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Literature summary for 3.1.6.12 extracted from

  • Saito, S.; Ohno, K.; Sugawara, K.; Sakuraba, H.
    Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI (2008), Mol. Genet. Metab., 93, 419-425.
    View publication on PubMed
Search for more literature for 3.1.6.12

Protein Variants

Protein Variants Comment Organism
C405Y associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
C447F associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
C447S associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
C521Y causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
D54N associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
D83Y associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
G137V causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
G144R causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
G171D associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
G171S associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
G302R associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
H393P causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
H430R associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
I296N associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
K439E associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
L360P associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
L472P associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
L72R associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
L98P associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
P116H associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
P531R associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
R102H associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
R152W associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
R434I associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
R95Q causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
S384N associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
S65F associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
T442M associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
T442R associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens
W146L associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
W146R associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
W146S associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
W353R associated with the severe phenotype of mucopolysaccharidosis type VI Homo sapiens
Y210C causes small structural changes, associated with the attenuated phenotype of mucopolysaccharidosis type VI Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P15848
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-

Synonyms

Synonyms Comment Organism
N-acetylgalactosamine-4-sulfatase
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 Homo sapiens