| Variant ID | 92 |
|---|---|
| Entrez Gene ID | 10000 |
| Gene | AKT3 (GeneCards) |
| Location | hg19 1:243859016-243859016
hg38 1:243695714-243695714 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000001.10:g.243859016 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 17 |
| Amino acid changes in protein | E > K |
| Position in cDNA | 49 |
| Changes in cDNA | G > A |
| mRNA accession | NM_181690.2 |
| mRNA length | 1398 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1134860 |
| Variant occurences in COSMIC | 1(NS)|1(kidney)|2(skin) |
| EIGEN score | 0.7677 |
| CADD Raw score (version 1.3) | 6.453702 (Deleterious) |
| FATHMM raw prediction score | 0.97752 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.615 (Deleterious) |
| PROVEAN score | -3.74 (Deleterious) |
| MetaSVM score | -0.64 (Tolerated) |
| MetaLR score | 0.22 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.644 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.75 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.904 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.884 |
| Deleterious probability by iFish2 | 0.9724 (Deleterious) |
| Deleterious probability by DeFine | 0.9576 (Deleterious) |
| 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 | 23101622.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 23101622 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Hemimegalencephaly (view all the variants in this disease) |
| OMIM ID | 611223 |
| Pubmed ID | 23101622 |
|---|---|
| Title | Single Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain |
| Journal | Cell |
| Publication date | 2012.01 |
| Disease | Hemimegalencephaly |
| Number of cases | cases of unknown sex: 1; |