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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

Miscellaneous

Na+ channels in mammalian cardiac membrane have functional properties quite distinct from Na+ channels in nerve and skeletal muscle.

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

  • 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

Keywordsi

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

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000183873.15.
HGNCiHGNC:10593. SCN5A.

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
Topological domaini1 – 131CytoplasmicCuratedAdd BLAST131
Transmembranei132 – 150Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini151 – 157ExtracellularCurated7
Transmembranei158 – 178Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini179 – 192CytoplasmicCuratedAdd BLAST14
Transmembranei193 – 210Helical; Name=S3 of repeat IBy similarityAdd BLAST18
Topological domaini211 – 216ExtracellularCurated6
Transmembranei217 – 233Helical; Name=S4 of repeat IBy similarityAdd BLAST17
Topological domaini234 – 252CytoplasmicCuratedAdd BLAST19
Transmembranei253 – 272Helical; Name=S5 of repeat IBy similarityAdd BLAST20
Topological domaini273 – 357ExtracellularCuratedAdd BLAST85
Intramembranei358 – 382Pore-formingBy similarityAdd BLAST25
Topological domaini383 – 389ExtracellularCurated7
Transmembranei390 – 410Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini411 – 717CytoplasmicCuratedAdd BLAST307
Transmembranei718 – 736Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini737 – 747ExtracellularCuratedAdd BLAST11
Transmembranei748 – 767Helical; Name=S2 of repeat IIBy similarityAdd BLAST20
Topological domaini768 – 781CytoplasmicCuratedAdd BLAST14
Transmembranei782 – 801Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini802 – 803ExtracellularCurated2
Transmembranei804 – 821Helical; Name=S4 of repeat IIBy similarityAdd BLAST18
Topological domaini822 – 837CytoplasmicCuratedAdd BLAST16
Transmembranei838 – 856Helical; Name=S5 of repeat IIBy similarityAdd BLAST19
Topological domaini857 – 883ExtracellularCuratedAdd BLAST27
Intramembranei884 – 904Pore-formingBy similarityAdd BLAST21
Topological domaini905 – 917ExtracellularCuratedAdd BLAST13
Transmembranei918 – 938Helical; Name=S6 of repeat IIBy similarityAdd BLAST21
Topological domaini939 – 1206CytoplasmicCuratedAdd BLAST268
Transmembranei1207 – 1224Helical; Name=S1 of repeat IIIBy similarityAdd BLAST18
Topological domaini1225 – 1237ExtracellularCuratedAdd BLAST13
Transmembranei1238 – 1256Helical; Name=S2 of repeat IIIBy similarityAdd BLAST19
Topological domaini1257 – 1270CytoplasmicCuratedAdd BLAST14
Transmembranei1271 – 1289Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini1290 – 1297ExtracellularCurated8
Transmembranei1298 – 1316Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1317 – 1333CytoplasmicCuratedAdd BLAST17
Transmembranei1334 – 1353Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini1354 – 1405ExtracellularCuratedAdd BLAST52
Intramembranei1406 – 1427Pore-formingBy similarityAdd BLAST22
Topological domaini1428 – 1444ExtracellularCuratedAdd BLAST17
Transmembranei1445 – 1466Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1467 – 1529CytoplasmicCuratedAdd BLAST63
Transmembranei1530 – 1547Helical; Name=S1 of repeat IVBy similarityAdd BLAST18
Topological domaini1548 – 1558ExtracellularCuratedAdd BLAST11
Transmembranei1559 – 1577Helical; Name=S2 of repeat IVBy similarityAdd BLAST19
Topological domaini1578 – 1589CytoplasmicCuratedAdd BLAST12
Transmembranei1590 – 1607Helical; Name=S3 of repeat IVBy similarityAdd BLAST18
Topological domaini1608 – 1620ExtracellularCuratedAdd BLAST13
Transmembranei1621 – 1637Helical; Name=S4 of repeat IVBy similarityAdd BLAST17
Topological domaini1638 – 1656CytoplasmicCuratedAdd BLAST19
Transmembranei1657 – 1674Helical; Name=S5 of repeat IVBy similarityAdd BLAST18
Topological domaini1675 – 1696ExtracellularCuratedAdd BLAST22
Intramembranei1697 – 1719Pore-formingBy similarityAdd BLAST23
Topological domaini1720 – 1748ExtracellularCuratedAdd BLAST29
Transmembranei1749 – 1771Helical; Name=S6 of repeat IVBy similarityAdd BLAST23
Topological domaini1772 – 2016CytoplasmicCuratedAdd BLAST245

