Figure 2.

Mutations identified in the three DVL genes in humans. Mutations are indicated at the positions of amino acid changes. Changes detected in individuals with NTDs (De Marco et al., 2013; Merello et al., 2013; Chen et al., 2016) are color coded orange (predicted pathogenic) and gray (predicted benign, in all cases A>V). All ADRS mutations are (−1)-frameshift mutations resulting in altered amino acid sequences in the C-terminus and a premature stop (Bunn et al., 2015; White et al., 2015, 2016), which are indicated by hatched area and red line respectively. Positions of individual mutations associated with ADRS are labelled with red dots.