| Variant ID | 1164 |
|---|---|
| Entrez Gene ID | 10000 |
| Gene | AKT3 (GeneCards) |
| Location | hg19 1:105246551-105246551
hg38 1:104703929-104703929 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000001.10: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_005465.4 |
| mRNA length | 7091 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6486 |
| CADD Raw score (version 1.3) | -0.542721 (Deleterious) |
| FATHMM raw prediction score | 0.04171 (Tolerated) |
| Deleterious probability by DeFine | 0.0579 (Neutral) |
| Entrez Gene ID | 10000 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AKT3 (GeneCards) |
| Number of variants in AKT3 in this database | 4 (view all the variants) |
| Full name | AKT serine/threonine kinase 3 |
| Band | 1q43-q44 |
| Other IDs | Vega: OTTHUMG00000039994 OMIM: 611223 HGNC: HGNC:393 Ensembl: ENSG00000117020 |
| Other names | MPPH, PKBG, MPPH2, PRKBG, STK-2, PKB-GAMMA, RAC-gamma, RAC-PK-gamma |
| Summary | The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 29281825.02 (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; |