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Protein

Sodium channel protein type 5 subunit alpha

Gene

SCN5A

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

Functioni

This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na+ channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels.7 Publications

GO - Molecular functioni

  • ankyrin binding Source: BHF-UCL
  • calmodulin binding Source: BHF-UCL
  • enzyme binding Source: BHF-UCL
  • fibroblast growth factor binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • nitric-oxide synthase binding Source: BHF-UCL
  • protein domain specific binding Source: UniProtKB
  • protein kinase binding Source: BHF-UCL
  • scaffold protein binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
  • voltage-gated sodium channel activity Source: UniProtKB
  • voltage-gated sodium channel activity involved in AV node cell action potential Source: BHF-UCL
  • voltage-gated sodium channel activity involved in bundle of His cell action potential Source: BHF-UCL
  • voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL
  • voltage-gated sodium channel activity involved in Purkinje myocyte action potential Source: BHF-UCL
  • voltage-gated sodium channel activity involved in SA node cell action potential Source: BHF-UCL

GO - Biological processi

  • AV node cell action potential Source: BHF-UCL
  • AV node cell to bundle of His cell communication Source: BHF-UCL
  • brainstem development Source: BHF-UCL
  • bundle of His cell action potential Source: BHF-UCL
  • cardiac conduction Source: Reactome
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cardiac muscle contraction Source: BHF-UCL
  • cardiac ventricle development Source: BHF-UCL
  • cellular response to calcium ion Source: UniProtKB
  • cerebellum development Source: BHF-UCL
  • membrane depolarization Source: BHF-UCL
  • membrane depolarization during action potential Source: BHF-UCL
  • membrane depolarization during AV node cell action potential Source: BHF-UCL
  • membrane depolarization during bundle of His cell action potential Source: BHF-UCL
  • membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane depolarization during Purkinje myocyte cell action potential Source: BHF-UCL
  • membrane depolarization during SA node cell action potential Source: BHF-UCL
  • neuronal action potential Source: GO_Central
  • odontogenesis of dentin-containing tooth Source: BHF-UCL
  • positive regulation of action potential Source: BHF-UCL
  • positive regulation of epithelial cell proliferation Source: BHF-UCL
  • positive regulation of sodium ion transport Source: BHF-UCL
  • regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
  • regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
  • regulation of cardiac muscle cell contraction Source: BHF-UCL
  • regulation of heart rate Source: UniProtKB
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of sodium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • response to denervation involved in regulation of muscle adaptation Source: BHF-UCL
  • SA node cell action potential Source: BHF-UCL
  • sodium ion transmembrane transport Source: UniProtKB
  • sodium ion transport Source: UniProtKB
  • telencephalon development Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Calmodulin-binding, Sodium

Enzyme and pathway databases

BioCyciZFISH:G66-32583-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.
SIGNORiQ14524.

