Literature summary for 3.1.6.13 extracted from

Lin, S.P.; Chang, J.H.; Lee-Chen, G.J.; Lin, D.S.; Lin, H.Y.; Chuang, C.K.
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers (2006), Clin. Chim. Acta, 369, 29-34.

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Application

Application	Comment	Organism
medicine	identification of 10 different mutations in Taiwanese patients with mucopolysaccharidosis type I, mutations R468Q and R468W together accounting for 48% of mutations found. Due to overlapping significant wide range of enzyme activity in normal controls and in carriers of mutations, the level of enzyme activity cannot be used alone for carrier detection	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of 10 different mutations in Taiwanese patients with mucopolysaccharidosis type I, mutations R468Q and R468W together accounting for 48% of mutations found	Homo sapiens
R468Q	mutations identified in Taiwanese patients with mucopolysaccharidosis type I, mutations R468Q and R468W together account for 48% of mutations found	Homo sapiens
R468W	mutations identified in Taiwanese patients with mucopolysaccharidosis type I, mutations R468Q and R468W together account for 48% of mutations found	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Taiwanese patients with mucopolysaccharidosis type II	-

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Release 2023.1 (January 2023)