| Variant ID | 19264 |
|---|---|
| Entrez Gene ID | 5604 |
| Gene | MAP2K1 (GeneCards) |
| Location | hg19 15:66769817-66769817
hg38 15:66477479-66477479 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.66769817 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0061 |
| CADD Raw score (version 1.3) | 0.183318 (Deleterious) |
| FATHMM raw prediction score | 0.12365 (Tolerated) |
| Deleterious probability by DeFine | 0.4588 (Neutral) |
| Entrez Gene ID | 5604 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP2K1 (GeneCards) |
| Number of variants in MAP2K1 in this database | 24 (view all the variants) |
| Full name | mitogen-activated protein kinase kinase 1 |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000133196 OMIM: 176872 HGNC: HGNC:6840 Ensembl: ENSG00000169032 |
| Other names | CFC3, MEK1, MKK1, MAPKK1, PRKMK1 |
| Summary | The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |