| Variant ID | 29556 |
|---|---|
| Entrez Gene ID | 10892 |
| Gene | MALT1 (GeneCards) |
| Location | hg19 18:56390408-56390408
hg38 18:58723176-58723176 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000018.9:g.56390408 C>T (Genome Assembly: hg19) |
| 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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5605 |
| CADD Raw score (version 1.3) | 1.105852 (Deleterious) |
| FATHMM raw prediction score | 0.28745 (Tolerated) |
| Deleterious probability by DeFine | 0.7324 (Deleterious) |
| Entrez Gene ID | 10892 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MALT1 (GeneCards) |
| Number of variants in MALT1 in this database | 3 (view all the variants) |
| Full name | MALT1 paracaspase |
| Band | 18q21.32 |
| Other IDs | Vega: OTTHUMG00000132761 OMIM: 604860 HGNC: HGNC:6819 Ensembl: ENSG00000172175 |
| Other names | MLT, MLT1, IMD12, PCASP1 |
| Summary | This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018] |
| Individual ID | 28714951.232 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |