Fig. 3
From: Expanding the clinical phenotype of IARS2-related mitochondrial disease
IARS2 scheme, sequence alignment and homology model. a Sequence alignment among vertebrates (H. sapiens, NP_060530.3; M. musculus, NM_198653.2; C. anna, XM_008492093.1; G. gallus, NM_001006397.1; C. mydas, XM_007064764.1; X. tropicalis, NM_001127043.1; L. chalumnae, XM_005998405.2; D. rerio, XM_021467083.1) around the sites of the missense mutations discussed in the text (Glu708Lys, His761Arg, Gly874Arg, Pro909Leu, and Pro909Ser). Residues that are invariant in this group of organisms are shown in gray. b Schematic view of IARS2 protein indicating mutations (those reported in this study and the published ones) and colored by phenotype. c Homology model of IARS2. The protein ribbon has the same colors that are shown in the functional regions of the protein in panel B. The residues affected by the missense mutations are highlighted by surfaces with the same color scheme as in panel B. The bound cognate tRNA (tRNAIle) is shown as ribbon and sticks in light orange, and the Ile-AMP analogue as yellow sticks