| Variant ID | 1454 |
|---|---|
| Entrez Gene ID | 2475 |
| Gene | MTOR (GeneCards) |
| Location | hg19 1:11217231-11217231
hg38 1:11157174-11157174 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| Method | HiSeq 2000 HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.11217231 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1483 |
| Amino acid changes in protein | C > R |
| Position in cDNA | 4447 |
| Changes in cDNA | T > C |
| mRNA accession | NM_004958.3 |
| mRNA length | 8733 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3747775 |
| Variant occurences in COSMIC | 1(kidney)|1(central_nervous_system) |
| EIGEN score | 0.8531 |
| CADD Raw score (version 1.3) | 6.149305 (Deleterious) |
| FATHMM raw prediction score | 0.9897 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.425 (Deleterious) |
| PROVEAN score | -10.44 (Deleterious) |
| MetaSVM score | 0.199 (Deleterious) |
| MetaLR score | 0.495 (Tolerated) |
| MCAP score | 0.804 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.32 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.907 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.281 |
| Deleterious probability by iFish2 | 0.9983 (Deleterious) |
| Deleterious probability by DeFine | 0.9662 (Deleterious) |
| Entrez Gene ID | 2475 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MTOR (GeneCards) |
| Number of variants in MTOR in this database | 21 (view all the variants) |
| Full name | mechanistic target of rapamycin kinase |
| Band | 1p36.22 |
| Other IDs | Vega: OTTHUMG00000002001 OMIM: 601231 HGNC: HGNC:3942 Ensembl: ENSG00000198793 |
| Other names | SKS, FRAP, FRAP1, FRAP2, RAFT1, RAPT1 |
| Summary | The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008] |
| Individual ID | 28864461.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28864461 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| OMIM ID | 611223 |
| Pubmed ID | 28864461 |
|---|---|
| Title | Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. |
| Journal | Cold Spring Harbor Molecular Case Studies |
| Publication date | 2017.09 |
| Disease | Hemimegalencephaly |
| Population | European |
| Number of cases | Female cases: 1; |