Literature summary for 4.2.3.12 extracted from

Liu, T.T.; Hsiao, K.J.; Lu, S.F.; Wu, S.J.; Wu, K.F.; Chiang, S.H.; Liu, X.Q.; Chen, R.G.; Yu, W.M.
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency (1998), Hum. Mutat., 11, 76-83.

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Protein Variants

Protein Variants	Comment	Organism
D96N	mutant enzyme that causes PTPS deficiency	Homo sapiens
R25G	mutant enzyme that causes PTPS deficiency	Homo sapiens
T106M	mutant enzyme that causes PTPS deficiency	Homo sapiens
V56M	mutant enzyme that causes PTPS deficiency	Homo sapiens
V70D	mutant enzyme that causes PTPS deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)