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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 defense response to virus by host Source: ParkinsonsUK-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
  • xenophagy Source: ParkinsonsUK-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

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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei122 – 14221Helical; Name=Segment S1Sequence analysisAdd
BLAST
Topological domaini143 – 1475ExtracellularSequence analysis
Transmembranei148 – 16821Helical; Name=Segment S2Sequence analysisAdd
BLAST
Topological domaini169 – 19628CytoplasmicSequence analysisAdd
BLAST
Transmembranei197 – 21721Helical; Name=Segment S3Sequence analysisAdd
BLAST
Topological domaini218 – 2258ExtracellularSequence analysis
Transmembranei226 – 24823Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd
BLAST
Topological domaini249 – 26113CytoplasmicSequence analysisAdd
BLAST
Transmembranei262 – 28221Helical; Name=Segment S5Sequence analysisAdd
BLAST
Topological domaini283 – 29917ExtracellularSequence analysisAdd
BLAST
Intramembranei300 – 32021Pore-forming; Name=Segment H5Sequence analysisAdd
BLAST
Topological domaini321 – 3277ExtracellularSequence analysis
Transmembranei328 – 34821Helical; Name=Segment S6Sequence analysisAdd
BLAST
Topological domaini349 – 676328CytoplasmicSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → V in LQT1; unknown pathological significance. 1 Publication
VAR_074927
Natural varianti7 – 71P → S in LQT1; unknown pathological significance. 1 Publication
VAR_074928
Natural varianti46 – 461A → T in LQT1. 2 Publications
VAR_074929
Natural varianti64 – 707Missing in LQT1; unknown pathological significance. 1 Publication
VAR_074930
Natural varianti66 – 661S → F in LQT1; unknown pathological significance. 1 Publication
VAR_074931
Natural varianti71 – 733Missing in LQT1. 1 Publication
VAR_009917
Natural varianti73 – 731P → T in LQT1. 2 Publications
VAR_068287
Natural varianti111 – 1111Y → C in LQT1; unknown pathological significance. 1 Publication
VAR_009918
Natural varianti115 – 1151E → G in LQT1. 1 Publication
VAR_068288
Natural varianti117 – 1171P → L in LQT1; unknown pathological significance. 1 Publication
VAR_074932
Natural varianti122 – 1221C → Y in LQT1. 1 Publication
VAR_068289
Natural varianti127 – 1271F → L in LQT1; unknown pathological significance. 1 Publication
VAR_074933
Natural varianti133 – 1331V → I in LQT1. 2 Publications
VAR_068290
Natural varianti134 – 1341L → P in LQT1; unknown pathological significance. 1 Publication
VAR_074934
Natural varianti136 – 1361C → F in LQT1. 1 Publication
VAR_068291
Natural varianti137 – 1371L → F in LQT1; unknown pathological significance. 1 Publication
VAR_074935
Natural varianti144 – 1441T → A in LQT1; unknown pathological significance. 1 Publication
VAR_074936
Natural varianti146 – 1461E → K in LQT1; unknown pathological significance. 1 Publication
VAR_074937
Natural varianti153 – 1531T → M in LQT1; unknown pathological significance. 1 Publication
VAR_074938
Natural varianti157 – 1571F → C in LQT1. 1 Publication
VAR_008124
Natural varianti160 – 1601E → K in LQT1. 1 Publication
VAR_009919
Natural varianti162 – 1621V → M in LQT1; unknown pathological significance. 1 Publication
VAR_074939
Natural varianti167 – 1682FG → W in LQT1.
VAR_001515
Natural varianti168 – 1681G → R in LQT1. 3 Publications
Corresponds to variant rs179489 [ dbSNP | Ensembl ].
