Figure 1 | European Journal of Human Genetics

Figure 1

From: Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

Figure 1

(a) A schematic of the TSC2 protein showing the key functional domains and major phosphorylation sites. The patient-derived mutations are shown above the protein structure. (b) Stability of the TSC2 mutant proteins transiently transfected into HEK293 cells was analysed following 10 μg/mg cycloheximide treatment for 9 h. Total cell lysates were probed with anti-Flag antibody. The western blots shown are representative of three independent experiments, while the densitometry data for the level of TSC2 protein shows the mean and standard deviation of all three experiments. The 0- and 9-h time points were compared using a t-test, and P-values are indicated: NS, not significant; *P<0.05; **P<0.01.

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