Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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.2 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: BHF-UCL
  • 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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 126126CytoplasmicSequence analysisAdd
BLAST
Transmembranei127 – 15024Helical; Name=S1 of repeat ISequence analysisAdd
BLAST
Topological domaini151 – 1588ExtracellularSequence analysis
Transmembranei159 – 17820Helical; Name=S2 of repeat ISequence analysisAdd
BLAST
Topological domaini179 – 19113CytoplasmicSequence analysisAdd
BLAST
Transmembranei192 – 21019Helical; Name=S3 of repeat ISequence analysisAdd
BLAST
Topological domaini211 – 2166ExtracellularSequence analysis
Transmembranei217 – 23620Helical; Voltage-sensor; Name=S4 of repeat ISequence analysisAdd
BLAST
Topological domaini237 – 25216CytoplasmicSequence analysisAdd
BLAST
Transmembranei253 – 27624Helical; Name=S5 of repeat ISequence analysisAdd
BLAST
Topological domaini277 – 389113ExtracellularSequence analysisAdd
BLAST
Transmembranei390 – 41526Helical; Name=S6 of repeat ISequence analysisAdd
BLAST
Topological domaini416 – 711296CytoplasmicSequence analysisAdd
BLAST
Transmembranei712 – 73625Helical; Name=S1 of repeat IISequence analysisAdd
BLAST
Topological domaini737 – 74711ExtracellularSequence analysisAdd
BLAST
Transmembranei748 – 77124Helical; Name=S2 of repeat IISequence analysisAdd
BLAST
Topological domaini772 – 7798CytoplasmicSequence analysis
Transmembranei780 – 79920Helical; Name=S3 of repeat IISequence analysisAdd
BLAST
Topological domaini800 – 8056ExtracellularSequence analysis
Transmembranei806 – 82520Helical; Voltage-sensor; Name=S4 of repeat IISequence analysisAdd
BLAST
Topological domaini826 – 84116CytoplasmicSequence analysisAdd
BLAST
Transmembranei842 – 86221Helical; Name=S5 of repeat IISequence analysisAdd
BLAST
Topological domaini863 – 91351ExtracellularSequence analysisAdd
BLAST
Transmembranei914 – 93926Helical; Name=S6 of repeat IISequence analysisAdd
BLAST
Topological domaini940 – 1200261CytoplasmicSequence analysisAdd
BLAST
Transmembranei1201 – 122424Helical; Name=S1 of repeat IIISequence analysisAdd
BLAST
Topological domaini1225 – 123713ExtracellularSequence analysisAdd
BLAST
Transmembranei1238 – 126326Helical; Name=S2 of repeat IIISequence analysisAdd
BLAST
Topological domaini1264 – 12696CytoplasmicSequence analysis
Transmembranei1270 – 129122Helical; Name=S3 of repeat IIISequence analysisAdd
BLAST
Topological domaini1292 – 12954ExtracellularSequence analysis
Transmembranei1296 – 131722Helical; Voltage-sensor; Name=S4 of repeat IIISequence analysisAdd
BLAST
Topological domaini1318 – 133619CytoplasmicSequence analysisAdd
BLAST
Transmembranei1337 – 135923Helical; Name=S5 of repeat IIISequence analysisAdd
BLAST
Topological domaini1360 – 144384ExtracellularSequence analysisAdd
BLAST
Transmembranei1444 – 147027Helical; Name=S6 of repeat IIISequence analysisAdd
BLAST
Topological domaini1471 – 152353CytoplasmicSequence analysisAdd
BLAST
Transmembranei1524 – 154724Helical; Name=S1 of repeat IVSequence analysisAdd
BLAST
Topological domaini1548 – 155811ExtracellularSequence analysisAdd
BLAST
Transmembranei1559 – 158224Helical; Name=S2 of repeat IVSequence analysisAdd
BLAST
Topological domaini1583 – 15886CytoplasmicSequence analysis
Transmembranei1589 – 161224Helical; Name=S3 of repeat IVSequence analysisAdd
BLAST
Topological domaini1613 – 162210ExtracellularSequence analysis
Transmembranei1623 – 164422Helical; Voltage-sensor; Name=S4 of repeat IVSequence analysisAdd
BLAST
Topological domaini1645 – 165915CytoplasmicSequence analysisAdd
BLAST
