Protein Variants | Comment | Organism |
---|---|---|
D187H | mutation identified in a patient with pregnancy-onset thrombotic thrombocytopenic purpura. Mutation is located in the high affinity Ca2+-binding site in the metalloprotease domain of ADAMTS13. The homozygous mutation down-regulates ADAMTS13 activity in vitro. Impaired proteolytic activity is linked to unstable Ca2+ binding. In addition, the D187H mutation affects protein secretion in vitro | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q76LX8 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | - |
Homo sapiens | - |
General Information | Comment | Organism |
---|---|---|
physiological function | in Adamts13-/- mice, the transfection with homozygous mutant D187H leads to reduced ADAMTS13 secretion and activity and contributes to thrombotic thrombocytopenic purpura when these mice are triggered with recombinant human von Willebrand factor | Homo sapiens |