Fig. 2.

Distribution of the ACO2 variants classified as pathogenic or likely pathogenic. (a) Distribution of the 89 unique variants. Exons involved in the variants are shown as blue bars; the variants in the intronic neighborhood of the exons are shown as red bars; the location of the two variants significantly more frequently reported being indicated by the “+” symbol. (b) Comparison for each region of its size on the sequence (Amino acids), of the distribution of the variants reports in the dataset (i.e. by counting each of the reported case of the same variant; Reported variants), and of the distribution of the unique variants (i.e. by counting only once several reported cases of the same variant). (c) Distribution of the different effects on the protein of the ACO2 variants considered pathogenic. Data as of June 8, 2020.