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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

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 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
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Calmodulin-binding, Potassium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000053918-MONOMER.
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
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
Complete GO annotation...

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 rs199473442dbSNPEnsembl.1
Natural variantiVAR_0749287P → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473443dbSNPEnsembl.1
Natural variantiVAR_07492946A → T in LQT1. 2 PublicationsCorresponds to variant rs199473671dbSNPEnsembl.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 rs199473446dbSNPEnsembl.1
Natural variantiVAR_00991771 – 73Missing in LQT1. 1 Publication3
Natural variantiVAR_06828773P → T in LQT1. 2 PublicationsCorresponds to variant rs199472676dbSNPEnsembl.1
Natural variantiVAR_009918111Y → C in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472678dbSNPEnsembl.1
Natural variantiVAR_068288115E → G in LQT1. 1 PublicationCorresponds to variant rs199472679dbSNPEnsembl.1
Natural variantiVAR_074932117P → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074191dbSNPEnsembl.1
Natural variantiVAR_068289122C → Y in LQT1. 1 PublicationCorresponds to variant rs199472681dbSNPEnsembl.1
Natural variantiVAR_074933127F → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472682dbSNPEnsembl.1
Natural variantiVAR_068290133V → I in LQT1. 2 PublicationsCorresponds to variant rs199473449dbSNPEnsembl.1
Natural variantiVAR_074934134L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472685dbSNPEnsembl.1
Natural variantiVAR_068291136C → F in LQT1. 1 PublicationCorresponds to variant rs199472686dbSNPEnsembl.1
Natural variantiVAR_074935137L → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473450dbSNPEnsembl.1
Natural variantiVAR_074936144T → A in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473451dbSNPEnsembl.1
Natural variantiVAR_074937146E → K in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472688dbSNPEnsembl.1
Natural variantiVAR_074938153T → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs143709408dbSNPEnsembl.1
Natural variantiVAR_008124157F → C in LQT1. 1 PublicationCorresponds to variant rs199472690dbSNPEnsembl.1
Natural variantiVAR_009919160E → K in LQT1. 1 PublicationCorresponds to variant rs199473453dbSNPEnsembl.1
Natural variantiVAR_074939162V → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472692dbSNPEnsembl.1
Natural variantiVAR_001515167 – 168FG → W in LQT1. 2
Natural variantiVAR_001516168G → R in LQT1. 3 PublicationsCorresponds to variant rs179489dbSNPEnsembl.1
Natural variantiVAR_074940172V → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472694dbSNPEnsembl.1
Natural variantiVAR_074941173V → D in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472695dbSNPEnsembl.1
Natural variantiVAR_001517174R → C in LQT1. 2 PublicationsCorresponds to variant rs199472696dbSNPEnsembl.1
Natural variantiVAR_008939174R → H in LQT1. 2 PublicationsCorresponds to variant rs199472697dbSNPEnsembl.1
Natural variantiVAR_074942174R → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472697dbSNPEnsembl.1
Natural variantiVAR_001518178A → P in LQT1; loss of channel activity. 1 PublicationCorresponds to variant rs120074177dbSNPEnsembl.1
Natural variantiVAR_009920178A → T in LQT1. 2 PublicationsCorresponds to variant rs120074177dbSNPEnsembl.1
Natural variantiVAR_009921179G → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473394dbSNPEnsembl.1
Natural variantiVAR_074943184Y → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473661dbSNPEnsembl.1
Natural variantiVAR_008125184Y → S in LQT1. 1 PublicationCorresponds to variant rs199473397dbSNPEnsembl.1
Natural variantiVAR_074944186G → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473398dbSNPEnsembl.1
Natural variantiVAR_001519189G → R in LQT1; familial sudden death. 1 PublicationCorresponds to variant rs104894252dbSNPEnsembl.1
