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. Author manuscript; available in PMC: 2025 Jul 23.
Published in final edited form as: Physiol Rev. 2025 Jan 15;105(3):1291–1428. doi: 10.1152/physrev.00034.2023

Figure 13. Localization of single nucleotide variations (SNVs, black font) and single nucleotide polymorphisms (SNPs, gray font) for NOX2.

Figure 13.

Virtual 3D-image was obtained from the protein data bank (PDB) with the ID# 8GZ3, and edited using the software UCSF Chimera, version 1.17.2 (May 2024). Briefly, chain B (cytochrome b-245 heavy chain, NOX2) of PDB 8GZ3 was isolated and colorized according to domain classifications: 6 transmembrane domains (TMDs) are depicted in orange, extracellular regions are depicted in gray, and intracellular regions are in magenta. Location of five mutations discussed in the manuscript are highlighted in cyan and magnified to show the amino acid side chain. These include rs137854588 (R73*, intracellular), rs137854591 (R91*, intracellular), rs139670417 (R229H, extracellular), rs137854585 (P415H, intracellular), and rs13306300 (G472S, intracellular) (Table 2). Bold text indicates an SNP. If the mutations result in the substitution of an amino acid, the residue represented in the structure is the changed amino acid. If the mutations result in a termination codon it is denoted by * and no change in amino acid is represented. Note that rs137854593 and rs151344490 (at amino acids 500 and 505) could not be represented because structural data at the C-terminal region was disordered and remains undetermined. Eighty-five mutations spanning extracellular, TMD and intracellular domains causing chronic granulomatous disease are shown in green (from Magnani, et al. (721), Table S5) are highlighted in green. Note that mutations Ala488Asp, His495Pro, Asp500Tyr/Phe/His/Asn/Gly, and Leu505Arg could not be represented because structural data was disordered and remains undetermined.