Q14524 (SCN5A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

SCN5A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2016 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.19
Subunit structure	Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 By similarity. Interacts with NEDD4, NEDD4L, WWP2 and GPD1L. Interacts with CALM. Interacts with FGF13; the interaction is direct and may regulate SNC5A density at membranes and function. Ref.11 Ref.12 Ref.14 Ref.17 Ref.20
Subcellular location	Membrane; Multi-pass membrane protein Ref.19.
Tissue specificity	Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain. Ref.2 Ref.15
Domain	The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Post-translational modification	Regulated through phosphorylation by CaMK2D By similarity. Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4 or WWP2. Ref.11 Ref.12
Involvement in disease	Progressive familial heart block 1A (PFHB1A) [MIM:113900]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.43 Ref.45 Ref.55 Ref.57 Ref.89 Long QT syndrome 3 (LQT3) [MIM:603830]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.29 Ref.31 Ref.33 Ref.34 Ref.36 Ref.38 Ref.39 Ref.40 Ref.42 Ref.46 Ref.48 Ref.52 Ref.56 Ref.65 Ref.69 Ref.71 Ref.73 Ref.81 Ref.82 Ref.84 Ref.91 Brugada syndrome 1 (BRGDA1) [MIM:601144]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.28 Ref.30 Ref.32 Ref.34 Ref.35 Ref.40 Ref.44 Ref.47 Ref.49 Ref.51 Ref.59 Ref.61 Ref.62 Ref.63 Ref.64 Ref.66 Ref.67 Ref.68 Ref.70 Ref.72 Ref.74 Ref.75 Ref.76 Ref.77 Ref.89 Ref.90 Sick sinus syndrome 1 (SSS1) [MIM:608567]: The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.41 Ref.58 Ref.92 Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM:603829]: A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.37 Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.34 Ref.86 Ref.88 Familial atrial standstill (FAS) [MIM:108770]: Atrial standstill is an extremely rare arrhythmia, characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. Note: The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A mutation in SCN5A has been detected in combination with a rare GJA5 genotype in a large family with atrial standstill. Ref.34 Ref.54 Cardiomyopathy, dilated 1E (CMD1E) [MIM:601154]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.60 Familial atrial fibrillation 10 (ATFB10) [MIM:614022]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.79 Ref.80
Miscellaneous	Na+ channels in mammalian cardiac membrane have functional properties quite distinct from Na+ channels in nerve and skeletal muscle.
Sequence similarities	Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily. [View classification] Contains 1 IQ domain.

Ontologies

Keywords
Biological process	Ion transport Sodium transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Atrial fibrillation Brugada syndrome Cardiomyopathy Disease mutation Long QT syndrome
Domain	Repeat Transmembrane Transmembrane helix
Ligand	Calmodulin-binding Sodium
Molecular function	Ion channel Sodium channel Voltage-gated channel
PTM	Glycoprotein Methylation Phosphoprotein Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	AV node cell to bundle of His cell communication Inferred from mutant phenotype Ref.34Ref.75. Source: BHF-UCL brainstem development Inferred from sequence or structural similarity. Source: BHF-UCL bundle of His cell to Purkinje myocyte communication Inferred from mutant phenotype PubMed 18065446. Source: BHF-UCL cardiac muscle contraction Inferred from mutant phenotype PubMed 18065446PubMed 21895525PubMed 22529811. Source: BHF-UCL cardiac ventricle development Inferred from sequence or structural similarity. Source: BHF-UCL cellular response to calcium ion Inferred from direct assay Ref.19. Source: UniProtKB cerebellum development Inferred from sequence or structural similarity. Source: BHF-UCL membrane depolarization involved in regulation of SA node cell action potential Inferred from sequence or structural similarity. Source: BHF-UCL odontogenesis of dentin-containing tooth Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of action potential Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of epithelial cell proliferation Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of sodium ion transport Inferred from direct assay Ref.3PubMed 18065446PubMed 19808477PubMed 22529811. Source: BHF-UCL regulation of atrial cardiac muscle cell membrane depolarization Inferred from mutant phenotype PubMed 19167345PubMed 22247482. Source: BHF-UCL regulation of atrial cardiac muscle cell membrane repolarization Inferred from mutant phenotype PubMed 19167345. Source: BHF-UCL regulation of heart rate by cardiac conduction Inferred from mutant phenotype PubMed 21895525. Source: BHF-UCL regulation of ventricular cardiac muscle cell action potential Inferred from mutant phenotype PubMed 18065446PubMed 22529811. Source: BHF-UCL regulation of ventricular cardiac muscle cell membrane depolarization Inferred from mutant phenotype PubMed 18065446PubMed 22529811Ref.21. Source: BHF-UCL regulation of ventricular cardiac muscle cell membrane repolarization Inferred from mutant phenotype Ref.21. Source: BHF-UCL response to denervation involved in regulation of muscle adaptation Inferred from sequence or structural similarity. Source: BHF-UCL telencephalon development Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular_component	T-tubule Inferred from direct assay Ref.62. Source: BHF-UCL cell surface Inferred from direct assay Ref.3Ref.14. Source: BHF-UCL endoplasmic reticulum Inferred from direct assay PubMed 22529811. Source: BHF-UCL intercalated disc Inferred from direct assay Ref.62. Source: BHF-UCL voltage-gated sodium channel complex Inferred from direct assay PubMed 19808477PubMed 20042427PubMed 21051419. Source: BHF-UCL
Molecular_function	ankyrin binding Inferred from direct assay Ref.62. Source: BHF-UCL voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential Inferred from direct assay PubMed 18065446. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CALM3	P62158	2	EBI-726858,EBI-397435

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q14524-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q14524-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1076-1076: Missing.

Note: Very abundant isoform.

Isoform 3 (identifier: Q14524-3)

The sequence of this isoform differs from the canonical sequence as follows:
     206-211: TTEFVD → VSENIK
     1076-1076: Missing.
     1573-1604: Missing.

Isoform 4 (identifier: Q14524-4)

The sequence of this isoform differs from the canonical sequence as follows:
     206-211: TTEFVD → VSENIK

Isoform 5 (identifier: Q14524-5)

The sequence of this isoform differs from the canonical sequence as follows:
     206-211: TTEFVD → VSENIK
     1077-1130: Missing.

Isoform 6 (identifier: Q14524-6)

The sequence of this isoform differs from the canonical sequence as follows:
     206-211: TTEFVD → VSENIK
     1416-1433: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 2016

2016

Sodium channel protein type 5 subunit alpha

PRO_0000048497

Regions

Transmembrane

127 – 150

24

Helical; Name=S1 of repeat I; Potential

Transmembrane

159 – 178

20

Helical; Name=S2 of repeat I; Potential

Transmembrane

192 – 210

19

Helical; Name=S3 of repeat I; Potential

Transmembrane

217 – 236

20

Helical; Voltage-sensor; Name=S4 of repeat I; Potential

Transmembrane

253 – 276

24

Helical; Name=S5 of repeat I; Potential

Transmembrane

390 – 415

26

Helical; Name=S6 of repeat I; Potential

Transmembrane

712 – 736

25

Helical; Name=S1 of repeat II; Potential

Transmembrane

748 – 771

24

Helical; Name=S2 of repeat II; Potential

Transmembrane

780 – 799

20

Helical; Name=S3 of repeat II; Potential

Transmembrane

806 – 825

20

Helical; Voltage-sensor; Name=S4 of repeat II; Potential

Transmembrane

842 – 862

21

Helical; Name=S5 of repeat II; Potential

Transmembrane

914 – 939

26

Helical; Name=S6 of repeat II; Potential

Transmembrane

1201 – 1224

24

Helical; Name=S1 of repeat III; Potential

Transmembrane

1238 – 1263

26

Helical; Name=S2 of repeat III; Potential

Transmembrane

1270 – 1291

22

Helical; Name=S3 of repeat III; Potential

Transmembrane

1296 – 1317

22

Helical; Voltage-sensor; Name=S4 of repeat III; Potential

Transmembrane

1337 – 1359

23

Helical; Name=S5 of repeat III; Potential

Transmembrane

1444 – 1470

27

Helical; Name=S6 of repeat III; Potential

Transmembrane

1524 – 1547

24

Helical; Name=S1 of repeat IV; Potential

Transmembrane

1559 – 1582

24

Helical; Name=S2 of repeat IV; Potential

Transmembrane

1589 – 1612

24

Helical; Name=S3 of repeat IV; Potential

Transmembrane

1623 – 1644

22

Helical; Voltage-sensor; Name=S4 of repeat IV; Potential

Transmembrane

1660 – 1682

23

Helical; Name=S5 of repeat IV; Potential

Transmembrane

1748 – 1772

25

Helical; Name=S6 of repeat IV; Potential

Domain

1901 – 1930

30

IQ

Region

1974 – 1977

4

Interaction with NEDD4, NEDD4L and WWP2

Amino acid modifications

Modified residue

513

1

Dimethylated arginine; alternate Ref.18

Modified residue

513

1

Omega-N-methylarginine; alternate Ref.18

Modified residue

526

1

Dimethylated arginine; alternate Ref.18

Modified residue

526

1

Omega-N-methylarginine; alternate Ref.18

Modified residue

680

1

Dimethylated arginine; alternate Ref.18

Modified residue

680

1

Omega-N-methylarginine; alternate Ref.18

Glycosylation

214

1

N-linked (GlcNAc...) Potential

Glycosylation

283

1

N-linked (GlcNAc...) Potential

Glycosylation

288

1

N-linked (GlcNAc...) Potential

Glycosylation

291

1

N-linked (GlcNAc...) Potential

Glycosylation

318

1

N-linked (GlcNAc...) Potential

Glycosylation

328

1

N-linked (GlcNAc...) Potential

Glycosylation

548

1

N-linked (GlcNAc...) Potential

Glycosylation

592

1

N-linked (GlcNAc...) Potential

Glycosylation

740

1

N-linked (GlcNAc...) Potential

Glycosylation

803

1

N-linked (GlcNAc...) Potential

Glycosylation

841

1

N-linked (GlcNAc...) Potential

Glycosylation

864

1

N-linked (GlcNAc...) Potential

Glycosylation

946

1

N-linked (GlcNAc...) Potential

Glycosylation

1365

1

N-linked (GlcNAc...) Potential

Glycosylation

1374

1

N-linked (GlcNAc...) Potential

Glycosylation

1380

1

N-linked (GlcNAc...) Potential

Glycosylation

1388

1

N-linked (GlcNAc...) Potential

Glycosylation

1736

1

N-linked (GlcNAc...) Potential

Glycosylation

1774

1

N-linked (GlcNAc...) Potential

Glycosylation

1955

1

N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence

206 – 211

6

TTEFVD → VSENIK in isoform 3, isoform 4, isoform 5 and isoform 6.

VSP_037477

Alternative sequence

1076

1

Missing in isoform 2 and isoform 3.

VSP_037478

Alternative sequence

1077 – 1130

54

Missing in isoform 5.

VSP_037479

Alternative sequence

1416 – 1433

18

Missing in isoform 6.

VSP_037480

Alternative sequence

1573 – 1604

32

Missing in isoform 3.