Protein family/group databases

TCDBi1.A.1.10.3. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 5 subunit alpha
Alternative name(s):
HH1
Sodium channel protein cardiac muscle subunit alpha
Sodium channel protein type V subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.5
Gene namesi
Name:SCN5A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:10593. SCN5A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 126CytoplasmicSequence analysisAdd BLAST126
Transmembranei127 – 150Helical; Name=S1 of repeat ISequence analysisAdd BLAST24
Topological domaini151 – 158ExtracellularSequence analysis8
Transmembranei159 – 178Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini179 – 191CytoplasmicSequence analysisAdd BLAST13
Transmembranei192 – 210Helical; Name=S3 of repeat ISequence analysisAdd BLAST19
Topological domaini211 – 216ExtracellularSequence analysis6
Transmembranei217 – 236Helical; Voltage-sensor; Name=S4 of repeat ISequence analysisAdd BLAST20
Topological domaini237 – 252CytoplasmicSequence analysisAdd BLAST16
Transmembranei253 – 276Helical; Name=S5 of repeat ISequence analysisAdd BLAST24
Topological domaini277 – 389ExtracellularSequence analysisAdd BLAST113
Transmembranei390 – 415Helical; Name=S6 of repeat ISequence analysisAdd BLAST26
Topological domaini416 – 711CytoplasmicSequence analysisAdd BLAST296
Transmembranei712 – 736Helical; Name=S1 of repeat IISequence analysisAdd BLAST25
Topological domaini737 – 747ExtracellularSequence analysisAdd BLAST11
Transmembranei748 – 771Helical; Name=S2 of repeat IISequence analysisAdd BLAST24
Topological domaini772 – 779CytoplasmicSequence analysis8
Transmembranei780 – 799Helical; Name=S3 of repeat IISequence analysisAdd BLAST20
Topological domaini800 – 805ExtracellularSequence analysis6
Transmembranei806 – 825Helical; Voltage-sensor; Name=S4 of repeat IISequence analysisAdd BLAST20
Topological domaini826 – 841CytoplasmicSequence analysisAdd BLAST16
Transmembranei842 – 862Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini863 – 913ExtracellularSequence analysisAdd BLAST51
Transmembranei914 – 939Helical; Name=S6 of repeat IISequence analysisAdd BLAST26
Topological domaini940 – 1200CytoplasmicSequence analysisAdd BLAST261
Transmembranei1201 – 1224Helical; Name=S1 of repeat IIISequence analysisAdd BLAST24
Topological domaini1225 – 1237ExtracellularSequence analysisAdd BLAST13
Transmembranei1238 – 1263Helical; Name=S2 of repeat IIISequence analysisAdd BLAST26
Topological domaini1264 – 1269CytoplasmicSequence analysis6
Transmembranei1270 – 1291Helical; Name=S3 of repeat IIISequence analysisAdd BLAST22
Topological domaini1292 – 1295ExtracellularSequence analysis4
Transmembranei1296 – 1317Helical; Voltage-sensor; Name=S4 of repeat IIISequence analysisAdd BLAST22
Topological domaini1318 – 1336CytoplasmicSequence analysisAdd BLAST19
Transmembranei1337 – 1359Helical; Name=S5 of repeat IIISequence analysisAdd BLAST23
Topological domaini1360 – 1443ExtracellularSequence analysisAdd BLAST84
Transmembranei1444 – 1470Helical; Name=S6 of repeat IIISequence analysisAdd BLAST27
Topological domaini1471 – 1523CytoplasmicSequence analysisAdd BLAST53
Transmembranei1524 – 1547Helical; Name=S1 of repeat IVSequence analysisAdd BLAST24
Topological domaini1548 – 1558ExtracellularSequence analysisAdd BLAST11
Transmembranei1559 – 1582Helical; Name=S2 of repeat IVSequence analysisAdd BLAST24
Topological domaini1583 – 1588CytoplasmicSequence analysis6
Transmembranei1589 – 1612Helical; Name=S3 of repeat IVSequence analysisAdd BLAST24
Topological domaini1613 – 1622ExtracellularSequence analysis10
Transmembranei1623 – 1644Helical; Voltage-sensor; Name=S4 of repeat IVSequence analysisAdd BLAST22
Topological domaini1645 – 1659CytoplasmicSequence analysisAdd BLAST15
Transmembranei1660 – 1682Helical; Name=S5 of repeat IVSequence analysisAdd BLAST23
Topological domaini1683 – 1747ExtracellularSequence analysisAdd BLAST65
Transmembranei1748 – 1772Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1773 – 2016CytoplasmicSequence analysisAdd BLAST244

