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.  are in violet, those described by Lindsay et al.  in blue (# also reported by Boileau et al. ), those in Renard et al.  in green, the mutation reported in Leutermann et al.  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.