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	additional information	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	additional information	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