Figure 1: The novel missense sequence variation in GPIbα affects a conserved amino acid in the HUS patient. a. Sequencing chromatograms of the HUS patient with c.137C>T (top) and of a control individual without the change (bottom). The position of the altered nucleotide is indicated with an arrow. b. Sequence alignment of corresponding regions of GPIbα homologues from various species: human (NP_000164.5); chimpanzee (XP_523557.3); rhesus macaque (ACJ38405.1); rat (NP_001103124.1); mouse (NP_034456.2); dog (NP_001003083.1); cow (XP_002695841.1), the Pro46 position is indicated. c. Structure of the N-terminal part of GPIbα (red) in complex with VWF-A1 domain (green) (protein data bank identification code: 1M10). The Pro46, affected by the novel genetic change, is indicated with dark blue spheres, Met255 and Gly249, mutated in platelet-type von Willebrand disease are shown in light blue.