| Variant ID | 1545 |
|---|---|
| Entrez Gene ID | 6774 |
| Gene | STAT3 (GeneCards) |
| Location | hg19 17:40474420-40474420
hg38 17:42322402-42322402 |
| Disease | Multiple Sclerosis (view all the variants in this disease) |
| Method | sequencing |
| Mutation(HGVS format) | NC_000017.10:g.40474420_40474420 del (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 661 |
| Amino acid changes in protein | D > Y |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_003150.3 |
| mRNA length | 4953 |
| Reference length | 81195210 |
| Deleterious probability by DeFine | 0.9234 (Deleterious) |
|---|
| Entrez Gene ID | 6774 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STAT3 (GeneCards) |
| Number of variants in STAT3 in this database | 9 (view all the variants) |
| Full name | signal transducer and activator of transcription 3 |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000150645 OMIM: 102582 HGNC: HGNC:11364 Ensembl: ENSG00000168610 |
| Other names | APRF, HIES, ADMIO, ADMIO1 |
| Summary | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015] |
| Individual ID | 27932211.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27932211 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Multiple Sclerosis (view all the variants in this disease) |
| OMIM ID | 126200 |
| Pubmed ID | 27932211 |
|---|---|
| Title | A novel class of somatic mutations in blood detected preferentially in CD8+ cells. |
| Journal | Clinical Immunology |
| Publication date | 2017.02 |
| Disease | Multiple Sclerosis;neurological autoimmune disease |
| Number of cases | Male cases: 4; Female cases: 8; |