The c.1787G>T and c.1787G>A Mutations are not Found in the Prothrombin Gene in a Spanish Population

Abstract

Miyawaky et al. have identified recently a new prothrombin gene mutation c.1787G>T in a Japanese family with hereditary thrombophilia [4]. This mutation is located in the last exon of the prothrombin gene resulting in Arg596Leu replacement. Djordjevic et al. [5] also have described another mutation at the same prothrombin gene position (c. 1787G>A prothrombin Belgrade) that results in aminoacid change (Arg596Gln). The mutant prothrombins were shown to have reduced activity in clotting assays and the produced thrombin was markedly resistant to inhibition by antithrombin.