| Variant ID | 29939 |
|---|---|
| Entrez Gene ID | 26164 |
| Gene | MTG2 (GeneCards) |
| Location | hg19 20:60772988-60772988
hg38 20:62197932-62197932 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000020.10:g.60772988 T>A (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 | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0489 |
| CADD Raw score (version 1.3) | 3.637619 (Deleterious) |
| FATHMM raw prediction score | 0.95666 (Tolerated) |
| SIFT score | 0.05 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.55 (Tolerated) |
| PROVEAN score | -7.96 (Deleterious) |
| MetaSVM score | -1.123 (Tolerated) |
| MetaLR score | 0.062 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.565 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.912 |
| Deleterious probability by iFish2 | 0.2602 (Neutral) |
| Deleterious probability by DeFine | 0.9672 (Deleterious) |
| Entrez Gene ID | 26164 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MTG2 (GeneCards) |
| Number of variants in MTG2 in this database | 2 (view all the variants) |
| Full name | mitochondrial ribosome associated GTPase 2 |
| Band | 20q13.33 |
| Other IDs | Vega: OTTHUMG00000032897 OMIM: 610919 HGNC: HGNC:16239 Ensembl: ENSG00000101181 |
| Other names | ObgH1, GTPBP5, dJ1005F21.2 |
| Summary | Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28867142.24 (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; |