Figure 4.

Representation of the effect of a genomic variant on CDS translation. Representations of the NF2 mRNA for the reference sequence (A) and in the presence of the insertion variant (B). ORF organization is shown at the top with reading frames shaded differentially according to the reference sequence. AUG and stop codons are represented as green and black vertical bars, respectively. RDGs are shown at the bottom. Given the low probability of leaky scanning through the first two AUGs (see text), it is expected that the translon T3 corresponding to the CDS cannot be translated in the pathogenic variant sequence.