Transmembranei1660 – 168223Helical; Name=S5 of repeat IVSequence analysisAdd
BLAST
Topological domaini1683 – 174765ExtracellularSequence analysisAdd
BLAST
Transmembranei1748 – 177225Helical; Name=S6 of repeat IVSequence analysisAdd
BLAST
Topological domaini1773 – 2016244CytoplasmicSequence analysisAdd
BLAST

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: BHF-UCL
  • 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti161 – 1611E → K in BRGDA1 and PFHB1A. 3 Publications
VAR_026344
Natural varianti225 – 2251R → W in PFHB1A, BRGDA1 and LQT3. 3 Publications
VAR_055164
Natural varianti298 – 2981G → 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 Publications
VAR_017671
Natural varianti512 – 5121T → I in PFHB1A; voltage-dependent activation and inactivation of the Ile-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 Arg-558/Ile-512 channel shows that Arg-558 eliminates the negative shift induced by Ile-512 but only partially restores the kinetic abnormalities. 1 Publication
VAR_036662
Natural varianti514 – 5141G → C in BRGDA1 and PFHB1A. 2 Publications
VAR_017673
Natural varianti752 – 7521G → R in BRGDA1 and PFHB1A. 3 Publications
VAR_026361
Natural varianti1232 – 12321R → W in BRGDA1 and PFHB1A. 3 Publications
VAR_017679
Natural varianti1275 – 12751D → N in CMD1E, BRGDA1, PFHB1A and ATRST1; in familial atrial standstill is found in association with polymorphisms in the regulatory region of GJA5. 4 Publications
VAR_026373
Natural varianti1595 – 15951D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. 1 Publication
VAR_017683
Natural varianti1620 – 16201T → K in LQT3 and PFHB1A.
VAR_055201
Long QT syndrome 3 (LQT3)23 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91G → V in LQT3. 1 Publication
VAR_036660
Natural varianti18 – 181R → Q in BRGDA1 and LQT3; unknown pathological significance. 2 Publications
VAR_074312
Natural varianti27 – 271R → H in BRGDA1 and LQT3. 2 Publications
VAR_026341
Natural varianti30 – 301E → G in LQT3; unknown pathological significance. 1 Publication
VAR_074695
Natural varianti43 – 431R → Q in LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment. 2 Publications
VAR_055159
Natural varianti48 – 481E → K in LQT3; unknown pathological significance. 1 Publication
VAR_074696
Natural varianti52 – 521P → S in LQT3; unknown pathological significance. 1 Publication
VAR_074697
Natural varianti53 – 531R → Q in LQT3; unknown pathological significance. 1 Publication
VAR_074698
Natural varianti104 – 1041R → G in LQT3; unknown pathological significance. 1 Publication
VAR_074699
Natural varianti115 – 1151S → G in LQT3; unknown pathological significance. 1 Publication
VAR_074700
Natural varianti125 – 1251V → L in LQT3. 2 Publications
VAR_068326
Natural varianti212 – 2121L → P in LQT3. 1 Publication
VAR_055162
Natural varianti222 – 2221R → Q in BRGDA1 and LQT3. 2 Publications
VAR_074332
Natural varianti225 – 2251R → Q in LQT3. 1 Publication
VAR_036661
Natural varianti225 – 2251R → W in PFHB1A, BRGDA1 and LQT3. 3 Publications
VAR_055164
Natural varianti240 – 2401V → M in BRGDA1 and LQT3. 2 Publications
VAR_074334
Natural varianti245 – 2451Q → K in LQT3. 1 Publication
VAR_068327
Natural varianti247 – 2471V → L in LQT3; unknown pathological significance. 1 Publication
VAR_074701
Natural varianti275 – 2751N → K in LQT3; unknown pathological significance. 1 Publication
VAR_074702
Natural varianti289 – 2891G → S in LQT3; unknown pathological significance. 1 Publication
VAR_074703
Natural varianti340 – 3401R → W in LQT3; unknown pathological significance. 1 Publication
VAR_074704
Natural varianti367 – 3671R → C in BRGDA1 and LQT3; express no current. 4 Publications
Corresponds to variant rs28937318 [ dbSNP | Ensembl ].
