TABLE 2.

Consequences of GNPTAB missense mutations

¹ These mutations were reported with an additional, novel mutation on the same allele (D407A and A663G; A955V and K928R; V182D and Q205P). However, our analysis only showed defects with the listed mutations. The additional changes are likely single nucleotide polymorphisms.

² Exit ER was evaluated by confocal immunofluorescence microscopy (co-localization with Golgi marker GM130) and Western blot analysis (level of processed β subunit relative to WT β subunit). In almost all cases the results were in agreement. A592T αβ phosphotransferase localized predominantly in the Golgi complex. However, the β subunit level was lower than WT in all experiments. Therefore, this mutant is likely somewhat retained in the ER.

³ NT, not tested.