VSP_037481

Natural variant

9

1

G → V in LQT3. Ref.69

VAR_036660

Natural variant

18

1

R → W in LQT3. Ref.65

VAR_068325

Natural variant

27

1

R → H in BRGDA1. Ref.47

VAR_026341

Natural variant

34

1

R → C. Ref.48 Ref.79
Corresponds to variant rs6791924 [ dbSNP | Ensembl ].

VAR_026342

Natural variant

43

1

R → Q in LQT3; does not affect baseline kinetics of sodium currents; causes an unusual hyperpolarizing shift of the activation kinetics after lidocaine treatment. Ref.82

VAR_055159

Natural variant

95

1

V → I in BRGDA1. Ref.70

VAR_055160

Natural variant

125

1

V → L in LQT3. Ref.65

VAR_068326

Natural variant

126

1

K → E in BRGDA1. Ref.51

VAR_026343

Natural variant

138

1

M → I in ATFB10. Ref.79

VAR_055161

Natural variant

161

1

E → K in BRGDA1 and PFHB1A. Ref.44 Ref.89

VAR_026344

Natural variant

187

1

T → I in BRGDA1; loss of function. Ref.66

VAR_026345

Natural variant

212

1

L → P in PFHB1A.

VAR_055162

Natural variant

216

1

S → L Rare variant found in patients with atrial fibrillation; unknown pathological significance. Ref.79
Corresponds to variant rs41276525 [ dbSNP | Ensembl ].

VAR_055163

Natural variant

220

1

T → I in SSS1. Ref.58
Corresponds to variant rs45620037 [ dbSNP | Ensembl ].

VAR_017670

Natural variant

225

1

R → Q in LQT3. Ref.69

VAR_036661

Natural variant

225

1

R → W in PFHB1A. Ref.55

VAR_055164

Natural variant

226

1

A → V in BRGDA1. Ref.47

VAR_026346

Natural variant

230

1

I → V in BRGDA1. Ref.47

VAR_026347

Natural variant

232

1

V → I. Ref.78
Corresponds to variant rs45471994 [ dbSNP | Ensembl ].

VAR_055165

Natural variant

245

1

Q → K in LQT3. Ref.65

VAR_068327

Natural variant

282

1

R → H in BRGDA1. Ref.47

VAR_026348

Natural variant

294

1

V → M in BRGDA1. Ref.47

VAR_026349

Natural variant

298

1

G → 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. Ref.45 Ref.87

VAR_017671

Natural variant

319

1

G → S in BRGDA1. Ref.47

VAR_026350

Natural variant

325

1

L → R in BRGDA1.

VAR_055166

Natural variant

336

1

P → L in BRGDA1; detected in a compound heterozygote also carrying V-1660; the presence of both mutations is necessary for the phenotypic expression of the disease; severe reduction of sodium currents. Ref.6 Ref.68

VAR_055167

Natural variant

351

1

G → V in BRGDA1; 7-fold current reduction. Ref.51

VAR_026351

Natural variant

353

1

T → I in BRGDA1. Ref.72

VAR_055168

Natural variant

356

1

D → N in BRGDA1; loss of function. Ref.66

VAR_026352

Natural variant

367

1

R → C in BRGDA1; express no current. Ref.44 Ref.89
Corresponds to variant rs28937318 [ dbSNP | Ensembl ].

VAR_026353

Natural variant

367

1

R → H in BRGDA1; express no current. Ref.49 Ref.89
Corresponds to variant rs28937318 [ dbSNP | Ensembl ].

VAR_017672

Natural variant

369

1

M → K in BRGDA1. Ref.44

VAR_026354

Natural variant

376

1

R → H Found in patients with atrial fibrillation. Ref.79

VAR_055169

Natural variant

393

1

Missing in BRGDA1. Ref.47

VAR_026355

Natural variant

404

1

L → Q in LQT3. Ref.65

VAR_068328

Natural variant

406

1

N → K in LQT3. Ref.65

VAR_055170

Natural variant

406

1

N → S in BRGDA1.

VAR_055171

Natural variant

411

1

V → M in LQT3. Ref.65

VAR_068329

Natural variant

428

1

E → K in ATFB10. Ref.79

VAR_055172

Natural variant

445

1

H → D in ATFB10. Ref.79

VAR_055173

Natural variant

461

1

L → V Found in patients with atrial fibrillation. Ref.79
Corresponds to variant rs41313697 [ dbSNP | Ensembl ].

VAR_055174

Natural variant

462

1

E → K in LQT3. Ref.65

VAR_068330

Natural variant

470

1

N → K in ATFB10. Ref.79

VAR_055175

Natural variant

481

1

R → W Found in patients with atrial fibrillation. Ref.79

VAR_055176

Natural variant

512

1

T → 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. Ref.57

VAR_036662

Natural variant

514

1

G → C in BRGDA1 and PFHB1A. Ref.43 Ref.89

VAR_017673

Natural variant

524

1

S → Y Found in patients with atrial fibrillation. Ref.79
Corresponds to variant rs41313691 [ dbSNP | Ensembl ].

VAR_036663

Natural variant

532

1

F → C in SIDS. Ref.86

VAR_055177

Natural variant

552

1

G → R. Ref.1 Ref.2 Ref.67
Corresponds to variant rs3918389 [ dbSNP | Ensembl ].

VAR_026356

Natural variant

558

1

H → R Channels properties are similar to wild-type; 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; can modulate the gating defects caused by Ala-2006 and other mutations. Ref.3 Ref.4 Ref.9 Ref.48 Ref.51 Ref.57 Ref.79 Ref.85 Ref.91
Corresponds to variant rs1805124 [ dbSNP | Ensembl ].

VAR_008955

Natural variant

567

1

L → Q in BRGDA1. Ref.47

VAR_026357

Natural variant

572

1

A → D in LQT3 and ATFB10. Ref.65 Ref.79
Corresponds to variant rs36210423 [ dbSNP | Ensembl ].

VAR_055178

Natural variant

586 – 587

2

Missing in LQT3.

VAR_055179

Natural variant

615

1

G → E in LQT3; drug-induced LQT syndrome. Ref.48 Ref.65
Corresponds to variant rs12720452 [ dbSNP | Ensembl ].

VAR_026358

Natural variant

618

1

L → F in drug-induced LQT syndrome; also found in patients with atrial fibrillation. Ref.65 Ref.79
Corresponds to variant rs45488304 [ dbSNP | Ensembl ].

VAR_047360

Natural variant

619

1

L → F in LQT3. Ref.48 Ref.56

VAR_015682

Natural variant

637

1

P → L in LQT3. Ref.65

VAR_068331

Natural variant

639

1

G → R in LQT3. Ref.69

VAR_036664

Natural variant

648

1

P → L in LQT3. Ref.65

VAR_068332

Natural variant

655

1

E → K in ATFB10. Ref.79

VAR_055180

Natural variant

680

1

R → H in LQT3.

VAR_055181

Natural variant

681

1

H → P in BRGDA1. Ref.47

VAR_026359

Natural variant

735

1

A → E in BRGDA1. Ref.47

VAR_026360

Natural variant

735

1

A → V in BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential. Ref.49 Ref.92

VAR_017674

Natural variant

752

1

G → R in BRGDA1 and PFHB1A. Ref.44 Ref.89

VAR_026361

Natural variant

814

1

R → Q in BRGDA1.

VAR_055182

Natural variant

851

1

F → L in BRGDA1. Ref.47

VAR_026362

Natural variant

878

1

R → C in BRGDA1. Ref.75

VAR_055183

Natural variant

892

1

F → I in BRGDA1. Ref.47

VAR_026363

Natural variant

896

1

C → S in BRGDA1. Ref.47

VAR_026364

Natural variant

910

1

S → L in BRGDA1. Ref.47

VAR_026365

Natural variant

941

1

S → N in LQT3; also in SIDS. Ref.38

VAR_017675

Natural variant

965

1

R → C in BRGDA1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation. Ref.47 Ref.90

VAR_026366

Natural variant

971

1

R → C in LQT3. Ref.65

VAR_068333

Natural variant

997

1

A → 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. Ref.42 Ref.79

VAR_017676

Natural variant

1023

1

R → H in BRGDA1.

VAR_055184

Natural variant

1027

1

R → Q. Ref.1 Ref.6 Ref.67

VAR_026367

Natural variant

1041

1

D → N.
Corresponds to variant rs45491996 [ dbSNP | Ensembl ].

VAR_047361

Natural variant

1053

1

E → K in BRGDA1 and ATFB10; abolishes binding to ANK3 and also prevents accumulation of SCN5A at cell surface sites in ventricular cardiomyocytes. Ref.47 Ref.62 Ref.79

VAR_026368

Natural variant

1069

1

T → M in LQT3. Ref.65

VAR_068334

Natural variant

1084

1

G → S in SIDS; may be a rare polymorphism. Ref.86

VAR_055185

Natural variant

1090

1

P → L. Ref.85
Corresponds to variant rs1805125 [ dbSNP | Ensembl ].

VAR_014464

Natural variant

1103

1

S → Y May confer susceptibility to acquired arrhythmia. Ref.3 Ref.50 Ref.53 Ref.79
Corresponds to variant rs7626962 [ dbSNP | Ensembl ].

VAR_017677

Natural variant

1114

1

D → N in LQT3. Ref.36

VAR_009935

Natural variant

1131

1

T → I in ATFB10. Ref.79

VAR_055186

Natural variant

1180

1

A → V.
Corresponds to variant rs41310765 [ dbSNP | Ensembl ].

VAR_047362

Natural variant

1193

1

R → 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. Ref.49 Ref.79
Corresponds to variant rs41261344 [ dbSNP | Ensembl ].

VAR_017678

Natural variant

1225

1

E → K in BRGDA1 and LQT3. Ref.44 Ref.65

VAR_026369

Natural variant

1231

1

E → K in LQT3. Ref.65

VAR_068335

Natural variant

1232

1

R → W in BRGDA1 and PFHB1A. Ref.28 Ref.89

VAR_017679

Natural variant

1236

1

K → N in BRGDA1. Ref.47

VAR_026370

Natural variant

1240

1

E → Q in BRGDA1. Ref.47

VAR_026371

Natural variant

1250

1

F → L in LQT3; drug-induced LQT syndrome. Ref.48
Corresponds to variant rs45589741 [ dbSNP | Ensembl ].

VAR_026372

Natural variant

1262

1

G → S in BRGDA1. Ref.61

VAR_036665

Natural variant

1275

1

D → N in CMD1E, BRGDA1, PFHB1A and FAS; in familial atrial standstill is found in association with polymorphisms in the regulatory region of GJA5. Ref.54 Ref.60 Ref.89

VAR_026373

Natural variant

1293

1

F → S in BRGDA1. Ref.47
Corresponds to variant rs41311127 [ dbSNP | Ensembl ].

VAR_026374

Natural variant

1295

1

E → K in LQT3; causes significant positive shifts in the half-maximal voltage of steady-state inactivation and activation. Ref.39

VAR_055187

Natural variant

1298

1

P → L in SSS1. Ref.58
Corresponds to variant rs28937319 [ dbSNP | Ensembl ].