Natural variantiVAR_074945190R → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074178dbSNPEnsembl.1
Natural variantiVAR_001520190R → Q in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant rs120074178dbSNPEnsembl.1
Natural variantiVAR_074946190R → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473662dbSNPEnsembl.1
Natural variantiVAR_074687191L → P in LQT1. 1 PublicationCorresponds to variant rs199473401dbSNPEnsembl.1
Natural variantiVAR_074947192R → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472698dbSNPEnsembl.1
Natural variantiVAR_009922194A → P in LQT1. Corresponds to variant rs199472699dbSNPEnsembl.1
Natural variantiVAR_074948195R → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs150172393dbSNPEnsembl.1
Natural variantiVAR_074949198I → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472700dbSNPEnsembl.1
Natural variantiVAR_074950199S → A in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472701dbSNPEnsembl.1
Natural variantiVAR_074951202D → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472702dbSNPEnsembl.1
Natural variantiVAR_068292204I → F in LQT1. 1 PublicationCorresponds to variant rs199472703dbSNPEnsembl.1
Natural variantiVAR_074952204I → M in LQT1. 2 PublicationsCorresponds to variant rs199473455dbSNPEnsembl.1
Natural variantiVAR_074953209S → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472704dbSNPEnsembl.1
Natural variantiVAR_074954215V → M in LQT1. 2 PublicationsCorresponds to variant rs17215479dbSNPEnsembl.1
Natural variantiVAR_001521216G → R in LQT1. 1 Publication1
Natural variantiVAR_074955224T → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472706dbSNPEnsembl.1
Natural variantiVAR_009923225S → L in LQT1. 3 PublicationsCorresponds to variant rs199473456dbSNPEnsembl.1
Natural variantiVAR_074956231R → C in LQT1. 2 PublicationsCorresponds to variant rs199473457dbSNPEnsembl.1
Natural variantiVAR_074957231R → H in LQT1. 2 PublicationsCorresponds to variant rs199472709dbSNPEnsembl.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 rs199472710dbSNPEnsembl.1
Natural variantiVAR_074958239L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473458dbSNPEnsembl.1
Natural variantiVAR_074959241V → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472711dbSNPEnsembl.1
Natural variantiVAR_008940242D → N in LQT1; decreases outward potassium current; decreases plasma membrane localization. 4 PublicationsCorresponds to variant rs199472712dbSNPEnsembl.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 rs199472713dbSNPEnsembl.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 rs120074196dbSNPEnsembl.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 rs199473459dbSNPEnsembl.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 rs199472715dbSNPEnsembl.1
Natural variantiVAR_074960250L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472715dbSNPEnsembl.1
Natural variantiVAR_068294254 – 256Missing in LQT1. 1 Publication3
Natural variantiVAR_074961254V → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074179dbSNPEnsembl.1
Natural variantiVAR_001522254V → M in LQT1; associated with M-417 in a patient. 3 PublicationsCorresponds to variant rs120074179dbSNPEnsembl.1
Natural variantiVAR_074962258H → N in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472717dbSNPEnsembl.1
Natural variantiVAR_074963258H → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472718dbSNPEnsembl.1
Natural variantiVAR_068295259R → C in LQT1. 3 PublicationsCorresponds to variant rs199472719dbSNPEnsembl.1
Natural variantiVAR_074964259R → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472720dbSNPEnsembl.1
Natural variantiVAR_068296259R → L in LQT1. 2 PublicationsCorresponds to variant rs199472720dbSNPEnsembl.1
Natural variantiVAR_001523261E → K in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits. 1 PublicationCorresponds to variant rs199472722dbSNPEnsembl.1
Natural variantiVAR_074965262L → V in LQT1. 2 PublicationsCorresponds to variant rs199472723dbSNPEnsembl.1
