Figure 2.

Exome sequencing reveals mutations in highly conserved regions of the catalytic domain of MARS. A: MARS mutations in the patient and her parents. The patient is compound heterozygous for the mutations c.1108 T > C, F370L (paternally inherited) and c.1568 T > C, I523T (maternally inherited), see arrows. B: Protein sequence alignment of MARS orthologs. The mutated residues are indicated by arrows and marked in red when conserved. C: Schematic representation of the different domains of MARS. The locations of the mutations, which are in the catalytic domain (orange), are indicated by arrows. The GST-like domain is shown in blue and the tRNA binding domain in green.