Fig. 4

ARSA enzyme activity. A CDS enzymatic activities of ARSA variants. Percent of wild-type CDS enzymatic activities normalized to BLA levels for all 281 variants are plotted along with standard deviations (based on measurement of three separate wells of transfected HEK293T cells per variant). Brackets of activity-based severity are delimited by blue dashed lines. B ARSA enzymatic activity by patient-based severity categories. Box and whisker plot of CDS ARSA activity displayed by variants classified as benign, mild, moderate, or severe by the patient-based severity ruleset. Boxes indicate the interquartile range, with the median shown as a vertical line, and whiskers indicate the full range of data. ARSA, arylsulfatase A; CDS, coding sequence