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Table 2 RNA pathogenicity predictions in MToolBox with corresponding scores

From: A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs

rRNA prediction rRNA Score RNA pathogenicity score in MToolBox tRNA Score tRNA prediction
Proven pathogenic 5 1.000 20 Definitely pathogenic
0.950 19 Definitely pathogenic
0.900 18 Definitely pathogenic
0.850 17 Definitely pathogenic
Expectedly pathogenic 4 0.800 16 Definitely pathogenic
0.750 15 Definitely pathogenic
0.700 14 Definitely pathogenic
0.650 13 Possibly/definitely pathogenic
Likely pathogenic 3 0.600 12 Possibly/definitely pathogenic
0.550 11 Possibly/definitely pathogenic
0.500 10 Possibly pathogenic
0.450 9 Possibly pathogenic
Not enough evidence 2 0.400 8 Possibly pathogenic
0.350 7 Possibly pathogenic
0.300 6 Neutral
0.250 5 Neutral
Undetermined 1 0.200 4 Neutral
0.150 3 Neutral
0.100 2 Neutral
0.050 1 Neutral
Unlikely pathogenic 0 0.000 0 Neutral
  1. RNA pathogenicity scores provided by MToolBox pipeline, shown in the central column of the table, derived from two different scoring systems for rRNA and tRNA genes, respectively. Original predictions and scores, reported on the right and the left of MToolBox scores, were retrieved from the literature and normalized to a 0–1 range. Thresholds of 0.600 for rRNA and 0.350 for tRNA sequence variations (in bold) were set according to original scores. Damaging effects could be observed for variants with a score above or equal to the chosen thresholds, while neutral variants should be associated with lower values