| Variant ID | 29676 |
|---|---|
| Entrez Gene ID | 4353 |
| Gene | MPO (GeneCards) |
| Location | hg19 17:56356401-56356401
hg38 17:58279040-58279040 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.56356401 A>C (Genome Assembly: hg19) |
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2959 |
| CADD Raw score (version 1.3) | 5.459189 (Deleterious) |
| FATHMM raw prediction score | 0.9878 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.52 (Deleterious) |
| PROVEAN score | -10.53 (Deleterious) |
| MetaSVM score | -0.25 (Tolerated) |
| MetaLR score | 0.393 (Tolerated) |
| MCAP score | 0.199 (Deleterious) |
| FitCons score | 0.598 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.105 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.535 |
| Deleterious probability by iFish2 | 0.974 (Deleterious) |
| Deleterious probability by DeFine | 0.98 (Deleterious) |
| Entrez Gene ID | 4353 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MPO (GeneCards) |
| Number of variants in MPO in this database | 1 (view all the variants) |
| Full name | myeloperoxidase |
| Band | 17q22 |
| Other IDs | Vega: OTTHUMG00000178922 OMIM: 606989 HGNC: HGNC:7218 Ensembl: ENSG00000005381 |
| Other names | None |
| Summary | Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014] |
| Individual ID | 28714951.352 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |