CASP9 (Caspase-9) variants and mutations

CASP9 (also known as Caspase-9) is a human protein-coding gene encoding a caspase-9 protein. It initiates the mitochondrial apoptotic cascade after recruitment to the apoptosome, activating executioner caspases such as caspase-3. Disruption can alter developmental cell death and cancer-cell sensitivity to stress, with rare germline variants linked to developmental phenotypes. This analysis covers 760 CASP9 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes neurodegenerative disease, gout, and non-small cell lung carcinoma. Example CASP9 variants include D2N, E3K, and A4V.

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, MaveDB, LitVar.

Notable CASP9 variants

Examples include D2N, E3K, A4V, D5A, D5H, D5N, D5V, D5Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.