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Overview of the consequences of the GNPTAB missense mutations. Each mutant was classified based on its main defect. It should be noted that W81L, L1001P, and D1018G αβ phosphotransferase show partially impaired ER exit and undetectable to very low activity toward α-MM, and therefore, these mutations may impair both ER exit and catalytic activity. ER exit of A592T may be slightly impaired; however, the main defect is in the catalytic activity. IDU, α-iduronidase.
