What type of mutation does Factor V Leiden most common hered

What type of mutation does Factor V Leiden (most common hereditary hypercoagulability disorder inheritated as a autosomal dominant mutation) fall into or what type of mutation causes Factor V Leiden?

Solution

Missense substitution mutation leads to Factor V Leiden . The gene which codes to the factor is F5. A mutation of this gene where Guanine is substituted by Adenine which results in the changing of amino acid Arginine to Glutamine. SO now defective Factor V is formed. This defective Factor V is difficult to be inactivated by Activated Protein C. If the Factor V remains activated, it functions as a cofactor to allow factor Xa to activate the enzyme thrombin. Thrombin in turn cleaves fibrinogen to form fibrin, which polymerizes to form the dense meshwork that makes up the majority of a clot. This results in hypercoagulability of the blood.