Application | Comment | Organism |
---|---|---|
medicine | isolation of mutations leading to type I recessive congenital methaemoglobinaemia | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A178T | natural mutation found in patient with type I recessive congenital methaemoglobinaemia, 16.6% of wild-type enzyme activity | Homo sapiens |
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 | Homo sapiens |
E255- | natural mutation found in patient with type I recessive congenital methaemoglobinaemia, mutation of NADH-binding lobe. Mutant retains stoichiometric levels FAD comparable to wild-type | Homo sapiens |
G291D | natural mutation found in patient with type I recessive congenital methaemoglobinaemia, mutation of NADH-binding lobe. Mutant retains stoichiometric levels FAD comparable to wild-type and 35.2% of wild-type enzyme activity | Homo sapiens |
R159-/D239G | natural mutation found in patient with type I recessive congenital methaemoglobinaemia, 40.8% of wild-type enzyme activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patients with type I recessive congenital methaemoglobinaemia | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
2 ferricyanide + NADH | - |
Homo sapiens | 2 ferrocyanide + NAD+ + H+ | - |
? | |
NADPH + ferricytochrome b5 | - |
Homo sapiens | NADP+ + H+ + ferrocytochrome b5 | - |
r |
Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
---|---|---|---|---|---|
3 | - |
NADPH | mutant E255-, pH 7.0 | Homo sapiens | |
19 | - |
NADPH | mutant G291D, pH 7.0 | Homo sapiens | |
33 | - |
NADPH | wild-type, pH 7.0 | Homo sapiens | |
190 | - |
NADPH | mutant D239G, pH 7.0 | Homo sapiens | |
754 | - |
NADH | wild-type, pH 7.0 | Homo sapiens | |
754 | - |
NADH | mutant D239G, pH 7.0 | Homo sapiens | |
754 | - |
NADH | mutant E255-, pH 7.0 | Homo sapiens | |
754 | - |
NADH | mutant G291D, pH 7.0 | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NADH | - |
Homo sapiens | |
NADPH | - |
Homo sapiens |