PML (Protein PML) variants and mutations

PML (also known as Protein PML) is a human protein-coding gene encoding a protein. It organizes PML nuclear bodies that regulate transcription, DNA-damage responses, senescence, apoptosis, and antiviral defense. Fusion of PML with RARA blocks myeloid differentiation in acute promyelocytic leukemia and creates a disease that is highly responsive to differentiation and arsenic-based therapy. This analysis covers 1,384 PML variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes thyroid gland carcinoma, uterine corpus leiomyoma, and viral infectious disease. Example PML variants include E2K, E2*, and E2D.

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 PML variants

Examples include E2K, E2*, E2D, E2E, P3T, P3S, P3H, P3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.