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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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).

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P51787

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNQ1Imported
Synonyms:KCNA8Imported, KCNA9Imported, KVLQT11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000053918.15

Human Gene Nomenclature Database

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HGNCi
HGNC:6294 KCNQ1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607542 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P51787

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 121CytoplasmicSequence analysisAdd BLAST121
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei300 – 320Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini321 – 327ExtracellularSequence analysis7
Transmembranei328 – 348Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini349 – 676CytoplasmicSequence analysisAdd BLAST328

Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Long QT syndrome 1 (LQT1)42 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0749272A → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473442EnsemblClinVar.1
Natural variantiVAR_0749287P → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473443EnsemblClinVar.1
Natural variantiVAR_07492946A → T in LQT1; unknown pathological significance; hardly any effect on channel activity, shows fast activation. 3 PublicationsCorresponds to variant dbSNP:rs199473671EnsemblClinVar.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:rs199473446EnsemblClinVar.1
Natural variantiVAR_00991771 – 73Missing in LQT1. 1 Publication3
Natural variantiVAR_06828773P → T in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472676EnsemblClinVar.1
Natural variantiVAR_009918111Y → C in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472678EnsemblClinVar.1
Natural variantiVAR_068288115E → G in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472679EnsemblClinVar.1
Natural variantiVAR_074932117P → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074191EnsemblClinVar.1
Natural variantiVAR_068289122C → Y in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472681EnsemblClinVar.1
Natural variantiVAR_074933127F → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472682EnsemblClinVar.1
Natural variantiVAR_068290133V → I in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473449EnsemblClinVar.1
Natural variantiVAR_074934134L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472685EnsemblClinVar.1
Natural variantiVAR_068291136C → F in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472686EnsemblClinVar.1
Natural variantiVAR_074935137L → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473450EnsemblClinVar.1
Natural variantiVAR_074936144T → A in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473451EnsemblClinVar.1
Natural variantiVAR_074937146E → K in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472688EnsemblClinVar.1
Natural variantiVAR_074938153T → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143709408EnsemblClinVar.1
Natural variantiVAR_008124157F → C in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472690EnsemblClinVar.1
Natural variantiVAR_009919160E → K in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473453EnsemblClinVar.1
Natural variantiVAR_074939162V → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472692EnsemblClinVar.1
Natural variantiVAR_001515167 – 168FG → W in LQT1. 2
Natural variantiVAR_001516168G → R in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs179489EnsemblClinVar.1
Natural variantiVAR_074940172V → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472694EnsemblClinVar.1
Natural variantiVAR_074941173V → D in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472695EnsemblClinVar.1
Natural variantiVAR_001517174R → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472696EnsemblClinVar.1
Natural variantiVAR_008939174R → H in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472697EnsemblClinVar.1
Natural variantiVAR_074942174R → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472697EnsemblClinVar.1
Natural variantiVAR_001518178A → P in LQT1; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs120074177EnsemblClinVar.1
Natural variantiVAR_009920178A → T in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs120074177EnsemblClinVar.1
Natural variantiVAR_009921179G → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473394EnsemblClinVar.1
Natural variantiVAR_074943184Y → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473661EnsemblClinVar.1
Natural variantiVAR_008125184Y → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473397EnsemblClinVar.1
Natural variantiVAR_074944186G → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473398EnsemblClinVar.1
Natural variantiVAR_001519189G → R in LQT1; familial sudden death. 1 PublicationCorresponds to variant dbSNP:rs104894252EnsemblClinVar.1
Natural variantiVAR_074945190R → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074178EnsemblClinVar.1
Natural variantiVAR_001520190R → Q in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant dbSNP:rs120074178EnsemblClinVar.1
Natural variantiVAR_074946190R → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473662EnsemblClinVar.1
Natural variantiVAR_074687191L → P in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473401EnsemblClinVar.1
Natural variantiVAR_074947192R → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472698EnsemblClinVar.1
Natural variantiVAR_009922194A → P in LQT1. Corresponds to variant dbSNP:rs199472699EnsemblClinVar.1
Natural variantiVAR_074948195R → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs150172393EnsemblClinVar.1
Natural variantiVAR_074949198I → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472700EnsemblClinVar.1
Natural variantiVAR_074950199S → A in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472701EnsemblClinVar.1
Natural variantiVAR_074951202D → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472702EnsemblClinVar.1
