The FSAP gene contains several single nucleotide polymorphisms. In donors with normal FSAP protein level but reduced pro-uPA activating activity, the mutant allele (SNP 1601) which leads to the G511E amino acid exchange of the mature protein was found. This G511E mutant has been termed FSAP Marburg I (FSAP MI).

In this report Roemisch and colleagues use in vitro clot lysis assays to link impaired pro-uPA-dependent plasma fibrinolytic potential with the FSAP M1 polymorphism.

Authors and Source:
Roemisch et al., Bloood Coagul. Fibrinolysis 2002 July;13(5):433-441.

Title:
The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP)