Figure 2.

Location of mutations resulting in Type 2 von Willebrand disease. Almost all of these mutations are missense variants. Type 2A substitutions affect predominantly the A2 domain, with some additional substitutions in the propeptide, D’ domain and the cysteine knot region. Almost all type 2B and 2M substitutions are located in the A1 domain, and the loss-of-function FVIII binding mutations in type 2N disease are in the D’/D3 domains.