| Variant ID | 20257 |
|---|---|
| Entrez Gene ID | 498 |
| Gene | ATP5A1 (GeneCards) |
| Location | hg19 18:43671281-43671281
hg38 18:46091315-46091315 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.43671281 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.0012 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs186102449 |
| EIGEN score | -0.227 |
| CADD Raw score (version 1.3) | 0.126253 (Deleterious) |
| FATHMM raw prediction score | 0.09002 (Tolerated) |
| Deleterious probability by DeFine | 0.3422 (Neutral) |
| Entrez Gene ID | 498 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP5A1 (GeneCards) |
| Number of variants in ATP5F1A in this database | 3 (view all the variants) |
| Full name | ATP synthase F1 subunit alpha |
| Band | 18q21.1 |
| Other IDs | Vega: OTTHUMG00000132637 OMIM: 164360 HGNC: HGNC:823 Ensembl: ENSG00000152234 |
| Other names | OMR, ORM, ATPM, MOM2, ATP5A, hATP1, ATP5A1, MC5DN4, ATP5AL2, COXPD22, HEL-S-123m |
| Summary | This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] |
| Individual ID | 29217584.05 (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; |