Fig. 3
Predicted impact of mutations on FARSA protein structure and the protein expression levels of FARSA and FARSB in the proband and his parents. A Location of mutations in the structural model of FARS1complexed with tRNAPhe in cartoon backbone representation. Two FARSA chains are colored in cyan and yellow, two FARSB chains in dark gray and pink, tRNAPhe in blue. Mutated amino acid residues are shown in red. B and C Predicted impact of mutations on local amino acid interactions with pairwise comparison between side chains of wild-type residues and modeled missense mutations (B, Leu391 and Pro391; C, Arg404 and His404). The residues Leu391 and Arg404 are colored yellow and showed as ball and stick model. They formed hydrogen bond with Leu387, Phe395, and Phe420 residues are also colored yellow and drawn ball and stick. Mutated residues Pro391 and His404 are shown in dim gray. FARSA chain is colored cyan and FARSB chain is colored light gray. Blue and red balls highlight single nitrogen and oxygen, respectively. D FARSA and FARSB expression levels in the proband and his parents