VAR_001516
Natural varianti172 – 1721V → M in LQT1; unknown pathological significance. 1 Publication
VAR_074940
Natural varianti173 – 1731V → D in LQT1; unknown pathological significance. 1 Publication
VAR_074941
Natural varianti174 – 1741R → C in LQT1. 2 Publications
VAR_001517
Natural varianti174 – 1741R → H in LQT1. 2 Publications
VAR_008939
Natural varianti174 – 1741R → P in LQT1; unknown pathological significance. 1 Publication
VAR_074942
Natural varianti178 – 1781A → P in LQT1; loss of channel activity. 1 Publication
VAR_001518
Natural varianti178 – 1781A → T in LQT1. 2 Publications
VAR_009920
Natural varianti179 – 1791G → S in LQT1; unknown pathological significance. 1 Publication
VAR_009921
Natural varianti184 – 1841Y → H in LQT1; unknown pathological significance. 1 Publication
VAR_074943
Natural varianti184 – 1841Y → S in LQT1. 1 Publication
VAR_008125
Natural varianti186 – 1861G → R in LQT1; unknown pathological significance. 1 Publication
VAR_074944
Natural varianti189 – 1891G → R in LQT1; familial sudden death. 1 Publication
VAR_001519
Natural varianti190 – 1901R → L in LQT1; unknown pathological significance. 1 Publication
VAR_074945
Natural varianti190 – 1901R → Q in LQT1; loss of channel activity. 3 Publications
VAR_001520
Natural varianti190 – 1901R → W in LQT1; unknown pathological significance. 1 Publication
VAR_074946
Natural varianti191 – 1911L → P in LQT1. 1 Publication
VAR_074687
Natural varianti192 – 1921R → P in LQT1; unknown pathological significance. 1 Publication
VAR_074947
Natural varianti194 – 1941A → P in LQT1.
VAR_009922
Natural varianti195 – 1951R → W in LQT1; unknown pathological significance. 1 Publication
VAR_074948
Natural varianti198 – 1981I → V in LQT1; unknown pathological significance. 1 Publication
VAR_074949
Natural varianti199 – 1991S → A in LQT1; unknown pathological significance. 1 Publication
VAR_074950
Natural varianti202 – 2021D → H in LQT1; unknown pathological significance. 1 Publication
VAR_074951
Natural varianti204 – 2041I → F in LQT1. 1 Publication
VAR_068292
Natural varianti204 – 2041I → M in LQT1. 2 Publications
VAR_074952
Natural varianti209 – 2091S → F in LQT1; unknown pathological significance. 1 Publication
VAR_074953
Natural varianti215 – 2151V → M in LQT1. 2 Publications
VAR_074954
Natural varianti216 – 2161G → R in LQT1. 1 Publication
VAR_001521
Natural varianti224 – 2241T → M in LQT1; unknown pathological significance. 1 Publication
VAR_074955
Natural varianti225 – 2251S → L in LQT1. 3 Publications
VAR_009923
Natural varianti231 – 2311R → C in LQT1. 2 Publications
VAR_074956
Natural varianti231 – 2311R → H in LQT1. 2 Publications
VAR_074957
Natural varianti235 – 2351I → N in LQT1; decreases delayed rectifier potassium current Iks; prevents the up-regulation of Iks through PKA activation. 3 Publications
VAR_068293
Natural varianti239 – 2391L → P in LQT1; unknown pathological significance. 1 Publication
VAR_074958
Natural varianti241 – 2411V → G in LQT1; unknown pathological significance. 1 Publication
VAR_074959
Natural varianti242 – 2421D → N in LQT1; decreases outward potassium current; decreases plasma membrane localization. 4 Publications
VAR_008940
Natural varianti243 – 2431R → C in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 3 Publications
VAR_010933
Natural varianti243 – 2431R → P in LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization. 2 Publications
VAR_074688
Natural varianti248 – 2481W → R in LQT1; slower rate of activation and voltage dependence of activation-inactivation shifted to more positive potentials (homomultimers); channels non-functional (heteromultimers). 1 Publication
VAR_008942
Natural varianti250 – 2501L → H in LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization. 2 Publications
VAR_008943
Natural varianti250 – 2501L → P in LQT1; unknown pathological significance. 1 Publication
VAR_074960
Natural varianti254 – 2563Missing in LQT1. 1 Publication
VAR_068294
