Table 1. Selected sites for mutagenesis analysis.
Mutation Sites | Predicted Functions | Clinical Implication |
---|---|---|
P.54 R->M | HEME Binding | CGD patient NOX2 mutation. |
P.57 A->E | HEME Binding | CGD patient NOX2 mutation. |
P.60 L -> A | Inhibitor Binding | N/A |
P.71 V -> A | Inhibitor Binding | N/A |
P.122 N->H | HEME Binding | IBD patient NOX1 mutation. |
P.181 M -> A | Inhibitor Binding | N/A |
P.211 F -> A | Inhibitor Binding | N/A |
P.214 Y -> A | Inhibitor Binding | N/A |
P.260 P -> A | Inhibitor Binding | N/A |
P.280 Y -> A | Inhibitor Binding | N/A |
P.339 P->H | FAD Binding | CGD patient NOX2 mutation. |
P.356 R->P | FAD Binding | CGD patient NOX2 mutation. |
P.360 D->N | FAD Binding | Common NOX1 polymorphism. Associated with UC in Ashkenazi Jewish males. |