ADAMTS13 (Q76LX8) variants and mutations

ADAMTS13 (also known as Q76LX8) is a human protein-coding gene encoding an a disintegrin and metalloproteinase with thrombospondin motifs 13 protein. It cleaves ultra-large von Willebrand factor multimers in the circulation, preventing excessive platelet adhesion in small vessels. Severe inherited deficiency or inhibitory autoantibodies cause thrombotic thrombocytopenic purpura, characterized by microvascular thrombosis, thrombocytopenia, and hemolytic anemia. This analysis covers 1,947 ADAMTS13 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes congenital thrombotic thrombocytopenic purpura, thrombotic thrombocytopenic purpura, and Thrombocytopenia. Example ADAMTS13 variants include H2Y, H2R, and H2H.

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 ADAMTS13 variants

Examples include H2Y, H2R, H2H, Q3K, Q3R, R4C, R4H, H5Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.