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. 2024 Oct 11;19:376. doi: 10.1186/s13023-024-03365-w

Fig. 3.

Fig. 3

Schematic representation of TARS2 variants identified to date. The structure of TARS2 contained 18 exons (dark blue rectangles), and introns (grey horizontal line); lower side: the TARS2 protein domains: N1 domain; N2 domain; Aminoacylation domain; Anticodon binding domain; motif. The localization of variants and substitutions identified is signed with vertical line. Black: Variants identified in the literature; Red: Novel variants detected in this study. Blue: the founder mutation in Chinese patients with COXPD21