Figure 3 of Hu, Mol Vis 2012; 18:87-91.


Figure 3. Schematic diagram showing a possible consequence from the c.163–1G→T transversion in FRMD7. A: Schematic diagram of wild type FRMD7. B: The mutant destroys the original splicing acceptor on the 3′ side of intron 2, and thus causes exon 3 (bases in green font) skipping and creates a truncated protein of 64 amino acids. C: Another altered splicing introduces a new stop codon and creates a truncated protein of 59 amino acids.