PPM1D (Protein phosphatase 1D) variants and mutations

PPM1D (also known as Protein phosphatase 1D) is a human protein-coding gene encoding a protein phosphatase 1D protein. It turns off DNA-damage signaling by dephosphorylating p53-pathway and checkpoint proteins after cellular stress. Truncating mutations that stabilize the protein occur in clonal hematopoiesis and cancer and can confer a selective advantage after genotoxic therapy. This analysis covers 1,302 PPM1D variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes intellectual developmental disorder with gastrointestinal difficulties and high, hereditary disease, and neurodegenerative disease. Example PPM1D variants include A2T, A2P, and A2S.

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 PPM1D variants

Examples include A2T, A2P, A2S, A2E, A2V, A2A, G3R, G3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.