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3.1.6.13: iduronate-2-sulfatase

This is an abbreviated version!
For detailed information about iduronate-2-sulfatase, go to the full flat file.

Word Map on EC 3.1.6.13

Reaction

L-iduronate-2-sulfate
+
H2O
=
L-iduronate
+
sulfate

Synonyms

2-sulfo-L-iduronate 2-sulfatase, chondroitinsulfatase, elaprase, Hunter corrective factor, I2S, IDS, IDS-Like, IDS-like enzyme, iduronate 2-sulfatase, iduronate 2-sulfate sulfatase-like, iduronate 2-sulfate-like enzyme, iduronate sulfatase, iduronate sulfate sulfatase, iduronate-2-sulfatase, iduronate-2-sulfate sulfatase, iduronate-2-sulphatase, iduronide-2-sulfate sulfatase, idurono-2-sulfatase, idursulfase, L-iduronate 2-sulfate sulfatase, L-idurono sulfate sulfatase, sulfatase, L-idurono-, sulfo-L-iduronate sulfatase, sulfoiduronate sulfohydrolase

ECTree

     3 Hydrolases
         3.1 Acting on ester bonds
             3.1.6 Sulfuric-ester hydrolases
                3.1.6.13 iduronate-2-sulfatase

Engineering

Engineering on EC 3.1.6.13 - iduronate-2-sulfatase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A85T
-
mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 1.2% residual activity, presence of both the precursor form and processed form of enzyme
C84A
-
loss of activity in mutant
C84S
-
artificial mutation in predicted active site. No enzymic acitivity, presence of both the precursor form and processed form of enzyme
D148N
-
mutation identified in patient with mucopolysaccharidosis II
D148V
the mutation perturbs the structure or molecular interactions of the enzyme, leading to loss of enzyme activity and severe phenotype of disease
D269V
-
mutation identified in patient with mucopolysaccharidosis II
D69V
-
mutation identified in patient with mucopolysaccharidosis II
E254X
the mutation produces truncated protein lacking 54% of the IDS protein, which leads to severe clinical presentations
G140R
the mutant has 22% of the activity from cells expressing wild type IDS
G224A
inactive mutant, causing severe phenotype of disease
K227E
the mutation perturbs the structure or molecular interactions of the enzyme, leading to loss of enzyme activity and severe phenotype of disease
L339P
-
L339P is a mucopolysaccharidosis type II-causing mutation affecting maturation of the protein, the missense variant has stable mRNA but the residual enzyme activity remains 1.2% of wild type level
L339R
-
the missense variant has stable mRNA but the residual enzyme activity remains 2.3% of wild type level
Q389X
-
the nonsense mutation leads to premature chain termination at codom 398 and causes mucopolysaccharidosis type II
Q531X
-
mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 2.4% residual activity, presence of a truncated 68000 Da protein form
R101C
the mutant shows 97% of the wild type activity
R443X
the mutation produces truncated protein lacking 20% of the IDS protein, which leads to severe clinical presentations
R468L
-
mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme
R468Q
R468W
-
mutations identified in Taiwanese patients with mucopolysaccharidosis type I, mutations R468Q and R468W together account for 48% of mutations found
R48P
-
mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 0.33% residual activity, presence of both the precursor form and processed form of enzyme
R88C
-
mutation identified in patient with mucopolysaccharidosis II
R88H
-
13.7% residual enzyme activity in comparison to wild-type enzyme
R88P
-
total absence of residual activity
S333L
-
mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme
S349I
-
mutation identified in patient with mucopolysaccharidosis type II, severe phenotype. No residual activity, presence of precursor form of enzyme
S369X
-
the nonsense mutation leads to premature chain termination at codom 369 and causes mucopolysaccharidosis type II
W337R
-
mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 0.2% residual activity, presence of both the precursor form and processed form of enzyme
W337X
the mutation produces truncated protein lacking 39% of the IDS protein, which leads to severe clinical presentations
additional information