| Variant ID | 29180 |
|---|---|
| Entrez Gene ID | 50831 |
| Gene | TAS2R3 (GeneCards) |
| Location | hg19 7:141464483-141464483
hg38 7:141764683-141764683 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.141464483 G>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9806 |
| CADD Raw score (version 1.3) | 1.919985 (Deleterious) |
| FATHMM raw prediction score | 0.03776 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.482 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.975 (Tolerated) |
| PROVEAN score | -1.95 (Tolerated) |
| MetaSVM score | -0.914 (Tolerated) |
| MetaLR score | 0.003 (Tolerated) |
| MCAP score | 0.038 (Deleterious) |
| FitCons score | 0.716 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.342 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.53 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.248 |
| Deleterious probability by iFish2 | 0.0626 (Neutral) |
| Deleterious probability by DeFine | 0.6654 (Deleterious) |
| Entrez Gene ID | 50831 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TAS2R3 (GeneCards) |
| Number of variants in TAS2R3 in this database | 1 (view all the variants) |
| Full name | taste 2 receptor member 3 |
| Band | 7q34 |
| Other IDs | Vega: OTTHUMG00000157637 OMIM: 604868 HGNC: HGNC:14910 Ensembl: ENSG00000127362 |
| Other names | T2R3 |
| Summary | This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.57 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |