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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
alpha-L-iduronidase | - |
Homo sapiens |
IDUA | - |
Homo sapiens |