3.1.2.22	A179T	loss-of-function allele	710070	
3.1.2.22	A179T	loss-of-function allele, although endocytosis and endo-lysosomal trafficking does occur in Ppt1 mutant garland cells, there is a reduced level of uptake and a decreased rate of trafficking to the lysosomes	710070	
3.1.2.22	A179T	loss-of-function mutant, shows an increased frequency of mini excitatory junctional potentials, defects in vesicle cycling during and following repetitive stimulation, and a decreased rate of fluorescent endocytic tracer FM1-43 endocytosis	729768	
3.1.2.22	C6S	the activity of the non-palmitoylatable mutant significantly surpasses that of the wild type enzyme by more than 42% in the cell lysate and 25% in the cell medium	751937	
3.1.2.22	D233N	site-directed mutagenesis, inactive mutant	653651	
3.1.2.22	D79G	naturally occurring mutation, recombinant enzyme shows 32.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	651450	
3.1.2.22	D79G	site-directed mutagenesis, highly reduced activity	653651	
3.1.2.22	E184K	naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor	651450	
3.1.2.22	F84del	natural deletion mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects	651455	
3.1.2.22	G118D	natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects	651455