Fig. 5
From: Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients
(A), (B), and (C) presenting family pedigree of P5, chromatogram and location of mutation (c.732T > G/p.C244W) in exon 7 respectively while (D) and (E) representing residue p.C244W across the species and 3D structure analysis of wild and mutant type p.C244W gp91phox respectively, (F), (G), and (H) representing the prediction tools (Polyphen-2, Mutation Taster and SIFT). The black filled squares represent patients