| Variant ID | 1494 |
|---|---|
| Entrez Gene ID | 55066 |
| Gene | PDPR (GeneCards) |
| Location | hg19 16:70190680-70190680
hg38 16:70156777-70156777 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000016.9:g.70190680_70190680 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001322117.1 |
| mRNA length | 9206 |
| Reference length | 90354753 |
| Deleterious probability by DeFine | 0.9411 (Deleterious) |
|---|
| Entrez Gene ID | 55066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDPR (GeneCards) |
| Number of variants in PDPR in this database | 4 (view all the variants) |
| Full name | pyruvate dehydrogenase phosphatase regulatory subunit |
| Band | 16q22.1 |
| Other IDs | Vega: OTTHUMG00000176963 OMIM: 617835 HGNC: HGNC:30264 Ensembl: ENSG00000090857 |
| Other names | PDP3 |
| Summary | Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017] |
| Individual ID | 28867142.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |