Figure 2.
Distribution of the 154 different unique variants identified in the 3WINTERS-IPS cohort. A schematic representation of the pro-VWF polypeptide with the homologous repeated domains structure. Variants identified in the European population are reported at the top; those found in the Iranian population are reported at the bottom. The candidate missense mutations are reported in italics, and the potential splice site mutations are underlined. The 5 variants identified in both populations are reported in red. The variants not previously reported in the EAHAD, HGMD, or Ensembl databases are reported in blue.