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. 2011 Aug 12;6(8):e23021. doi: 10.1371/journal.pone.0023021

Figure 4. Allelic heterogeneity is associated with differences in clinical severity.

Figure 4

The charts depict the distribution of clinical severity for (A) mutations in exons 1–14 vs. mutations in ORF15 and (B) mutations that are predicted to result in nonsense-mediated decay (NMD) vs. mutations that are predicted to result in a translated, abnormal protein product. Mild = grade 1; Moderate = grade 2; Severe = grade 3. P-values were calculated using a two-tailed Fisher Exact Test comparing grade 1 and grade 3 patients in each group (grade 2 patients were excluded). F is the average coefficient of inbreeding.