| Variant ID | 1396 |
|---|---|
| Entrez Gene ID | 3717 |
| Gene | JAK2 (GeneCards) |
| Location | hg19 9:5070017-5070017
hg38 9:5070017-5070017 |
| Disease | Polycythaemia Vera (view all the variants in this disease) |
| Method | Sequencing |
| Mutation(HGVS format) | NC_000009.11:g.5070017 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 12 |
| Position in protein | 535 |
| Amino acid changes in protein | M > I |
| Position in cDNA | 1605 |
| Changes in cDNA | G > T |
| mRNA accession | NM_001322194.1 |
| mRNA length | 5386 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4218 |
| CADD Raw score (version 1.3) | 3.146288 (Deleterious) |
| FATHMM raw prediction score | 0.98973 (Tolerated) |
| SIFT score | 0.087 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.47 (Deleterious) |
| PROVEAN score | -0.75 (Tolerated) |
| MetaSVM score | -1.03 (Tolerated) |
| MetaLR score | 0.079 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.55 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.733 |
| Deleterious probability by iFish2 | 0.8918 (Deleterious) |
| Deleterious probability by DeFine | 0.9595 (Deleterious) |
| Entrez Gene ID | 3717 (NCBI Gene) |
|---|---|
| Official Gene Symbol | JAK2 (GeneCards) |
| Number of variants in JAK2 in this database | 15 (view all the variants) |
| Full name | Janus kinase 2 |
| Band | 9p24.1 |
| Other IDs | Vega: OTTHUMG00000019490 OMIM: 147796 HGNC: HGNC:6192 Ensembl: ENSG00000096968 |
| Other names | JTK10, THCYT3 |
| Summary | This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008] |
| Individual ID | 29021147.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29021147 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Polycythaemia Vera (view all the variants in this disease) |
| OMIM ID | 263300 |
| Pubmed ID | 29021147 |
|---|---|
| Title | Atypical haematological presentation in a case of polycythaemia vera with a new variant mutation detected in exon 12: c.1605G>T (p.Met535Ile). |
| Journal | Journal of Clinical Pathology |
| Publication date | 2018.02 |
| Disease | Polycythaemia Vera |
| Population | Caucasian |
| Number of cases | Female cases: 1; |