Scn5a - SNV Details



 Human Rare Diseases 
Romano-Ward syndrome
Sick sinus syndrome
Idiopathic ventricular fibrillation, not Brugada type
Familial progressive cardiac conduction defect
Familial atrial fibrillation
Familial isolated dilated cardiomyopathy
Brugada syndrome
Atrial cardiomyopathy with heart block

 Gene Information 
Gene Name Scn5a
Gene Description sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]
MGI phenotype Mice homozygous for mutations in this gene die prenatally usually during organogenesis. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.
Uniprot Name
CCDS Name
Gene GO
membrane depolarization during cardiac muscle cell action potential; voltage-gated sodium channel activity involved in SA node cell action potential; regulation of ion transmembrane transport; membrane; voltage-gated sodium channel activity involved in cardiac muscle cell action potential; sodium ion transmembrane transport; voltage-gated sodium channel activity; regulation of heart rate by cardiac conduction; neuronal action potential; sodium channel complex; T-tubule; protein binding; cell surface; integral component of membrane; regulation of cardiac muscle cell contraction; scaffold protein binding; ion channel activity; intercalated disc; response to organic cyclic compound; calmodulin binding; ion transport; cellular response to calcium ion; transmembrane transport; plasma membrane; membrane depolarization during SA node cell action potential; cardiac ventricle development; sodium ion transport; voltage-gated sodium channel complex
Homolog in other species SCN5A
Omim http://omim.org/entry/600163
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN(HIGH IN MEDIALOLFACTORYEPITHELIUM.MOE.)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032511
Chromosome 9
Coordinate 119,522,566     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
A:R0.50
T:V0.50
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL03188
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved