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. 2012 Oct 29;135(11):3392–3403. doi: 10.1093/brain/aws231

Figure 3.

Figure 3

Schematic representation of the RRM2B gene structure illustrating the 18 different mutations identified in this study. Coding exons are numbered 1–9. Missense mutations are shown in pink boxes, exon 9 truncating mutations are shown in green boxes and the c.48G>A splice mutation is shown in a yellow box. RRM2B mutations associated with autosomal-dominant PEO (adPEO) in this study, which have also been associated with more severe autosomal-recessive disease [either early-onset autosomal-recessive PEO (arPEO) or mitochondrial DNA depletion syndrome], are highlighted in red. Novel unreported RRM2B mutations are highlighted in blue.