Fig. 3

The c.2383G > T, p.E795X nonsense mutation in RPGR. a Structural comparison between wild type and mutant RPGR protein. Wild type (left) and mutant (right) RPGR protein models are shown. While the N-terminal RCC1-like domain is conserved (highlighted by yellow boxes), the hemizygous mutation induces the loss of a long C-terminal domain including a highly rich of the glutamic acid domain (dotted box), resulting in a much shorter protein. b Expression of RPGR-wt, RPGR-mut (c.2383G > T) and RPGR-mut (c.2929G > T) in transfected 293 T cells was assessed by Western blot. The grouping of blot was cropped from the same gel. The full-length blot was included in a supplementary information file. c Confocal images show both RPGR-wt, RPGR-mut (c.2383G > T) and RPGR-mut (c.2929G > T) appeared in the cytoplasm