VAR_017680

Natural variant

1304

1

T → M in LQT3. Ref.29

VAR_008956

Natural variant

1308

1

L → F Associated with I-232 in a case of lidocaine-induced Brugada syndrome. Ref.78
Corresponds to variant rs41313031 [ dbSNP | Ensembl ].

VAR_055188

Natural variant

1319

1

G → V in BRGDA1. Ref.44 Ref.89

VAR_026375

Natural variant

1325

1

N → S in LQT3. Ref.65
Corresponds to variant rs28937317 [ dbSNP | Ensembl ].

VAR_001577

Natural variant

1330

1

A → P in LQT3.

VAR_055189

Natural variant

1330

1

A → T in LQT3.

VAR_055190

Natural variant

1332

1

P → L in LQT3.

VAR_055191

Natural variant

1333

1

S → Y in LQT3 and SIDS. Ref.69 Ref.88

VAR_036666

Natural variant

1344

1

F → S in BRGDA1. Ref.67

VAR_026376

Natural variant

1382

1

S → I in BRGDA1. Ref.44

VAR_026377

Natural variant

1405

1

V → L in BRGDA1. Ref.44

VAR_026378

Natural variant

1406

1

G → R in BRGDA1. Ref.44

VAR_026379

Natural variant

1408

1

G → R in SSS1 and BRGDA1; also in cardiac conduction defect. Ref.41 Ref.58 Ref.89
Corresponds to variant rs28936971 [ dbSNP | Ensembl ].

VAR_017681

Natural variant

1432

1

R → G in BRGDA1.

VAR_055192

Natural variant

1438

1

P → L in BRGDA1.

VAR_055193

Natural variant

1458

1

S → Y in LQT3. Ref.65

VAR_068336

Natural variant

1473

1

F → C in LQT3. Ref.73

VAR_055194

Natural variant

1479

1

Missing in BRGDA1. Ref.44

VAR_026380

Natural variant

1481

1

G → E in LQT3. Ref.65

VAR_068337

Natural variant

1486

1

F → L in LQT3.

VAR_055195

Natural variant

1494

1

Y → N in BRGDA1. Ref.74

VAR_055196

Natural variant

1500

1

K → N. Ref.29

VAR_008957

Natural variant

1500

1

Missing in BRGDA1. Ref.47

VAR_026381

Natural variant

1501

1

L → V in LQT3. Ref.36

VAR_009936

Natural variant

1502

1

G → S in BRGDA1. Ref.44

VAR_026382

Natural variant

1505 – 1507

3

Missing in LQT3.

VAR_001576

Natural variant

1507 – 1509

3

Missing in LQT3.

VAR_055197

Natural variant

1512

1

R → W in BRGDA1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke. Ref.30 Ref.44 Ref.89

VAR_017682

Natural variant

1527

1

K → R in BRGDA1; asymptomatic patient; associated with P-1569. Ref.64

VAR_055198

Natural variant

1569

1

A → P in BRGDA1; asymptomatic patient; associated with R-1527. Ref.64

VAR_055199

Natural variant

1595

1

D → N in PFHB1A; significant defect in the kinetics of fast-channel inactivation distinct from mutations reported in LQT3. Ref.45

VAR_017683

Natural variant

1609

1

S → W in LQT3. Ref.69

VAR_036667

Natural variant

1617

1

Missing in LQT3 and BRGDA1. Ref.70

VAR_055200

Natural variant

1620

1

T → K in LQT3 and PFHB1A.

VAR_055201

Natural variant

1620

1

T → M in BRGDA1; arrhythmogenicity revealed only at temperatures approaching the physiologic range. Ref.28 Ref.32 Ref.35

VAR_017684

Natural variant

1623

1

R → L in LQT3. Ref.36 Ref.65

VAR_009937

Natural variant

1623

1

R → Q in LQT3. Ref.25 Ref.27

VAR_001578

Natural variant

1626

1

R → P in LQT3.

VAR_055202

Natural variant

1644

1

R → C in LQT3 and BRGDA1.

VAR_055203

Natural variant

1644

1

R → H in LQT3. Ref.36 Ref.65
Corresponds to variant rs28937316 [ dbSNP | Ensembl ].

VAR_001579

Natural variant

1645

1

T → M in LQT3. Ref.29

VAR_008958

Natural variant

1649

1

A → V in BRGDA1. Ref.70

VAR_055204

Natural variant

1652

1

M → R in LQT3.

VAR_055205

Natural variant

1660

1

I → V in BRGDA1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane. Ref.68

VAR_055206

Natural variant

1667

1

V → I in LQT3. Ref.65

VAR_068338

Natural variant

1705

1

F → S in SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation. Ref.86

VAR_055207

Natural variant

1710

1

S → L in VF1. Ref.37

VAR_017685

Natural variant

1714

1

D → G in BRGDA1; strong decrease of current density; does not affect ion selectivity properties. Ref.63 Ref.89

VAR_026383

Natural variant

1740

1

G → R in BRGDA1. Ref.47 Ref.89

VAR_026384

Natural variant

1743

1

G → E in BRGDA1. Ref.44 Ref.89

VAR_026385

Natural variant

1743

1

G → R in BRGDA1; yields nearly undetectable currents in transfected cells. Ref.59

VAR_055208

Natural variant

1763

1

V → M in LQT3. Ref.65

VAR_055209

Natural variant

1766

1

M → L in LQT3; affects protein trafficking. Ref.4 Ref.65

VAR_055210

Natural variant

1768

1

I → 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. Ref.52

VAR_055211

Natural variant

1777

1

V → M in LQT3. Ref.65

VAR_055212

Natural variant

1779

1

T → M in LQT3. Ref.65

VAR_068339

Natural variant

1784

1

E → K in LQT3 and BRGDA1. Ref.31 Ref.47 Ref.65 Ref.84

VAR_008959

Natural variant

1787

1

S → N in LQT3. Ref.36

VAR_009938

Natural variant

1790

1

D → G in LQT3. Ref.24

VAR_001580

Natural variant

1792

1

D → N in SSS1. Ref.92

VAR_068475

Natural variant

1795

1

Y → C in LQT3; also in a family associating LQT syndrome and atrial fibrillation; slows the onset of activation, but does not cause a marked negative shift in the voltage dependence of inactivation or affect the kinetics of the recovery from inactivation; increases the expression of sustained Na(+) channel activity and promotes entrance into an intermediate or slowly developing inactivated state. Ref.40 Ref.65 Ref.81

VAR_019123

Natural variant

1795

1

Y → H in BRGDA1; accelerates the onset of activation and causes a marked negative shift in the voltage dependence of inactivation; does not affect the kinetics of the recovery from inactivation; increases the expression of sustained Na(+) channel activity and promotes entrance into an intermediate or slowly developing inactivated state. Ref.40 Ref.47

VAR_019124

Natural variant

1795

1

Y → YD in LQT3 and BRGDA1; 7.3-mV negative shift of the steady-state inactivation curve and 8.1-mV positive shift of the steady-state activation curve; may reduced sodium current during the upstroke of the action potential. Ref.33 Ref.46

VAR_017686

Natural variant

1819

1

D → N in LQT3; digenic; associated with Gly-100 mutation on the KCNH2 gene. Ref.69

VAR_036668

Natural variant

1825

1

L → P in LQT3; drug-induced LQT syndrome.

VAR_055213

Natural variant

1826

1

R → C in ATFB10. Ref.79

VAR_055214

Natural variant

1826

1

R → H in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current. Ref.42

VAR_017687

Natural variant

1839

1

D → G in LQT3. Ref.26

VAR_001581

Natural variant

1850

1

C → S in BRGDA1; decreased I(Na) density; shift of the steady-state inactivation towards negative potentials. Ref.77

VAR_055215

Natural variant

1875

1

M → T in atrial fibrillation; pronounced depolarized shift of the voltage dependence of steady-state inactivation; no persistent sodium current. Ref.83

VAR_055216

Natural variant

1904

1

S → L in LQT3; promotes late sodium currents by increasing the propensity of the channel to reopen during prolonged depolarization. Ref.71

VAR_055217

Natural variant

1909

1

Q → R in LQT3. Ref.65

VAR_068340

Natural variant

1924

1

A → T in BRGDA1; significantly affect cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke. Ref.30 Ref.44 Ref.89

VAR_017688

Natural variant

1935

1

G → S in BRGDA1.

VAR_055218

Natural variant

1949

1

A → S in LQT3. Ref.65

VAR_068341

Natural variant

1951

1

V → L in BRGDA1 and LQT3; also found in patients with atrial fibrillation. Ref.47 Ref.79
Corresponds to variant rs41315493 [ dbSNP | Ensembl ].

VAR_026386

Natural variant

1951

1

V → M in ATFB10. Ref.79

VAR_055219

Natural variant

1958

1

R → Q in LQT3. Ref.65

VAR_068342

Natural variant

1968

1

I → S in BRGDA1.

VAR_055220

Natural variant

1987

1

N → K in ATFB10. Ref.80

VAR_065865

Natural variant

2004

1

F → L in LQT3 and BRGDA1; also found in patients with atrial fibrillation; results in channels with decreased peak and persistent current amplitudes; increased closed-state and slow inactivation; decelerated recovery from inactivation. Ref.76 Ref.79
Corresponds to variant rs41311117 [ dbSNP | Ensembl ].

