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Entry version 215 (25 May 2022)
Sequence version 1 (01 Aug 1991)
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Protein

Iduronate 2-sulfatase

Gene

IDS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate.

3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+1 PublicationNote: Binds 1 Ca2+ ion per subunit.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=327 µM for O-(alpha-L-idopyranosyluronic acid-2-sulfate)-(1->4)-2,5 anhydromannose-6-sulfate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi45CalciumCombined sources1 Publication1
Metal bindingi46CalciumCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei84Nucleophile1 Publication1
Metal bindingi84Calcium; via 3-oxoalanineCombined sources1 Publication1
Active sitei138By similarity1
Metal bindingi334CalciumCombined sources1 Publication1
Metal bindingi335Calcium; via tele nitrogenCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
LigandCalcium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.6.13, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P22304

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2024096, HS-GAG degradation
R-HSA-2024101, CS/DS degradation
R-HSA-2206296, MPS II - Hunter syndrome

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P22304

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P22304

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Iduronate 2-sulfatase (EC:3.1.6.133 Publications)
Alternative name(s):
Alpha-L-iduronate sulfate sulfatase
Short name:
Idursulfase
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IDS
Synonyms:SIDS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:5389, IDS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300823, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P22304

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000010404

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mucopolysaccharidosis 2 (MPS2)34 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02691541L → P in MPS2; mild form; increase in enzyme activity observed in transfected cells. 1 Publication1
Natural variantiVAR_02691441Missing in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_00731345D → N in MPS2. 1 Publication1
Natural variantiVAR_00731448R → P in MPS2; mild form. 2 PublicationsCorresponds to variant dbSNP:rs1569560528EnsemblClinVar.1
Natural variantiVAR_00731554Y → D in MPS2; severe form. 1 Publication1
Natural variantiVAR_00731663N → D in MPS2; mild/intermediate form. 4 PublicationsCorresponds to variant dbSNP:rs193302909EnsemblClinVar.1
Natural variantiVAR_00731768A → E in MPS2; severe. 1 Publication1
Natural variantiVAR_02691671S → N in MPS2; mild form. 1 PublicationCorresponds to variant dbSNP:rs113993954Ensembl.1
Natural variantiVAR_00899871S → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_02691773L → F in MPS2; severe form. 1 Publication1
Natural variantiVAR_00731879A → E in MPS2; mild form. 1 Publication1
Natural variantiVAR_00899982A → E in MPS2. 1 Publication1
Natural variantiVAR_02691882A → V in MPS2; no significant enzyme activity. 1 Publication1
Natural variantiVAR_02691985A → S in MPS2; severe form. 1 Publication1
Natural variantiVAR_00731985A → T in MPS2; mild to severe forms. 5 PublicationsCorresponds to variant dbSNP:rs113993949EnsemblClinVar.1
Natural variantiVAR_00732086P → L in MPS2; intermediate to severe forms. 4 PublicationsCorresponds to variant dbSNP:rs1557340280EnsemblClinVar.1
Natural variantiVAR_00732186P → Q in MPS2. 1 Publication1
Natural variantiVAR_00732286P → R in MPS2; severe form. 2 Publications1
Natural variantiVAR_00732387S → N in MPS2; mild form. 1 Publication1
Natural variantiVAR_00732488R → C in MPS2; severe form. 4 PublicationsCorresponds to variant dbSNP:rs398123249EnsemblClinVar.1
Natural variantiVAR_02692088R → G in MPS2; severe form. 1 Publication1
Natural variantiVAR_00732588R → H in MPS2; intermediate/severe form; higher affinity for the artificial substrate; poor transport to lysosomes. 6 Publications1
Natural variantiVAR_00732688R → L in MPS2; severe form. 1 Publication1
Natural variantiVAR_00732788R → P in MPS2; severe form; total absence of residual activity; poor transport to lysosomes. 2 Publications1
Natural variantiVAR_02692189V → F in MPS2. 1 Publication1
Natural variantiVAR_00732892L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_00732994G → D in MPS2; mild form. 1 Publication1