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Progressive familial heart block 1A (PFHB1A)5 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 dbSNP:rs199473062Ensembl.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. 3 PublicationsCorresponds to variant dbSNP:rs199473072Ensembl.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 dbSNP:rs137854608Ensembl.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 dbSNP:rs199473118Ensembl.1
Natural variantiVAR_017673514G → C in BRGDA1 and PFHB1A. 2 PublicationsCorresponds to variant dbSNP:rs137854606Ensembl.1
Natural variantiVAR_026361752G → R in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant dbSNP:rs199473153Ensembl.1
Natural variantiVAR_0176791232R → W in BRGDA1 and PFHB1A. 3 PublicationsCorresponds to variant dbSNP:rs199473207Ensembl.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 dbSNP:rs137854618Ensembl.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 dbSNP:rs137854607Ensembl.1
Natural variantiVAR_0552011620T → K in LQT3 and PFHB1A. Corresponds to variant dbSNP:rs199473282Ensembl.1
Long QT syndrome 3 (LQT3)30 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 dbSNP:rs199473043Ensembl.1
Natural variantiVAR_07431218R → Q in BRGDA1 and LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs41311087Ensembl.1
Natural variantiVAR_02634127R → H in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473045Ensembl.1
Natural variantiVAR_07469530E → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473551Ensembl.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 dbSNP:rs199473047Ensembl.1
Natural variantiVAR_07469648E → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473048Ensembl.1
Natural variantiVAR_07469752P → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473553Ensembl.1
Natural variantiVAR_07469853R → Q in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473049Ensembl.1
Natural variantiVAR_074699104R → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473055Ensembl.1
Natural variantiVAR_074700115S → G in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473057Ensembl.1
Natural variantiVAR_068326125V → L in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473059Ensembl.1
Natural variantiVAR_055162212L → P in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473070Ensembl.1
Natural variantiVAR_074332222R → Q in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs45546039Ensembl.1
Natural variantiVAR_036661225R → Q in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473071Ensembl.1
Natural variantiVAR_055164225R → W in PFHB1A, BRGDA1 and LQT3. 3 PublicationsCorresponds to variant dbSNP:rs199473072Ensembl.1
Natural variantiVAR_074334240V → M in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473076Ensembl.1
Natural variantiVAR_068327245Q → K in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473077Ensembl.1
Natural variantiVAR_074701247V → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473078Ensembl.1
Natural variantiVAR_074702275N → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473080Ensembl.1
Natural variantiVAR_074703289G → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473084Ensembl.1
Natural variantiVAR_074704340R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473094Ensembl.1
Natural variantiVAR_026353367R → C in BRGDA1 and LQT3; express no current. 4 PublicationsCorresponds to variant dbSNP:rs28937318Ensembl.1
Natural variantiVAR_074705370T → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473099Ensembl.1
Natural variantiVAR_074706397I → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473105Ensembl.1
Natural variantiVAR_068328404L → Q in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473107Ensembl.1
Natural variantiVAR_055170406N → K in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473108Ensembl.1
Natural variantiVAR_074707409L → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473109Ensembl.1
Natural variantiVAR_068329411V → M in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs72549410Ensembl.1
Natural variantiVAR_074708413A → E in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473569Ensembl.1
Natural variantiVAR_074709413A → T in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473110Ensembl.1
Natural variantiVAR_074710429Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_074711462E → A in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473114Ensembl.1
Natural variantiVAR_068330462E → K in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473572Ensembl.1
Natural variantiVAR_074712530F → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473120Ensembl.1
Natural variantiVAR_074713535R → Q in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473121Ensembl.1
Natural variantiVAR_074714569R → W in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473576Ensembl.1
Natural variantiVAR_074715571S → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473126Ensembl.1
Natural variantiVAR_055178572A → D in LQT3 and ATFB10. 2 PublicationsCorresponds to variant dbSNP:rs36210423Ensembl.1
Natural variantiVAR_074716572A → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs184442491Ensembl.1
Natural variantiVAR_074717572A → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs36210423Ensembl.1
Natural variantiVAR_074718573Q → E in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473127Ensembl.1
Natural variantiVAR_074361579G → R in LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs199473128Ensembl.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 dbSNP:rs12720452Ensembl.1
Natural variantiVAR_015682619L → F in LQT3 and BRGDA1. 3 PublicationsCorresponds to variant dbSNP:rs199473133Ensembl.1
Natural variantiVAR_068331637P → L in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473135Ensembl.1
Natural variantiVAR_036664639G → R in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473136Ensembl.1
Natural variantiVAR_068332648P → L in LQT3 and BRGDA1. 2 PublicationsCorresponds to variant dbSNP:rs45609733Ensembl.1
Natural variantiVAR_074719654E → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473138Ensembl.1
Natural variantiVAR_074720673L → P in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473141Ensembl.1