VAR_026353
Natural varianti370 – 3701T → M in LQT3; unknown pathological significance. 1 Publication
VAR_074705
Natural varianti397 – 3971I → T in LQT3; unknown pathological significance. 1 Publication
VAR_074706
Natural varianti404 – 4041L → Q in LQT3. 1 Publication
VAR_068328
Natural varianti406 – 4061N → K in LQT3. 2 Publications
VAR_055170
Natural varianti409 – 4091L → V in LQT3; unknown pathological significance. 1 Publication
VAR_074707
Natural varianti411 – 4111V → M in LQT3. 2 Publications
VAR_068329
Natural varianti413 – 4131A → E in LQT3; unknown pathological significance. 1 Publication
VAR_074708
Natural varianti413 – 4131A → T in LQT3; unknown pathological significance. 1 Publication
VAR_074709
Natural varianti429 – 4291Missing in LQT3; unknown pathological significance. 1 Publication
VAR_074710
Natural varianti462 – 4621E → A in LQT3; unknown pathological significance. 1 Publication
VAR_074711
Natural varianti462 – 4621E → K in LQT3. 1 Publication
VAR_068330
Natural varianti530 – 5301F → V in LQT3; unknown pathological significance. 1 Publication
VAR_074712
Natural varianti535 – 5351R → Q in LQT3; unknown pathological significance. 1 Publication
VAR_074713
Natural varianti569 – 5691R → W in LQT3; unknown pathological significance. 1 Publication
VAR_074714
Natural varianti571 – 5711S → I in LQT3; unknown pathological significance. 1 Publication
VAR_074715
Natural varianti572 – 5721A → D in LQT3 and ATFB10. 2 Publications
Corresponds to variant rs36210423 [ dbSNP | Ensembl ].
VAR_055178
Natural varianti572 – 5721A → S in LQT3; unknown pathological significance. 1 Publication
VAR_074716
Natural varianti572 – 5721A → V in LQT3; unknown pathological significance. 1 Publication
VAR_074717
Natural varianti573 – 5731Q → E in LQT3; unknown pathological significance. 1 Publication
VAR_074718
Natural varianti579 – 5791G → R in LQT3; unknown pathological significance. 2 Publications
VAR_074361
Natural varianti586 – 5872Missing in LQT3; unknown pathological significance. 1 Publication
VAR_055179
Natural varianti615 – 6151G → E in LQT3 and BRGDA1; drug-induced LQT syndrome. 4 Publications
Corresponds to variant rs12720452 [ dbSNP | Ensembl ].
VAR_026358
Natural varianti619 – 6191L → F in LQT3 and BRGDA1. 3 Publications
VAR_015682
Natural varianti637 – 6371P → L in LQT3. 1 Publication
VAR_068331
Natural varianti639 – 6391G → R in LQT3. 2 Publications
VAR_036664
Natural varianti648 – 6481P → L in LQT3 and BRGDA1. 2 Publications
VAR_068332
Natural varianti654 – 6541E → K in LQT3; unknown pathological significance. 1 Publication
VAR_074719
Natural varianti673 – 6731L → P in LQT3; unknown pathological significance. 1 Publication
VAR_074720
Natural varianti680 – 6801R → H in LQT3.
