Fig. 2: Schematic overview of BRCA2 reading frame and functionality of alternative isoforms. | Genetics in Medicine

Fig. 2: Schematic overview of BRCA2 reading frame and functionality of alternative isoforms.

From: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Fig. 2: Schematic overview of BRCA2 reading frame and functionality of alternative isoforms.

(a) BRCA2 reading frame and (b) the functionality conferred by alternative in-frame BRCA2 isoforms including single- and multiple-exon deletions. Figure adapted from Mesman et al.22 Green box = homology directed repair (HDR) capacity >50%. Red box = no complementation or HDR capacity ≤ 30%.

Back to article page