PLAT (P00750) variants and mutations

PLAT (also known as P00750) is a human protein-coding gene encoding a tissue-type plasminogen activator protein. It converts plasminogen to plasmin preferentially on fibrin surfaces, promoting breakdown of established blood clots. Recombinant tissue plasminogen activator is used therapeutically for selected acute ischemic strokes and thrombotic emergencies, balanced against bleeding risk. This analysis covers 966 PLAT variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes pulmonary embolism, myocardial infarction, and hemorrhage. Example PLAT variants include D2H, D2N, and M4T.

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 PLAT variants

Examples include D2H, D2N, M4T, K5*, R6G, R6K, R6T, G7A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.