EC Number |
Protein Variants |
Reference |
---|
6.4.1.4 | F417Y |
beta-subunit mutant retains activity, kcat/Km increased compared to wild-type, kcat (3-methylcrotonoyl-CoA) increased compared to wild-type, Km (3-methylcrotonoyl-CoA) increased compared to wild-type |
727797 |
6.4.1.4 | F417Y/G423A |
beta-subunit mutant retains activity, kcat/Km similar to wild-type, kcat (3-methylcrotonoyl-CoA) increased compared to wild-type, Km (3-methylcrotonoyl-CoA) increased compared to wild-type |
727797 |
6.4.1.4 | G423A |
beta-subunit mutant retains activity, kcat/Km decreased compared to wild-type, kcat (3-methylcrotonoyl-CoA) decreased compared to wild-type, Km (3-methylcrotonoyl-CoA) slightly decreased compared to wild-type |
727797 |
6.4.1.4 | G46E |
the mutation of the MCCA gene is associated with methylcrotonylglycinuria |
716236 |
6.4.1.4 | G517R |
the mutation of the MCCB gene is associated with methylcrotonylglycinuria |
716236 |
6.4.1.4 | L355F |
the mutation of the MCCB gene is associated with methylcrotonylglycinuria |
716236 |
6.4.1.4 | M169K |
mutant with lack of carboxylation activity |
656207 |
6.4.1.4 | more |
the IVS7-1GNA splice site mutation of the MCCB gene is associated with methylcrotonylglycinuria and shows 31fold reduced activity compared to the wild type |
716236 |
6.4.1.4 | Q477R |
the mutation of the MCCB gene is associated with methylcrotonylglycinuria |
716236 |
6.4.1.4 | R338Q |
mutant with lack of carboxylation activity |
656207 |