| Variant ID | 1433 |
|---|---|
| Entrez Gene ID | 5604 |
| Gene | MAP2K1 (GeneCards) |
| Location | hg19 15:66727455-66727455
hg38 15:66435117-66435117 |
| Disease | Arteriovenous Malformation (view all the variants in this disease) |
| Method | Illumina platforms? |
| Mutation(HGVS format) | NC_000015.9:g.66727455 G>T (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 57 |
| Amino acid changes in protein | K > N |
| Position in cDNA | 171 |
| Changes in cDNA | G > T |
| mRNA accession | NM_002755.3 |
| mRNA length | 2603 |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1235478 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue)|1(liver)|1(skin)|1(lung)|2(large_intestine) |
| EIGEN score | 0.361 |
| CADD Raw score (version 1.3) | 5.724602 (Deleterious) |
| FATHMM raw prediction score | 0.90521 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.72 (Deleterious) |
| PROVEAN score | -4.49 (Deleterious) |
| MetaSVM score | 0.657 (Deleterious) |
| MetaLR score | 0.844 (Deleterious) |
| MCAP score | 0.511 (Deleterious) |
| FitCons score | 0.737 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.536 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.164 |
| Deleterious probability by iFish2 | 0.5923 (Deleterious) |
| Deleterious probability by DeFine | 0.9223 (Deleterious) |
| 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 | 28190454.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28190454 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Arteriovenous Malformation (view all the variants in this disease) |
| OMIM ID | 108010 |
| Pubmed ID | 28190454 |
|---|---|
| Title | Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.03 |
| Disease | Arteriovenous Malformation |
| Number of cases | Male cases: 11; Female cases: 5; |