Information on MALT1
Basic details
Alt. symbols: MLT | PCASP1
Approved name: MALT1 paracaspase
Alt. names: mucosa associated lymphoid tissue lymphoma translocation gene 1 | MALT1 protease, paracaspase 1
Location: 18q21.32: 58671465 - 58754477 (+)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.492000 | pLI: 0.99414458 | LOEUF: 0.300
Normal function
Dysfunction and disease
Immunodeficiency 12 [MIM:615468] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD12 |
Immunodeficiency 12 | AR |
615468 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of MALT1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 208 | ENST00000649217.2 | 1 | CCDS11967 | Select | protein_coding | 17 | Yes | 9289 | NM_006785 |
| 210 | ENST00000650045.1 | nonsense_mediated_decay | No | 3312 | XM_011525794 | ||||
| 201 | ENST00000345724.7 | CCDS11968 | protein_coding | 16 | No | 2866 | NM_173844 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in MALT1
| ID | Year | Title | Journal | PMID | Variants |
|---|