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

Figure 10

Variant 7—missense variant in an in-frame exon within a functional domain. Missense variants located in regions coding for important domains can disrupt protein function. These variants are not eligible for an exon skipping approach. While removing the variant-containing exon would not disrupt the reading frame of the transcript, it would likely lead to the production of an internally truncated protein with an altered function. The shape of the exon indicates the reading frame, and grey marked areas are protein domains.