3 NOVEL PROC GENE LESIONS CAUSING PROTEIN-C DEFICIENCY

Missense mutations, three of them novel (Asn210 --> Val, Asn248 --> Il e, Ala355 --> Va)). were found in the protein C (PROC) genes of 7 pati ents with inherited protein C deficiency associated with venous thromb osis. Comparison with the phenotypic effects of mutations in the analo gous residues of factor IX causing haemophilia B and the use of molecu lar modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C mol ecules encoded.