| Variant ID | 853 |
|---|---|
| Entrez Gene ID | 11280 |
| Gene | SCN11A (GeneCards) |
| Location | hg19 3:38889002-38889002
hg38 3:38847511-38847511 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.38889002 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1520 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1692587 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | -0.0802 |
| CADD Raw score (version 1.3) | 3.538749 (Deleterious) |
| FATHMM raw prediction score | 0.93848 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 0.549 (Deleterious) |
| MutatioinAssessor score | 2.71 (Deleterious) |
| PROVEAN score | -3.21 (Deleterious) |
| MetaSVM score | 0.886 (Deleterious) |
| MetaLR score | 0.856 (Deleterious) |
| MCAP score | 0.254 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.298 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.081 |
| Deleterious probability by iFish2 | 0.5612 (Deleterious) |
| Deleterious probability by DeFine | 0.938 (Deleterious) |
| Entrez Gene ID | 11280 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCN11A (GeneCards) |
| Number of variants in SCN11A in this database | 76 (view all the variants) |
| Full name | sodium voltage-gated channel alpha subunit 11 |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000048246 OMIM: 604385 HGNC: HGNC:10583 Ensembl: ENSG00000168356 |
| Other names | NaN, PN5, FEPS3, HSAN7, SNS-2, NAV1.9, SCN12A |
| Summary | Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |