CD40LG (CD40 ligand) variants and mutations

CD40LG (also known as CD40 ligand) is a human protein-coding gene encoding a CD40 ligand protein. It is displayed by activated CD4 T cells and engages CD40 on B cells and antigen-presenting cells to drive class switching and effective adaptive immunity. Loss-of-function variants cause X-linked hyper-IgM syndrome, with impaired immunoglobulin class switching and opportunistic infections. This analysis covers 462 CD40LG variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes hyper-IgM syndrome type 1, X-linked hyper-IgM syndrome, and hyper-IgM syndrome. Example CD40LG variants include I2I, E3K, and T4T.

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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CD40LG variants

Examples include I2I, E3K, T4T, Y5*, Y5C, Y5H, Y5Y, N6K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.