The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

  • Regulation of heart rate
  • Cardiac ventricle development
  • Brainstem development
  • Ion transport
  • Sodium ion transport

  • Sudden infant death syndrome
  • Long qt syndrome 3
  • Brugada syndrome 1
  • Cardiomyopathy, dilated, 1e
  • Sick sinus syndrome 1

  • Dilated Cardiomyopathy
  • Brugada Syndrome
  • Familial Atrial Fibrillation

Based on Ayass Bioscience, LLC Data Analysis

SCN5A (sodium voltage-gated channel alpha subunit 5) – BioGPS

Interacting Proteins for SCN5A Gene – String

Emw. Structure of the SCN5A protein. Based on PyMOL rendering of PDB 1byy.

Gene Location

Pathogenic Prevalence

% 0.306435137895812

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.102145045965271

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

A=0.000012(3/242066,GnomAD_exome)
A=0.000048(6/125568,TOPMED)
A=0.00001(1/70176,ExAC)
A=0.00010(3/31406,GnomAD)
A=0.00008(1/12328,GO-ESP)
A=0.0000(0/8580,ALFAProject)

T=0.000016(2/125568,TOPMED)
T=0.00006(2/31386,GnomAD)
T=0.0000(0/2188,ALFAProject

⊙ A=0.000178(44/247644,GnomAD_exome)
⊙ A=0.000271(34/125568,TOPMED)
A=0.000225(24/106676,ExAC)
A=0.00036(34/94986,ALFAProject)
A=0.00003(2/78692,PAGE_STUDY)
A=0.00006(2/31386,GnomAD)
A=0.00040(5/12644,GO-ESP)
A=0.0002(1/5008,1000G)
A=0.0003(1/3854,ALSPAC)
A=0.0005(2/3708,TWINSUK)

A=0.000045(11/245204,GnomAD_exome)
A=0.000040(5/125568,TOPMED)
A=0.000070(8/113650,ExAC)
A=0.00006(2/31394,GnomAD)
A=0.00006(1/17562,ALFAProject)

T=0.000005(1/212734,GnomAD_exome)
C=0.000008(1/125568,TOPMED)
T=0.00000(0/46384,ExAC)
C=0.00003(1/31400,GnomAD)
C=0.0000(0/3854,ALSPAC)
C=0.0003(1/3708,TWINSUK)
C=0.0000(0/2188,ALFAProject)

High/Med VUS Variants

T=0.000109(27/248810,GnomAD_exome)
T=0.000104(13/125568,TOPMED)
T=0.000100(12/120162,ExAC)
T=0.00003(1/31400,GnomAD)
T=0.0000(0/3854,ALSPAC)
T=0.0003(1/3708,TWINSUK)
T=0.0000(0/2188,ALFAProject)
T=0.002(1/534,MGP)

A=0.000072(9/125568,TOPMED)
A=0.00003(1/31388,GnomAD)
A=0.00008(1/12616,GO-ESP)
A=0.0000(0/2188,ALFAProject)
G=0.000(0/328,HapMap)