Design of efficient treatment strategies for diseases requires clarification of the nature of
each mutation causing the disease. In this study, we have investigated three factors to
correctly predict the correlation between genotype and phenotype on N-
acetylgalactosamine-6-sulfate sulfatase (GALNS) gene responsible for one of lysosomal
storage diseases, known as mucopolysaccharidosis IVA (MPS IVA);(i) evolutionary
conservation of amino acid residues among family proteins,(ii) conservativeness of amino …