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(A) The two T > C substitutions in positions 21 and 23 that have the effect of tightening the upper stem by replacing the two ‘wobble’ UG base pairs with two CG bonds. These two substitutions were introduced both in the ATM Δ context (mutant ATM 21-23C Δ) and in the ATM 46-48T Δ (mutant ATM 46-48T 21-23C Δ) context. The in vitro and in Hep3B splicing analyses of these mutants is shown in (B) and (C).