VAR_055181
Natural varianti689 – 6891R → C in LQT3; unknown pathological significance. 1 Publication
VAR_074721
Natural varianti689 – 6891R → H in LQT3; unknown pathological significance. 2 Publications
VAR_074374
Natural varianti701 – 7011P → L in BRGDA1 and LQT3. 2 Publications
VAR_074376
Natural varianti731 – 7311T → I in LQT3; unknown pathological significance. 1 Publication
VAR_074722
Natural varianti750 – 7501Q → R in LQT3; unknown pathological significance. 1 Publication
VAR_074723
Natural varianti772 – 7721D → N in BRGDA1 and LQT3. 2 Publications
VAR_074382
Natural varianti816 – 8161F → Y in LQT3; unknown pathological significance. 1 Publication
VAR_074724
Natural varianti848 – 8481I → F in LQT3; unknown pathological significance. 1 Publication
VAR_074725
Natural varianti941 – 9411S → N in LQT3; also in SIDS. 1 Publication
VAR_017675
Natural varianti960 – 9601Q → K in LQT3; unknown pathological significance. 1 Publication
VAR_074726
Natural varianti965 – 9651R → L in LQT3; unknown pathological significance. 1 Publication
VAR_074727
Natural varianti971 – 9711R → C in LQT3. 1 Publication
VAR_068333
Natural varianti981 – 9811C → F in LQT3; unknown pathological significance. 1 Publication
VAR_074728
Natural varianti997 – 9971A → 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 Publications
VAR_017676
Natural varianti1004 – 10041C → R in LQT3; unknown pathological significance. 1 Publication
VAR_074729
Natural varianti1053 – 10531E → K in BRGDA1, ATFB10 and LQT3; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes. 5 Publications
VAR_026368
Natural varianti1069 – 10691T → M in LQT3. 2 Publications
VAR_068334
Natural varianti1100 – 11001A → V in LQT3; unknown pathological significance. 1 Publication
VAR_074730
Natural varianti1114 – 11141D → N in LQT3. 2 Publications
VAR_009935
Natural varianti1166 – 11661D → N in LQT3; unknown pathological significance. 1 Publication
VAR_074731
Natural varianti1193 – 11931R → 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 Publications
Corresponds to variant rs41261344 [ dbSNP | Ensembl ].
VAR_017678
Natural varianti1199 – 11991Y → S in LQT3; unknown pathological significance. 1 Publication
VAR_074732
Natural varianti1212 – 12121Missing in LQT3; unknown pathological significance. 1 Publication
VAR_074733
Natural varianti1225 – 12251E → K in BRGDA1 and LQT3. 3 Publications
VAR_026369
Natural varianti1231 – 12311E → K in LQT3. 1 Publication
VAR_068335
Natural varianti1250 – 12501F → L in LQT3; drug-induced LQT syndrome. 1 Publication
Corresponds to variant rs45589741 [ dbSNP | Ensembl ].
VAR_026372
Natural varianti1283 – 12831L → M in LQT3; unknown pathological significance. 1 Publication
VAR_074734
Natural varianti1295 – 12951E → K in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation. 1 Publication
VAR_055187
Natural varianti1304 – 13041T → M in LQT3. 2 Publications
VAR_008956
Natural varianti1325 – 13251N → S in LQT3. 2 Publications
Corresponds to variant rs28937317 [ dbSNP | Ensembl ].
VAR_001577
Natural varianti1326 – 13261A → S in LQT3; unknown pathological significance. 1 Publication
VAR_074735
Natural varianti1330 – 13301A → P in LQT3.
VAR_055189
Natural varianti1330 – 13301A → T in LQT3.
VAR_055190
Natural varianti1332 – 13321P → L in LQT3 and BRGDA1; unknown pathological significance. 1 Publication
VAR_055191
Natural varianti1333 – 13331S → Y in LQT3 and SIDS. 2 Publications
VAR_036666
Natural varianti1334 – 13341I → V in LQT3; unknown pathological significance. 1 Publication
VAR_074736
Natural varianti1338 – 13381L → V in LQT3; unknown pathological significance. 1 Publication
VAR_074737
Natural varianti1432 – 14321R → S in BRGDA1 and LQT3. 2 Publications
VAR_074441
Natural varianti1458 – 14581S → Y in LQT3. 1 Publication
VAR_068336
Natural varianti1472 – 14721N → S in LQT3; unknown pathological significance. 1 Publication
VAR_074738
Natural varianti1473 – 14731F → C in LQT3. 2 Publications
VAR_055194
Natural varianti1481 – 14811G → E in LQT3. 2 Publications
VAR_068337
Natural varianti1486 – 14861F → L in LQT3.
