EC Number   |
Protein Variants |
Reference  |
|---|
   1.2.4.4 | more |
missense mutation in E1b subunits that cause maple syrup urine disease: R114W-alpha, T166M-alpha, R220W-alpha. N222S-alpha. M64T-alpha. G204S-alpha. A208T-alpha. T265R-alpha, I281T-alpha, N126Y-beta, Q145K-alpha, H156R-beta, A209D-alpha, A240P-alpha. G245R-alpha, R252H-alpha, F364C-alpha, Y368C-alpha and Y393N-alpha |
349040 |
| 1.2.4.4 | S293A |
mutation in the alpha-subunit, nearly 12fold increase in Km-value, no inactivation after incubation with ATP |
349085 |
| 1.2.4.4 | S293E |
mutation in the alpha-subunit, completely inactive enzyme |
349085 |
| 1.2.4.4 | S293E/S303E |
mutation in the alpha-subunit, no activity |
349085 |
| 1.2.4.4 | S303A |
mutation in the alpha-subunit, no effect upon enzyme activity |
349085 |
| 1.2.4.4 | S303E |
mutation in the alpha-subunit, no effect upon enzyme activity |
349085 |
| 1.2.4.4 | S313A |
twofold increase in Km-value but no change in turnover-number |
349086 |
| 1.2.4.4 | S315A |
mutation has no effect on Km-value or turnover-number |
349086 |
| 1.2.4.4 | S319A |
mutation has no effect on Km-value or turnover-number |
349086 |
| 1.2.4.4 | D296A |
inactive enzyme, no ability of component E1 apoenzyme to reconstitute with thiamine diphosphate |
349090 |
