| Variant ID | 32509 |
|---|---|
| Entrez Gene ID | 2913 |
| Gene | GRM3 (GeneCards) |
| Location | hg19 7:86416144-86416144
hg38 7:86786828-86786828 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000007.13:g.86416144 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 346 |
| Amino acid changes in protein | H > N |
| Position in cDNA | 1036 |
| Changes in cDNA | C > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0963 |
| CADD Raw score (version 1.3) | 2.258366 (Deleterious) |
| FATHMM raw prediction score | 0.84862 (Tolerated) |
| SIFT score | 0.043 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 1.08 (Tolerated) |
| PROVEAN score | -0.44 (Tolerated) |
| MetaSVM score | -0.332 (Tolerated) |
| MetaLR score | 0.442 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.05 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.986 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.604 |
| Deleterious probability by iFish2 | 0.1503 (Neutral) |
| Deleterious probability by DeFine | 0.9292 (Deleterious) |
| Entrez Gene ID | 2913 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRM3 (GeneCards) |
| Number of variants in GRM3 in this database | 87 (view all the variants) |
| Full name | glutamate metabotropic receptor 3 |
| Band | 7q21.11-q21.12 |
| Other IDs | Vega: OTTHUMG00000022884 OMIM: 601115 HGNC: HGNC:4595 Ensembl: ENSG00000198822 |
| Other names | GLUR3, mGl3, GPRC1C, MGLUR3 |
| Summary | L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |