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EC Number	Protein Variants	Commentary	Reference
2.7.1.33	A267F	catalytically inactive	722018
2.7.1.33	A269F	catalytically inactive	722018
2.7.1.33	A509V	naturally occurring mutation, early onset in patients, 105% activity compared to the wild-type enzyme	662455
2.7.1.33	D101A	reduced enzymatic activity	677154
2.7.1.33	D105E	less than 6% activity of the wild type enzyme	674291
2.7.1.33	D105N	less than 6% activity of the wild type enzyme	674291
2.7.1.33	D121A	reduced enzymatic activity	677154
2.7.1.33	D125E	less than 6% activity of the wild type enzyme	674291
2.7.1.33	D125N	less than 6% activity of the wild type enzyme	674291
2.7.1.33	D6A	reduced enzymatic activity	677154

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Release 2023.1 (January 2023)