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Factor V Leiden (rs6025 or F5 p.R506Q [1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability).
The most common one of these, factor V Leiden, is due to the replacement of an arginine residue with glutamine at amino acid position 506 (R506Q). All prothrombotic factor V mutations (factor V Leiden, factor V Cambridge, factor V Hong Kong) make it resistant to cleavage by activated protein C ("APC resistance").
A point mutation in the gene encoding factor V can lead to a hypercoagulability disorder called factor V Leiden. In factor V Leiden, a G1691A nucleotide replacement results in an R506Q amino acid mutation. Factor V Leiden increases the risk of venous thrombosis by two known mechanisms. First, activated protein C normally inactivates factor Va ...
Factor V Leiden is an inherited blood clotting disorder. It can cause life-threatening clots in the body and complications during pregnancy.
The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5] Other genetic causes include Factor V Cambridge (VThr306) and the factor V HR2 haplotype (A4070G mutation). [5] [6] Acquired forms of APC resistance occur in the presence of elevated Factor VIII concentrations.
Once the baby has been delivered and the role the placenta plays in preeclampsia is no longer a factor, Tsigas says, "most women with preeclampsia will fully recover."
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There, Arg 506 is replaced with Gln, producing Factor V Leiden. This mutation is also called a R506Q. [16]: 2382 The mutation leading to the loss of this cleavage site actually stops APC from effectively inactivating both Factor V a and Factor VIII a. Thus, the person's blood clots too readily, and he is perpetually at an increased risk for ...