EC Number   |
Protein Variants |
Reference |
|---|
   1.6.3.1 | D484T |
mutant of the alpha-helical loop of isoform Nox2, neither NADPH oxidase nor iodonitrotetrazolium reductase activity |
674426 |
| 1.6.3.1 | D500A |
mutant of the alpha-helical loop of isoform Nox2, neither NADPH oxidase nor iodonitrotetrazolium reductase activity |
674426 |
| 1.6.3.1 | D500G |
mutant of the alpha-helical loop of isoform Nox2, neither NADPH oxidase nor iodonitrotetrazolium reductase activity |
674426 |
| 1.6.3.1 | D500R |
mutant of the alpha-helical loop of isoform Nox2, neither NADPH oxidase nor iodonitrotetrazolium reductase activity |
674426 |
| 1.6.3.1 | D506N |
heterozygous mutation isolating in clinically unaffected mother and in a brother, while the patient suffering congenital hypothyroidism additionally carries heterozygous mutation ins602g to fsX300 |
673137 |
| 1.6.3.1 | D506N |
naturally occuring missense mutation. Mutant display a partial deficiency phenotype with reduced surface expression of protein with normal intrinsic activity in generating H2O2. N-glycan moieties of the mutant protein are not subject to normal modification in the Golgi apparatus |
688991 |
| 1.6.3.1 | E99Q/E143Q |
site-directed mutagenesis, mutation in the Ca2+ binding domain of NOX5 |
726081 |
| 1.6.3.1 | K195A |
mutation in D-loop of isoform Nox2, complete loss of enzymic activity, but normal p47phox translocation and normal iodonitrotetrazolium reductase activity |
674426 |
| 1.6.3.1 | K195E |
mutation in D-loop of isoform Nox2, complete loss of enzymic activity, but normal p47phox translocation and normal iodonitrotetrazolium reductase activity |
674426 |
| 1.6.3.1 | medicine |
epigenetic silencing of Duox is frequently observed in lung cancer |
699108 |
