| Variant ID | 8989 |
|---|---|
| Entrez Gene ID | 2940 |
| Gene | GSTA3 (GeneCards) |
| Location | hg19 6:52836167-52836167
hg38 6:52971369-52971369 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.52836167 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1027 |
| CADD Raw score (version 1.3) | -0.111167 (Deleterious) |
| FATHMM raw prediction score | 0.16271 (Tolerated) |
| Deleterious probability by DeFine | 0.3956 (Neutral) |
| Entrez Gene ID | 2940 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GSTA3 (GeneCards) |
| Number of variants in GSTA3 in this database | 3 (view all the variants) |
| Full name | glutathione S-transferase alpha 3 |
| Band | 6p12.2 |
| Other IDs | Vega: OTTHUMG00000014865 OMIM: 605449 HGNC: HGNC:4628 Ensembl: ENSG00000174156 |
| Other names | GTA3, GSTA3-3 |
| Summary | Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |