What is one example of a point mutation disorder?

A point mutation disorder is caused by a change in a single nucleotide in the DNA sequence. This can result in a change in an amino acid in a protein, potentially altering its function.

Factor V Leiden is a well-known example of a point mutation disorder. It is specifically caused by a single nucleotide substitution in the F5 gene, which encodes for the coagulation factor V. This mutation leads to an increased risk of thrombosis due to the factor V protein being resistant to proteolytic inactivation by activated protein C. This change at the nucleotide level exemplifies how a point mutation can have significant clinical consequences.

In contrast, cystic fibrosis is primarily caused by a deletion of three nucleotides, which results in the loss of a phenylalanine residue in the CFTR protein, making it a different type of mutation. Hemophilia, particularly Hemophilia A, is commonly caused by various mutations, including large deletions and inversions. Sickle cell disease, while resulting from a single amino acid substitution, involves a specific point mutation in the HBB gene but is not classified as a disorder related to clotting factors like Factor V Leiden. Thus, the distinguishing feature of Factor V Leiden as a point mutation disorder focuses on