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Blood Coagul Fibrinolysis. 1993 Aug;4(4):631-3.

A novel point mutation (Val 297-->Met) in the serine proteinase domain of protein C in a patient with both venous and arterial thromboembolic disease.

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Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.


A novel heterozygous GTG-->ATG (Val 297-->Met) substitution was detected in an individual with probable inherited protein C deficiency and both venous and arterial thrombotic disease. The lesion occurs in a highly conserved residue within the serine protease domain. In a molecular model of protein C, Met 297 makes unfavourable interactions with neighbouring residues suggesting that the mutant protein is unable to adopt a stable/functional conformation.

[Indexed for MEDLINE]

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