Natural variantiVAR_009924266L → P in LQT1. 2 PublicationsCorresponds to variant rs199473460dbSNPEnsembl.1
Natural variantiVAR_074966268I → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472725dbSNPEnsembl.1
Natural variantiVAR_001524269G → D in LQT1. 2 PublicationsCorresponds to variant rs120074194dbSNPEnsembl.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 rs120074193dbSNPEnsembl.1
Natural variantiVAR_074967272G → D in LQT1. 2 PublicationsCorresponds to variant rs199472726dbSNPEnsembl.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 rs120074180dbSNPEnsembl.1
Natural variantiVAR_068297273L → R in LQT1. 1 PublicationCorresponds to variant rs199472727dbSNPEnsembl.1
Natural variantiVAR_074968274I → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472728dbSNPEnsembl.1
Natural variantiVAR_074690275F → S in LQT1. 1 PublicationCorresponds to variant rs199472729dbSNPEnsembl.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 rs199472730dbSNPEnsembl.1
Natural variantiVAR_074969277S → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473461dbSNPEnsembl.1
Natural variantiVAR_074970277S → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472730dbSNPEnsembl.1
Natural variantiVAR_068299278Y → H in LQT1. 1 PublicationCorresponds to variant rs199472731dbSNPEnsembl.1
Natural variantiVAR_074971280V → E in LQT1. 2 PublicationsCorresponds to variant rs199473462dbSNPEnsembl.1
Natural variantiVAR_008945281Y → C in LQT1. 2 PublicationsCorresponds to variant rs199472732dbSNPEnsembl.1
Natural variantiVAR_074972282L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472733dbSNPEnsembl.1
Natural variantiVAR_074973283A → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473463dbSNPEnsembl.1
Natural variantiVAR_074974287A → E in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472735dbSNPEnsembl.1
Natural variantiVAR_068300290E → K in LQT1. 1 PublicationCorresponds to variant rs199473464dbSNPEnsembl.1
Natural variantiVAR_068301292G → D in LQT1. 2 PublicationsCorresponds to variant rs199472736dbSNPEnsembl.1
Natural variantiVAR_068302293R → C in LQT1. 2 PublicationsCorresponds to variant rs199472737dbSNPEnsembl.1
Natural variantiVAR_001526300A → T in LQT1. 1 PublicationCorresponds to variant rs120074187dbSNPEnsembl.1
Natural variantiVAR_074975302A → E in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs193922365dbSNPEnsembl.1
Natural variantiVAR_074976302A → T in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472739dbSNPEnsembl.1
Natural variantiVAR_068303302A → V in LQT1. 2 PublicationsCorresponds to variant rs193922365dbSNPEnsembl.1
Natural variantiVAR_074977303L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472740dbSNPEnsembl.1
Natural variantiVAR_068304304W → R in LQT1. 1 PublicationCorresponds to variant rs199473466dbSNPEnsembl.1
Natural variantiVAR_074978305W → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472741dbSNPEnsembl.1
Natural variantiVAR_001528306G → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074181dbSNPEnsembl.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 rs199472742dbSNPEnsembl.1
Natural variantiVAR_074979308V → D in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473467dbSNPEnsembl.1
Natural variantiVAR_001529309T → R in LQT1. Corresponds to variant rs199472743dbSNPEnsembl.1
Natural variantiVAR_009926310V → I in LQT1. Corresponds to variant rs199472745dbSNPEnsembl.1
Natural variantiVAR_009927311T → I in LQT1 and JLNS1; impairs outward potassium current; affects plasma membrane localization. 2 PublicationsCorresponds to variant rs199472746dbSNPEnsembl.1
Natural variantiVAR_001530312T → I in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant rs120074182dbSNPEnsembl.1
Natural variantiVAR_001531313I → M in LQT1. 1 PublicationCorresponds to variant rs199472747dbSNPEnsembl.1
Natural variantiVAR_074980314G → C in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs120074184dbSNPEnsembl.1
Natural variantiVAR_068305314G → D in LQT1. 1 PublicationCorresponds to variant rs199472748dbSNPEnsembl.1
Natural variantiVAR_068306314G → R in LQT1. 1 PublicationCorresponds to variant rs120074184dbSNPEnsembl.1
