Literature summary for 3.1.6.13 extracted from

Keeratichamroen, S.; Ketudat Cairns, J.R.; Wattanasirichaigoon, D.; Wasant, P.; Ngiwsara, L.; Suwannarat, P.; Pangkanon, S.; Kuptanon, J.; Tanpaiboon, P.; Rujirawat, T.; Liammongkolkul, S.; Svasti, J.
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome (2008), J. Inherit. Metab. Dis., Suppl. 2, 303-311.

Search for more literature for 3.1.6.13

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
D148V	the mutation perturbs the structure or molecular interactions of the enzyme, leading to loss of enzyme activity and severe phenotype of disease	Homo sapiens
E254X	the mutation produces truncated protein lacking 54% of the IDS protein, which leads to severe clinical presentations	Homo sapiens
G140R	the mutant has 22% of the activity from cells expressing wild type IDS	Homo sapiens
G224A	inactive mutant, causing severe phenotype of disease	Homo sapiens
K227E	the mutation perturbs the structure or molecular interactions of the enzyme, leading to loss of enzyme activity and severe phenotype of disease	Homo sapiens
P86L	the mutation activates multiple cryptic splice sites, resulting in aberrantly spliced transcripts of IDS	Homo sapiens
R101C	the mutant shows 97% of the wild type activity	Homo sapiens
R443X	the mutation produces truncated protein lacking 20% of the IDS protein, which leads to severe clinical presentations	Homo sapiens
R468Q	the mutant shows 1.4% of the wild type activity	Homo sapiens
W337X	the mutation produces truncated protein lacking 39% of the IDS protein, which leads to severe clinical presentations	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P22304	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
leukocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl-alpha-iduronide 2-sulfate + H2O	-	Homo sapiens	4-methylumbelliferyl-alpha-iduronide + sulfate	-	?
dermatan sulfate + H2O	-	Homo sapiens	dermatan + sulfate	-	?
heparan sulfate + H2O	-	Homo sapiens	dermatan + sulfate	-	?

Synonyms

Synonyms	Comment	Organism
IDS	-	Homo sapiens

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Release 2023.1 (January 2023)