Figure 1.

AsnRS1 Protein Structure and Function

(A) AA asparagine (Asn) is ligated to tRNA^Asn and catalyzed by AsnRS1 and ATP to produce Asn-tRNA (Asn), AMP, and pyrophosphate.

(B) NARS1 mutations and their predicted functional effect.

(C) Schematic representation of human ARS1 primary structure. Three main domains are depicted: the unique domain (UNE-N), the anticodon binding domain (ABD), and the catalytic domain (CAT). The nature and position of the mutants are shown above the primary structure, de novo boxed in red, and the positions of the domains are indicated below, including motif 1 (involved in AsnRS1 dimerization) and motifs 2 and 3 (which form the active site).

(D) Bar graph summarizing proportions of various clinical findings affecting individuals with NARS1 mutations.