Literature summary for 3.10.1.1 extracted from

Muschol, N.; Storch, S.; Ballhausen, D.; Beesley, C.; Westermann, J.C.; Gal, A.; Ullrich, K.; Hopwood, J.J.; Winchester, B.; Braulke, T.
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A (2004), Hum. Mutat., 23, 559-566.

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Cloned(Commentary)

Cloned (Comment)	Organism
expression of wild-type and mutant enzymes in BHK or CHO cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G191R	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity	Homo sapiens
L163P	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity	Homo sapiens
R233X	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity	Homo sapiens
R433W	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity	Homo sapiens
R74C	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity	Homo sapiens
S106R	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows 3.3% of wild-type activity	Homo sapiens
Y403del	mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51688	-	-

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Release 2023.1 (January 2023)