Literature summary for 3.1.6.13 extracted from

Chang, J.; Lin, S.; Chuang, C.; Lee-Chen, G.
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II (2007), Clin. Chim. Acta, 384, 167-170.

Search for more literature for 3.1.6.13

Application

Application	Comment	Organism
medicine	analysis of mutations identified in patients with mucopolysaccharidosis type II. Mutations lead to aberrant precursor forms and loss of normal maturation of precursor. Mutant enzymes exhibit 2-4% of wild-type activity	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	analysis of mutations identified in patients with mucopolysaccharidosis type II. Mutations lead to aberrant precursor forms and loss of normal maturation of precursor. Mutant enzymes exhibit 2-4% of wild-type activity	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
55000	-	x * 78000, precursor form, x * 46000-48000 and x * 55000, mature forms, SDS-PAGE	Homo sapiens
78000	-	x * 78000, precursor form, x * 46000-48000 and x * 55000, mature forms, SDS-PAGE	Homo sapiens

Organism

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

Posttranslational Modification

Posttranslational Modification	Comment	Organism
proteolytic modification	proteolytic maturation of 78000 Da precursor form to 46000-48000 and 55000 Da mature forms	Homo sapiens

Subunits

Subunits	Comment	Organism
?	x * 78000, precursor form, x * 46000-48000 and x * 55000, mature forms, SDS-PAGE	Homo sapiens

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Release 2023.1 (January 2023)