CARD9 (Q9H257) variants and mutations

CARD9 (also known as Q9H257) is a human protein-coding gene encoding a caspase recruitment domain-containing protein 9 protein. It couples fungal and other innate immune receptors to NF-kappaB and inflammatory signaling in myeloid cells. Biallelic loss-of-function variants cause profound susceptibility to invasive and mucocutaneous fungal infections. This analysis covers 953 CARD9 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes Chronic mucocutaneous candidosis, inflammatory bowel disease, and Crohn disease. Example CARD9 variants include S2L, D3E, and Y4*.

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 CARD9 variants

Examples include S2L, D3E, Y4*, Y4D, Y4H, E5K, D7N, D8E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.