Thus, the substitution of the R735 guanidinium group has apparently a more pronounced effect on AspH catalysis than the R688Q substitution, potentially indicating why Traboulsi syndrome–associated SNPs in the ASPH codon for R735 are apparently more frequently detected than SNPs in other ASPH codons (25). The gene discussed is ASPH; the disease is facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.