Natural variantiVAR_02692295R → G in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_02692395R → T in MPS2; mild form. 1 Publication1
Natural variantiVAR_00900095Missing in MPS2; severe form. 1 Publication1
Natural variantiVAR_007330102L → R in MPS2; mild form. 1 Publication1
Natural variantiVAR_007331108Y → C in MPS2; mild form. 1 Publication1
Natural variantiVAR_026924108Y → S in MPS2; mild form. 1 Publication1
Natural variantiVAR_007332115N → Y in MPS2. 1 Publication1
Natural variantiVAR_026926117S → Y in MPS2; severe form. 1 Publication1
Natural variantiVAR_026925117Missing in MPS2; severe form; deleterious mutation; results in an inactive enzyme. 4 PublicationsCorresponds to variant dbSNP:rs483352905Ensembl.1
Natural variantiVAR_007333118T → I in MPS2; mild to severe forms; greatly reduced activity; poor transport to lysosomes. 3 Publications1
Natural variantiVAR_026927118Missing in MPS2; severe form. 1 Publication1
Natural variantiVAR_007334120P → H in MPS2; mild form. Corresponds to variant dbSNP:rs193302911EnsemblClinVar.1
Natural variantiVAR_007335120P → R in MPS2; severe form. 1 PublicationCorresponds to variant dbSNP:rs193302911EnsemblClinVar.1
Natural variantiVAR_026928121Q → H in MPS2; severe form. 1 Publication1
Natural variantiVAR_026929121Q → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007336125E → V in MPS2; mild form. 1 Publication1
Natural variantiVAR_007337132S → W in MPS2; severe form. 2 Publications1
Natural variantiVAR_007338134G → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007339135K → N in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007340135K → R in MPS2; intermediate form. 1 PublicationCorresponds to variant dbSNP:rs104894861EnsemblClinVar.1
Natural variantiVAR_026930138H → D in MPS2; mild/intermediate form. 1 Publication1
Natural variantiVAR_026931140G → V in MPS2; no significant enzyme activity. 1 Publication1
Natural variantiVAR_007341143S → F in MPS2. 2 Publications1
Natural variantiVAR_026932148D → H in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007342159H → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_007343159Missing in MPS2; intermediate form. 1
Natural variantiVAR_007344160P → R in MPS2. Corresponds to variant dbSNP:rs104894856EnsemblClinVar.1
Natural variantiVAR_026933181N → I in MPS2; mild form. 1 Publication1
Natural variantiVAR_026934182L → P in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007345184C → F in MPS2; mild/intermediate form. 1 Publication1
Natural variantiVAR_007346184C → W in MPS2. 1 Publication1
Natural variantiVAR_007347196L → S in MPS2; mild/intermediate form. 2 PublicationsCorresponds to variant dbSNP:rs398123250EnsemblClinVar.1
Natural variantiVAR_007348198D → G in MPS2; mild form. 1 Publication1
Natural variantiVAR_026935205A → P in MPS2; intermediate form. 1 PublicationCorresponds to variant dbSNP:rs864622779EnsemblClinVar.1
Natural variantiVAR_007349221L → P in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007350224G → E in MPS2; severe form. 1 Publication1
Natural variantiVAR_007351225Y → D in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_026936227K → M in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007352227K → Q in MPS2; severe form. 1
Natural variantiVAR_007353228P → L in MPS2. 1 Publication1
Natural variantiVAR_026937228P → T in MPS2; severe form. 1 Publication1
Natural variantiVAR_026938229H → R in MPS2; intermediate/severe form. 2 PublicationsCorresponds to variant dbSNP:rs193302905Ensembl.1
Natural variantiVAR_007354229H → Y in MPS2; severe form. 1 Publication1
Natural variantiVAR_026939231P → L in MPS2; mild form. 1 Publication1
Natural variantiVAR_007355252D → N in MPS2. 1 PublicationCorresponds to variant dbSNP:rs146458524EnsemblClinVar.1
Natural variantiVAR_026940259L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_009001264Y → N in MPS2. 1 Publication1
Natural variantiVAR_026941265N → I in MPS2; intermediate form; deleterious mutation; residual activity of 7.5% of the wild-type. 1 Publication1
Natural variantiVAR_007356266P → H in MPS2; mild form. 1 Publication1
Natural variantiVAR_007357266P → R in MPS2. 1 Publication1
Natural variantiVAR_007358269D → V in MPS2. 1 PublicationCorresponds to variant dbSNP:rs1085308006EnsemblClinVar.1
Natural variantiVAR_007359293Q → H in MPS2; mild form. 1 Publication1
Natural variantiVAR_026942299S → I in MPS2; mild form. 1 Publication1
