| Variant ID | 1567 |
|---|---|
| Entrez Gene ID | 7248 |
| Gene | TSC1 (GeneCards) |
| Location | hg19 9:135802635-135802635
hg38 9:132927248-132927248 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000009.11:g.135802635 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 3 |
| Position in protein | 55 |
| Amino acid changes in protein | Q > * |
| Position in cDNA | 163 |
| Changes in cDNA | C > T |
| mRNA accession | NM_000368.4 |
| mRNA length | 8626 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs118203343 |
| EIGEN score | 0.8387 |
| CADD Raw score (version 1.3) | 8.947691 (Deleterious) |
| FATHMM raw prediction score | 0.97924 (Tolerated) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.032 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.341 |
| Deleterious probability by DeFine | 0.9407 (Deleterious) |
| Entrez Gene ID | 7248 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSC1 (GeneCards) |
| Number of variants in TSC1 in this database | 6 (view all the variants) |
| Full name | TSC complex subunit 1 |
| Band | 9q34.13 |
| Other IDs | Vega: OTTHUMG00000020844 OMIM: 605284 HGNC: HGNC:12362 Ensembl: ENSG00000165699 |
| Other names | LAM, TSC |
| Summary | This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018] |
| Individual ID | 29281825.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29281825 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| OMIM ID | 607341 |
| Pubmed ID | 29281825 |
|---|---|
| Title | Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. |
| Journal | Cell Reports |
| Publication date | 2017.12 |
| Disease | Hemimegalencephaly;Focal Cortical Dysplasias |
| Number of cases | Male cases: 7; Female cases: 7; |