Skip to main content


Figure 3 | BMC Medical Genetics

Figure 3

From: Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Figure 3

Overview of currently known TGFB2 mutations. Exons and untranslated regions (UTR) are represented by numbered boxes. The signal peptide is represented by a yellow, the Latency-Associated Peptide (LAP) domain by a green, and the TGF-β2 cytokine domain by an orange box. Frameshift/truncating mutations are listed at the bottom, while missense mutations are listed on the top. The mutations reported by Boileau et al. [17] are in violet, those described by Lindsay et al. [16] in blue (# also reported by Boileau et al. [17]), those in Renard et al. [18] in green, the mutation reported in Leutermann et al. [19] is in black, and the mutation identified in this study is in red. Numbering is based on transcript NM_001135599.2 and protein reference sequence NP_001129071.1.

Back to article page