| Variant ID | 1521 |
|---|---|
| Entrez Gene ID | 10935 |
| Gene | PRDX3 (GeneCards) |
| Location | hg19 10:120933327-120933327
hg38 10:119173815-119173815 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.120933327_120933327 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_014098.3 |
| mRNA length | 1583 |
| Reference length | 135534747 |
| Deleterious probability by DeFine | 0.9224 (Deleterious) |
|---|
| Entrez Gene ID | 10935 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRDX3 (GeneCards) |
| Number of variants in PRDX3 in this database | 2 (view all the variants) |
| Full name | peroxiredoxin 3 |
| Band | 10q26.11 |
| Other IDs | Vega: OTTHUMG00000019146 OMIM: 604769 HGNC: HGNC:9354 Ensembl: ENSG00000165672 |
| Other names | AOP1, MER5, AOP-1, SP-22, HBC189, PRO1748, prx-III |
| Summary | This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014] |
| Individual ID | 28867142.55 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |