Fig. 3 | Journal of Human Genetics

Fig. 3

From: Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

Fig. 3

Schematic representation of endoglin mRNA. The 5’UTR, the 3’UTR and the open reading frame (ORF) are indicated in the diagram. Endoglin cDNA accession number (X72012) corresponding to the 3073-bp mRNA of endoglin [22] and the gene ID (GI, 402206) are included. The sequence of wild type (WT) and mutant c.-142A>T corresponding only to the −162/+15 region is shown. Asterisks indicate the positions of HHT1 mutant. The constitutive translation initiation site (ENG ORF) as well as the new putative translation initiation site of the mutant (+1; blue broken arrows) are underlined

Back to article page