VAR_055195
Natural varianti1487 – 14871M → L in LQT3; unknown pathological significance. 1 Publication
VAR_074739
Natural varianti1488 – 14881T → R in LQT3; unknown pathological significance. 1 Publication
VAR_074740
Natural varianti1489 – 14891E → D in LQT3; unknown pathological significance. 1 Publication
VAR_074741
Natural varianti1493 – 14931K → R in LQT3; unknown pathological significance. 1 Publication
VAR_074742
Natural varianti1495 – 14951Y → S in LQT3; unknown pathological significance. 1 Publication
VAR_074743
Natural varianti1498 – 14981M → V in LQT3; unknown pathological significance. 1 Publication
VAR_074745
Natural varianti1501 – 15011L → V in LQT3 and BRGDA1. 3 Publications
VAR_009936
Natural varianti1505 – 15073Missing in LQT3. 2 Publications
VAR_001576
Natural varianti1505 – 15051K → N in LQT3; unknown pathological significance. 1 Publication
VAR_074746
Natural varianti1507 – 15093Missing in LQT3.
VAR_055197
Natural varianti1532 – 15321V → I in LQT3; unknown pathological significance. 1 Publication
VAR_074747
Natural varianti1560 – 15601L → F in LQT3; unknown pathological significance. 1 Publication
VAR_074748
Natural varianti1593 – 15931I → M in LQT3; unknown pathological significance. 1 Publication
VAR_074749
Natural varianti1594 – 15941F → S in LQT3; unknown pathological significance. 1 Publication
VAR_074750
Natural varianti1595 – 15951D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. 1 Publication
VAR_017683
Natural varianti1596 – 15961F → I in LQT3; unknown pathological significance. 1 Publication
VAR_074751
Natural varianti1609 – 16091S → W in LQT3. 1 Publication
VAR_036667
Natural varianti1617 – 16171Missing in LQT3 and BRGDA1. 2 Publications
VAR_055200
Natural varianti1620 – 16201T → K in LQT3 and PFHB1A.
VAR_055201
Natural varianti1623 – 16231R → L in LQT3. 3 Publications
VAR_009937
Natural varianti1623 – 16231R → Q in LQT3 and BRGDA1. 4 Publications
VAR_001578
Natural varianti1626 – 16261R → H in LQT3; unknown pathological significance. 1 Publication
VAR_074752
Natural varianti1626 – 16261R → P in LQT3; unknown pathological significance. 1 Publication
VAR_055202
Natural varianti1644 – 16441R → C in LQT3 and BRGDA1. 2 Publications
VAR_055203
Natural varianti1644 – 16441R → H in LQT3. 2 Publications
Corresponds to variant rs28937316 [ dbSNP | Ensembl ].
VAR_001579
Natural varianti1645 – 16451T → M in LQT3. 1 Publication
VAR_008958
Natural varianti1650 – 16501L → F in LQT3; unknown pathological significance. 1 Publication
VAR_074753
Natural varianti1652 – 16521M → R in LQT3.
VAR_055205
Natural varianti1652 – 16521M → T in LQT3; unknown pathological significance. 1 Publication
VAR_074754
Natural varianti1660 – 16601I → 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 Publications
VAR_055206
Natural varianti1667 – 16671V → I in LQT3 and BRGDA1. 2 Publications
VAR_068338
Natural varianti1723 – 17231T → N in LQT3; unknown pathological significance. 1 Publication
VAR_074755
Natural varianti1739 – 17391R → W in LQT3; unknown pathological significance. 1 Publication
VAR_074756
Natural varianti1761 – 17611L → F in LQT3; unknown pathological significance. 1 Publication
VAR_074757
Natural varianti1761 – 17611L → H in LQT3; unknown pathological significance. 1 Publication
VAR_074758
Natural varianti1763 – 17631V → M in LQT3. 2 Publications
VAR_055209
Natural varianti1766 – 17661M → L in LQT3; affects protein trafficking. 2 Publications
VAR_055210
Natural varianti1767 – 17671Y → C in LQT3; unknown pathological significance. 1 Publication
VAR_074759
Natural varianti1768 – 17681I → V in LQT3; increases the rate of recovery from inactivation and the channel availability, observed as a positive shift of the steady-state inactivation curve. 1 Publication
VAR_055211
Natural varianti1777 – 17771V → M in LQT3. 2 Publications
VAR_055212
Natural varianti1779 – 17791T → M in LQT3 and BRGDA1. 3 Publications
VAR_068339
Natural varianti1784 – 17841E → K in LQT3 and BRGDA1. 6 Publications