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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
  • sodium channel regulator activity 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

  • atrial cardiac muscle cell action potential Source: BHF-UCL
  • 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 atrial cardiac muscle cell 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...

Keywordsi

Molecular functionCalmodulin-binding, Ion channel, Sodium channel, Voltage-gated channel
Biological processIon transport, Sodium transport, Transport
LigandSodium

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

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. Corresponds to variant dbSNP:rs1994730623 PublicationsEnsembl.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994730723 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs1378546082 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs1994731181 PublicationEnsembl.1
Natural variantiVAR_017673514G → C in BRGDA1 and PFHB1A. Corresponds to variant dbSNP:rs1378546062 PublicationsEnsembl.1
Natural variantiVAR_026361752G → R in BRGDA1 and PFHB1A. Corresponds to variant dbSNP:rs1994731533 PublicationsEnsembl.1
Natural variantiVAR_0176791232R → W in BRGDA1 and PFHB1A. Corresponds to variant dbSNP:rs1994732073 PublicationsEnsembl.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. Corresponds to variant dbSNP:rs1378546184 PublicationsEnsembl.1
Natural variantiVAR_0176831595D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. Corresponds to variant dbSNP:rs1378546071 PublicationEnsembl.1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant dbSNP:rs199473282Ensembl.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. Corresponds to variant dbSNP:rs1994730431 PublicationEnsembl.1
Natural variantiVAR_07431218R → Q in BRGDA1 and LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs413110872 PublicationsEnsembl.1
Natural variantiVAR_02634127R → H in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994730452 PublicationsEnsembl.1
Natural variantiVAR_07469530E → G in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735511 PublicationEnsembl.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. Corresponds to variant dbSNP:rs1994730472 PublicationsEnsembl.1
Natural variantiVAR_07469648E → K in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730481 PublicationEnsembl.1
Natural variantiVAR_07469752P → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735531 PublicationEnsembl.1
Natural variantiVAR_07469853R → Q in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730491 PublicationEnsembl.1
Natural variantiVAR_074699104R → G in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730551 PublicationEnsembl.1
Natural variantiVAR_074700115S → G in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730571 PublicationEnsembl.1
Natural variantiVAR_068326125V → L in LQT3. Corresponds to variant dbSNP:rs1994730592 PublicationsEnsembl.1
Natural variantiVAR_055162212L → P in LQT3. Corresponds to variant dbSNP:rs1994730701 PublicationEnsembl.1
Natural variantiVAR_074332222R → Q in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs455460392 PublicationsEnsembl.1
Natural variantiVAR_036661225R → Q in LQT3. Corresponds to variant dbSNP:rs1994730711 PublicationEnsembl.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994730723 PublicationsEnsembl.1
Natural variantiVAR_074334240V → M in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994730762 PublicationsEnsembl.1
Natural variantiVAR_068327245Q → K in LQT3. Corresponds to variant dbSNP:rs1994730771 PublicationEnsembl.1
Natural variantiVAR_074701247V → L in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730781 PublicationEnsembl.1
Natural variantiVAR_074702275N → K in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730801 PublicationEnsembl.1
Natural variantiVAR_074703289G → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730841 PublicationEnsembl.1
Natural variantiVAR_074704340R → W in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730941 PublicationEnsembl.1
Natural variantiVAR_026353367R → C in BRGDA1 and LQT3; express no current. Corresponds to variant dbSNP:rs289373184 PublicationsEnsembl.1
Natural variantiVAR_074705370T → M in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994730991 PublicationEnsembl.1
Natural variantiVAR_074706397I → T in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731051 PublicationEnsembl.1
Natural variantiVAR_068328404L → Q in LQT3. Corresponds to variant dbSNP:rs1994731071 PublicationEnsembl.1
Natural variantiVAR_055170406N → K in LQT3. Corresponds to variant dbSNP:rs1994731082 PublicationsEnsembl.1
Natural variantiVAR_074707409L → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731091 PublicationEnsembl.1
Natural variantiVAR_068329411V → M in LQT3. Corresponds to variant dbSNP:rs725494102 PublicationsEnsembl.1
Natural variantiVAR_074708413A → E in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735691 PublicationEnsembl.1
Natural variantiVAR_074709413A → T in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731101 PublicationEnsembl.1
Natural variantiVAR_074710429Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_074711462E → A in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731141 PublicationEnsembl.1
Natural variantiVAR_068330462E → K in LQT3. Corresponds to variant dbSNP:rs1994735721 PublicationEnsembl.1
Natural variantiVAR_074712530F → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731201 PublicationEnsembl.1
