| Variant ID | 7512 |
|---|---|
| Entrez Gene ID | 501 |
| Gene | ALDH7A1 (GeneCards) |
| Location | hg19 5:125898885-125898885
hg38 5:126563193-126563193 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.125898885 C>T (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) | 0.0000323 |
|---|---|
| EIGEN score | -0.2138 |
| CADD Raw score (version 1.3) | -0.032837 (Deleterious) |
| FATHMM raw prediction score | 0.06657 (Tolerated) |
| Deleterious probability by DeFine | 0.1436 (Neutral) |
| Entrez Gene ID | 501 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALDH7A1 (GeneCards) |
| Number of variants in ALDH7A1 in this database | 1 (view all the variants) |
| Full name | aldehyde dehydrogenase 7 family member A1 |
| Band | 5q23.2 |
| Other IDs | Vega: OTTHUMG00000128942 OMIM: 107323 HGNC: HGNC:877 Ensembl: ENSG00000164904 |
| Other names | EPD, PDE, ATQ1 |
| Summary | The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011] |
| 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; |