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Figure 3 | BMC Medical Genetics

Figure 3

From: Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

Figure 3

Results of the functional assays on the TSC2 variants identified in family 3 (variants A196T and Y598H) and family 4 (variants S132C, F143L and C244R). (A) TSC2-dependent inhibition of S6K-T389 phosphorylation. S6K, TSC1 and wild-type TSC2 (wt), or S6K, TSC1 and the TSC2 variants, were overexpressed in HEK 293 cells. Phosphorylation of S6K at the T389 position was determined by immunoblotting. A representative example of at least 3 separate experiments is shown. (B) TSC2-dependent inhibition of S6K-T389 phosphorylation. Ratio of total S6K:T389-phosphorylated S6K, as detected by immunoblotting, was estimated by densitometry scanning (Total Scan). Mean ratios relative to TSC2 wild-type (wt) are shown.(C) Inhibition of S6 phosphorylation in Tsc2 -/- MEFs. Percentage of Tsc2 -/- MEFs transfected with expression constructs encoding TSC1 and wild-type TSC2, or TSC1 and the TSC2 variants, and showing inhibition of S6 phosphorylation. Data from at least 3 separate experiments are shown.

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