MYD88 (Q99836) variants and mutations

MYD88 (also known as Q99836) is a human protein-coding gene encoding a myeloid differentiation primary response protein. It relays signals from most Toll-like receptors and IL-1-family receptors to NF-kappaB and other inflammatory pathways. Loss-of-function variants impair innate immune defense, while the recurrent L265P gain-of-function variant drives several B-cell malignancies. This analysis covers 1,230 MYD88 variants and mutations. Of these, 42% have computational variant effect predictions. Disease context includes pyogenic bacterial infections due to MyD88 deficiency, B-cell chronic lymphocytic leukemia, and diffuse large B-cell lymphoma. Example MYD88 variants include A2T, A2S, and A3T.

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, MaveDB, LitVar.

Notable MYD88 variants

Examples include A2T, A2S, A3T, A3V, A3A, G4R, G4V, G5D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.