Natural variantiVAR_068292204I → F in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472703EnsemblClinVar.1
Natural variantiVAR_074952204I → M in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473455EnsemblClinVar.1
Natural variantiVAR_074953209S → F in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472704EnsemblClinVar.1
Natural variantiVAR_074954215V → M in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs17215479EnsemblClinVar.1
Natural variantiVAR_001521216G → R in LQT1. 1 Publication1
Natural variantiVAR_074955224T → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472706EnsemblClinVar.1
Natural variantiVAR_009923225S → L in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199473456EnsemblClinVar.1
Natural variantiVAR_074956231R → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473457EnsemblClinVar.1
Natural variantiVAR_074957231R → H in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472709EnsemblClinVar.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:rs199472710EnsemblClinVar.1
Natural variantiVAR_074958239L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473458EnsemblClinVar.1
Natural variantiVAR_074959241V → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472711EnsemblClinVar.1
Natural variantiVAR_008940242D → N in LQT1; decreases outward potassium current; decreases plasma membrane localization. 4 PublicationsCorresponds to variant dbSNP:rs199472712EnsemblClinVar.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:rs199472713EnsemblClinVar.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:rs120074196EnsemblClinVar.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:rs199473459EnsemblClinVar.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:rs199472715EnsemblClinVar.1
Natural variantiVAR_074960250L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472715EnsemblClinVar.1
Natural variantiVAR_068294254 – 256Missing in LQT1. 1 Publication3
Natural variantiVAR_074961254V → L in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074179EnsemblClinVar.1
Natural variantiVAR_001522254V → M in LQT1; associated with M-417 in a patient. 3 PublicationsCorresponds to variant dbSNP:rs120074179EnsemblClinVar.1
Natural variantiVAR_074962258H → N in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472717EnsemblClinVar.1
Natural variantiVAR_074963258H → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472718EnsemblClinVar.1
Natural variantiVAR_068295259R → C in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199472719EnsemblClinVar.1
Natural variantiVAR_074964259R → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472720EnsemblClinVar.1
Natural variantiVAR_068296259R → L in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472720EnsemblClinVar.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:rs199472722EnsemblClinVar.1
Natural variantiVAR_074965262L → V in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472723EnsemblClinVar.1
Natural variantiVAR_080331265T → I in LQT1; unknown pathological significance; no effect on channel activity. 1 PublicationCorresponds to variant dbSNP:rs199472724EnsemblClinVar.1
Natural variantiVAR_009924266L → P in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473460EnsemblClinVar.1
Natural variantiVAR_074966268I → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472725EnsemblClinVar.1
Natural variantiVAR_001524269G → D in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs120074194EnsemblClinVar.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:rs120074193EnsemblClinVar.1
Natural variantiVAR_074967272G → D in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472726EnsemblClinVar.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:rs120074180EnsemblClinVar.1
Natural variantiVAR_068297273L → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472727EnsemblClinVar.1
Natural variantiVAR_074968274I → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472728EnsemblClinVar.1
Natural variantiVAR_074690275F → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472729EnsemblClinVar.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:rs199472730EnsemblClinVar.1
Natural variantiVAR_074969277S → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473461EnsemblClinVar.1
Natural variantiVAR_074970277S → W in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472730EnsemblClinVar.1
Natural variantiVAR_068299278Y → H in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472731EnsemblClinVar.1
Natural variantiVAR_074971280V → E in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473462EnsemblClinVar.1
Natural variantiVAR_008945281Y → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472732EnsemblClinVar.1
Natural variantiVAR_074972282L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472733EnsemblClinVar.1
Natural variantiVAR_074973283A → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473463EnsemblClinVar.1
Natural variantiVAR_074974287A → E in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472735EnsemblClinVar.1
Natural variantiVAR_068300290E → K in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473464EnsemblClinVar.1
Natural variantiVAR_068301292G → D in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472736EnsemblClinVar.1
Natural variantiVAR_068302293R → C in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472737EnsemblClinVar.1
Natural variantiVAR_080332296F → S in LQT1; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs199472738EnsemblClinVar.1
Natural variantiVAR_001526300A → T in LQT1. 1 PublicationCorresponds to variant dbSNP:rs120074187EnsemblClinVar.1
Natural variantiVAR_074975302A → E in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs193922365EnsemblClinVar.1
Natural variantiVAR_074976302A → T in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472739EnsemblClinVar.1
Natural variantiVAR_068303302A → V in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant dbSNP:rs193922365EnsemblClinVar.1
Natural variantiVAR_074977303L → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472740EnsemblClinVar.1
