Extended Data Fig. 6: Characteristics of RNA variants and bases.
From: Quantifying constraint in the human mitochondrial genome
(a) The proportion of pathogenic (n = 121) and benign (n = 232) tRNA variants for each base type. (b) The observed:expected ratio for variants in modified and non-modified bases in tRNA (modified, n = 411 and non-modified, n = 4101) and rRNA (modified, n = 30 and non-modified, n = 7506). The diamonds represent the observed:expected ratio, and error bars represent the 90% confidence interval. (c) The generic tRNA secondary structure, with positions colored by domain. (d) The proportion of pathogenic (n = 121) and benign (n = 232) tRNA variants for each domain, following the color legend in (c).
