| Variant ID | 445 |
|---|---|
| Entrez Gene ID | 6323 |
| Gene | SCN1A (GeneCards) |
| Location | hg19 2:166901591-166901591
hg38 2:166045081-166045081 |
| Disease | Severe myoclonic epilepsy of infancy (view all the variants in this disease) |
| Method | TaqMAMA |
| Mutation(HGVS format) | NC_000002.11:g.166901591 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 10 |
| Position in protein | 542 |
| Amino acid changes in protein | R > Z |
| Position in cDNA | 1624 |
| Changes in cDNA | C > T |
| mRNA accession | NM_001202435.1 |
| mRNA length | 6030 |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1264980 |
| Variant occurences in COSMIC | 1(oesophagus) |
| EIGEN score | -0.162 |
| CADD Raw score (version 1.3) | 6.224617 (Deleterious) |
| FATHMM raw prediction score | 0.95144 (Tolerated) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.56 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.05 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.218 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.979 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 21.227 |
| Deleterious probability by DeFine | 0.8045 (Deleterious) |
| Entrez Gene ID | 6323 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCN1A (GeneCards) |
| Number of variants in SCN1A in this database | 187 (view all the variants) |
| Full name | sodium voltage-gated channel alpha subunit 1 |
| Band | 2q24.3 |
| Other IDs | Vega: OTTHUMG00000044173 OMIM: 182389 HGNC: HGNC:10585 Ensembl: ENSG00000144285 |
| Other names | FEB3, FHM3, NAC1, SCN1, SMEI, EIEE6, FEB3A, HBSCI, GEFSP2, Nav1.1 |
| Summary | Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015] |
| Individual ID | 16541393.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 16541393 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Severe myoclonic epilepsy of infancy (view all the variants in this disease) |
| OMIM ID | 607208 |
| Pubmed ID | 16541393 |
|---|---|
| Title | Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy |
| Journal | Human Mutation |
| Publication date | 2006.04 |
| Disease | Severe myoclonic epilepsy of infancy |
| Number of cases | Male cases: 1; Female cases: 1; |