Variant ID | 8896 |
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Entrez Gene ID | 27430 |
Gene | MAT2B (GeneCards) |
Location | hg19 5:163843038-163843038
hg38 5:164416032-164416032 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000005.9:g.163843038 T>A (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | 0.0458 |
CADD Raw score (version 1.3) | 1.556354 (Deleterious) |
FATHMM raw prediction score | 0.40612 (Tolerated) |
Deleterious probability by DeFine | 0.0587 (Neutral) |
Entrez Gene ID | 27430 (NCBI Gene) |
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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 | 29217584.24 (view all the variants in this individual) |
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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 |
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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; |