EC Number |
Protein Variants |
Reference |
---|
1.3.8.6 | A293T |
naturally occruing mutation in GCDH |
713046 |
1.3.8.6 | A377T |
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers |
654767 |
1.3.8.6 | A377V |
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers |
654767 |
1.3.8.6 | A389E |
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers |
654767 |
1.3.8.6 | A389V |
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers |
654767 |
1.3.8.6 | A421T |
site-directed mutagenesis, altered Km, kcat is only slightly affected, slightly reduced activity compared to the wild-type enzyme |
656812 |
1.3.8.6 | A421V |
site-directed mutagenesis, altered Km, kcat is only slightly affected, reduced activity compared to the wild-type enzyme |
656812 |
1.3.8.6 | A433E |
site-directed mutagenesis, nearly inactive mutant |
656812 |
1.3.8.6 | A433V |
site-directed mutagenesis, altered Km, kcat is only slightly affected, reduced activity compared to the wild-type enzyme |
656812 |
1.3.8.6 | C1296T |
the mutation leads to glutaryl-CoA dehydrogenase deficiency |
685869 |