GO - Cellular componenti

  • caveola Source: BHF-UCL
  • cell surface Source: UniProtKB
  • endoplasmic reticulum Source: BHF-UCL
  • integral component of membrane Source: UniProtKB
  • intercalated disc Source: BHF-UCL
  • intracellular Source: UniProtKB
  • lateral plasma membrane Source: BHF-UCL
  • plasma membrane Source: UniProtKB
  • sarcolemma Source: BHF-UCL
  • T-tubule Source: BHF-UCL
  • voltage-gated sodium channel complex Source: BHF-UCL
  • Z disc Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Progressive familial heart block 1A (PFHB1A)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
See also OMIM:113900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026344161E → K in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant rs199473062dbSNPEnsembl.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. 3 PublicationsCorresponds to variant rs199473072dbSNPEnsembl.1
Natural variantiVAR_017671298G → S in PFHB1A; also in irritable bowel syndrome; results in reduction of whole cell current density and a delay in channel activation kinetics without a change in single-channel conductance. 2 PublicationsCorresponds to variant rs137854608dbSNPEnsembl.1
Natural variantiVAR_036662512T → I in PFHB1A; voltage-dependent activation and inactivation of the I-512 channel is shifted negatively by 8 to 9 mV and had enhanced slow activation and slower recovery from inactivation commpared to the wild-type channel; the double mutant R-558/I-512 channel shows that R-558 eliminates the negative shift induced by I-512 but only partially restores the kinetic abnormalities. 1 PublicationCorresponds to variant rs199473118dbSNPEnsembl.1
Natural variantiVAR_017673514G → C in BRGDA1 and PFHB1A. 2 PublicationsCorresponds to variant rs137854606dbSNPEnsembl.1
Natural variantiVAR_026361752G → R in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant rs199473153dbSNPEnsembl.1
Natural variantiVAR_0176791232R → W in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant rs199473207dbSNPEnsembl.1
Natural variantiVAR_0263731275D → N in CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with polymorphisms in the regulatory region of GJA5. 4 PublicationsCorresponds to variant rs137854618dbSNPEnsembl.1
Natural variantiVAR_0176831595D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. 1 PublicationCorresponds to variant rs137854607dbSNPEnsembl.1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant rs199473282dbSNPEnsembl.1
Long QT syndrome 3 (LQT3)24 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:603830
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0366609G → V in LQT3. 1 PublicationCorresponds to variant rs199473043dbSNPEnsembl.1
Natural variantiVAR_07431218R → Q in BRGDA1 and LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant rs41311087dbSNPEnsembl.1
Natural variantiVAR_02634127R → H in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant rs199473045dbSNPEnsembl.1
Natural variantiVAR_07469530E → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473551dbSNPEnsembl.1
Natural variantiVAR_05515943R → Q in LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment. 2 PublicationsCorresponds to variant rs199473047dbSNPEnsembl.1
Natural variantiVAR_07469648E → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473048dbSNPEnsembl.1
Natural variantiVAR_07469752P → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473553dbSNPEnsembl.1
Natural variantiVAR_07469853R → Q in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473049dbSNPEnsembl.1
Natural variantiVAR_074699104R → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473055dbSNPEnsembl.1
Natural variantiVAR_074700115S → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473057dbSNPEnsembl.1
Natural variantiVAR_068326125V → L in LQT3. 2 PublicationsCorresponds to variant rs199473059dbSNPEnsembl.1
Natural variantiVAR_055162212L → P in LQT3. 1 PublicationCorresponds to variant rs199473070dbSNPEnsembl.1
Natural variantiVAR_074332222R → Q in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant rs45546039dbSNPEnsembl.1
Natural variantiVAR_036661225R → Q in LQT3. 1 PublicationCorresponds to variant rs199473071dbSNPEnsembl.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. 3 PublicationsCorresponds to variant rs199473072dbSNPEnsembl.1
