Figure 1.

IARS Variants and Gene Structure

(A) Pedigrees of the three families with recessive inherited mutations in IARS.

(B) Structure of IARS with known conserved protein domains in the gene product and localization and conservation of amino acid residues affected by mutations identified in the three families as well as by the orthologous-gene mutation associated with the weak calf syndrome. Intronic regions are not drawn to scale. Coloring in the sequence alignment represents the identity of amino acid residues.