Figure 1.

Evolutionary Events Lead to LoF Mutations.

(A) Different kinds of LoF mutations.

(B) LoF mutations affect different isoforms and the mechanism of the NMD pathway. The LoF mutation only affects a part of the gene transcript in case 1 and affects all transcripts in case 2. Orange rectangles indicate exons, gray rectangles indicate frameshift sequences of exons or retained intron sequences, black lines between them indicate introns, and red lines indicate LoF mutations caused by loss of a start codon or gain of a premature stop codon.