Figure 1.
Common VWF A1 domain variants in type 2B VWD. Scale schematic of VWF showing the common VWF domains (gray boxes). The exons encoding each domain are numbered and the VWF regions associated with specific VWF functions are shown. In type 2B VWD, variation in the VWF A1 domain (encoded within VWF exon 28) confers enhanced binding to platelet GPIb. Amino acid residues with recurring substitutions reported in type 2B VWD26 are shown.
