| Variant ID | 1190 |
|---|---|
| Entrez Gene ID | 695 |
| Gene | BTK (GeneCards) |
| Location | hg19 X:100615139-100615139
hg38 X:101360151-101360151 |
| Disease | Multiple Sclerosis (view all the variants in this disease) |
| Method | sequencing |
| Mutation(HGVS format) | NC_000023.10:g.100615139 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 | NM_001287344.1 |
| mRNA length | 2767 |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 4.451631 (Deleterious) |
| FATHMM raw prediction score | 0.99473 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.334 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.987 |
| Deleterious probability by DeFine | 0.9586 (Deleterious) |
| Entrez Gene ID | 695 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BTK (GeneCards) |
| Number of variants in BTK in this database | 3 (view all the variants) |
| Full name | Bruton tyrosine kinase |
| Band | Xq22.1 |
| Other IDs | Vega: OTTHUMG00000022022 OMIM: 300300 HGNC: HGNC:1133 Ensembl: ENSG00000010671 |
| Other names | AT, ATK, BPK, XLA, IMD1, AGMX1, PSCTK1 |
| Summary | The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] |
| Individual ID | 27932211.06 (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; |