EC Number   |
Protein Variants |
Reference |
|---|
   1.5.1.15 | C677T |
one of several polymorphisms, leads to increased risk of hepatocellular carcinoma in patients with alcoholic cirrhosis, determination of genotypes in liver transplant patients with cirrhosis with and without hepatocellular carcinoma and in healthy persons |
655183 |
| 1.5.1.15 | D133A |
cosubstrate NAD+, 1.7% of wild-type activity, cosubstrate NADP+, 5.5% of wild-type activity |
674480 |
| 1.5.1.15 | D133E |
no enzymic activity |
674480 |
| 1.5.1.15 | D133N |
cosubstrate NAD+, 20.4% of wild-type activity, cosubstrate NADP+, 82.2% of wild-type activity |
674480 |
| 1.5.1.15 | D133S |
cosubstrate NAD+, 17.8% of wild-type activity, cosubstrate NADP+, 34.5% of wild-type activity |
674480 |
| 1.5.1.15 | D190A |
no enzymic activity |
674480 |
| 1.5.1.15 | D190E |
cosubstrate NAD+, 1% of wild-type activity |
674480 |
| 1.5.1.15 | D190N |
cosubstrate NAD+, 16% of wild-type activity |
674480 |
| 1.5.1.15 | D190S |
no enzymic activity |
674480 |
| 1.5.1.15 | K56Q |
inactivation of methenyltetrahydrofolate cyclohydrolase activity of bifunctional enzyme. Transfection with mutant enzyme rescues auxotrophy of enzyme-deficient fibroblasts, but only poorly. Rescued cells demonstrate a decrease in the ratio of incorporation of exogenous formate to serine |
671588 |
