Figure 2.

Molecular characteristics of DONSON-MGORS variants. (A) Schematic of the DONSON gene, with published pathogenic variants (black) and DONSON-MGORS variants (red) noted. Missense variants are listed above the gene cartoon, whereas splicing, truncating or loss-of-function variants are below. DONSON-MGORS are generally located closer to the N-terminus of the encoded protein, except for p.Pro545Leu, which is at the C-terminus. (B) Clustal alignment of DONSON from orthologous species. All residues at which substitutions occur are well conserved throughout evolution. While Pro545 does not demonstrate as strong conservation as the other residues, its position adjacent to a previously described variant provides additional evidence that such a substitution would be deleterious. MGORS, Meier-Gorlin syndrome.