| Variant ID | 29252 |
|---|---|
| Entrez Gene ID | 7915 |
| Gene | ALDH5A1 (GeneCards) |
| Location | hg19 6:24505151-24505151
hg38 6:24504923-24504923 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.24505151 G>A (Genome Assembly: GRCh37) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8782 |
| CADD Raw score (version 1.3) | 5.986336 (Deleterious) |
| FATHMM raw prediction score | 0.94849 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.765 (Deleterious) |
| PROVEAN score | -5.67 (Deleterious) |
| MetaSVM score | 0.995 (Deleterious) |
| MetaLR score | 0.988 (Deleterious) |
| MCAP score | 0.488 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.5 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.796 |
| Deleterious probability by iFish2 | 0.4536 (Neutral) |
| Deleterious probability by DeFine | 0.9519 (Deleterious) |
| Entrez Gene ID | 7915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALDH5A1 (GeneCards) |
| Number of variants in ALDH5A1 in this database | 2 (view all the variants) |
| Full name | aldehyde dehydrogenase 5 family member A1 |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000014356 OMIM: 610045 HGNC: HGNC:408 Ensembl: ENSG00000112294 |
| Other names | SSDH, SSADH |
| Summary | This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.129 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |