Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.2.1.76 extracted from

  • Sugawara, K.; Saito, S.; Ohno, K.; Okuyama, T.; Sakuraba, H.
    Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I (2008), J. Hum. Genet., 53, 467-474.
    View publication on PubMed

Application

Application Comment Organism
medicine as there is a difference in IDUA structural change between the severe mucopolysaccharidosis type I group and the attenuated one, except for a couple of mutations, structural analysis can help predict the clinical outcome of the disease Homo sapiens

Protein Variants

Protein Variants Comment Organism
A160D severe mucopolysaccharidosis type I phenotype Homo sapiens
A319V attenuated mucopolysaccharidosis type I phenotype Homo sapiens
A327P severe mucopolysaccharidosis type I phenotype Homo sapiens
A75T severe mucopolysaccharidosis type I phenotype Homo sapiens
A79V intermediate mucopolysaccharidosis type I phenotype Homo sapiens
C205Y attenuated mucopolysaccharidosis type I phenotype Homo sapiens
D315Y severe mucopolysaccharidosis type I phenotype Homo sapiens
D349Y severe mucopolysaccharidosis type I phenotype Homo sapiens
E178K intermediate mucopolysaccharidosis type I phenotype Homo sapiens
E182K severe mucopolysaccharidosis type I phenotype Homo sapiens
G208D severe mucopolysaccharidosis type I phenotype Homo sapiens
G208V severe mucopolysaccharidosis type I phenotype Homo sapiens
G51D severe mucopolysaccharidosis type I phenotype Homo sapiens
H240R attenuated mucopolysaccharidosis type I phenotype Homo sapiens
H82P intermediate mucopolysaccharidosis type I phenotype Homo sapiens
I270S severe mucopolysaccharidosis type I phenotype Homo sapiens
L218P severe mucopolysaccharidosis type I phenotype Homo sapiens
L346R intermediate mucopolysaccharidosis type I phenotype Homo sapiens
L490P intermediate mucopolysaccharidosis type I phenotype Homo sapiens
N350I attenuated mucopolysaccharidosis type I phenotype Homo sapiens
P183R severe mucopolysaccharidosis type I phenotype Homo sapiens
P496L intermediate mucopolysaccharidosis type I phenotype Homo sapiens
P496R severe mucopolysaccharidosis type I phenotype Homo sapiens
Q380R attenuated mucopolysaccharidosis type I phenotype Homo sapiens
R363C severe mucopolysaccharidosis type I phenotype Homo sapiens
R383H attenuated mucopolysaccharidosis type I phenotype Homo sapiens
R489P severe mucopolysaccharidosis type I phenotype Homo sapiens
R492P attenuated mucopolysaccharidosis type I phenotype Homo sapiens
R89Q attenuated mucopolysaccharidosis type I phenotype Homo sapiens
S260F intermediate mucopolysaccharidosis type I phenotype Homo sapiens
T364M intermediate mucopolysaccharidosis type I phenotype Homo sapiens
T366P severe mucopolysaccharidosis type I phenotype Homo sapiens
T388R severe mucopolysaccharidosis type I phenotype Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
alpha-L-iduronidase
-
Homo sapiens
IDUA
-
Homo sapiens