Scn1a - SNV Details



 Human Rare Diseases 
Lennox-Gastaut syndrome
Generalized epilepsy with febrile seizures-plus context
Epilepsy with myoclonic-astatic seizures
Familial or sporadic hemiplegic migraine
Malignant migrating partial seizures of infancy
Dravet syndrome

 Gene Information 
Gene Name Scn1a
Gene Description sodium channel, voltage-gated, type I, alpha [Source:MGI Symbol;Acc:MGI:98246]
MGI phenotype Mice homozygous for a knock-out allele exhibit postnatal lethality, seizures, and abnormal behavior. Mice heterozygous for a knock-out allele exhibit premature death and seizures associated with abnormal nervous system electrophysiology.
Uniprot Name
CCDS Name
Gene GO
regulation of ion transmembrane transport; neuromuscular process controlling posture; neuronal action potential propagation; membrane; axon initial segment; sodium ion transmembrane transport; voltage-gated sodium channel activity; neuronal action potential; sodium channel complex; T-tubule; neuronal cell body; node of Ranvier; axon; ion channel activity; intercalated disc; Z disc; adult walking behavior; ion transport; action potential; transmembrane transport; regulation of membrane potential; membrane depolarization during action potential; sodium ion transport; voltage-gated sodium channel complex
Homolog in other species SCN1A
Omim http://omim.org/entry/182389
Immgen Expression
LOW
Gnf Expression
MEDIAN
MEDIAN(HIGH IN NS GROUP)
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000064329
Chromosome 2
Coordinate 66,318,077     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 57
Allele Frequency
A:R0.54
T:V0.46
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02740
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 62 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved