Fig. 4.

ADAT3 variants associated with ADAT3 deficiency. ( A ) The locations of the ADAT3 variants reported in individuals with ADAT3 deficiency are shown in relation to the protein domains of ADAT3. Variants found in Subjects 1 and 2 are shown in gray. Previously described pathogenic variants are shown in black. ( B ) The variants seen in Subjects 1 and 2 affect a conserved residue located in the CMP/dCMP-type deaminase domain of ADAT3 (small outline). The large outline indicates residues around these changes that are part of the ADAT3's CMP/dCMP-type deaminase domain. ADAT3, adenosine deaminase, tRNA specific 3; CMP/dCMP, cytidine monophosphate/deoxycytidine monophosphate.