Natural variantiVAR_026943308D → E in MPS2; mild form. 1 Publication1
Natural variantiVAR_026944308D → N in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_026945309T → A in MPS2; severe form. 1 PublicationCorresponds to variant dbSNP:rs145807417EnsemblClinVar.1
Natural variantiVAR_026946313R → C in MPS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201048643EnsemblClinVar.1
Natural variantiVAR_026947314L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_007360333S → L in MPS2; severe form. 7 PublicationsCorresponds to variant dbSNP:rs104894853EnsemblClinVar.1
Natural variantiVAR_009002334D → G in MPS2; severe form. 1 Publication1
Natural variantiVAR_026948334D → N in MPS2; mild form. 1 Publication1
Natural variantiVAR_026949335H → R in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_026950336G → E in MPS2; severe from. 1 Publication1
Natural variantiVAR_026951336G → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007361337W → R in MPS2; intermediate form. 2 Publications1
Natural variantiVAR_026952339L → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007362340G → D in MPS2; mild form. 1 Publication1
Natural variantiVAR_008134341E → K in MPS2; severe form. 2 Publications1
Natural variantiVAR_008135342H → Y in MPS2; mild form. 1 Publication1
Natural variantiVAR_007363345W → C in MPS2; mild form. 1 Publication1
Natural variantiVAR_007364346A → D in MPS2; mild/severe form. 1 Publication1
Natural variantiVAR_007365346A → V in MPS2; mild/severe form. 1 Publication1
Natural variantiVAR_007366347K → I in MPS2. 1 Publication1
Natural variantiVAR_026953347K → Q in MPS2; severe form. 1 Publication1
Natural variantiVAR_007367347K → T in MPS2; severe form; deleterious mutation confirmed. 2 Publications1
Natural variantiVAR_007368348Y → H in MPS2. 1 Publication1
Natural variantiVAR_007369349S → I in MPS2; severe form. 2 Publications1
Natural variantiVAR_007370358P → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007371403L → R in MPS2; intermediate form. 2 Publications1
Natural variantiVAR_026954410L → P in MPS2. 1 Publication1
Natural variantiVAR_007372422C → G in MPS2; mild form. 2 PublicationsCorresponds to variant dbSNP:rs199422229EnsemblClinVar.1
Natural variantiVAR_026955422C → R in MPS2; severe form. 1 PublicationCorresponds to variant dbSNP:rs199422229EnsemblClinVar.1
Natural variantiVAR_007373432C → Y in MPS2; severe form. 1 Publication1
Natural variantiVAR_007374434E → K in MPS2. 1 Publication1
Natural variantiVAR_009003465Q → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_026956467P → L in MPS2; severe form. 2 PublicationsCorresponds to variant dbSNP:rs1602725808EnsemblClinVar.1
Natural variantiVAR_007375468R → G in MPS2; mild to severe forms. 1
Natural variantiVAR_007376468R → L in MPS2; mild to severe forms. 3 PublicationsCorresponds to variant dbSNP:rs113993946EnsemblClinVar.1
Natural variantiVAR_007377468R → Q in MPS2; severe/intermediate form; greatly reduced activity; poor transport to lysosomes. 12 PublicationsCorresponds to variant dbSNP:rs113993946EnsemblClinVar.1
Natural variantiVAR_007378468R → W in MPS2; mild to severe forms. 9 PublicationsCorresponds to variant dbSNP:rs199422231EnsemblClinVar.1
Natural variantiVAR_007379469P → H in MPS2; mild form. 1 Publication1
Natural variantiVAR_007380478D → G in MPS2; mild form. 1 PublicationCorresponds to variant dbSNP:rs864622773EnsemblClinVar.1
Natural variantiVAR_007381478D → Y in MPS2; severe form. 1 Publication1
Natural variantiVAR_026957480P → L in MPS2; mild form. 1 Publication1
Natural variantiVAR_026958480P → Q in MPS2; mild form. 1 Publication1
Natural variantiVAR_026959480P → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007382485I → K in MPS2. 1 Publication1
Natural variantiVAR_007383485I → R in MPS2; severe form. 2 Publications1
Natural variantiVAR_026960488 – 489MG → IA in MPS2; intermediate form; mutation A-489 confirmed as causative of MPS2. 2
Natural variantiVAR_026961490Y → S in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_008136491S → F in MPS2; mild form. 1 Publication1
Natural variantiVAR_007384502W → C in MPS2; severe form. 1 Publication1
Natural variantiVAR_007385502W → S in MPS2. Corresponds to variant dbSNP:rs199422228EnsemblClinVar.1
Natural variantiVAR_026962521E → K in MPS2; severe form. 1 Publication1
Natural variantiVAR_007386521E → V in MPS2; severe form. 3 Publications1
Natural variantiVAR_007387523Y → C in MPS2; mild form. 1 Publication1