Natural variantiVAR_074713535R → Q in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731211 PublicationEnsembl.1
Natural variantiVAR_074714569R → W in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735761 PublicationEnsembl.1
Natural variantiVAR_074715571S → I in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731261 PublicationEnsembl.1
Natural variantiVAR_055178572A → D in LQT3 and ATFB10. Corresponds to variant dbSNP:rs362104232 PublicationsEnsembl.1
Natural variantiVAR_074716572A → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1844424911 PublicationEnsembl.1
Natural variantiVAR_074717572A → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs362104231 PublicationEnsembl.1
Natural variantiVAR_074718573Q → E in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731271 PublicationEnsembl.1
Natural variantiVAR_074361579G → R in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731282 PublicationsEnsembl.1
Natural variantiVAR_055179586 – 587Missing in LQT3; unknown pathological significance. 1 Publication2
Natural variantiVAR_026358615G → E in LQT3 and BRGDA1; drug-induced LQT syndrome. Corresponds to variant dbSNP:rs127204524 PublicationsEnsembl.1
Natural variantiVAR_015682619L → F in LQT3 and BRGDA1. Corresponds to variant dbSNP:rs1994731333 PublicationsEnsembl.1
Natural variantiVAR_068331637P → L in LQT3. Corresponds to variant dbSNP:rs1994731351 PublicationEnsembl.1
Natural variantiVAR_036664639G → R in LQT3. Corresponds to variant dbSNP:rs1994731362 PublicationsEnsembl.1
Natural variantiVAR_068332648P → L in LQT3 and BRGDA1. Corresponds to variant dbSNP:rs456097332 PublicationsEnsembl.1
Natural variantiVAR_074719654E → K in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731381 PublicationEnsembl.1
Natural variantiVAR_074720673L → P in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731411 PublicationEnsembl.1
Natural variantiVAR_055181680R → H in LQT3. Corresponds to variant dbSNP:rs199473142Ensembl.1
Natural variantiVAR_074721689R → C in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735801 PublicationEnsembl.1
Natural variantiVAR_074374689R → H in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731452 PublicationsEnsembl.1
Natural variantiVAR_074376701P → L in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994731472 PublicationsEnsembl.1
Natural variantiVAR_074722731T → I in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731501 PublicationEnsembl.1
Natural variantiVAR_074723750Q → R in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731521 PublicationEnsembl.1
Natural variantiVAR_074382772D → N in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994731572 PublicationsEnsembl.1
Natural variantiVAR_074724816F → Y in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731621 PublicationEnsembl.1
Natural variantiVAR_074725848I → F in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731661 PublicationEnsembl.1
Natural variantiVAR_017675941S → N in LQT3; also in SIDS. Corresponds to variant dbSNP:rs1378546051 PublicationEnsembl.1
Natural variantiVAR_074726960Q → K in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735901 PublicationEnsembl.1
Natural variantiVAR_074727965R → L in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731811 PublicationEnsembl.1
Natural variantiVAR_068333971R → C in LQT3. Corresponds to variant dbSNP:rs617378251 PublicationEnsembl.1
Natural variantiVAR_074728981C → F in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735911 PublicationEnsembl.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. Corresponds to variant dbSNP:rs1378546093 PublicationsEnsembl.1
Natural variantiVAR_0747291004C → R in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731831 PublicationEnsembl.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. Corresponds to variant dbSNP:rs1378546175 PublicationsEnsembl.1
Natural variantiVAR_0683341069T → M in LQT3. Corresponds to variant dbSNP:rs1994731872 PublicationsEnsembl.1
Natural variantiVAR_0747301100A → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994731921 PublicationEnsembl.1
Natural variantiVAR_0099351114D → N in LQT3. Corresponds to variant dbSNP:rs1994731952 PublicationsEnsembl.1
Natural variantiVAR_0747311166D → N in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994735941 PublicationEnsembl.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. Corresponds to variant dbSNP:rs412613443 PublicationsEnsembl.1
Natural variantiVAR_0747321199Y → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732021 PublicationEnsembl.1
Natural variantiVAR_0747331212Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_0263691225E → K in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994732043 PublicationsEnsembl.1
Natural variantiVAR_0683351231E → K in LQT3. Corresponds to variant dbSNP:rs1994735981 PublicationEnsembl.1
Natural variantiVAR_0263721250F → L in LQT3; drug-induced LQT syndrome. Corresponds to variant dbSNP:rs455897411 PublicationEnsembl.1
Natural variantiVAR_0747341283L → M in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732161 PublicationEnsembl.1
Natural variantiVAR_0551871295E → K in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation. Corresponds to variant dbSNP:rs1994732181 PublicationEnsembl.1
Natural variantiVAR_0089561304T → M in LQT3. Corresponds to variant dbSNP:rs1994736032 PublicationsEnsembl.1
Natural variantiVAR_0015771325N → S in LQT3. Corresponds to variant dbSNP:rs289373172 PublicationsEnsembl.1
