VWD and concatemer length distributions. (A) VWF and its domains to scale by amino acid residue with distribution of VWD mutations. Mutations are from the International Society for Thrombosis and Hemostasis Database.83 Each missense mutation, including mutations of the same residue to different amino acids, is shown as a dot. Mutations are type 1, partial quantitative deficiency; type 2A, reduced platelet adhesion with absence of long multimers; type 2B, increased platelet adhesion; type 2M, qualitative defect in platelet or collagen binding; type 2N, qualitative defect in binding FVIII; type 3, severe quantitative deficiency.4 (B-D) VWF length distributions shown with SDS-agarose electrophoresis followed by western blotting with anti-VWF. 1, 2A, 2B, and 3, respective VWD types; EC, VWF secreted by histamine-stimulated endothelial cells in vitro (in absence of ADAMTS13); NP, normal plasma; TTP, thrombotic thrombocytopenic purpura. (B) Reprinted from Sadler4 with permission. (C) Reprinted from Loirat et al111 with permission. (D) Reprinted from Arya et al112 with permission.