Natural variantiVAR_074334240V → M in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant rs199473076dbSNPEnsembl.1
Natural variantiVAR_068327245Q → K in LQT3. 1 PublicationCorresponds to variant rs199473077dbSNPEnsembl.1
Natural variantiVAR_074701247V → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473078dbSNPEnsembl.1
Natural variantiVAR_074702275N → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473080dbSNPEnsembl.1
Natural variantiVAR_074703289G → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473084dbSNPEnsembl.1
Natural variantiVAR_074704340R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473094dbSNPEnsembl.1
Natural variantiVAR_026353367R → C in BRGDA1 and LQT3; express no current. 4 PublicationsCorresponds to variant rs28937318dbSNPEnsembl.1
Natural variantiVAR_074705370T → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473099dbSNPEnsembl.1
Natural variantiVAR_074706397I → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473105dbSNPEnsembl.1
Natural variantiVAR_068328404L → Q in LQT3. 1 PublicationCorresponds to variant rs199473107dbSNPEnsembl.1
Natural variantiVAR_055170406N → K in LQT3. 2 PublicationsCorresponds to variant rs199473108dbSNPEnsembl.1
Natural variantiVAR_074707409L → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473109dbSNPEnsembl.1
Natural variantiVAR_068329411V → M in LQT3. 2 PublicationsCorresponds to variant rs72549410dbSNPEnsembl.1
Natural variantiVAR_074708413A → E in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473569dbSNPEnsembl.1
Natural variantiVAR_074709413A → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473110dbSNPEnsembl.1
Natural variantiVAR_074710429Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_074711462E → A in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473114dbSNPEnsembl.1
Natural variantiVAR_068330462E → K in LQT3. 1 PublicationCorresponds to variant rs199473572dbSNPEnsembl.1
Natural variantiVAR_074712530F → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473120dbSNPEnsembl.1
Natural variantiVAR_074713535R → Q in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473121dbSNPEnsembl.1
Natural variantiVAR_074714569R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473576dbSNPEnsembl.1
Natural variantiVAR_074715571S → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473126dbSNPEnsembl.1
Natural variantiVAR_055178572A → D in LQT3 and ATFB10. 2 PublicationsCorresponds to variant rs36210423dbSNPEnsembl.1
Natural variantiVAR_074716572A → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs184442491dbSNPEnsembl.1
Natural variantiVAR_074717572A → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs36210423dbSNPEnsembl.1
Natural variantiVAR_074718573Q → E in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473127dbSNPEnsembl.1
Natural variantiVAR_074361579G → R in LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant rs199473128dbSNPEnsembl.1
Natural variantiVAR_055179586 – 587Missing in LQT3; unknown pathological significance. 1 Publication2
Natural variantiVAR_026358615G → E in LQT3 and BRGDA1; drug-induced LQT syndrome. 4 PublicationsCorresponds to variant rs12720452dbSNPEnsembl.1
Natural variantiVAR_015682619L → F in LQT3 and BRGDA1. 3 PublicationsCorresponds to variant rs199473133dbSNPEnsembl.1
Natural variantiVAR_068331637P → L in LQT3. 1 PublicationCorresponds to variant rs199473135dbSNPEnsembl.1
Natural variantiVAR_036664639G → R in LQT3. 2 PublicationsCorresponds to variant rs199473136dbSNPEnsembl.1
Natural variantiVAR_068332648P → L in LQT3 and BRGDA1. 2 PublicationsCorresponds to variant rs45609733dbSNPEnsembl.1
Natural variantiVAR_074719654E → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473138dbSNPEnsembl.1
Natural variantiVAR_074720673L → P in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473141dbSNPEnsembl.1
Natural variantiVAR_055181680R → H in LQT3. Corresponds to variant rs199473142dbSNPEnsembl.1
Natural variantiVAR_074721689R → C in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473580dbSNPEnsembl.1
Natural variantiVAR_074374689R → H in LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant rs199473145dbSNPEnsembl.1
Natural variantiVAR_074376701P → L in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant rs199473147dbSNPEnsembl.1
Natural variantiVAR_074722731T → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473150dbSNPEnsembl.1
