| Variant ID | 1031 |
|---|---|
| Entrez Gene ID | 80213 |
| Gene | TM2D3 (GeneCards) |
| Location | hg19 15:102185350-102185350
hg38 15:101645147-101645147 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.102185350 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 173 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3921 |
| CADD Raw score (version 1.3) | 1.952043 (Deleterious) |
| FATHMM raw prediction score | 0.96398 (Tolerated) |
| SIFT score | 0.671 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.42 (Tolerated) |
| PROVEAN score | -1.04 (Tolerated) |
| MetaSVM score | -1.063 (Tolerated) |
| MetaLR score | 0.107 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.257 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.911 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.098 |
| Deleterious probability by iFish2 | 0.0297 (Neutral) |
| Deleterious probability by DeFine | 0.7867 (Deleterious) |
| Entrez Gene ID | 80213 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TM2D3 (GeneCards) |
| Number of variants in TM2D3 in this database | 1 (view all the variants) |
| Full name | TM2 domain containing 3 |
| Band | 15q26.3 |
| Other IDs | Vega: OTTHUMG00000149872 OMIM: 610014 HGNC: HGNC:24128 Ensembl: ENSG00000184277 |
| Other names | BLP2 |
| Summary | The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008] |
| 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; |