EC Number   |
Protein Variants |
Reference |
|---|
    1.3.8.1 | C1147T/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
725105 |
| 1.3.8.1 | C319G/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and upper reaspiratory infections |
725105 |
| 1.3.8.1 | C319T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
725105 |
| 1.3.8.1 | C319T/G1095T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
725105 |
| 1.3.8.1 | C488A/C988T |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine and reactive airway disease |
725105 |
| 1.3.8.1 | C527A/T1164/G1165del/G625A |
naturally occuring mutation, genotype, mutant shows increased acylglycines and organic acid levels in the urine |
725105 |
| 1.3.8.1 | C867A |
naturally occuring homozygote mutation, genotype, mutant shows increased isobutyrylcarnitine levels in the urine |
725105 |
| 1.3.8.1 | E344G |
site-directed mutagenesis, the SCAD mutant shows reduced activity compared to the wild-typ enzyme, but does not influence the wild-type SCAD activity when co-transfected in HEK-293 cells |
712126 |
| 1.3.8.1 | E367Q |
mutant enzyme shows less than 0.03% of the activity seen in normal cloned enzyme, E367 is responsible for catalytic activity |
391302 |
| 1.3.8.1 | E368D |
mutant exhibits enzyme activity |
391307 |
