Schematic representation of wild type and mutant versions of endoglin. The 5'UTR, the 3'UTR and the region corresponding to the ORF are indicated (top). The sequence of wild type (WT) and mutants (c.-127C > T; c.-9G > A; c.-9G > A and +1A > G) corresponding only to the -162/+15 region is shown. Asterisks indicate the positions of the HHT mutations of Figs. 2a and 2b. The constitutive translation initiation (+1), the predicted translated amino acids (three letters code in green) as well as the putative translation initiation sites (brown broken arrow) are also indicated.
Damjanovich et al. Orphanet Journal of Rare Diseases 2011 6:85 doi:10.1186/1750-1172-6-85