Natural varianti254 – 2541V → L in LQT1; unknown pathological significance. 1 Publication
VAR_074961
Natural varianti254 – 2541V → M in LQT1; associated with M-417 in a patient. 3 Publications
VAR_001522
Natural varianti258 – 2581H → N in LQT1; unknown pathological significance. 1 Publication
VAR_074962
Natural varianti258 – 2581H → R in LQT1; unknown pathological significance. 1 Publication
VAR_074963
Natural varianti259 – 2591R → C in LQT1. 3 Publications
VAR_068295
Natural varianti259 – 2591R → H in LQT1; unknown pathological significance. 1 Publication
VAR_074964
Natural varianti259 – 2591R → L in LQT1. 2 Publications
VAR_068296
Natural varianti261 – 2611E → K in LQT1; loss of channel activity and no interaction with wt KVLQT1 or MINK subunits. 1 Publication
VAR_001523
Natural varianti262 – 2621L → V in LQT1. 2 Publications
VAR_074965
Natural varianti266 – 2661L → P in LQT1. 2 Publications
VAR_009924
Natural varianti268 – 2681I → S in LQT1; unknown pathological significance. 1 Publication
VAR_074966
Natural varianti269 – 2691G → D in LQT1. 2 Publications
VAR_001524
Natural varianti269 – 2691G → S in LQT1; decreases IKs amplitude; accelerates the IKs deactivation; effect on plasma membrane localization; reduces up-regulation of Iks through PKA activation. 3 Publications
VAR_009925
Natural varianti272 – 2721G → D in LQT1. 2 Publications
VAR_074967
Natural varianti273 – 2731L → F in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers). 4 Publications
VAR_001525
Natural varianti273 – 2731L → R in LQT1. 1 Publication
VAR_068297
Natural varianti274 – 2741I → V in LQT1; unknown pathological significance. 1 Publication
VAR_074968
Natural varianti275 – 2751F → S in LQT1. 1 Publication
VAR_074690
Natural varianti276 – 2761Missing in LQT1. 1 Publication
VAR_068298
Natural varianti277 – 2771S → L in LQT1; loss of function mutation acting in a dominant-negative manner. 4 Publications
VAR_065777
Natural varianti277 – 2771S → P in LQT1; unknown pathological significance. 1 Publication
VAR_074969
Natural varianti277 – 2771S → W in LQT1; unknown pathological significance. 1 Publication
VAR_074970
Natural varianti278 – 2781Y → H in LQT1. 1 Publication
VAR_068299
Natural varianti280 – 2801V → E in LQT1. 2 Publications
VAR_074971
Natural varianti281 – 2811Y → C in LQT1. 2 Publications
VAR_008945
Natural varianti282 – 2821L → P in LQT1; unknown pathological significance. 1 Publication
VAR_074972
Natural varianti283 – 2831A → G in LQT1; unknown pathological significance. 1 Publication
VAR_074973
Natural varianti287 – 2871A → E in LQT1; unknown pathological significance. 1 Publication
VAR_074974
Natural varianti290 – 2901E → K in LQT1. 1 Publication
VAR_068300
Natural varianti292 – 2921G → D in LQT1. 2 Publications
VAR_068301
Natural varianti293 – 2931R → C in LQT1. 2 Publications
VAR_068302
Natural varianti300 – 3001A → T in LQT1. 1 Publication
VAR_001526
Natural varianti302 – 3021A → E in LQT1; unknown pathological significance. 1 Publication
VAR_074975
Natural varianti302 – 3021A → T in LQT1; unknown pathological significance. 1 Publication
VAR_074976
Natural varianti302 – 3021A → V in LQT1. 2 Publications
VAR_068303
Natural varianti303 – 3031L → P in LQT1; unknown pathological significance. 1 Publication
VAR_074977
Natural varianti304 – 3041W → R in LQT1. 1 Publication
VAR_068304
Natural varianti305 – 3051W → R in LQT1; unknown pathological significance. 1 Publication
VAR_074978
Natural varianti306 – 3061G → R in LQT1; unknown pathological significance. 1 Publication
VAR_001528
Natural varianti306 – 3061G → V in LQT1; complete loss of outward potassium current; enhances outward potassium current when co-transfected with wild type; decreases plasma membrane localization. 2 Publications
VAR_074691
Natural varianti308 – 3081V → D in LQT1; unknown pathological significance. 1 Publication
VAR_074979
Natural varianti309 – 3091T → R in LQT1.
VAR_001529
Natural varianti310 – 3101V → I in LQT1.
