EC Number   |
Protein Variants |
Reference |
|---|
    1.5.5.1 | A84T/S307C |
mutations identified in a chinese woman with late-onset glutaric aciduria type II. The muscle biopsy of the patient reveals lipid storage myopathy. Blood biochemical test and urine organic acid analyses are consistent with glutaric aciduria type II |
765301 |
| 1.5.5.1 | C561A |
mutant enzyme has no ubiquinone reductase activity |
392489 |
| 1.5.5.1 | D218N |
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
656809 |
| 1.5.5.1 | F231C |
naturally occuring mutation, the feline patient-specific mutation c.692T>G (p.F231C) in enzyme ETFDH in feline ETFDH is completely conserved in eukaryotes, and is located on the apical surface of enzyme ETFDH, receiving electrons from electron-transferring flavoprotein (ETF) causing multiple acyl-CoA dehydrogenation deficiency (MADD) in the cat, phenotype, overview |
743186 |
| 1.5.5.1 | G362E |
mutation occurs in one of two beta-sheets that form the structure of the FAD binding domain likely disrupting the secondary structur. Phenotype of homozygous let-721 mutant is maternal effects lethality. F1 homozygotes have no gross morphological or developmental defects. The maternal effect lethal manifests as the self-fertilized offspring arrest as unhatched embryos. F1 worms are also self semi-sterile, as unmated homozygous mutants produce significantly fewer embryos than wild-type worms |
705748 |
| 1.5.5.1 | G611E |
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
656809 |
| 1.5.5.1 | I31T |
neutral naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no effect on enzyme activity or expression, occurs together with other mutantions, overview |
656809 |
| 1.5.5.1 | L262F |
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
656809 |
| 1.5.5.1 | L334P |
homo- or heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts |
656809 |
| 1.5.5.1 | L334P/Q222P |
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II |
656809 |
