EC Number   |
Protein Variants |
Reference |
|---|
   1.6.2.2 | A178T |
natural mutation found in patient with type I recessive congenital methaemoglobinaemia, 16.6% of wild-type enzyme activity |
672826 |
| 1.6.2.2 | A179T |
naturally occuring mutation causing the RCM phenotype depending on homozygosity/heterozygosity or other additional mutations |
724801 |
| 1.6.2.2 | A179V |
naturally occuring mutation causing the RCM phenotype depending on homozygosity/heterozygosity or other additional mutations |
724801 |
| 1.6.2.2 | C204R |
naturally occuring mutation causing the RCM phenotype depending on homozygosity/heterozygosity or other additional mutations |
724801 |
| 1.6.2.2 | C204Y |
naturally occuring mutation causing the RCM phenotype depending on homozygosity/heterozygosity or other additional mutations |
724801 |
| 1.6.2.2 | D239E |
decreased activity with NADH and NADPH |
657949 |
| 1.6.2.2 | D239G |
natural mutation found in patient with type I recessive congenital methaemoglobinaemia, mutation of NADH-binding lobe. Mutant shows decreased specificity for NADH and increased specificity for NADPH, 28.5% of wild-type enzyme activity |
672826 |
| 1.6.2.2 | D239S |
significantly increased activity with NADPH |
657949 |
| 1.6.2.2 | D239S/F251R |
specific for NADPH |
657949 |
| 1.6.2.2 | D239S/F251Y |
bispecific for NADH and NADPH |
657949 |