Keywords - Diseasei

Disease variant, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
3423

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
IDS

MalaCards human disease database

More...
MalaCardsi
IDS
MIMi309900, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000010404

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
217093, Mucopolysaccharidosis type 2, attenuated form
217085, Mucopolysaccharidosis type 2, severe form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29636

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P22304, Tbio

Protein family/group databases

Allergome; a platform for allergen knowledge

More...
Allergomei
9623, Hom s Idursulfase

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09301, Chondroitin sulfate

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IDS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
124174

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003342826 – 331 Publication8
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003342934 – 455Iduronate 2-sulfatase 42 kDa chainAdd BLAST422
ChainiPRO_0000033430456 – 550Iduronate 2-sulfatase 14 kDa chainAdd BLAST95

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei843-oxoalanine (Cys)1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi115N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi144N-linked (GlcNAc...) asparagineCombined sources1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi171 ↔ 184Combined sources1 Publication
Glycosylationi246N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi280N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi325N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi422 ↔ 432Combined sources1 Publication
Glycosylationi513N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi537N-linked (GlcNAc...) asparagineCombined sources1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Synthesized as a 75-kDa precursor form in the endoplasmic reticulum (ER), and then processed by proteolytic cleavage through various intermediates to yield a 55-kDa mature form, with the release of an 18 kDa polypeptide.1 Publication
The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P22304

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P22304

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P22304

MaxQB - The MaxQuant DataBase

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MaxQBi
P22304

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P22304

PeptideAtlas

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PeptideAtlasi
P22304

PRoteomics IDEntifications database

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PRIDEi
P22304

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
53975 [P22304-1]
53976 [P22304-2]
53977 [P22304-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
P22304-3 [P22304-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
P22304, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P22304

