| Variant ID | 29134 |
|---|---|
| Entrez Gene ID | 2891 |
| Gene | GRIA2 (GeneCards) |
| Location | hg19 4:158262484-158262484
hg38 4:157341332-157341332 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000004.11:g.158262484 C>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0346 |
| CADD Raw score (version 1.3) | 6.807826 (Deleterious) |
| FATHMM raw prediction score | 0.97792 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.65 (Deleterious) |
| PROVEAN score | -5.26 (Deleterious) |
| MetaSVM score | 0.3 (Deleterious) |
| MetaLR score | 0.543 (Deleterious) |
| MCAP score | 0.139 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.824 |
| Deleterious probability by iFish2 | 0.5345 (Deleterious) |
| Deleterious probability by DeFine | 0.949 (Deleterious) |
| Entrez Gene ID | 2891 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRIA2 (GeneCards) |
| Number of variants in GRIA2 in this database | 3 (view all the variants) |
| Full name | glutamate ionotropic receptor AMPA type subunit 2 |
| Band | 4q32.1 |
| Other IDs | Vega: OTTHUMG00000133836 OMIM: 138247 HGNC: HGNC:4572 Ensembl: ENSG00000120251 |
| Other names | GLUR2, GLURB, GlA2, HBGR2, GlR-K2 |
| Summary | Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.11 (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; |