Natural variantiVAR_074723750Q → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473152dbSNPEnsembl.1
Natural variantiVAR_074382772D → N in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant rs199473157dbSNPEnsembl.1
Natural variantiVAR_074724816F → Y in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473162dbSNPEnsembl.1
Natural variantiVAR_074725848I → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473166dbSNPEnsembl.1
Natural variantiVAR_017675941S → N in LQT3; also in SIDS. 1 PublicationCorresponds to variant rs137854605dbSNPEnsembl.1
Natural variantiVAR_074726960Q → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473590dbSNPEnsembl.1
Natural variantiVAR_074727965R → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473181dbSNPEnsembl.1
Natural variantiVAR_068333971R → C in LQT3. 1 PublicationCorresponds to variant rs61737825dbSNPEnsembl.1
Natural variantiVAR_074728981C → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473591dbSNPEnsembl.1
Natural variantiVAR_017676997A → S in LQT3; also found in patients with atrial fibrillation; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current. 3 PublicationsCorresponds to variant rs137854609dbSNPEnsembl.1
Natural variantiVAR_0747291004C → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473183dbSNPEnsembl.1
Natural variantiVAR_0263681053E → K in BRGDA1, ATFB10 and LQT3; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes. 5 PublicationsCorresponds to variant rs137854617dbSNPEnsembl.1
Natural variantiVAR_0683341069T → M in LQT3. 2 PublicationsCorresponds to variant rs199473187dbSNPEnsembl.1
Natural variantiVAR_0747301100A → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473192dbSNPEnsembl.1
Natural variantiVAR_0099351114D → N in LQT3. 2 PublicationsCorresponds to variant rs199473195dbSNPEnsembl.1
Natural variantiVAR_0747311166D → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473594dbSNPEnsembl.1
Natural variantiVAR_0176781193R → Q in BRGDA1 and LQT3; also found in patients with atrial fibrillation; accelerates the inactivation of the sodium channel current and exhibit reduced sodium channel current at the end of phase I of the action potential. 3 PublicationsCorresponds to variant rs41261344dbSNPEnsembl.1
Natural variantiVAR_0747321199Y → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473202dbSNPEnsembl.1
Natural variantiVAR_0747331212Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_0263691225E → K in BRGDA1 and LQT3. 3 PublicationsCorresponds to variant rs199473204dbSNPEnsembl.1
Natural variantiVAR_0683351231E → K in LQT3. 1 PublicationCorresponds to variant rs199473598dbSNPEnsembl.1
Natural variantiVAR_0263721250F → L in LQT3; drug-induced LQT syndrome. 1 PublicationCorresponds to variant rs45589741dbSNPEnsembl.1
Natural variantiVAR_0747341283L → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473216dbSNPEnsembl.1
Natural variantiVAR_0551871295E → K in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation. 1 PublicationCorresponds to variant rs199473218dbSNPEnsembl.1
Natural variantiVAR_0089561304T → M in LQT3. 2 PublicationsCorresponds to variant rs199473603dbSNPEnsembl.1
Natural variantiVAR_0015771325N → S in LQT3. 2 PublicationsCorresponds to variant rs28937317dbSNPEnsembl.1
Natural variantiVAR_0747351326A → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473222dbSNPEnsembl.1
Natural variantiVAR_0551891330A → P in LQT3. Corresponds to variant rs199473224dbSNPEnsembl.1
Natural variantiVAR_0551901330A → T in LQT3. Corresponds to variant rs199473224dbSNPEnsembl.1
Natural variantiVAR_0551911332P → L in LQT3 and BRGDA1; unknown pathological significance. 1 PublicationCorresponds to variant rs199473225dbSNPEnsembl.1
Natural variantiVAR_0366661333S → Y in LQT3 and SIDS. 2 PublicationsCorresponds to variant rs199473604dbSNPEnsembl.1
Natural variantiVAR_0747361334I → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473226dbSNPEnsembl.1
Natural variantiVAR_0747371338L → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473227dbSNPEnsembl.1
Natural variantiVAR_0744411432R → S in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant rs199473246dbSNPEnsembl.1
Natural variantiVAR_0683361458S → Y in LQT3. 1 PublicationCorresponds to variant rs199473253dbSNPEnsembl.1
