| Variant ID | 1063 |
|---|---|
| Entrez Gene ID | 55613 |
| Gene | MTMR8 (GeneCards) |
| Location | hg19 X:63548677-63548677
hg38 X:64328797-64328797 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.63548677 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 486 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 5.787335 (Deleterious) |
| FATHMM raw prediction score | 0.86347 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.113 |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 3.625 (Deleterious) |
| PROVEAN score | -6.45 (Deleterious) |
| MetaSVM score | 0.375 (Deleterious) |
| MetaLR score | 0.579 (Deleterious) |
| MCAP score | 0.065 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.76 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.236 |
| Deleterious probability by iFish2 | 0.8847 (Deleterious) |
| Deleterious probability by DeFine | 0.7835 (Deleterious) |
| Entrez Gene ID | 55613 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MTMR8 (GeneCards) |
| Number of variants in MTMR8 in this database | 5 (view all the variants) |
| Full name | myotubularin related protein 8 |
| Band | Xq11.2 |
| Other IDs | Vega: OTTHUMG00000021707 HGNC: HGNC:16825 Ensembl: ENSG00000102043 |
| Other names | None |
| Summary | This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010] |
| 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; |