| Variant ID | 29443 |
|---|---|
| Entrez Gene ID | 210 |
| Gene | ALAD (GeneCards) |
| Location | hg19 9:116151738-116151738
hg38 9:113389458-113389458 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.116151738 C>T (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0415 |
| CADD Raw score (version 1.3) | 2.938404 (Deleterious) |
| FATHMM raw prediction score | 0.95423 (Tolerated) |
| SIFT score | 0.182 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.71 (Deleterious) |
| PROVEAN score | -2.36 (Tolerated) |
| MetaSVM score | 0.104 (Deleterious) |
| MetaLR score | 0.659 (Deleterious) |
| MCAP score | 0.118 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.447 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.976 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.858 |
| Deleterious probability by iFish2 | 0.2356 (Neutral) |
| Deleterious probability by DeFine | 0.9301 (Deleterious) |
| Entrez Gene ID | 210 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALAD (GeneCards) |
| Number of variants in ALAD in this database | 2 (view all the variants) |
| Full name | aminolevulinate dehydratase |
| Band | 9q32 |
| Other IDs | Vega: OTTHUMG00000020522 OMIM: 125270 HGNC: HGNC:395 Ensembl: ENSG00000148218 |
| Other names | PBGS, ALADH |
| Summary | The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
| Individual ID | 28714951.119 (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; |