| Variant ID | 1163 |
|---|---|
| Entrez Gene ID | 207 |
| Gene | AKT1 (GeneCards) |
| Location | hg19 14:105246551-105246551
hg38 14:104780214-104780214 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000014.8:g.105246551 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | 17 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001014432.1 |
| mRNA length | 2878 |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs121434592 |
| Variant IDs in COSMIC (version 89) | 33765 |
| Variant occurences in COSMIC | 1(salivary_gland)|34(breast)|1(NS)|2(stomach)|4(haematopoietic_and_lymphoid_tissue)|1(soft_tissue)|3(urinary_tract)|1(pancreas)|1(skin)|8(prostate)|4(lung)|2(thyroid)|2(cervix)|3(meninges)|9(large_intestine)|1(biliary_tract)|5(endometrium) |
| EIGEN score | 0.5812 |
| CADD Raw score (version 1.3) | 6.533865 (Deleterious) |
| FATHMM raw prediction score | 0.99513 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.47 (Deleterious) |
| PROVEAN score | -3.68 (Deleterious) |
| MetaSVM score | -0.641 (Tolerated) |
| MetaLR score | 0.222 (Tolerated) |
| MCAP score | 0.276 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.61 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.811 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.176 |
| Deleterious probability by iFish2 | 0.3398 (Neutral) |
| Deleterious probability by DeFine | 0.9522 (Deleterious) |
| Entrez Gene ID | 207 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AKT1 (GeneCards) |
| Number of variants in AKT1 in this database | 39 (view all the variants) |
| Full name | AKT serine/threonine kinase 1 |
| Band | 14q32.33 |
| Other IDs | Vega: OTTHUMG00000170795 OMIM: 164730 HGNC: HGNC:391 Ensembl: ENSG00000142208 |
| Other names | AKT, PKB, RAC, CWS6, PRKBA, PKB-ALPHA, RAC-ALPHA |
| Summary | The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011] |
| Individual ID | 29281825.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29281825 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| OMIM ID | 604364 |
| 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; |