3.1.1.53 A385T naturally occuring mutation 730718 3.1.1.53 A394T naturally occuring mutation 730718 3.1.1.53 A467V naturally occuring mutation from patients with anti-PIT-1 antibody syndrome. The mutation occurs in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome, and in 6% of control subjects, the prevalence is significantly increased in the patients 729642 3.1.1.53 A467V naturally occuring mutation, the enzyme shows over 110% catalytic activity compared to the wild-type enzyme. The mutant is secreted upon overexpression 730718 3.1.1.53 C196F naturally occuring mutation, the mutant shows highly reduced catalytic activity compared with the wild-type enzyme 730718 3.1.1.53 C443R naturally occuring mutation 730718 3.1.1.53 E26A site-directed mutagenesis, the mutant shows highly reduced activity compared to the wild-type NanS 716859 3.1.1.53 F211A abrogated ligand recognition and binding 700987 3.1.1.53 F404S naturally occuring mutation 730718 3.1.1.53 G419E naturally occuring mutation 730718