Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

Figure 11

Variant 8—missense variant in mutational hotspot. Missense variants in exons of yet unknown function can lead to the expression of an altered protein. Especially if many missense variants are present in the surrounding region, exon skipping would remove an important function and not produce a therapeutic effect. The shape of the exon indicates the reading frame, and grey marked areas are protein domains.