Natural variantiVAR_0747381472N → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473255dbSNPEnsembl.1
Natural variantiVAR_0551941473F → C in LQT3. 2 PublicationsCorresponds to variant rs199473256dbSNPEnsembl.1
Natural variantiVAR_0683371481G → E in LQT3. 2 PublicationsCorresponds to variant rs199473257dbSNPEnsembl.1
Natural variantiVAR_0551951486F → L in LQT3. Corresponds to variant rs199473615dbSNPEnsembl.1
Natural variantiVAR_0747391487M → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473258dbSNPEnsembl.1
Natural variantiVAR_0747401488T → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473259dbSNPEnsembl.1
Natural variantiVAR_0747411489E → D in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473616dbSNPEnsembl.1
Natural variantiVAR_0747421493K → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473260dbSNPEnsembl.1
Natural variantiVAR_0747431495Y → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473262dbSNPEnsembl.1
Natural variantiVAR_0747451498M → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473264dbSNPEnsembl.1
Natural variantiVAR_0099361501L → V in LQT3 and BRGDA1. 3 PublicationsCorresponds to variant rs199473266dbSNPEnsembl.1
Natural variantiVAR_0015761505 – 1507Missing in LQT3. 2 Publications3
Natural variantiVAR_0747461505K → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473268dbSNPEnsembl.1
Natural variantiVAR_0551971507 – 1509Missing in LQT3. 3
Natural variantiVAR_0747471532V → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473618dbSNPEnsembl.1
Natural variantiVAR_0747481560L → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473619dbSNPEnsembl.1
Natural variantiVAR_0747491593I → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473276dbSNPEnsembl.1
Natural variantiVAR_0747501594F → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473277dbSNPEnsembl.1
Natural variantiVAR_0176831595D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. 1 PublicationCorresponds to variant rs137854607dbSNPEnsembl.1
Natural variantiVAR_0747511596F → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473278dbSNPEnsembl.1
Natural variantiVAR_0366671609S → W in LQT3. 1 PublicationCorresponds to variant rs199473622dbSNPEnsembl.1
Natural variantiVAR_0552001617Missing in LQT3 and BRGDA1. 2 Publications1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant rs199473282dbSNPEnsembl.1
Natural variantiVAR_0099371623R → L in LQT3. 3 PublicationsCorresponds to variant rs137854600dbSNPEnsembl.1
Natural variantiVAR_0015781623R → Q in LQT3 and BRGDA1. 4 PublicationsCorresponds to variant rs137854600dbSNPEnsembl.1
Natural variantiVAR_0747521626R → H in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473283dbSNPEnsembl.1
Natural variantiVAR_0552021626R → P in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473283dbSNPEnsembl.1
Natural variantiVAR_0552031644R → C in LQT3 and BRGDA1. 2 PublicationsCorresponds to variant rs199473287dbSNPEnsembl.1
Natural variantiVAR_0015791644R → H in LQT3. 2 PublicationsCorresponds to variant rs28937316dbSNPEnsembl.1
Natural variantiVAR_0089581645T → M in LQT3. 1 PublicationCorresponds to variant rs199473288dbSNPEnsembl.1
Natural variantiVAR_0747531650L → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473290dbSNPEnsembl.1
Natural variantiVAR_0552051652M → R in LQT3. Corresponds to variant rs199473291dbSNPEnsembl.1
Natural variantiVAR_0747541652M → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473291dbSNPEnsembl.1
Natural variantiVAR_0552061660I → V in BRGDA1 and LQT3; the BRGDA1 patient is a compound heterozygote also carrying L-336; the presence of both mutations is necessary for phenotypic expression of the disease in this patient; complete loss of sodium currents due to defective channel trafficking to the plasma membrane. 3 PublicationsCorresponds to variant rs199473625dbSNPEnsembl.1
Natural variantiVAR_0683381667V → I in LQT3 and BRGDA1. 2 PublicationsCorresponds to variant rs199473293dbSNPEnsembl.1
Natural variantiVAR_0747551723T → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473300dbSNPEnsembl.1
Natural variantiVAR_0747561739R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473303dbSNPEnsembl.1
Natural variantiVAR_0747571761L → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant rs199473307dbSNPEnsembl.1
Natural variantiVAR_0747581761L → H in LQT3; unknown pathological significance. 1 Publication