VAR_055221

Natural variant

2006

1

P → A in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation. Ref.91

VAR_055222

Experimental info

Mutagenesis

1476

1

Q → K: Induces accelerated recovery from channel fast inactivation. Ref.13

Mutagenesis

1802 – 1804

3

DPE → APA: Abolishes calcium response on channel inactivation. Ref.19

Mutagenesis

1974

1

P → A: Strongly reduces interaction with NEDD4, NEDD4L or WWP2. Ref.12

Mutagenesis

1975

1

P → A: Strongly reduces interaction with NEDD4, NEDD4L or WWP2. Ref.12

Mutagenesis

1976

1

S → A: Strongly reduces interaction with NEDD4, NEDD4L or WWP2. Ref.12

Mutagenesis

1977

1

Y → A: Strongly reduces interaction with NEDD4, NEDD4L or WWP2. Ref.11 Ref.12

Mutagenesis

1978

1

D → A: No effect on interaction with NEDD4, NEDD4L or WWP2. Ref.12

Mutagenesis

1979

1

S → A: No effect on interaction with NEDD4, NEDD4L or WWP2. Ref.12

Mutagenesis

1980

1

V → A: No effect on interaction with NEDD4, NEDD4L or WWP2. Ref.11 Ref.12

Mutagenesis

1980

1

V → D or R: Strongly reduces interaction with NEDD4L. Ref.11 Ref.12

Sequence conflict

91

1

K → R in ABR15763. Ref.6

Sequence conflict

91

1

K → R in ABR15764. Ref.6

Sequence conflict

96

1

L → P in ABR15763. Ref.6

Sequence conflict

96

1

L → P in ABR15764. Ref.6

Sequence conflict

120

1

I → V in AAA58644. Ref.1

Sequence conflict

162

1

Y → H in ABR15763. Ref.6

Sequence conflict

162

1

Y → H in ABR15764. Ref.6

Sequence conflict

180

1

G → A in AAA58644. Ref.1

Sequence conflict

181

1

F → S in ABR15763. Ref.6

Sequence conflict

181

1

F → S in ABR15764. Ref.6

Sequence conflict

191

1

D → G in BAD12084. Ref.5

Sequence conflict

191

1

D → G in BAD12085. Ref.5

Sequence conflict

191

1

D → G in ABR15763. Ref.6

Sequence conflict

191

1

D → G in ABR15764. Ref.6

Sequence conflict

196

1

L → P in ABR15763. Ref.6

Sequence conflict

196

1

L → P in ABR15764. Ref.6

Sequence conflict

215

1

V → L in BAD12084. Ref.5

Sequence conflict

215

1

V → L in BAD12085. Ref.5

Sequence conflict

215

1

V → L in ABR15763. Ref.6

Sequence conflict

215

1

V → L in ABR15764. Ref.6

Sequence conflict

215

1

V → L in AAI44622. Ref.9

Sequence conflict

215

1

V → L in AAI40814. Ref.9

Sequence conflict

234

1

S → P in BAD12084. Ref.5

Sequence conflict

234

1

S → P in BAD12085. Ref.5

Sequence conflict

234

1

S → P in ABR15763. Ref.6

Sequence conflict

234

1

S → P in ABR15764. Ref.6

Sequence conflict

234

1

S → P in AAI44622. Ref.9

Sequence conflict

234

1

S → P in AAI40814. Ref.9

Sequence conflict

280

1

C → R in ABR15763. Ref.6

Sequence conflict

280

1

C → R in ABR15764. Ref.6

Sequence conflict

290

1

T → I in ABR15763. Ref.6

Sequence conflict

290

1

T → I in ABR15764. Ref.6

Sequence conflict

516

1

S → N in ABR15763. Ref.6

Sequence conflict

516

1

S → N in ABR15764. Ref.6

Sequence conflict

608

1

D → N in ABR15763. Ref.6

Sequence conflict

608

1

D → N in ABR15764. Ref.6

Sequence conflict

618

1

L → I in AAO91669. Ref.4

Sequence conflict

653

1

F → V in BAD12084. Ref.5

Sequence conflict

653

1

F → V in BAD12085. Ref.5

Sequence conflict

918

1

V → G in ABR15763. Ref.6

Sequence conflict

918

1

V → G in ABR15764. Ref.6

Sequence conflict

987

1

Q → H in AAA58644. Ref.1

Sequence conflict

987

1

Q → H in BAD12084. Ref.5

Sequence conflict

987

1

Q → H in BAD12085. Ref.5

Sequence conflict

987

1

Q → H in ABR15763. Ref.6

Sequence conflict

987

1

Q → H in ABR15764. Ref.6

Sequence conflict

1085

1

G → W in AAA58644. Ref.1

Sequence conflict

1085

1

G → W in BAD12084. Ref.5

Sequence conflict

1087

1

E → R in AAA58644. Ref.1

Sequence conflict

1087

1

E → R in BAD12084. Ref.5

Sequence conflict

1088

1

A → G in AAA58644. Ref.1

Sequence conflict

1088

1

A → G in BAD12084. Ref.5

Sequence conflict

1342

1

L → H in ABR15763. Ref.6

Sequence conflict

1342

1

L → H in ABR15764. Ref.6

Sequence conflict

1479

1

K → T in BAD12084. Ref.5

Sequence conflict

1479

1

K → T in BAD12085. Ref.5

Sequence conflict

1480 – 1481

2

LG → IR in ABQ01244. Ref.7

Sequence conflict

1498

1

M → T in BAD12084. Ref.5

Sequence conflict

1498

1

M → T in BAD12085. Ref.5

Sequence conflict

1616

1

F → S in BAD92103. Ref.10

Sequence conflict

1657

1

L → P in ABR15763. Ref.6

Sequence conflict

1657

1

L → P in ABR15764. Ref.6

Sequence conflict

1850

1

C → R in ABR15763. Ref.6

Sequence conflict

1850

1

C → R in ABR15764. Ref.6

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

2016

Helix Strand Turn

Details...