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P22304

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Liver, kidney, lung, and placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000010404, Expressed in endothelial cell and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P22304, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P22304, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000010404, Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:28593992). The 58-kDa mature form is composed of two chains resulting from proteolitic processing, the 42-kDa chain and the 14-kDa chain that remain stably associated and form the 58-kDa intermediate form which is enzymatically active (PubMed:28593992).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
109649, 145 interactors

Protein interaction database and analysis system

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IntActi
P22304, 31 interactors

Molecular INTeraction database

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MINTi
P22304

STRING: functional protein association networks

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STRINGi
9606.ENSP00000339801

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
P22304, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1550
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

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AlphaFoldDBi
P22304

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P22304

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3867, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156803

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_006332_9_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P22304

Identification of Orthologs from Complete Genome Data

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OMAi
PHLDAFA

Database of Orthologous Groups

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OrthoDBi
1353742at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P22304

TreeFam database of animal gene trees

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TreeFami
TF323156

Family and domain databases

Conserved Domains Database

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CDDi
cd16030, iduronate-2-sulfatase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.720.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017850, Alkaline_phosphatase_core_sf
IPR035874, IDS
IPR024607, Sulfatase_CS
IPR000917, Sulfatase_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00884, Sulfatase, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53649, SSF53649, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00523, SULFATASE_1, 1 hit
PS00149, SULFATASE_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P22304-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPPPRTGRGL LWLGLVLSSV CVALGSETQA NSTTDALNVL LIIVDDLRPS
60 70 80 90 100
LGCYGDKLVR SPNIDQLASH SLLFQNAFAQ QAVCAPSRVS FLTGRRPDTT
110 120 130 140 150
RLYDFNSYWR VHAGNFSTIP QYFKENGYVT MSVGKVFHPG ISSNHTDDSP
160 170 180 190 200
YSWSFPPYHP SSEKYENTKT CRGPDGELHA NLLCPVDVLD VPEGTLPDKQ
210 220 230 240 250
STEQAIQLLE KMKTSASPFF LAVGYHKPHI PFRYPKEFQK LYPLENITLA
260 270 280 290 300
PDPEVPDGLP PVAYNPWMDI RQREDVQALN ISVPYGPIPV DFQRKIRQSY
310 320 330 340 350
FASVSYLDTQ VGRLLSALDD LQLANSTIIA FTSDHGWALG EHGEWAKYSN
360 370 380 390 400
FDVATHVPLI FYVPGRTASL PEAGEKLFPY LDPFDSASQL MEPGRQSMDL
410 420 430 440 450
VELVSLFPTL AGLAGLQVPP RCPVPSFHVE LCREGKNLLK HFRFRDLEED
460 470 480 490 500
PYLPGNPREL IAYSQYPRPS DIPQWNSDKP SLKDIKIMGY SIRTIDYRYT
510 520 530 540 550
VWVGFNPDEF LANFSDIHAG ELYFVDSDPL QDHNMYNDSQ GGDLFQLLMP
Length:550
Mass (Da):61,873
Last modified:August 1, 1991 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEA1B713417280413
GO
Isoform 2 (identifier: P22304-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     337-343: WALGEHG → FLMRTNT
     344-550: Missing.

Show »
Length:343
Mass (Da):38,310
Checksum:i3C8D59915F8E8DD0
GO
Isoform 3 (identifier: P22304-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     294-312: RKIRQSYFASVSYLDTQVG → EDQSSTGFRLKTSSTRKYK
     313-550: Missing.

