Characterization, localization, and conservation of GARS mutations. A, Representative sections of sequence chromatograms are shown for the regions encompassing the identified GARS mutations in the indicated families. Arrows denote each mutation (present in a heterozygous state), with the resulting amino acid changes depicted below along with an indication of their relative positions in the GARS protein. B, The known functional domains of the GARS protein are indicated in green (WHEP-TRS enzyme conjugation domain), red (core catalytic domain), and yellow (Gly-tRNA anticodon binding domain). C, For each of the four detected mutations, the variant amino acid is shown along with the flanking GARS sequence in multiple, evolutionarily diverse species. Note that each specific amino acid change is given at the top, with the relevant position depicted in red for the sequence in each species. Dashes indicate where sequence data were unavailable.