Crystal structure and enzymatic activity of an ADAMTS‐13 mutant with the East Asian‐specific P475S polymorphism

Background An East Asian-specific P475S polymorphism in the gene encoding ADAMTS-13 causes an approximately 16% reduction in plasma ADAMTS-13 activity. Objectives To demonstrate the impact of this dysfunctional polymorphism by characterizing the structure and activity of the P475S mutant protein. Methods We determined the crystal structure of the P475S mutant of ADAMTS-13-DTCS (DTCS-P475S, residues 287–685) and compared it with the wild-type...