Helix

1491 – 1500

10

Helix

1788 – 1801

14

Beta strand

1807 – 1810

4

Helix

1811 – 1813

3

Helix

1814 – 1820

7

Turn

1823 – 1825

3

Helix

1832 – 1837

6

Beta strand

1841 – 1843

3

Turn

1844 – 1846

3

Beta strand

1847 – 1849

3

Helix

1850 – 1862

13

Helix

1866 – 1882

17

Helix

1886 – 1888

3

Helix

1896 – 1926

31

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: 841E3A365931190B	FASTA	2,016	226,940
	10 20 30 40 50 60 MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 70 80 90 100 110 120 SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 130 140 150 160 170 180 RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 190 200 210 220 230 240 FCLHAFTFLR DPWNWLDFSV IIMAYTTEFV DLGNVSALRT FRVLRALKTI SVISGLKTIV 250 260 270 280 290 300 GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 310 320 330 340 350 360 WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 370 380 390 400 410 420 AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 430 440 450 460 470 480 QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 490 500 510 520 530 540 RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 550 560 570 580 590 600 ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 610 620 630 640 650 660 VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 670 680 690 700 710 720 RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 730 740 750 760 770 780 LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 790 800 810 820 830 840 WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 850 860 870 880 890 900 NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 910 920 930 940 950 960 ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 970 980 990 1000 1010 1020 LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 1030 1040 1050 1060 1070 1080 PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ 1090 1100 1110 1120 1130 1140 PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS 1150 1160 1170 1180 1190 1200 TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH 1210 1220 1230 1240 1250 1260 IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA 1270 1280 1290 1300 1310 1320 YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM 1330 1340 1350 1360 1370 1380 RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN 1390 1400 1410 1420 1430 1440 KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW 1450 1460 1470 1480 1490 1500 EYNLYMYIYF VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK 1510 1520 1530 1540 1550 1560 LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD DQSPEKINIL 1570 1580 1590 1600 1610 1620 AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI LSIVGTVLSD IIQKYFFSPT 1630 1640 1650 1660 1670 1680 LFRVIRLARI GRILRLIRGA KGIRTLLFAL MMSLPALFNI GLLLFLVMFI YSIFGMANFA 1690 1700 1710 1720 1730 1740 YVKWEAGIDD MFNFQTFANS MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG 1750 1760 1770 1780 1790 1800 DCGSPAVGIL FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK 1810 1820 1830 1840 1850 1860 FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC MDILFAFTKR 1870 1880 1890 1900 1910 1920 VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH EEVSAMVIQR AFRRHLLQRS 1930 1940 1950 1960 1970 1980 LKHASFLFRQ QAGSGLSEED APEREGLIAY VMSENFSRPL GPPSSSSISS TSFPPSYDSV 1990 2000 2010 TRATSDNLQV RGSDYSHSED LADFPPSPDR DRESIV
	Isoform 2 [UniParc]. Checksum: D760403C3F90EFD8	FASTA	2,015	226,812
	10 20 30 40 50 60 MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 70 80 90 100 110 120 SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 130 140 150 160 170 180 RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 190 200 210 220 230 240 FCLHAFTFLR DPWNWLDFSV IIMAYTTEFV DLGNVSALRT FRVLRALKTI SVISGLKTIV 250 260 270 280 290 300 GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 310 320 330 340 350 360 WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 370 380 390 400 410 420 AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 430 440 450 460 470 480 QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 490 500 510 520 530 540 RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 550 560 570 580 590 600 ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 610 620 630 640 650 660 VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 670 680 690 700 710 720 RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 730 740 750 760 770 780 LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 790 800 810 820 830 840 WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 850 860 870 880 890 900 NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 910 920 930 940 950 960 ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 970 980 990 1000 1010 1020 LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 1030 1040 1050 1060 1070 1080 PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQESQP 1090 1100 1110 1120 1130 1140 VSGGPEAPPD SRTWSQVSAT ASSEAEASAS QADWRQQWKA EPQAPGCGET PEDSCSEGST 1150 1160 1170 1180 1190 1200 ADMTNTAELL EQIPDLGQDV KDPEDCFTEG CVRRCPCCAV DTTQAPGKVW WRLRKTCYHI 1210 1220 1230 1240 1250 1260 VEHSWFETFI IFMILLSSGA LAFEDIYLEE RKTIKVLLEY ADKMFTYVFV LEMLLKWVAY 1270 1280 1290 1300 1310 1320 GFKKYFTNAW CWLDFLIVDV SLVSLVANTL GFAEMGPIKS LRTLRALRPL RALSRFEGMR 1330 1340 1350 1360 1370 1380 VVVNALVGAI PSIMNVLLVC LIFWLIFSIM GVNLFAGKFG RCINQTEGDL PLNYTIVNNK 1390 1400 1410 1420 1430 1440 SQCESLNLTG ELYWTKVKVN FDNVGAGYLA LLQVATFKGW MDIMYAAVDS RGYEEQPQWE 1450 1460 1470 1480 1490 1500 YNLYMYIYFV IFIIFGSFFT LNLFIGVIID NFNQQKKKLG GQDIFMTEEQ KKYYNAMKKL 1510 1520 1530 1540 1550 1560 GSKKPQKPIP RPLNKYQGFI FDIVTKQAFD VTIMFLICLN MVTMMVETDD QSPEKINILA 1570 1580 1590 1600 1610 1620 KINLLFVAIF TGECIVKLAA LRHYYFTNSW NIFDFVVVIL SIVGTVLSDI IQKYFFSPTL 1630 1640 1650 1660 1670 1680 FRVIRLARIG RILRLIRGAK GIRTLLFALM MSLPALFNIG LLLFLVMFIY SIFGMANFAY 1690 1700 1710 1720 1730 1740 VKWEAGIDDM FNFQTFANSM LCLFQITTSA GWDGLLSPIL NTGPPYCDPT LPNSNGSRGD 1750 1760 1770 1780 1790 1800 CGSPAVGILF FTTYIIISFL IVVNMYIAII LENFSVATEE STEPLSEDDF DMFYEIWEKF 1810 1820 1830 1840 1850 1860 DPEATQFIEY SVLSDFADAL SEPLRIAKPN QISLINMDLP MVSGDRIHCM DILFAFTKRV 1870 1880 1890 1900 1910 1920 LGESGEMDAL KIQMEEKFMA ANPSKISYEP ITTTLRRKHE EVSAMVIQRA FRRHLLQRSL 1930 1940 1950 1960 1970 1980 KHASFLFRQQ AGSGLSEEDA PEREGLIAYV MSENFSRPLG PPSSSSISST SFPPSYDSVT 1990 2000 2010 RATSDNLQVR GSDYSHSEDL ADFPPSPDRD RESIV
	Isoform 3 [UniParc]. Checksum: 03F558B8E4E69834	FASTA	1,983	223,076
	10 20 30 40 50 60 MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 70 80 90 100 110 120 SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 130 140 150 160 170 180 RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 190 200 210 220 230 240 FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNVSALRT FRVLRALKTI SVISGLKTIV 250 260 270 280 290 300 GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 310 320 330 340 350 360 WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 370 380 390 400 410 420 AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 430 440 450 460 470 480 QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 490 500 510 520 530 540 RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 550 560 570 580 590 600 ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 610 620 630 640 650 660 VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 670 680 690 700 710 720 RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 730 740 750 760 770 780 LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 790 800 810 820 830 840 WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 850 860 870 880 890 900 NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 910 920 930 940 950 960 ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 970 980 990 1000 1010 1020 LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 1030 1040 1050 1060 1070 1080 PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQESQP 1090 1100 1110 1120 1130 1140 VSGGPEAPPD SRTWSQVSAT ASSEAEASAS QADWRQQWKA EPQAPGCGET PEDSCSEGST 1150 1160 1170 1180 1190 1200 ADMTNTAELL EQIPDLGQDV KDPEDCFTEG CVRRCPCCAV DTTQAPGKVW WRLRKTCYHI 1210 1220 1230 1240 1250 1260 VEHSWFETFI IFMILLSSGA LAFEDIYLEE RKTIKVLLEY ADKMFTYVFV LEMLLKWVAY 1270 1280 1290 1300 1310 1320 GFKKYFTNAW CWLDFLIVDV SLVSLVANTL GFAEMGPIKS LRTLRALRPL RALSRFEGMR 1330 1340 1350 1360 1370 1380 VVVNALVGAI PSIMNVLLVC LIFWLIFSIM GVNLFAGKFG RCINQTEGDL PLNYTIVNNK 1390 1400 1410 1420 1430 1440 SQCESLNLTG ELYWTKVKVN FDNVGAGYLA LLQVATFKGW MDIMYAAVDS RGYEEQPQWE 1450 1460 1470 1480 1490 1500 YNLYMYIYFV IFIIFGSFFT LNLFIGVIID NFNQQKKKLG GQDIFMTEEQ KKYYNAMKKL 1510 1520 1530 1540 1550 1560 GSKKPQKPIP RPLNKYQGFI FDIVTKQAFD VTIMFLICLN MVTMMVETDD QSPEKINILA 1570 1580 1590 1600 1610 1620 KINLLFVAIF TGTVLSDIIQ KYFFSPTLFR VIRLARIGRI LRLIRGAKGI RTLLFALMMS 1630 1640 1650 1660 1670 1680 LPALFNIGLL LFLVMFIYSI FGMANFAYVK WEAGIDDMFN FQTFANSMLC LFQITTSAGW 1690 1700 1710 1720 1730 1740 DGLLSPILNT GPPYCDPTLP NSNGSRGDCG SPAVGILFFT TYIIISFLIV VNMYIAIILE 1750 1760 1770 1780 1790 1800 NFSVATEEST EPLSEDDFDM FYEIWEKFDP EATQFIEYSV LSDFADALSE PLRIAKPNQI 1810 1820 1830 1840 1850 1860 SLINMDLPMV SGDRIHCMDI LFAFTKRVLG ESGEMDALKI QMEEKFMAAN PSKISYEPIT 1870 1880 1890 1900 1910 1920 TTLRRKHEEV SAMVIQRAFR RHLLQRSLKH ASFLFRQQAG SGLSEEDAPE REGLIAYVMS 1930 1940 1950 1960 1970 1980 ENFSRPLGPP SSSSISSTSF PPSYDSVTRA TSDNLQVRGS DYSHSEDLAD FPPSPDRDRE SIV
	Isoform 4 [UniParc]. Checksum: 488DEFD1D9F93256	FASTA	2,016	226,918
	10 20 30 40 50 60 MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 70 80 90 100 110 120 SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 130 140 150 160 170 180 RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 190 200 210 220 230 240 FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNVSALRT FRVLRALKTI SVISGLKTIV 250 260 270 280 290 300 GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 310 320 330 340 350 360 WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 370 380 390 400 410 420 AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 430 440 450 460 470 480 QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 490 500 510 520 530 540 RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 550 560 570 580 590 600 ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 610 620 630 640 650 660 VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 670 680 690 700 710 720 RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 730 740 750 760 770 780 LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 790 800 810 820 830 840 WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 850 860 870 880 890 900 NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 910 920 930 940 950 960 ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 970 980 990 1000 1010 1020 LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 1030 1040 1050 1060 1070 1080 PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ 1090 1100 1110 1120 1130 1140 PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS 1150 1160 1170 1180 1190 1200 TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH 1210 1220 1230 1240 1250 1260 IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA 1270 1280 1290 1300 1310 1320 YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM 1330 1340 1350 1360 1370 1380 RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN 1390 1400 1410 1420 1430 1440 KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW 1450 1460 1470 1480 1490 1500 EYNLYMYIYF VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK 1510 1520 1530 1540 1550 1560 LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD DQSPEKINIL 1570 1580 1590 1600 1610 1620 AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI LSIVGTVLSD IIQKYFFSPT 1630 1640 1650 1660 1670 1680 LFRVIRLARI GRILRLIRGA KGIRTLLFAL MMSLPALFNI GLLLFLVMFI YSIFGMANFA 1690 1700 1710 1720 1730 1740 YVKWEAGIDD MFNFQTFANS MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG 1750 1760 1770 1780 1790 1800 DCGSPAVGIL FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK 1810 1820 1830 1840 1850 1860 FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC MDILFAFTKR 1870 1880 1890 1900 1910 1920 VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH EEVSAMVIQR AFRRHLLQRS 1930 1940 1950 1960 1970 1980 LKHASFLFRQ QAGSGLSEED APEREGLIAY VMSENFSRPL GPPSSSSISS TSFPPSYDSV 1990 2000 2010 TRATSDNLQV RGSDYSHSED LADFPPSPDR DRESIV
	Isoform 5 [UniParc]. Checksum: F8F9E267F9927F80	FASTA	1,962	221,279
	10 20 30 40 50 60 MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 70 80 90 100 110 120 SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 130 140 150 160 170 180 RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 190 200 210 220 230 240 FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNVSALRT FRVLRALKTI SVISGLKTIV 250 260 270 280 290 300 GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 310 320 330 340 350 360 WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 370 380 390 400 410 420 AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 430 440 450 460 470 480 QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 490 500 510 520 530 540 RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 550 560 570 580 590 600 ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 610 620 630 640 650 660 VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 670 680 690 700 710 720 RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 730 740 750 760 770 780 LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 790 800 810 820 830 840 WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 850 860 870 880 890 900 NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 910 920 930 940 950 960 ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 970 980 990 1000 1010 1020 LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 1030 1040 1050 1060 1070 1080 PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQTPED 1090 1100 1110 1120 1130 1140 SCSEGSTADM TNTAELLEQI PDLGQDVKDP EDCFTEGCVR RCPCCAVDTT QAPGKVWWRL 1150 1160 1170 1180 1190 1200 RKTCYHIVEH SWFETFIIFM ILLSSGALAF EDIYLEERKT IKVLLEYADK MFTYVFVLEM 1210 1220 1230 1240 1250 1260 LLKWVAYGFK KYFTNAWCWL DFLIVDVSLV SLVANTLGFA EMGPIKSLRT LRALRPLRAL 1270 1280 1290 1300 1310 1320 SRFEGMRVVV NALVGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFGRCI NQTEGDLPLN 1330 1340 1350 1360 1370 1380 YTIVNNKSQC ESLNLTGELY WTKVKVNFDN VGAGYLALLQ VATFKGWMDI MYAAVDSRGY 1390 1400 1410 1420 1430 1440 EEQPQWEYNL YMYIYFVIFI IFGSFFTLNL FIGVIIDNFN QQKKKLGGQD IFMTEEQKKY 1450 1460 1470 1480 1490 1500 YNAMKKLGSK KPQKPIPRPL NKYQGFIFDI VTKQAFDVTI MFLICLNMVT MMVETDDQSP 1510 1520 1530 1540 1550 1560 EKINILAKIN LLFVAIFTGE CIVKLAALRH YYFTNSWNIF DFVVVILSIV GTVLSDIIQK 1570 1580 1590 1600 1610 1620 YFFSPTLFRV IRLARIGRIL RLIRGAKGIR TLLFALMMSL PALFNIGLLL FLVMFIYSIF 1630 1640 1650 1660 1670 1680 GMANFAYVKW EAGIDDMFNF QTFANSMLCL FQITTSAGWD GLLSPILNTG PPYCDPTLPN 1690 1700 1710 1720 1730 1740 SNGSRGDCGS PAVGILFFTT YIIISFLIVV NMYIAIILEN FSVATEESTE PLSEDDFDMF 1750 1760 1770 1780 1790 1800 YEIWEKFDPE ATQFIEYSVL SDFADALSEP LRIAKPNQIS LINMDLPMVS GDRIHCMDIL 1810 1820 1830 1840 1850 1860 FAFTKRVLGE SGEMDALKIQ MEEKFMAANP SKISYEPITT TLRRKHEEVS AMVIQRAFRR 1870 1880 1890 1900 1910 1920 HLLQRSLKHA SFLFRQQAGS GLSEEDAPER EGLIAYVMSE NFSRPLGPPS SSSISSTSFP 1930 1940 1950 1960 PSYDSVTRAT SDNLQVRGSD YSHSEDLADF PPSPDRDRES IV
	Isoform 6 [UniParc]. Checksum: C301F1A8375CD3AB	FASTA	1,998	224,917
	10 20 30 40 50 60 MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 70 80 90 100 110 120 SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 130 140 150 160 170 180 RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 190 200 210 220 230 240 FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNVSALRT FRVLRALKTI SVISGLKTIV 250 260 270 280 290 300 GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 310 320 330 340 350 360 WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 370 380 390 400 410 420 AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 430 440 450 460 470 480 QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 490 500 510 520 530 540 RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 550 560 570 580 590 600 ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 610 620 630 640 650 660 VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 670 680 690 700 710 720 RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 730 740 750 760 770 780 LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 790 800 810 820 830 840 WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 850 860 870 880 890 900 NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 910 920 930 940 950 960 ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 970 980 990 1000 1010 1020 LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 1030 1040 1050 1060 1070 1080 PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ 1090 1100 1110 1120 1130 1140 PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS 1150 1160 1170 1180 1190 1200 TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH 1210 1220 1230 1240 1250 1260 IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA 1270 1280 1290 1300 1310 1320 YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM 1330 1340 1350 1360 1370 1380 RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN 1390 1400 1410 1420 1430 1440 KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVYEEQP QWEYNLYMYI YFVIFIIFGS 1450 1460 1470 1480 1490 1500 FFTLNLFIGV IIDNFNQQKK KLGGQDIFMT EEQKKYYNAM KKLGSKKPQK PIPRPLNKYQ 1510 1520 1530 1540 1550 1560 GFIFDIVTKQ AFDVTIMFLI CLNMVTMMVE TDDQSPEKIN ILAKINLLFV AIFTGECIVK 1570 1580 1590 1600 1610 1620 LAALRHYYFT NSWNIFDFVV VILSIVGTVL SDIIQKYFFS PTLFRVIRLA RIGRILRLIR 1630 1640 1650 1660 1670 1680 GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIYSIFGMAN FAYVKWEAGI DDMFNFQTFA 1690 1700 1710 1720 1730 1740 NSMLCLFQIT TSAGWDGLLS PILNTGPPYC DPTLPNSNGS RGDCGSPAVG ILFFTTYIII 1750 1760 1770 1780 1790 1800 SFLIVVNMYI AIILENFSVA TEESTEPLSE DDFDMFYEIW EKFDPEATQF IEYSVLSDFA 1810 1820 1830 1840 1850 1860 DALSEPLRIA KPNQISLINM DLPMVSGDRI HCMDILFAFT KRVLGESGEM DALKIQMEEK 1870 1880 1890 1900 1910 1920 FMAANPSKIS YEPITTTLRR KHEEVSAMVI QRAFRRHLLQ RSLKHASFLF RQQAGSGLSE 1930 1940 1950 1960 1970 1980 EDAPEREGLI AYVMSENFSR PLGPPSSSSI SSTSFPPSYD SVTRATSDNL QVRGSDYSHS 1990 EDLADFPPSP DRDRESIV