Natural variantiVAR_0747351326A → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732221 PublicationEnsembl.1
Natural variantiVAR_0551891330A → P in LQT3. Corresponds to variant dbSNP:rs199473224Ensembl.1
Natural variantiVAR_0551901330A → T in LQT3. Corresponds to variant dbSNP:rs199473224Ensembl.1
Natural variantiVAR_0551911332P → L in LQT3 and BRGDA1; unknown pathological significance. Corresponds to variant dbSNP:rs1994732251 PublicationEnsembl.1
Natural variantiVAR_0366661333S → Y in LQT3 and SIDS. Corresponds to variant dbSNP:rs1994736042 PublicationsEnsembl.1
Natural variantiVAR_0747361334I → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732261 PublicationEnsembl.1
Natural variantiVAR_0747371338L → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732271 PublicationEnsembl.1
Natural variantiVAR_0744411432R → S in BRGDA1 and LQT3. Corresponds to variant dbSNP:rs1994732462 PublicationsEnsembl.1
Natural variantiVAR_0683361458S → Y in LQT3. Corresponds to variant dbSNP:rs1994732531 PublicationEnsembl.1
Natural variantiVAR_0747381472N → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732551 PublicationEnsembl.1
Natural variantiVAR_0551941473F → C in LQT3. Corresponds to variant dbSNP:rs1994732562 PublicationsEnsembl.1
Natural variantiVAR_0683371481G → E in LQT3. Corresponds to variant dbSNP:rs1994732572 PublicationsEnsembl.1
Natural variantiVAR_0551951486F → L in LQT3. Corresponds to variant dbSNP:rs199473615Ensembl.1
Natural variantiVAR_0747391487M → L in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732581 PublicationEnsembl.1
Natural variantiVAR_0747401488T → R in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732591 PublicationEnsembl.1
Natural variantiVAR_0747411489E → D in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994736161 PublicationEnsembl.1
Natural variantiVAR_0747421493K → R in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732601 PublicationEnsembl.1
Natural variantiVAR_0747431495Y → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732621 PublicationEnsembl.1
Natural variantiVAR_0747451498M → V in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732641 PublicationEnsembl.1
Natural variantiVAR_0099361501L → V in LQT3 and BRGDA1. Corresponds to variant dbSNP:rs1994732663 PublicationsEnsembl.1
Natural variantiVAR_0015761505 – 1507Missing in LQT3. 2 Publications3
Natural variantiVAR_0747461505K → N in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732681 PublicationEnsembl.1
Natural variantiVAR_0551971507 – 1509Missing in LQT3. 3
Natural variantiVAR_0747471532V → I in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994736181 PublicationEnsembl.1
Natural variantiVAR_0747481560L → F in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994736191 PublicationEnsembl.1
Natural variantiVAR_0747491593I → M in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732761 PublicationEnsembl.1
Natural variantiVAR_0747501594F → S in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732771 PublicationEnsembl.1
Natural variantiVAR_0176831595D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. Corresponds to variant dbSNP:rs1378546071 PublicationEnsembl.1
Natural variantiVAR_0747511596F → I in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732781 PublicationEnsembl.1
Natural variantiVAR_0366671609S → W in LQT3. Corresponds to variant dbSNP:rs1994736221 PublicationEnsembl.1
Natural variantiVAR_0552001617Missing in LQT3 and BRGDA1. 2 Publications1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant dbSNP:rs199473282Ensembl.1
Natural variantiVAR_0099371623R → L in LQT3. Corresponds to variant dbSNP:rs1378546003 PublicationsEnsembl.1
Natural variantiVAR_0015781623R → Q in LQT3 and BRGDA1. Corresponds to variant dbSNP:rs1378546004 PublicationsEnsembl.1
Natural variantiVAR_0747521626R → H in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732831 PublicationEnsembl.1
Natural variantiVAR_0552021626R → P in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732831 PublicationEnsembl.1
Natural variantiVAR_0552031644R → C in LQT3 and BRGDA1. Corresponds to variant dbSNP:rs1994732872 PublicationsEnsembl.1
Natural variantiVAR_0015791644R → H in LQT3. Corresponds to variant dbSNP:rs289373162 PublicationsEnsembl.1
Natural variantiVAR_0089581645T → M in LQT3. Corresponds to variant dbSNP:rs1994732881 PublicationEnsembl.1
Natural variantiVAR_0747531650L → F in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732901 PublicationEnsembl.1
Natural variantiVAR_0552051652M → R in LQT3. Corresponds to variant dbSNP:rs199473291Ensembl.1
Natural variantiVAR_0747541652M → T in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994732911 PublicationEnsembl.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. Corresponds to variant dbSNP:rs1994736253 PublicationsEnsembl.1
Natural variantiVAR_0683381667V → I in LQT3 and BRGDA1. Corresponds to variant dbSNP:rs1994732932 PublicationsEnsembl.1
Natural variantiVAR_0747551723T → N in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994733001 PublicationEnsembl.1
Natural variantiVAR_0747561739R → W in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994733031 PublicationEnsembl.1
Natural variantiVAR_0747571761L → F in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994733071 PublicationEnsembl.1
Natural variantiVAR_0747581761L → H in LQT3; unknown pathological significance. Corresponds to variant dbSNP:rs1994733081 PublicationEnsembl.1
Natural variantiVAR_0552091763V → M in LQT3. Corresponds to variant dbSNP:rs1994736312 Publications