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. Author manuscript; available in PMC: 2018 Oct 1.
Published in final edited form as: Hum Mutat. 2017 Jul 14;38(10):1412–1420. doi: 10.1002/humu.23287

Figure 2.

Figure 2

Identification of GARS variants in patient UDP5316. (A) The simplex pedigree is shown with squares representing males, circles representing females, and diagonal lines representing deceased individuals. Sample numbers and genotypes are indicated under each symbol for the mother, father, and proband (filled circle). The proband is the only affected individual in the pedigree. (B) Representative sequence chromatograms are shown for the identified variants (protein and cDNA annotations are provided at the top) in the indicated individuals (indicated along the left side). Arrows indicate the position of each variant. (C) GARS functional domains are indicated in red (catalytic domain) and green (anti-codon binding domain), and the position of each variant is shown across the top. Numbers along the bottom indicate amino acid positions. (D) The position of the p.Arg310Gln variant is shown along with flanking amino acid residues for multiple, evolutionarily diverse species. The position of the affected residue is shown in red for each species.