Figure 2.

Graphical representation of the identified SMAD6 variants. SMAD6 has two major protein domains, a DNA-binding MH1 domain and a MH2 domain that interacts with components of the TGF-β and BMP signaling pathways. Variants above the protein have been found in patients, while those below the protein occurred in control individuals. Variants in blue are absent from the ExAC database, variants in orange have an ExAC MAF below 0.01%. Abbreviations: TGF-β, Transforming growth factor-β; BMP, Bone morphogenetic protein; ExAC, Exome Aggregation Consortium; MAF, Minor Allele frequency.