EC Number   |
Protein Variants |
Reference |
|---|
    2.8.3.5 | C456F |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
738807 |
| 2.8.3.5 | DELTA249-254 |
delta-SCOT, deletion mutant, residues 249-254 are removed |
660636 |
| 2.8.3.5 | E273X |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
724424, 738807 |
| 2.8.3.5 | G219E |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
738807 |
| 2.8.3.5 | G324E |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
738807 |
| 2.8.3.5 | L327P |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
738807 |
| 2.8.3.5 | L327P |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency and retains 4.7% residual activity |
724424 |
| 2.8.3.5 | L429F |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
738807 |
| 2.8.3.5 | M388V |
the mutation is associated with succinyl-CoA:3-ketoacid CoA transferase deficiency |
738807 |
| 2.8.3.5 | more |
identification of point mutation leading to enzyme inactivation, and deficiency causing severe ketoacidosis in vivo, some mutations lead to highly reduced mRNA and enzyme levels, overview |
676034 |
