| Variant ID | 29395 |
|---|---|
| Entrez Gene ID | 125 |
| Gene | ADH1B (GeneCards) |
| Location | hg19 4:100237436-100237436
hg38 4:99316279-99316279 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.100237436 T>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7269 |
| CADD Raw score (version 1.3) | 2.668662 (Deleterious) |
| FATHMM raw prediction score | 0.02635 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0.219 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.145 (Tolerated) |
| PROVEAN score | -2.01 (Tolerated) |
| MetaSVM score | -0.945 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.645 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 2.806 |
| Deleterious probability by iFish2 | 0.0005 (Neutral) |
| Deleterious probability by DeFine | 0.5464 (Deleterious) |
| Entrez Gene ID | 125 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADH1B (GeneCards) |
| Number of variants in ADH1B in this database | 1 (view all the variants) |
| Full name | alcohol dehydrogenase 1B (class I), beta polypeptide |
| Band | 4q23 |
| Other IDs | Vega: OTTHUMG00000161413 OMIM: 103720 HGNC: HGNC:250 Ensembl: ENSG00000196616 |
| Other names | ADH2, HEL-S-117 |
| Summary | The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] |
| Individual ID | 28714951.71 (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; |