| Variant ID | 931 |
|---|---|
| Entrez Gene ID | 6712 |
| Gene | SPTBN2 (GeneCards) |
| Location | hg19 11:66468535-66468535
hg38 11:66701064-66701064 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.66468535 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1012 |
| Amino acid changes in protein | A > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5211 |
| CADD Raw score (version 1.3) | 2.255342 (Deleterious) |
| FATHMM raw prediction score | 0.33736 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.003 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -1.22 (Tolerated) |
| MetaSVM score | -1.062 (Tolerated) |
| MetaLR score | 0.06 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.609 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.221 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.599 |
| Deleterious probability by iFish2 | 0.1563 (Neutral) |
| Deleterious probability by DeFine | 0.9656 (Deleterious) |
| Entrez Gene ID | 6712 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPTBN2 (GeneCards) |
| Number of variants in SPTBN2 in this database | 3 (view all the variants) |
| Full name | spectrin beta, non-erythrocytic 2 |
| Band | 11q13.2 |
| Other IDs | Vega: OTTHUMG00000167262 OMIM: 604985 HGNC: HGNC:11276 Ensembl: ENSG00000173898 |
| Other names | SCA5, SCAR14, GTRAP41 |
| Summary | Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] |
| Individual ID | 27788131.02 (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; |