EC Number   |
Protein Variants |
Reference |
|---|
    1.3.8.7 | A1010C |
genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency |
726305 |
| 1.3.8.7 | A151T |
the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency |
684294 |
| 1.3.8.7 | A293E |
less than 5% residual octanoyl-CoA oxidation activity |
743035 |
| 1.3.8.7 | A31P |
involved in medium chain acyl-CoA dehydrogenase deficiency |
684292 |
| 1.3.8.7 | A31P |
the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency |
684294 |
| 1.3.8.7 | A52V |
mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs |
743657 |
| 1.3.8.7 | A533C |
genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency |
726305 |
| 1.3.8.7 | A985G |
genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, phenotype, overview |
726305 |
| 1.3.8.7 | A985G |
in the Brazilian population, about 0.41% of individuals are heterozygous for the A985G mutation. The mutant homozygous genotype was not found |
698117 |
| 1.3.8.7 | A985G |
involved in MCAD deficiency |
689342 |
