A NOVEL POINT MUTATION (VAL 297-]MET) IN THE SERINE PROTEINASE DOMAINOF PROTEIN-C IN A PATIENT WITH BOTH VENOUS AND ARTERIAL THROMBOEMBOLIC DISEASE

A novel heterozygous GTG-->ATG (Val 297-->Met) substitution was detect ed in an individual with probable inherited protein C deficiency and b oth venous and arterial thrombotic disease. The lesion occurs in a hig hly conserved residue within the serine protease domain. In a molecula r model of protein C, Met 297 makes unfavourable interactions with nei ghbouring residues suggesting that the mutant protein is unable to ado pt a stable/functional conformation.