Fig. 3: Functional assays of missense variants in MYLK. | Genetics in Medicine

Fig. 3: Functional assays of missense variants in MYLK.

From: MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Fig. 3

a–c Recombinant wild-type (WT) and mutant MLCK variants p.Tyr1575His (a), Gly1317Cys (b), and Cys1384Gly (c) were compared with previously published data on a variant shown to decrease MLCK activity, p.Ser1759Pro4 for the rate of 32P incorporation into the regulatory light chain (RLC) (left) and the kinase activity as a function of calmodulin (CaM) activation (right). For the reaction rate measurements, the maximal activities of WT MLCK (circle), variant MLCK (square), and p.Ser1759Pro MLCK (diamond) were obtained at different RLC concentrations. For the kinase activity measurements, the relative percentage of maximal kinase activity was plotted as a function of the CaM concentration. The data points represented the mean ± standard error of three or more determinations. The data were fit to the Michaelis–Menten equation for estimation of the Vmax values and KCaM value

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