Natural variantiVAR_055181680R → H in LQT3. Corresponds to variant dbSNP:rs199473142Ensembl.1
Natural variantiVAR_074721689R → C in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473580Ensembl.1
Natural variantiVAR_074374689R → H in LQT3; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs199473145Ensembl.1
Natural variantiVAR_074376701P → L in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473147Ensembl.1
Natural variantiVAR_074722731T → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473150Ensembl.1
Natural variantiVAR_074723750Q → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473152Ensembl.1
Natural variantiVAR_074382772D → N in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473157Ensembl.1
Natural variantiVAR_074724816F → Y in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473162Ensembl.1
Natural variantiVAR_074725848I → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473166Ensembl.1
Natural variantiVAR_017675941S → N in LQT3; also in SIDS. 1 PublicationCorresponds to variant dbSNP:rs137854605Ensembl.1
Natural variantiVAR_074726960Q → K in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473590Ensembl.1
Natural variantiVAR_074727965R → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473181Ensembl.1
Natural variantiVAR_068333971R → C in LQT3. 1 PublicationCorresponds to variant dbSNP:rs61737825Ensembl.1
Natural variantiVAR_074728981C → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473591Ensembl.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 dbSNP:rs137854609Ensembl.1
Natural variantiVAR_0747291004C → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473183Ensembl.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 dbSNP:rs137854617Ensembl.1
Natural variantiVAR_0683341069T → M in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473187Ensembl.1
Natural variantiVAR_0747301100A → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473192Ensembl.1
Natural variantiVAR_0099351114D → N in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473195Ensembl.1
Natural variantiVAR_0747311166D → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473594Ensembl.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 dbSNP:rs41261344Ensembl.1
Natural variantiVAR_0747321199Y → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473202Ensembl.1
Natural variantiVAR_0747331212Missing in LQT3; unknown pathological significance. 1 Publication1
Natural variantiVAR_0263691225E → K in BRGDA1 and LQT3. 3 PublicationsCorresponds to variant dbSNP:rs199473204Ensembl.1
Natural variantiVAR_0683351231E → K in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473598Ensembl.1
Natural variantiVAR_0263721250F → L in LQT3; drug-induced LQT syndrome. 1 PublicationCorresponds to variant dbSNP:rs45589741Ensembl.1
Natural variantiVAR_0747341283L → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473216Ensembl.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 dbSNP:rs199473218Ensembl.1
Natural variantiVAR_0089561304T → M in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473603Ensembl.1
Natural variantiVAR_0015771325N → S in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs28937317Ensembl.1
Natural variantiVAR_0747351326A → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473222Ensembl.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. 1 PublicationCorresponds to variant dbSNP:rs199473225Ensembl.1
Natural variantiVAR_0366661333S → Y in LQT3 and SIDS. 2 PublicationsCorresponds to variant dbSNP:rs199473604Ensembl.1
Natural variantiVAR_0747361334I → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473226Ensembl.1
Natural variantiVAR_0747371338L → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473227Ensembl.1
Natural variantiVAR_0744411432R → S in BRGDA1 and LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473246Ensembl.1
Natural variantiVAR_0683361458S → Y in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473253Ensembl.1
Natural variantiVAR_0747381472N → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473255Ensembl.1
Natural variantiVAR_0551941473F → C in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473256Ensembl.1
Natural variantiVAR_0683371481G → E in LQT3. 2 PublicationsCorresponds to variant dbSNP:rs199473257Ensembl.1
Natural variantiVAR_0551951486F → L in LQT3. Corresponds to variant dbSNP:rs199473615Ensembl.1
Natural variantiVAR_0747391487M → L in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473258Ensembl.1
Natural variantiVAR_0747401488T → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473259Ensembl.1
Natural variantiVAR_0747411489E → D in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473616Ensembl.1
Natural variantiVAR_0747421493K → R in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473260Ensembl.1
Natural variantiVAR_0747431495Y → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473262Ensembl.1
Natural variantiVAR_0747451498M → V in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473264Ensembl.1
Natural variantiVAR_0099361501L → V in LQT3 and BRGDA1. 3 PublicationsCorresponds to variant dbSNP:rs199473266Ensembl.1
Natural variantiVAR_0015761505 – 1507Missing in LQT3. 2 Publications3
Natural variantiVAR_0747461505K → N in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473268Ensembl.1
Natural variantiVAR_0551971507 – 1509Missing in LQT3. 3
Natural variantiVAR_0747471532V → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473618Ensembl.1
Natural variantiVAR_0747481560L → F in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473619Ensembl.1
Natural variantiVAR_0747491593I → M in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473276Ensembl.1
Natural variantiVAR_0747501594F → S in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473277Ensembl.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 dbSNP:rs137854607Ensembl.1
Natural variantiVAR_0747511596F → I in LQT3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473278Ensembl.1
Natural variantiVAR_0366671609S → W in LQT3. 1 PublicationCorresponds to variant dbSNP:rs199473622Ensembl.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. 3 Publications