ASPH and facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome: Our analyses show that all the tested Traboulsi syndrome–associated AspH variants retain at least basal levels of oxygenase activity with 2-oxoacids present in human cells and reveal that both the catalytic efficiency and cosubstrate scope of the tested AspH variants vary with respect to both the location (i. e., R688 or R735) and the type of variation (i. e., R735Q versus R735W) (Table 1, Table 2, Table 3, Table 4).