| Variant ID | 14709 |
|---|---|
| Entrez Gene ID | 23590 |
| Gene | PDSS1 (GeneCards) |
| Location | hg19 10:26995027-26995027
hg38 10:26706098-26706098 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.26995027 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2913 |
| CADD Raw score (version 1.3) | -0.035085 (Deleterious) |
| FATHMM raw prediction score | 0.12036 (Tolerated) |
| Deleterious probability by DeFine | 0.5274 (Deleterious) |
| Entrez Gene ID | 23590 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDSS1 (GeneCards) |
| Number of variants in PDSS1 in this database | 1 (view all the variants) |
| Full name | decaprenyl diphosphate synthase subunit 1 |
| Band | 10p12.1 |
| Other IDs | Vega: OTTHUMG00000017844 OMIM: 607429 HGNC: HGNC:17759 Ensembl: ENSG00000148459 |
| Other names | DPS, SPS, TPT, COQ1, TPRT, TPT1, hDPS1, COQ10D2 |
| Summary | The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |