EC Number   |
Protein Variants |
Reference |
|---|
    2.7.6.2 | D100N |
mutation reduces turnover-number markedly |
642743 |
| 2.7.6.2 | D133N |
mutation causes a selective decrease in the ratio of turnover-number to Km-value for thiamine |
642743 |
| 2.7.6.2 | D222H |
naturally occurring homozygous TPK1 mutation in a patient with enzyme deficiency suffering neurological disorder |
739080 |
| 2.7.6.2 | D71N |
mutation reduces turnover-number markedly |
642743 |
| 2.7.6.2 | D73N |
mutation reduces turnover-number markedly |
642743 |
| 2.7.6.2 | more |
construction of a double knockout mutant lacking isozymes TPK1 and TPK2, the mutant shows severely depressed levels of TPP and elevated levels of free thiamine compared to the wild-type enzyme |
676560 |
| 2.7.6.2 | more |
three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight, overview |
695592 |
| 2.7.6.2 | Q96E |
mutation causes an 2.5fold increase in the ratio of turnover-number to Km-value for thiamine compared to the wild-type |
642743 |
| 2.7.6.2 | R131G |
mutation decreases the ratio of turnover-number to Km-value for ATP |
642743 |
| 2.7.6.2 | S160L |
naturally occurring homozygous TPK1 mutation in a patient with enzyme deficiency suffering neurological disorder. Early thiamine supplementation prevents encephalopathic episodes and improved developmental progression of Patient 1, emphasizing the importance of early diagnosis and treatment of TPK deficiency. The p.Ser160Leu mutation is predicted to interferewith TPK dimerization, which may be another mechanism for the disease |
739080 |
