Fig. 2
From: Fatal systemic disorder caused by biallelic variants in FARSA
The effects of P347L and R475Q variants of FARSA on structural integrity and function. a The structural model of tRNAPhe-bound human FARS1 (PDB ID 3L4G) is represented as a ribbon diagram. The location of each variant is marked with a black box in this model. b Close-up views of each variant site are presented. Residues interacting with P347 (left) and R475 (right) are shown as stick figures, and dotted lines indicate polar interactions. c Purification profiles and SDS–PAGE gels showing purified heteromers (WT and R475Q) and FARSA P347L mutant that failed to form a heteromer with FARSB are presented. d In vitro ATPase activity assays of wild-type (WT) and R475Q FARSA variants revealed reduced activity of R475Q compared with wild-type FARSA. Three independent experiments, each in triplicate, were performed for each dataset