VAR_009926
Natural varianti311 – 3111T → I in LQT1 and JLNS1; impairs outward potassium current; affects plasma membrane localization. 2 Publications
VAR_009927
Natural varianti312 – 3121T → I in LQT1; loss of channel activity. 3 Publications
VAR_001530
Natural varianti313 – 3131I → M in LQT1. 1 Publication
VAR_001531
Natural varianti314 – 3141G → C in LQT1; unknown pathological significance. 1 Publication
VAR_074980
Natural varianti314 – 3141G → D in LQT1. 1 Publication
VAR_068305
Natural varianti314 – 3141G → R in LQT1. 1 Publication
VAR_068306
Natural varianti314 – 3141G → S in LQT1. 7 Publications
VAR_001532
Natural varianti315 – 3151Y → C in LQT1. 5 Publications
VAR_008946
Natural varianti315 – 3151Y → S in LQT1. 1 Publication
VAR_001533
Natural varianti316 – 3161G → E in LQT1. 2 Publications
VAR_074981
Natural varianti316 – 3161G → R in LQT1. 1 Publication
VAR_068307
Natural varianti316 – 3161G → V in LQT1; unknown pathological significance. 1 Publication
VAR_074982
Natural varianti317 – 3171D → 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 Publications
VAR_001534
Natural varianti318 – 3181K → N in LQT1. 1 Publication
VAR_008947
Natural varianti320 – 3201P → A in LQT1; loss of function mutation acting in a dominant-negative manner. 1 Publication
VAR_001535
Natural varianti320 – 3201P → H in LQT1; loss of function mutation acting in a dominant-negative manner. 1 Publication
VAR_065778
Natural varianti320 – 3201P → S in LQT1; unknown pathological significance. 1 Publication
VAR_074983
Natural varianti322 – 3221T → A in LQT1. 3 Publications
VAR_068308
Natural varianti322 – 3221T → M in JLNS1 and LQT1; impairs outward potassium current; affects plasma membrane localization. 4 Publications
VAR_074692
Natural varianti325 – 3251G → R in LQT1. 2 Publications
VAR_001536
Natural varianti339 – 3391F → Y in LQT1; unknown pathological significance. 1 Publication
VAR_074984
Natural varianti339 – 3391Missing in LQT1. 2 Publications
VAR_001537
Natural varianti341 – 3411A → E in LQT1. 1 Publication
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001538
Natural varianti341 – 3411A → G in LQT1; unknown pathological significance. 1 Publication
VAR_074985
Natural varianti341 – 3411A → V in LQT1. 6 Publications
Corresponds to variant rs12720459 [ dbSNP | Ensembl ].
VAR_001539
Natural varianti342 – 3421L → F in LQT1. 1 Publication
VAR_001540
Natural varianti343 – 3431P → L in LQT1. 2 Publications
VAR_074986
Natural varianti343 – 3431P → R in LQT1; unknown pathological significance. 1 Publication
VAR_074987
Natural varianti343 – 3431P → S in LQT1. 1 Publication
VAR_068309
Natural varianti344 – 3441A → E in LQT1. 1 Publication
VAR_068310
Natural varianti344 – 3441A → V in LQT1. 2 Publications
VAR_001541
Natural varianti345 – 3451G → E in LQT1. 1 Publication
VAR_001542
Natural varianti345 – 3451G → R in LQT1; familial sudden death. 1 Publication
VAR_008126
Natural varianti349 – 3491S → P in LQT1; unknown pathological significance. 1 Publication
VAR_074988
Natural varianti349 – 3491S → W in LQT1. 1 Publication
VAR_009928
Natural varianti350 – 3501G → R in LQT1. 2 Publications
VAR_074989
Natural varianti351 – 3511F → S in LQT1. 2 Publications
VAR_074990
Natural varianti353 – 3531L → P in LQT1. 2 Publications
VAR_009180
Natural varianti354 – 3541K → R in LQT1; unknown pathological significance. 1 Publication
VAR_074991
Natural varianti360 – 3601R → M in LQT1; unknown pathological significance. 1 Publication
VAR_074992
Natural varianti360 – 3601R → T in LQT1; unknown pathological significance. 1 Publication
VAR_074993
Natural varianti362 – 3621K → R in LQT1. 2 Publications
Corresponds to variant rs12720458 [ dbSNP | Ensembl ].
VAR_048025
Natural varianti365 – 3651N → H in LQT1; unknown pathological significance. 1 Publication
VAR_074994
Natural varianti366 – 3661R → P in LQT1. 1 Publication
VAR_001543
Natural varianti366 – 3661R → Q in LQT1. 1 Publication
VAR_009929
Natural varianti366 – 3661R → W in LQT1. 3 Publications
VAR_008948
Natural varianti371 – 3711A → T in LQT1.
VAR_001544
Natural varianti372 – 3721A → D in LQT1; unknown pathological significance. 1 Publication
VAR_074995
Natural varianti373 – 3731S → P in LQT1. 1 Publication
VAR_008127
Natural varianti374 – 3741L → H in LQT1. 2 Publications
VAR_068311