Literature summary for 3.1.6.13 extracted from

Sukegawa-Hayasaka, K.; Kato, Z.; Nakamura, H.; Tomatsu, S.; Fukao, T.; Kuwata, K.; Orii, T.; Kondo, N.
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis (2006), J. Inherit. Metab. Dis., 29, 755-761.

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Application

Application	Comment	Organism
medicine	analysis of 11 patients with mutations in the IDS gene leading to mucopolysaccharidosis type II. Structural alteration in the IDS protein results in its rapid degradation and/or insufficiency in processing	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
expression in CHO cell	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A85T	mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 1.2% residual activity, presence of both the precursor form and processed form of enzyme	Homo sapiens
C84S	artificial mutation in predicted active site. No enzymic acitivity, presence of both the precursor form and processed form of enzyme	Homo sapiens
C84T	artificial mutation in predicted active site. No enzymic acitivity, presence of both the precursor form and processed form of enzyme	Homo sapiens
P86L	mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme	Homo sapiens
Q531X	mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 2.4% residual activity, presence of a truncated 68000 Da protein form	Homo sapiens
R468L	mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme	Homo sapiens
R468Q	mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme	Homo sapiens
R48P	mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 0.33% residual activity, presence of both the precursor form and processed form of enzyme	Homo sapiens
S333L	mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme	Homo sapiens
S349I	mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme	Homo sapiens
W337R	mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 0.2% residual activity, presence of both the precursor form and processed form of enzyme	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with mucopolysaccharidosis type II, i.e. Hunter disease	-

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Release 2023.1 (January 2023)