Natural variantiVAR_001532314G → S in LQT1. 7 PublicationsCorresponds to variant rs120074184dbSNPEnsembl.1
Natural variantiVAR_008946315Y → C in LQT1. 5 PublicationsCorresponds to variant rs74462309dbSNPEnsembl.1
Natural variantiVAR_001533315Y → S in LQT1. 1 PublicationCorresponds to variant rs74462309dbSNPEnsembl.1
Natural variantiVAR_074981316G → E in LQT1. 2 PublicationsCorresponds to variant rs199472749dbSNPEnsembl.1
Natural variantiVAR_068307316G → R in LQT1. 1 PublicationCorresponds to variant rs104894255dbSNPEnsembl.1
Natural variantiVAR_074982316G → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472749dbSNPEnsembl.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 rs199472751dbSNPEnsembl.1
Natural variantiVAR_008947318K → N in LQT1. 1 PublicationCorresponds to variant rs199472752dbSNPEnsembl.1
Natural variantiVAR_001535320P → A in LQT1; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant rs199472753dbSNPEnsembl.1
Natural variantiVAR_065778320P → H in LQT1; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant rs199473470dbSNPEnsembl.1
Natural variantiVAR_074983320P → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472753dbSNPEnsembl.1
Natural variantiVAR_068308322T → A in LQT1. 3 PublicationsCorresponds to variant rs199472754dbSNPEnsembl.1
Natural variantiVAR_074692322T → M in JLNS1 and LQT1; impairs outward potassium current; affects plasma membrane localization. 4 PublicationsCorresponds to variant rs199472755dbSNPEnsembl.1
Natural variantiVAR_001536325G → R in LQT1. 2 PublicationsCorresponds to variant rs199472756dbSNPEnsembl.1
Natural variantiVAR_074984339F → Y in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472759dbSNPEnsembl.1
Natural variantiVAR_001537339Missing in LQT1. 2 Publications1
Natural variantiVAR_001538341A → E in LQT1. 1 PublicationCorresponds to variant rs12720459dbSNPEnsembl.1
Natural variantiVAR_074985341A → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs12720459dbSNPEnsembl.1
Natural variantiVAR_001539341A → V in LQT1. 6 PublicationsCorresponds to variant rs12720459dbSNPEnsembl.1
Natural variantiVAR_001540342L → F in LQT1. 1 PublicationCorresponds to variant rs199472760dbSNPEnsembl.1
Natural variantiVAR_074986343P → L in LQT1. 2 PublicationsCorresponds to variant rs199472761dbSNPEnsembl.1
Natural variantiVAR_074987343P → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472761dbSNPEnsembl.1
Natural variantiVAR_068309343P → S in LQT1. 1 PublicationCorresponds to variant rs199472762dbSNPEnsembl.1
Natural variantiVAR_068310344A → E in LQT1. 1 PublicationCorresponds to variant rs199472763dbSNPEnsembl.1
Natural variantiVAR_001541344A → V in LQT1. 2 PublicationsCorresponds to variant rs199472763dbSNPEnsembl.1
Natural variantiVAR_001542345G → E in LQT1. 1 PublicationCorresponds to variant rs120074183dbSNPEnsembl.1
Natural variantiVAR_008126345G → R in LQT1; familial sudden death. 1 PublicationCorresponds to variant rs199473471dbSNPEnsembl.1
Natural variantiVAR_074988349S → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199472764dbSNPEnsembl.1
Natural variantiVAR_009928349S → W in LQT1. 1 PublicationCorresponds to variant rs199472765dbSNPEnsembl.1
Natural variantiVAR_074989350G → R in LQT1. 2 PublicationsCorresponds to variant rs199472824dbSNPEnsembl.1
Natural variantiVAR_074990351F → S in LQT1. 2 PublicationsCorresponds to variant rs199473402dbSNPEnsembl.1
Natural variantiVAR_009180353L → P in LQT1. 2 PublicationsCorresponds to variant rs199473403dbSNPEnsembl.1
Natural variantiVAR_074991354K → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473404dbSNPEnsembl.1
Natural variantiVAR_074992360R → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473407dbSNPEnsembl.1
Natural variantiVAR_074993360R → T in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473407dbSNPEnsembl.1
Natural variantiVAR_048025362K → R in LQT1. 2 PublicationsCorresponds to variant rs12720458dbSNPEnsembl.1
Natural variantiVAR_074994365N → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473409dbSNPEnsembl.1
Natural variantiVAR_001543366R → P in LQT1. 1 Publication