References

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[2]	"SCN5A is expressed in human jejunal circular smooth muscle cells." Ou Y., Gibbons S.J., Miller S.M., Strege P.R., Rich A., Distad M.A., Ackerman M.J., Rae J.L., Szurszewski J.H., Farrugia G. Neurogastroenterol. Motil. 14:477-486(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ARG-552. Tissue: Jejunal smooth muscle.
[3]	"A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels." Makielski J.C., Ye B., Valdivia C.R., Pagel M.D., Pu J., Tester D.J., Ackerman M.J. Circ. Res. 93:821-828(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS ARG-558 AND TYR-1103.
[4]	"A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation." Ye B., Valdivia C.R., Ackerman M.J., Makielski J.C. Physiol. Genomics 12:187-193(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ARG-558, CHARACTERIZATION OF VARIANT LQT3 LEU-1766.
[5]	"Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A." Ou S.-W., Kameyama A., Hao L.-Y., Horiuchi M., Minobe E., Wang W.-Y., Makita N., Kameyama M. Eur. J. Neurosci. 22:793-801(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
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[8]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ARG-558.
[10]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 422-2016 (ISOFORMS 3/6). Tissue: Brain.
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[12]	"Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins." Rougier J.-S., van Bemmelen M.X., Bruce M.C., Jespersen T., Gavillet B., Apotheloz F., Cordonier S., Staub O., Rotin D., Abriel H. Am. J. Physiol. 288:C692-C701(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NEDD4; NEDD4L AND WWP2, UBIQUITINATION, MUTAGENESIS OF PRO-1974; PRO-1975; SER-1976; TYR-1977; ASP-1978; SER-1979 AND VAL-1980.
[13]	"Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine." Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M., Strom T.M. Lancet 366:371-377(2005) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF GLN-1476.
[14]	"GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A." Valdivia C.R., Ueda K., Ackerman M.J., Makielski J.C. Am. J. Physiol. 297:H1446-H1452(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GPD1L.
[15]	"Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain." Wang J., Ou S.-W., Wang Y.-J., Kameyama M., Kameyama A., Zong Z.-H. Neurosci. Res. 64:339-347(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY (ISOFORM 4).
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[17]	"Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts." Wang C., Hennessey J.A., Kirkton R.D., Wang C., Graham V., Puranam R.S., Rosenberg P.B., Bursac N., Pitt G.S. Circ. Res. 109:775-782(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FGF13.
[18]	"The cardiac sodium channel is post-translationally modified by arginine methylation." Beltran-Alvarez P., Pagans S., Brugada R. J. Proteome Res. 10:3712-3719(2011) [PubMed] [Europe PMC] [Abstract] Cited for: METHYLATION AT ARG-513; ARG-526 AND ARG-680.
[19]	"Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5." Chagot B., Potet F., Balser J.R., Chazin W.J. J. Biol. Chem. 284:6436-6445(2009) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 1773-1865, FUNCTION, SUBCELLULAR LOCATION, RESPONSE TO CALCIUM, MUTAGENESIS OF 1802-ASP--GLU-1804.
[20]	"Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5." Chagot B., Chazin W.J. J. Mol. Biol. 406:106-119(2011) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 1901-1927 IN COMPLEX WITH CALM, INTERACTION WITH CALM.
[21]	"SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome." Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L., Moss A.J., Towbin J.A., Keating M.T. Cell 80:805-811(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3.
[22]	"Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia." Wang Q., Shen J., Li Z., Timothy K.W., Vincent G.M., Priori S.G., Schwartz P.J., Keating M.T. Hum. Mol. Genet. 4:1603-1607(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3.
[23]	"Molecular mechanism for an inherited cardiac arrhythmia." Bennett P.B., Yazawa K., Makita N., George A.L. Jr. Nature 376:683-685(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 1505-LYS--GLN-1507 DEL.
[24]	"Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits." An R.H., Wang X.L., Kerem B., Benhorin J., Medina A., Goldmit M., Kass R.S. Circ. Res. 83:141-146(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 GLY-1790.
[25]	"A de novo missense mutation of human cardiac Na(+) channel exhibiting novel molecular mechanisms of long QT syndrome." Makita N., Shirai N., Nagashima M., Matsuoka R., Yamada Y., Tohse N., Kitabatake A. FEBS Lett. 423:5-9(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 GLN-1623.
[26]	"Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome." Benhorin J., Goldmit M., Maccluer J.W., Blangero J., Goffen R., Leibovitch A., Rahat A., Wang Q., Medina A., Towbin J.A., Kerem B. Hum. Mutat. 12:72-72(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 GLY-1839.
[27]	"A De Novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome." Yamagishi H., Furutani M., Kamisago M., Morikawa Y., Kojima Y., Hino Y., Furutani Y., Kimura M., Imamura S., Takao A., Momma K., Matsuoka R. Hum. Mutat. 12:481-481(1998) Cited for: VARIANT LQT3 GLN-1623.
[28]	"Genetic basis and molecular mechanism for idiopathic ventricular fibrillation." Chen Q., Kirsch G.E., Zhang D., Brugada R., Brugada J., Brugada P., Potenza D., Moya A., Borggrefe M., Breithardt G., Ortiz-Lopez R., Wang Z., Antzelevitch C., O'Brien R.E., Schulze-Bahr E., Keating M.T., Towbin J.A., Wang Q. Nature 392:293-296(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 TRP-1232 AND MET-1620.
[29]	"Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations." Wattanasirichaigoon D., Vesely M.R., Duggal P., Levine J.C., Blume E.D., Wolff G.S., Edwards S.B., Beggs A.H. Am. J. Med. Genet. 86:470-476(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3 MET-1304 AND MET-1645, VARIANT ASN-1500.
[30]	"Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome." Rook M.B., Bezzina Alshinawi C., Groenewegen W.A., van Gelder I.C., van Ginneken A.C.G., Jongsma H.J., Mannens M.M.A.M., Wilde A.A.M. Cardiovasc. Res. 44:507-517(1999) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS BRGDA1 TRP-1512 AND THR-1924.
[31]	"Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel." Wei J., Wang D.W., Alings M., Fish F., Wathen M., Roden D.M., George A.L. Jr. Circulation 99:3165-3171(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 LYS-1784.
[32]	"Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent." Dumaine R., Towbin J.A., Brugada P., Vatta M., Nesterenko D.V., Nesterenko V.V., Brugada J., Brugada R., Antzelevitch C. Circ. Res. 85:803-809(1999) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT BRGDA1 MET-1620.
[33]	"A single Na(+) channel mutation causing both long-QT and Brugada syndromes." Bezzina C.R., Veldkamp M.W., van Den Berg M.P., Postma A.V., Rook M.B., Viersma J.-W., van Langen I.M., Tan-Sindhunata G., Bink-Boelkens M.T.E., van Der Hout A.H., Mannens M.M.A.M., Wilde A.A.M. Circ. Res. 85:1206-1213(1999) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT LQT3/BRGDA1 ASP-1795 INS.
[34]	"Cardiac conduction defects associate with mutations in SCN5A." Schott J.-J., Alshinawi C., Kyndt F., Probst V., Hoorntje T.M., Hulsbeek M., Wilde A.A.M., Escande D., Mannens M.M.A.M., Le Marec H. Nat. Genet. 23:20-21(1999) [PubMed] [Europe PMC] [Abstract] Cited for: DISEASE.
[35]	"Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit." Makita N., Shirai N., Wang D.W., Sasaki K., George A.L. Jr., Kanno M., Kitabatake A. Circulation 101:54-60(2000) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT BRGDA1 MET-1620.
[36]	"Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2." Splawski I., Shen J., Timothy K.W., Lehmann M.H., Priori S.G., Robinson J.L., Moss A.J., Schwartz P.J., Towbin J.A., Vincent G.M., Keating M.T. Circulation 102:1178-1185(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3 ASN-1114; VAL-1501; LEU-1623; HIS-1644 AND ASN-1787.
[37]	"A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome." Akai J., Makita N., Sakurada H., Shirai N., Ueda K., Kitabatake A., Nakazawa K., Kimura A., Hiraoka M. FEBS Lett. 479:29-34(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT VF1 LEU-1710.
[38]	"A molecular link between the sudden infant death syndrome and the long-QT syndrome." Schwartz P.J., Priori S.G., Dumaine R., Napolitano C., Antzelevitch C., Stramba-Badiale M., Richard T.A., Berti M.R., Bloise R. N. Engl. J. Med. 343:262-267(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 ASN-941.
[39]	"Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel." Abriel H., Cabo C., Wehrens X.H., Rivolta I., Motoike H.K., Memmi M., Napolitano C., Priori S.G., Kass R.S. Circ. Res. 88:740-745(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 LYS-1295, CHARACTERIZATION OF VARIANT LQT3 LYS-1295.
[40]	"Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes." Rivolta I., Abriel H., Tateyama M., Liu H., Memmi M., Vardas P., Napolitano C., Priori S.G., Kass R.S. J. Biol. Chem. 276:30623-30630(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT LQT3 CYS-1795, CHARACTERIZATION OF VARIANT BRGDA1 HIS-1795.
[41]	"Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family." Kyndt F., Probst V., Potet F., Demolombe S., Chevallier J.-C., Baro I., Moisan J.-P., Boisseau P., Schott J.-J., Escande D., Le Marec H. Circulation 104:3081-3086(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SSS1/BRGDA1 ARG-1408.
[42]	"Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome." Ackerman M.J., Siu B.L., Sturner W.Q., Tester D.J., Valdivia C.R., Makielski J.C., Towbin J.A. JAMA 286:2264-2269(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS LQT3 SER-997 AND HIS-1826.
[43]	"A sodium-channel mutation causes isolated cardiac conduction disease." Tan H.L., Bink-Boelkens M.T.E., Bezzina C.R., Viswanathan P.C., Beaufort-Krol G.C.M., van Tintelen P.J., van den Berg M.P., Wilde A.A.M., Balser J.R. Nature 409:1043-1047(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT PFHB1A CYS-514.
[44]	"Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients." Smits J.P.P., Eckardt L., Probst V., Bezzina C.R., Schott J.-J., Remme C.A., Haverkamp W., Breithardt G., Escande D., Schulze-Bahr E., LeMarec H., Wilde A.A.M. J. Am. Coll. Cardiol. 40:350-356(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 LYS-161; CYS-367; LYS-369; ARG-752; LYS-1225; VAL-1319; ILE-1382; LEU-1405; ARG-1406; LYS-1479 DEL; SER-1502; TRP-1512; GLU-1743 AND THR-1924.
[45]	"Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular conduction block." Wang D.W., Viswanathan P.C., Balser J.R., George A.L. Jr., Benson D.W. Circulation 105:341-346(2002) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS PFHB1A SER-298 AND ASN-1595.
[46]	"Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism." Clancy C.E., Rudy Y. Circulation 105:1208-1213(2002) [PubMed] [Europe PMC] [Abstract] Cited for: MODELING OF VARIANT LQT3/BRGDA1 ASP-1795 INS.
[47]	"Natural history of Brugada syndrome: insights for risk stratification and management." Priori S.G., Napolitano C., Gasparini M., Pappone C., Della Bella P., Giordano U., Bloise R., Giustetto C., De Nardis R., Grillo M., Ronchetti E., Faggiano G., Nastoli J. Circulation 105:1342-1347(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 HIS-27; VAL-226; VAL-230; HIS-282; MET-294; SER-319; PHE-393 DEL; GLN-567; PRO-681; GLU-735; LEU-851; ILE-892; SER-896; LEU-910; CYS-965; LYS-1053; ASN-1236; GLN-1240; SER-1293; LYS-1500 DEL; ARG-1740; LYS-1784; HIS-1795 AND LEU-1951.
[48]	"Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes." Yang P., Kanki H., Drolet B., Yang T., Wei J., Viswanathan P.C., Hohnloser S.H., Shimizu W., Schwartz P.J., Stanton M., Murray K.T., Norris K., George A.L. Jr., Roden D.M. Circulation 105:1943-1948(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3 GLU-615; PHE-619 AND LEU-1250, VARIANTS CYS-34 AND ARG-558.
[49]	"Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome." Vatta M., Dumaine R., Varghese G., Richard T.A., Shimizu W., Aihara N., Nademanee K., Brugada R., Brugada J., Veerakul G., Li H., Bowles N.E., Brugada P., Antzelevitch C., Towbin J.A. Hum. Mol. Genet. 11:337-345(2002) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS BRGDA1 HIS-367; VAL-735 AND GLN-1193.
[50]	"SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family." Chen S., Chung M.K., Martin D., Rozich R., Tchou P.J., Wang Q. J. Med. Genet. 39:913-915(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TYR-1103.
[51]	"Novel mutations in domain I of SCN5A cause Brugada syndrome." Vatta M., Dumaine R., Antzelevitch C., Brugada R., Li H., Bowles N.E., Nademanee K., Brugada J., Brugada P., Towbin J.A. Mol. Genet. Metab. 75:317-324(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 GLU-126 AND VAL-351, CHARACTERIZATION OF VARIANT BRGDA1 VAL-351, VARIANT ARG-558.
[52]	"A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction." Rivolta I., Clancy C.E., Tateyama M., Liu H., Priori S.G., Kass R.S. Physiol. Genomics 10:191-197(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 VAL-1768, CHARACTERIZATION OF VARIANT LQT3 VAL-1768.
