text: Imperfect inverted repeats can lead to mutations through intrastrand and interstrand switching.  The antithrombin III gene's coding region is an example of an imperfect inverted repeat as shown in the figure on the right.
  The stem-loop structure forms with a bump at the bottom because the G and T do not pair up. A strand switch event could result in the G (in the bump) being replaced by an A which removes the "imperfection" in the inverted repeat and provides a stronger stem-loop structure. However, the replacement also creates a point mutation converting the GCA codon to ACA. If the strand switch event is followed by a second round of DNA replication, the mutation may become fixed in the genome and lead to disease. Specifically, the missense mutation would lead to a defective gene and a deficiency in antithrombin which could result in the development of venous thromboembolism (blood clots within a vein).