What is the nucleotide substitution for the Factor 5 Leiden mutation?

The Factor V Leiden mutation is characterized by a specific nucleotide substitution within the gene that encodes for coagulation factor V. This mutation involves a change from guanine to adenine at a specific position in the factor V gene.

This alteration leads to the production of a variant of factor V that is resistant to inactivation by activated protein C, which is critical in the regulation of blood coagulation. The result of this mutation is an increased risk of thrombosis due to the persistence of factor V activity. The conversion of guanine to adenine effectively changes the codon sequence and ultimately impacts the protein function, thereby contributing to the pathophysiology associated with Factor V Leiden.

Recognizing this specific nucleotide change is crucial for understanding both the genetic basis of the mutation and its implications in clinical scenarios, such as an individual's predisposition to clotting disorders.