[53]	"Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia." Splawski I., Timothy K.W., Tateyama M., Clancy C.E., Malhotra A., Beggs A.H., Cappuccio F.P., Sagnella G.A., Kass R.S., Keating M.T. Science 297:1333-1336(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT TYR-1103.
[54]	"A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill." Groenewegen W.A., Firouzi M., Bezzina C.R., Vliex S., van Langen I.M., Sandkuijl L., Smits J.P., Hulsbeek M., Rook M.B., Jongsma H.J., Wilde A.A.M. Circ. Res. 92:14-22(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FAS ASN-1275.
[55]	"Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system." Bezzina C.R., Rook M.B., Groenewegen W.A., Herfst L.J., van der Wal A.C., Lam J., Jongsma H.J., Wilde A.A.M., Mannens M.M. Circ. Res. 92:159-168(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PFHB1A TRP-225.
[56]	"A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating." Wehrens X.H., Rossenbacker T., Jongbloed R.J., Gewillig M., Heidbuchel H., Doevendans P.A., Vos M.A., Wellens H.J., Kass R.S. Hum. Mutat. 21:552-552(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 PHE-619.
[57]	"A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation." Viswanathan P.C., Benson D.W., Balser J.R. J. Clin. Invest. 111:341-346(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PFHB1A ILE-512, CHARACTERIZATION OF VARIANT PFHB1A ILE-512, VARIANT ARG-558, CHARACTERIZATION OF VARIANT ARG-558.
[58]	"Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)." Benson D.W., Wang D.W., Dyment M., Knilans T.K., Fish F.A., Strieper M.J., Rhodes T.H., George A.L. Jr. J. Clin. Invest. 112:1019-1028(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SSS1 ILE-220; LEU-1298 AND ARG-1408.
[59]	"A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs." Valdivia C.R., Tester D.J., Rok B.A., Porter C.B., Munger T.M., Jahangir A., Makielski J.C., Ackerman M.J. Cardiovasc. Res. 62:53-62(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 ARG-1743, CHARACTERIZATION OF VARIANT BRGDA1 ARG-1743.
[60]	"SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia." The familial cardiomyopathy registry research group McNair W.P., Ku L., Taylor M.R.G., Fain P.R., Dao D., Wolfel E., Mestroni L. Circulation 110:2163-2167(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMD1E ASN-1275.
[61]	"Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome." Shin D.-J., Jang Y., Park H.-Y., Lee J.E., Yang K., Kim E., Bae Y., Kim J., Kim J., Kim S.S., Lee M.H., Chahine M., Yoon S.K. J. Hum. Genet. 49:573-578(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 SER-1262.
[62]	"Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes." Mohler P.J., Rivolta I., Napolitano C., LeMaillet G., Lambert S., Priori S.G., Bennett V. Proc. Natl. Acad. Sci. U.S.A. 101:17533-17538(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 LYS-1053, CHARACTERIZATION OF VARIANT BRGDA1 LYS-1053.
[63]	"Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties." Amin A.S., Verkerk A.O., Bhuiyan Z.A., Wilde A.A.M., Tan H.L. Acta Physiol. Scand. 185:291-301(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 GLY-1714, CHARACTERIZATION OF VARIANT BRGDA1 GLY-1714.
[64]	"Double SCN5A mutation underlying asymptomatic Brugada syndrome." Yokoi H., Makita N., Sasaki K., Takagi Y., Okumura Y., Nishino T., Makiyama T., Kitabatake A., Horie M., Watanabe I., Tsutsui H. Heart Rhythm 2:285-292(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 ARG-1527 AND PRO-1569.
[65]	"Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing." Tester D.J., Will M.L., Haglund C.M., Ackerman M.J. Heart Rhythm 2:507-517(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3 TRP-18; LEU-125; LYS-245; GLN-404; LYS-406; MET-411; LYS-462; ASP-572; GLU-615; PHE-618; LEU-637; LEU-648; CYS-971; MET-1069; LYS-1225; LYS-1231; SER-1325; TYR-1458; GLU-1481; 1505-LYS--GLN-1507 DEL; LEU-1623; HIS-1644; ILE-1667; MET-1763; LEU-1766; MET-1777; MET-1779; LYS-1784; CYS-1795; ARG-1909; SER-1949 AND GLN-1958.
[66]	"High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations." Makiyama T., Akao M., Tsuji K., Doi T., Ohno S., Takenaka K., Kobori A., Ninomiya T., Yoshida H., Takano M., Makita N., Yanagisawa F., Higashi Y., Takeyama Y., Kita T., Horie M. J. Am. Coll. Cardiol. 46:2100-2106(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 ILE-187 AND ASN-356, CHARACTERIZATION OF VARIANTS BRGDA1 ILE-187 AND ASN-356.
[67]	"A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation." Keller D.I., Huang H., Zhao J., Frank R., Suarez V., Delacretaz E., Brink M., Osswald S., Schwick N., Chahine M. Cardiovasc. Res. 70:521-529(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 SER-1344, VARIANTS ARG-552 AND GLN-1027.
[68]	"Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome." Cordeiro J.M., Barajas-Martinez H., Hong K., Burashnikov E., Pfeiffer R., Orsino A.M., Wu Y.S., Hu D., Brugada J., Brugada P., Antzelevitch C., Dumaine R., Brugada R. Circulation 114:2026-2033(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 LEU-336 AND VAL-1660, CHARACTERIZATION OF VARIANTS BRGDA1 LEU-336 AND VAL-1660.
[69]	"Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome." Millat G., Chevalier P., Restier-Miron L., Da Costa A., Bouvagnet P., Kugener B., Fayol L., Gonzalez Armengod C., Oddou B., Chanavat V., Froidefond E., Perraudin R., Rousson R., Rodriguez-Lafrasse C. Clin. Genet. 70:214-227(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LQT3 VAL-9; GLN-225; ARG-639; TYR-1333; TRP-1609 AND ASN-1819.
[70]	"Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617." Liang P., Liu W.L., Hu D.Y., Li C.L., Tao W.H., Li L. Zhonghua Xin Xue Guan Bing Za Zhi 34:616-619(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 ILE-95; PHE-1617 DEL AND VAL-1649.
[71]	"A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences." Bankston J.R., Sampson K.J., Kateriya S., Glaaser I.W., Malito D.L., Chung W.K., Kass R.S. Channels 1:273-280(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 LEU-1904, CHARACTERIZATION OF VARIANT LQT3 LEU-1904.
[72]	"A sodium channel pore mutation causing Brugada syndrome." Pfahnl A.E., Viswanathan P.C., Weiss R., Shang L.L., Sanyal S., Shusterman V., Kornblit C., London B., Dudley S.C. Jr. Heart Rhythm 4:46-53(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 ILE-353.
[73]	"A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response." Bankston J.R., Yue M., Chung W., Spyres M., Pass R.H., Silver E., Sampson K.J., Kass R.S. PLoS ONE 2:E1258-E1258(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 CYS-1473.
[74]	"Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome." Tian L., Zhu J.F., Yang J.G. Zhonghua Xin Xue Guan Bing Za Zhi 35:1122-1125(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 ASN-1494.
[75]	"Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel." Zhang Y., Wang T., Ma A., Zhou X., Gui J., Wan H., Shi R., Huang C., Grace A.A., Huang C.L., Trump D., Zhang H., Zimmer T., Lei M. Acta Physiol. 194:311-323(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 CYS-878.
[76]	"Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation." Bebarova M., O'Hara T., Geelen J.L.M.C., Jongbloed R.J., Timmermans C., Arens Y.H., Rodriguez L.-M., Rudy Y., Volders P.G.A. Am. J. Physiol. 295:H48-H58(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 LEU-2004, CHARACTERIZATION OF VARIANT BRGDA1 LEU-2004.
[77]	"Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome." Petitprez S., Jespersen T., Pruvot E., Keller D.I., Corbaz C., Schlapfer J., Abriel H., Kucera J.P. Cardiovasc. Res. 78:494-504(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 SER-1850, CHARACTERIZATION OF VARIANT BRGDA1 SER-1850.
[78]	"Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel." Barajas-Martinez H.M., Hu D., Cordeiro J.M., Wu Y., Kovacs R.J., Meltser H., Kui H., Elena B., Brugada R., Antzelevitch C., Dumaine R. Circ. Res. 103:396-404(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ILE-232 AND PHE-1308.
[79]	"Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation." Darbar D., Kannankeril P.J., Donahue B.S., Kucera G., Stubblefield T., Haines J.L., George A.L. Jr., Roden D.M. Circulation 117:1927-1935(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ATFB10 ILE-138; LYS-428; ASP-445; LYS-470; ASP-572; LYS-655; LYS-1053; ILE-1131; CYS-1826 AND MET-1951, VARIANTS CYS-34; LEU-216; HIS-376; VAL-461; TRP-481; TYR-524; ARG-558; PHE-618; SER-997; TYR-1103; GLN-1193; LEU-1951 AND LEU-2004.
[80]	"Cardiac sodium channel mutation in atrial fibrillation." Ellinor P.T., Nam E.G., Shea M.A., Milan D.J., Ruskin J.N., MacRae C.A. Heart Rhythm 5:99-105(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATFB10 LYS-1987.
[81]	"A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation." Benito B., Brugada R., Perich R.M., Lizotte E., Cinca J., Mont L., Berruezo A., Tolosana J.M., Freixa X., Brugada P., Brugada J. Heart Rhythm 5:1434-1440(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 CYS-1795.
[82]	"In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant." Lin M.-T., Wu M.-H., Chang C.-C., Chiu S.-N., Theriault O., Huang H., Christe G., Ficker E., Chahine M. Heart Rhythm 5:1567-1574(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3 GLN-43, CHARACTERIZATION OF VARIANT LQT3 GLN-43.
[83]	"A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation." Makiyama T., Akao M., Shizuta S., Doi T., Nishiyama K., Oka Y., Ohno S., Nishio Y., Tsuji K., Itoh H., Kimura T., Kita T., Horie M. J. Am. Coll. Cardiol. 52:1326-1334(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATRIAL FIBRILLATION THR-1875, CHARACTERIZATION OF VARIANT ATRIAL FIBRILLATION THR-1875.
[84]	"The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome." Makita N., Behr E., Shimizu W., Horie M., Sunami A., Crotti L., Schulze-Bahr E., Fukuhara S., Mochizuki N., Makiyama T., Itoh H., Christiansen M., McKeown P., Miyamoto K., Kamakura S., Tsutsui H., Schwartz P.J., George A.L. Jr., Roden D.M. J. Clin. Invest. 118:2219-2229(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LQT3/BRGDA1/SSS1 LYS-1784.
[85]	"SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia." Shan L., Makita N., Xing Y., Watanabe S., Futatani T., Ye F., Saito K., Ibuki K., Watanabe K., Hirono K., Uese K., Ichida F., Miyawaki T., Origasa H., Bowles N.E., Towbin J.A. Mol. Genet. Metab. 93:468-474(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-558 AND LEU-1090.
[86]	"Cardiac ion channel gene mutations in sudden infant death syndrome." Otagiri T., Kijima K., Osawa M., Ishii K., Makita N., Matoba R., Umetsu K., Hayasaka K. Pediatr. Res. 64:482-487(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SIDS CYS-532; SER-1084 AND SER-1705, CHARACTERIZATION OF VARIANT SIDS SER-1705.
[87]	"Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy." Saito Y.A., Strege P.R., Tester D.J., Locke G.R. III, Talley N.J., Bernard C.E., Rae J.L., Makielski J.C., Ackerman M.J., Farrugia G. Am. J. Physiol. 296:G211-G218(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT IRRITABLE BOWEL SYNDROME SER-298, CHARACTERIZATION OF VARIANT IRRITABLE BOWEL SYNDROME SER-298.
[88]	"Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome." Huang H., Millat G., Rodriguez-Lafrasse C., Rousson R., Kugener B., Chevalier P., Chahine M. FEBS Lett. 583:890-896(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SIDS TYR-1333.
[89]	"Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies." Meregalli P.G., Tan H.L., Probst V., Koopmann T.T., Tanck M.W., Bhuiyan Z.A., Sacher F., Kyndt F., Schott J.-J., Albuisson J., Mabo P., Bezzina C.R., Le Marec H., Wilde A.A.M. Heart Rhythm 6:341-348(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS BRGDA1 LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743 AND THR-1924, VARIANTS PFHB1A LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743 AND THR-1924.
[90]	"Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations." Hsueh C.H., Chen W.P., Lin J.L., Tsai C.T., Liu Y.B., Juang J.M., Tsao H.M., Su M.J., Lai L.P. J. Biomed. Sci. 16:23-23(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT BRGDA1 CYS-965, CHARACTERIZATION OF VARIANT BRGDA1 CYS-965.
[91]	"A Common SCN5A Polymorphism Modulates the Biophysical Defects of SCN5A Mutations." Shinlapawittayatorn K., Du X.X., Liu H., Ficker E., Kaufman E.S., Deschenes I. Heart Rhythm 8:455-462(2011) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANT LQT3 ALA-2006, CHARACTERIZATION OF VARIANT ARG-558.
[92]	"Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene." Selly J.B., Boumahni B., Edmar A., Jamal Bey K., Randrianaivo H., Clerici G., Millat G., Caillet D. Arch. Pediatr. 19:837-841(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SSS1 VAL-735 AND ASN-1792.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M77235 mRNA. Translation: AAA58644.1.
AY038064 mRNA. Translation: AAK74065.1.
AY148488 mRNA. Translation: AAN61120.1.
AF482988 mRNA. Translation: AAO91669.1.
AB158469 mRNA. Translation: BAD12084.1.
AB158470 mRNA. Translation: BAD12085.1.
EF629346 mRNA. Translation: ABR15763.1.
EF629347 mRNA. Translation: ABR15764.1.
DQ784809 Genomic DNA. Translation: ABQ01244.1.
EF179185 Genomic DNA. Translation: ABN05288.1.
AP006241 Genomic DNA. No translation available.
BC140813 mRNA. Translation: AAI40814.1.
BC144621 mRNA. Translation: AAI44622.1.
AB208866 mRNA. Translation: BAD92103.1.

