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

Figure 3

Hypothetical transcript containing different loss-of-function variants. The shape of each exon depicts the reading frame. Grey areas within the exons show important functional domains. Variants are as follows: (1) canonical splice site variant; (2) branch point variant; (3) intronic cryptic splice site variant; (4) exonic cryptic splice site variant; (5) variant disrupting a splice-regulatory element; (6) variant leading to an early truncation, i.e., nonsense variants and frameshift variants; and (7) and (8) missense variants. The shape of the exons represents the reading frames, and grey marked areas are protein domains.