| Variant ID | 29258 |
|---|---|
| Entrez Gene ID | 154796 |
| Gene | AMOT (GeneCards) |
| Location | hg19 X:112021879-112021879
hg38 X:112778651-112778651 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000023.10:g.112021879 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.270293 (Deleterious) |
| FATHMM raw prediction score | 0.97615 (Tolerated) |
| Deleterious probability by DeFine | 0.9431 (Deleterious) |
| Entrez Gene ID | 154796 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AMOT (GeneCards) |
| Number of variants in AMOT in this database | 2 (view all the variants) |
| Full name | angiomotin |
| Band | Xq23 |
| Other IDs | Vega: OTTHUMG00000022216 OMIM: 300410 HGNC: HGNC:17810 Ensembl: ENSG00000126016 |
| Other names | None |
| Summary | This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.135 (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; |