Mutations in HJV. Positions of the nonsense and 2 missense mutations are shown diagrammatically. The Q6H and C321X mutations were present on the maternal allele; the I281T mutation (^*) was found on the paternal allele. The signal peptide, RGD domain (RGD), von Willebrand factor D-domainlike (VWF type D), and putative transmembrane domain (TM) regions are indicated with colored boxes.