR_074992360R → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473407Ensembl.1
Natural variantiVAR_074993360R → T in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473407Ensembl.1
Natural variantiVAR_048025362K → R in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs12720458Ensembl.1
Natural variantiVAR_074994365N → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473409Ensembl.1
Natural variantiVAR_001543366R → P in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473410Ensembl.1
Natural variantiVAR_009929366R → Q in LQT1. 1 Publication