| Variant ID | 8836 |
|---|---|
| Entrez Gene ID | 27430 |
| Gene | MAT2B (GeneCards) |
| Location | hg19 5:163778106-163778106
hg38 5:164351100-164351100 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.163778106 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1817 |
| CADD Raw score (version 1.3) | -0.258018 (Deleterious) |
| FATHMM raw prediction score | 0.12262 (Tolerated) |
| Deleterious probability by DeFine | 0.7597 (Deleterious) |
| Entrez Gene ID | 27430 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAT2B (GeneCards) |
| Number of variants in MAT2B in this database | 17 (view all the variants) |
| Full name | methionine adenosyltransferase 2B |
| Band | 5q34 |
| Other IDs | Vega: OTTHUMG00000130379 OMIM: 605527 HGNC: HGNC:6905 Ensembl: ENSG00000038274 |
| Other names | TGR, MAT-II, SDR23E1, MATIIbeta, Nbla02999 |
| Summary | The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |