MALT1 (Q9UDY8) variants and mutations

MALT1 (also known as Q9UDY8) is a human protein-coding gene encoding a mucosa-associated lymphoid tissue lymphoma translocation protein 1 protein. It provides both scaffold and protease functions in antigen-receptor signaling, enabling NF-kappaB activation downstream of the CARD11-BCL10 complex. Biallelic loss-of-function variants cause combined immunodeficiency, while constitutive MALT1 signaling contributes to selected lymphomas. This analysis covers 1,074 MALT1 variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes combined immunodeficiency due to MALT1 deficiency, severe combined immunodeficiency, and combined immunodeficiency. Example MALT1 variants include S2A, S2*, and S2L.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable MALT1 variants

Examples include S2A, S2*, S2L, S2S, L3V, L3L, L3M, L3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.