EC Number   |
Protein Variants |
Reference |
|---|
    1.3.8.8 | 997insT |
frameshift, heterozygote mutation of exon 10, mutation of a myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency |
700578 |
| 1.3.8.8 | A364G |
patient died suddenly in infancy, severe VLCAD deficiency |
673935 |
| 1.3.8.8 | A450P |
mutant shows normal wild type activity and greatly reduced mitochondrial membrane association |
689007 |
| 1.3.8.8 | A450P |
unpurified recombinant enzyme shows increased activity, pure mutant enzyme has wild type activity |
689007 |
| 1.3.8.8 | A985G |
nearly all patients with residual MCAD activities below 2.5% are homozygous 985A>G carriers |
700905 |
| 1.3.8.8 | E261Q |
mutant exhibits less than 0.02% of the wild-type activity |
394661 |
| 1.3.8.8 | G520A |
patient symptomatic, with episodic rhabdomyolysis |
673935 |
| 1.3.8.8 | K259M |
missense mutation leading to VLCAD deficiency |
686160 |
| 1.3.8.8 | K264E |
A790G, heterozygote mutation of exon 9 |
700578 |
| 1.3.8.8 | L462P |
in the pure form, mutant has roughly 30% of wild type activity and greatly reduced mitochondrial membrane association |
689007 |
