Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 -> Ser) in the substrate-binding pocket

Marchetti, G., Patracchini, P., Gemmati, D., Castaman, G., Rodeghiero, F., Wacey, A., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Tuddenham, E. G. D. and Bernardi, F. 1993. Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 -> Ser) in the substrate-binding pocket. British Journal of Haematology 84 (2) , pp. 285-289. 10.1111/j.1365-2141.1993.tb03066.x

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Abstract

A patient with recurrent deep vein thrombosis and heterozygous type II deficiency, characterized by reduced protein C activity in both amidolytic and clotting functional assays, was investigated by direct sequencing of PCR fragments derived from the coding portion of the protein C gene. A G (8856) to A transition was noted in the patient which was not present in healthy controls. This mutation is predicted to cause the substitution of Ser for Gly 381, an evolutionarily conserved residue in the substrate binding pocket of serine-proteases (Gly 216, chymotrypsin numbering). A computer model of the structure of the serine-protease domain indicates that the properties of the altered protein C molecule can be explained on the basis of steric hindrance between the substituted serine and the substrate arginine side chains.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Blackwell
ISSN:	0007-1048
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62013

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