Fig. 3: Enzyme activity of recombinant PPA2 variants.
From: PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
(a) The percentage of activity of the recombinant PPA2 relative to recombinant wild-type PPA2 at 37 °C is indicated at different pyrophosphate concentrations along the x-axis. At least three replicates were performed for all conditions. Two PPA2 variants (Arg84Gln and Val243Leu), which are found in homozygosity in the gnomAD database, are shown in shades of green and serve as positive controls. Error bars show the standard error of the mean (SEM). (b) Enzyme activities of the recombinant proteins were determined at different temperatures (25 °C, 37 °C, 50 °C) with a pyrophosphate concentration of 0.2 mmol/l. Three replicates were carried out per recombinant enzyme, per temperature. The two PPA2 variants in shades of green serve as positive controls. Error bars show the SEM.