Show »
Length:312
Mass (Da):34,893
Checksum:i8084F40A273B575F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
O60597O60597_HUMAN
Iduronate 2-sulfatase
IDS
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RHJ1E5RHJ1_HUMAN
Iduronate 2-sulfatase
IDS
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YB91H0YB91_HUMAN
Iduronate 2-sulfatase
IDS
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02691541L → P in MPS2; mild form; increase in enzyme activity observed in transfected cells. 1 Publication1
Natural variantiVAR_02691441Missing in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_00731345D → N in MPS2. 1 Publication1
Natural variantiVAR_00731448R → P in MPS2; mild form. 2 PublicationsCorresponds to variant dbSNP:rs1569560528EnsemblClinVar.1
Natural variantiVAR_00731554Y → D in MPS2; severe form. 1 Publication1
Natural variantiVAR_00731663N → D in MPS2; mild/intermediate form. 4 PublicationsCorresponds to variant dbSNP:rs193302909EnsemblClinVar.1
Natural variantiVAR_00731768A → E in MPS2; severe. 1 Publication1
Natural variantiVAR_02691671S → N in MPS2; mild form. 1 PublicationCorresponds to variant dbSNP:rs113993954Ensembl.1
Natural variantiVAR_00899871S → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_02691773L → F in MPS2; severe form. 1 Publication1
Natural variantiVAR_00731879A → E in MPS2; mild form. 1 Publication1
Natural variantiVAR_00899982A → E in MPS2. 1 Publication1
Natural variantiVAR_02691882A → V in MPS2; no significant enzyme activity. 1 Publication1
Natural variantiVAR_02691985A → S in MPS2; severe form. 1 Publication1
Natural variantiVAR_00731985A → T in MPS2; mild to severe forms. 5 PublicationsCorresponds to variant dbSNP:rs113993949EnsemblClinVar.1
Natural variantiVAR_00732086P → L in MPS2; intermediate to severe forms. 4 PublicationsCorresponds to variant dbSNP:rs1557340280EnsemblClinVar.1
Natural variantiVAR_00732186P → Q in MPS2. 1 Publication1
Natural variantiVAR_00732286P → R in MPS2; severe form. 2 Publications1
Natural variantiVAR_00732387S → N in MPS2; mild form. 1 Publication1
Natural variantiVAR_00732488R → C in MPS2; severe form. 4 PublicationsCorresponds to variant dbSNP:rs398123249EnsemblClinVar.1
Natural variantiVAR_02692088R → G in MPS2; severe form. 1 Publication1
Natural variantiVAR_00732588R → H in MPS2; intermediate/severe form; higher affinity for the artificial substrate; poor transport to lysosomes. 6 Publications1
Natural variantiVAR_00732688R → L in MPS2; severe form. 1 Publication1
Natural variantiVAR_00732788R → P in MPS2; severe form; total absence of residual activity; poor transport to lysosomes. 2 Publications1
Natural variantiVAR_02692189V → F in MPS2. 1 Publication1
Natural variantiVAR_00732892L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_00732994G → D in MPS2; mild form. 1 Publication1
Natural variantiVAR_02692295R → G in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_02692395R → T in MPS2; mild form. 1 Publication1
Natural variantiVAR_00900095Missing in MPS2; severe form. 1 Publication1
Natural variantiVAR_007330102L → R in MPS2; mild form. 1 Publication1
Natural variantiVAR_007331108Y → C in MPS2; mild form. 1 Publication1
Natural variantiVAR_026924108Y → S in MPS2; mild form. 1 Publication1
Natural variantiVAR_007332115N → Y in MPS2. 1 Publication1
Natural variantiVAR_026926117S → Y in MPS2; severe form. 1 Publication1
Natural variantiVAR_026925117Missing in MPS2; severe form; deleterious mutation; results in an inactive enzyme. 4 PublicationsCorresponds to variant dbSNP:rs483352905Ensembl.1
Natural variantiVAR_007333118T → I in MPS2; mild to severe forms; greatly reduced activity; poor transport to lysosomes. 3 Publications1
Natural variantiVAR_026927118Missing in MPS2; severe form. 1 Publication1
Natural variantiVAR_007334120P → H in MPS2; mild form. Corresponds to variant dbSNP:rs193302911EnsemblClinVar.1
