Mutation in methionyl-tRNA synthetase 1 causing pulmonary alveolar proteinosis

Idiopathic pulmonary fibrosis with benignSFTPCvariant and pathogenicMARS1mutations: can't see the forest for the trees!

“…This p.Arg598His variant could affect the structure/stability of the cavity or the kinetics of methionine binding. Moreover, the p.Arg598His mutation was recently reported in a compound heterozygous patient with ILLD [ 13 ]. At the same position, the p.Arg598Cys has recently been described to decrease MARS1 activity in a family with ILLD [ 14 ].…”