IPI

IPI00031422.
IPI00377006.
IPI00791220.
IPI00896549.
IPI00930104.
IPI01013301.

PIR

A38195.

RefSeq

NP_000326.2. NM_000335.4.
NP_001092874.1. NM_001099404.1.
NP_001092875.1. NM_001099405.1.
NP_001153632.1. NM_001160160.1.
NP_001153633.1. NM_001160161.1.
NP_932173.1. NM_198056.2.

UniGene

Hs.517898.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2KBI	NMR	-	A	1773-1865	[»]
2L53	NMR	-	B	1901-1927	[»]
4DCK	X-ray	2.20	A	1773-1940	[»]
4DJC	X-ray	1.35	B	1491-1522	[»]

ProteinModelPortal

Q14524.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-38416N.
DIP-46144N.

IntAct

Q14524. 3 interactions.

MINT

MINT-249922.

Protein family/group databases

TCDB

1.A.1.10.3. voltage-gated ion channel (VIC) superfamily.

PTM databases

PhosphoSite

Q14524.

Polymorphism databases

DMDM

215273881.

Proteomic databases

PaxDb

Q14524.

PRIDE

Q14524.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000333535; ENSP00000328968; ENSG00000183873.
ENST00000423572; ENSP00000398266; ENSG00000183873.
ENST00000443581; ENSP00000397915; ENSG00000183873.

GeneID

6331.

KEGG

hsa:6331.

UCSC

uc021wvn.1. human.
uc021wvo.1. human.

Organism-specific databases

CTD

6331.

GeneCards

GC03M038589.

HGNC

HGNC:10593. SCN5A.

MIM

108770. phenotype.
113900. phenotype.
272120. phenotype.
600163. gene.
601144. phenotype.
601154. phenotype.
603829. phenotype.
603830. phenotype.
608567. phenotype.
614022. phenotype.

neXtProt

NX_Q14524.

Orphanet

1344. Atrial cardiomyopathy with heart block.
130. Brugada syndrome.
334. Familial atrial fibrillation.
154. Familial isolated dilated cardiomyopathy.
871. Familial progressive cardiac conduction defect.
228140. Idiopathic ventricular fibrillation, not Brugada type.
101016. Romano-Ward syndrome.
166282. Sick sinus syndrome.

PharmGKB

PA304.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG1226.

HOVERGEN

HBG053100.

InParanoid

Q14524.

KO

K04838.

Enzyme and pathway databases

Reactome

REACT_111045. Developmental Biology.

Gene expression databases

ArrayExpress

Q14524.

Bgee

Q14524.

CleanEx

HS_SCN5A.

Genevestigator

Q14524.

GermOnline

ENSG00000183873. Homo sapiens.

Family and domain databases

InterPro

IPR024583. DUF3451.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR008053. Na_channel_a5su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]

Pfam

PF11933. DUF3451. 1 hit.
PF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]

PRINTS

PR00170. NACHANNEL.
PR01666. NACHANNEL5.

SMART

SM00015. IQ. 1 hit.
[Graphical view]

PROSITE

PS50096. IQ. False negative.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q14524.

ChEMBL

CHEMBL1980.

DrugBank

DB00868. Benzonatate.
DB01244. Bepridil.
DB00564. Carbamazepine.
DB00907. Cocaine.
DB00527. Dibucaine.
DB00280. Disopyramide.
DB01228. Encainide.
DB00754. Ethotoin.
DB01195. Flecainide.
DB01320. Fosphenytoin.
DB00473. Hexylcaine.
DB00192. Indecainide.
DB00555. Lamotrigine.
DB00281. Lidocaine.
DB00532. Mephenytoin.
DB00379. Mexiletine.
DB01388. Mibefradil.
DB00680. Moricizine.
DB00776. Oxcarbazepine.
DB00252. Phenytoin.
DB00750. Prilocaine.
DB01035. Procainamide.
DB01182. Propafenone.
DB00908. Quinidine.
DB00740. Riluzole.
DB01056. Tocainide.
DB00661. Verapamil.

EvolutionaryTrace

Q14524.

GenomeRNAi

6331.

NextBio

24578.

SOURCE

Search...

Entry information

Entry name

SCN5A_HUMAN

Accession

Primary (citable) accession number: Q14524
Secondary accession number(s): A5H1P8 , A6N922, A6N923, B2RTU0, E9PEF3, E9PEK2, E9PFW7, Q59H93, Q75RX9, Q75RY0, Q86UR3, Q8IZC9, Q96J69

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	November 25, 2008
Last modified:	May 1, 2013
This is version 146 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.