Natural variantiVAR_007335120P → R in MPS2; severe form. 1 PublicationCorresponds to variant dbSNP:rs193302911EnsemblClinVar.1
Natural variantiVAR_026928121Q → H in MPS2; severe form. 1 Publication1
Natural variantiVAR_026929121Q → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007336125E → V in MPS2; mild form. 1 Publication1
Natural variantiVAR_007337132S → W in MPS2; severe form. 2 Publications1
Natural variantiVAR_007338134G → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007339135K → N in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007340135K → R in MPS2; intermediate form. 1 PublicationCorresponds to variant dbSNP:rs104894861EnsemblClinVar.1
Natural variantiVAR_026930138H → D in MPS2; mild/intermediate form. 1 Publication1
Natural variantiVAR_026931140G → V in MPS2; no significant enzyme activity. 1 Publication1
Natural variantiVAR_007341143S → F in MPS2. 2 Publications1
Natural variantiVAR_026932148D → H in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007342159H → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_007343159Missing in MPS2; intermediate form. 1
Natural variantiVAR_007344160P → R in MPS2. Corresponds to variant dbSNP:rs104894856EnsemblClinVar.1
Natural variantiVAR_026933181N → I in MPS2; mild form. 1 Publication1
Natural variantiVAR_026934182L → P in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007345184C → F in MPS2; mild/intermediate form. 1 Publication1
Natural variantiVAR_007346184C → W in MPS2. 1 Publication1
Natural variantiVAR_007347196L → S in MPS2; mild/intermediate form. 2 PublicationsCorresponds to variant dbSNP:rs398123250EnsemblClinVar.1
Natural variantiVAR_007348198D → G in MPS2; mild form. 1 Publication1
Natural variantiVAR_026935205A → P in MPS2; intermediate form. 1 PublicationCorresponds to variant dbSNP:rs864622779EnsemblClinVar.1
Natural variantiVAR_007349221L → P in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007350224G → E in MPS2; severe form. 1 Publication1
Natural variantiVAR_007351225Y → D in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_026936227K → M in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_007352227K → Q in MPS2; severe form. 1
Natural variantiVAR_007353228P → L in MPS2. 1 Publication1
Natural variantiVAR_026937228P → T in MPS2; severe form. 1 Publication1
Natural variantiVAR_026938229H → R in MPS2; intermediate/severe form. 2 PublicationsCorresponds to variant dbSNP:rs193302905Ensembl.1
Natural variantiVAR_007354229H → Y in MPS2; severe form. 1 Publication1
Natural variantiVAR_026939231P → L in MPS2; mild form. 1 Publication1
Natural variantiVAR_007355252D → N in MPS2. 1 PublicationCorresponds to variant dbSNP:rs146458524EnsemblClinVar.1
Natural variantiVAR_026940259L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_009001264Y → N in MPS2. 1 Publication1
Natural variantiVAR_026941265N → I in MPS2; intermediate form; deleterious mutation; residual activity of 7.5% of the wild-type. 1 Publication1
Natural variantiVAR_007356266P → H in MPS2; mild form. 1 Publication1
Natural variantiVAR_007357266P → R in MPS2. 1 Publication1
Natural variantiVAR_007358269D → V in MPS2. 1 PublicationCorresponds to variant dbSNP:rs1085308006EnsemblClinVar.1
Natural variantiVAR_007359293Q → H in MPS2; mild form. 1 Publication1
Natural variantiVAR_026942299S → I in MPS2; mild form. 1 Publication1
Natural variantiVAR_026943308D → E in MPS2; mild form. 1 Publication1
Natural variantiVAR_026944308D → N in MPS2; intermediate form. 1 Publication1
Natural variantiVAR_026945309T → A in MPS2; severe form. 1 PublicationCorresponds to variant dbSNP:rs145807417EnsemblClinVar.1
Natural variantiVAR_026946313R → C in MPS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201048643EnsemblClinVar.1
Natural variantiVAR_026947314L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_007360333S → L in MPS2; severe form. 7 Publications