Figure 7.

Variants of NUP93 reported in patients with focal segmental glomerulosclerosis (FSGS). Three-dimensional structure of human nucleoporin (NUP)93 created by the SWISS-MODEL³⁶ and a variant in FSGS. The template of this model was from PDB 5IJN¹⁸ (a). Protein domain structure of human NUP93²⁵ and a schematic representation of NUP93 mutation positions (b). The N-terminal coiled-coil region is marked in red; the alpha-helical regions are marked in blue. NUP93 variants, age of onset and end-stage renal disease (ESRD), and ethnic origin of the present and previously reported patients are shown. The positions of variants are shown as colored squares. The European founder mutation (G591V), the Turkish founder mutation (Y629C),²⁵ and the other mutations are shown as orange, green, and gray squares, respectively. CKD3, chronic kidney disease stage 3; CZSK, Czech and Slovak; Ref, reference; Y, years. The asterisk refers to the present case.