Natural variantiVAR_068304304W → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473466EnsemblClinVar.1
Natural variantiVAR_074978305W → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472741EnsemblClinVar.1
Natural variantiVAR_001528306G → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074181EnsemblClinVar.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:rs199472742EnsemblClinVar.1
Natural variantiVAR_074979308V → D in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473467EnsemblClinVar.1
Natural variantiVAR_001529309T → R in LQT1. Corresponds to variant dbSNP:rs199472743EnsemblClinVar.1
Natural variantiVAR_009926310V → I in LQT1. Corresponds to variant dbSNP:rs199472745EnsemblClinVar.1
Natural variantiVAR_001530312T → I in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant dbSNP:rs120074182EnsemblClinVar.1
Natural variantiVAR_001531313I → M in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472747EnsemblClinVar.1
Natural variantiVAR_074980314G → C in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074184EnsemblClinVar.1
Natural variantiVAR_068305314G → D in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472748EnsemblClinVar.1
Natural variantiVAR_068306314G → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs120074184EnsemblClinVar.1
Natural variantiVAR_001532314G → S in LQT1. 7 PublicationsCorresponds to variant dbSNP:rs120074184EnsemblClinVar.1
Natural variantiVAR_008946315Y → C in LQT1. 5 PublicationsCorresponds to variant dbSNP:rs74462309EnsemblClinVar.1
Natural variantiVAR_001533315Y → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs74462309EnsemblClinVar.1
Natural variantiVAR_074981316G → E in LQT1; loss of channel activity. 3 PublicationsCorresponds to variant dbSNP:rs199472749EnsemblClinVar.1
Natural variantiVAR_068307316G → R in LQT1. 1 PublicationCorresponds to variant dbSNP:rs104894255EnsemblClinVar.1
Natural variantiVAR_074982316G → V in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472749EnsemblClinVar.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:rs199472751EnsemblClinVar.1
Natural variantiVAR_008947318K → N in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472752EnsemblClinVar.1
Natural variantiVAR_001535320P → A in LQT1; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs199472753EnsemblClinVar.1
Natural variantiVAR_065778320P → H in LQT1; loss of function mutation acting in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs199473470EnsemblClinVar.1
Natural variantiVAR_074983320P → S in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472753EnsemblClinVar.1
Natural variantiVAR_068308322T → A in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199472754EnsemblClinVar.1
Natural variantiVAR_001536325G → R in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472756EnsemblClinVar.1
Natural variantiVAR_080333339F → S in LQT1; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs199472759EnsemblClinVar.1
Natural variantiVAR_074984339F → Y in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472759EnsemblClinVar.1
Natural variantiVAR_001537339Missing in LQT1. 2 Publications1
Natural variantiVAR_001538341A → E in LQT1. 1 PublicationCorresponds to variant dbSNP:rs12720459EnsemblClinVar.1
Natural variantiVAR_074985341A → G in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs12720459EnsemblClinVar.1
Natural variantiVAR_001539341A → V in LQT1. 6 PublicationsCorresponds to variant dbSNP:rs12720459EnsemblClinVar.1
Natural variantiVAR_001540342L → F in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472760EnsemblClinVar.1
Natural variantiVAR_074986343P → L in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472761EnsemblClinVar.1
Natural variantiVAR_074987343P → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472761EnsemblClinVar.1
Natural variantiVAR_068309343P → S in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472762EnsemblClinVar.1
Natural variantiVAR_068310344A → E in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472763EnsemblClinVar.1
Natural variantiVAR_001541344A → V in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472763EnsemblClinVar.1
Natural variantiVAR_001542345G → E in LQT1. 1 PublicationCorresponds to variant dbSNP:rs120074183EnsemblClinVar.1
Natural variantiVAR_008126345G → R in LQT1; familial sudden death. 1 PublicationCorresponds to variant dbSNP:rs199473471EnsemblClinVar.1
Natural variantiVAR_074988349S → P in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472764EnsemblClinVar.1
Natural variantiVAR_009928349S → W in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199472765EnsemblClinVar.1
Natural variantiVAR_074989350G → R in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199472824EnsemblClinVar.1
Natural variantiVAR_074990351F → S in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473402EnsemblClinVar.1
Natural variantiVAR_009180353L → P in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs199473403EnsemblClinVar.1
Natural variantiVAR_074991354K → R in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473404EnsemblClinVar.1
Natural variantiVAR_080334360R → G in LQT1; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs199473406EnsemblClinVar.1
Natural variantiVAR_074992360R → M in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473407EnsemblClinVar.1
Natural variantiVAR_074993360R → T in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473407EnsemblClinVar.1
Natural variantiVAR_048025362K → R in LQT1. 2 PublicationsCorresponds to variant dbSNP:rs12720458EnsemblClinVar.1
Natural variantiVAR_074994365N → H in LQT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473409EnsemblClinVar.1
Natural variantiVAR_001543366R → P in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473410EnsemblClinVar.1
Natural variantiVAR_009929366R → Q in LQT1. 1 PublicationCorresponds to variant dbSNP:rs199473410EnsemblClinVar.1
Natural variantiVAR_008948366R → W in LQT1. 3 PublicationsCorresponds to variant dbSNP:rs199473411EnsemblClinVar.1
Natural variantiVAR_001544371A → T in LQT1. Corresponds to variant dbSNP:rs199473412EnsemblClinVar.1
Natural varianti