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Entry version 205 (22 Apr 2020)
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

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS00286-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    3.1.6.13 2681

    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

    <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

    More...
    HGNCi
    HGNC:5389 IDS

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    300823 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P22304

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    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 mutations 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 Publications1
    Natural variantiVAR_00731554Y → D in MPS2; severe form. 1 Publication1
    Natural variantiVAR_00731663N → D in MPS2; mild/intermediate form. 4 PublicationsCorresponds to variant dbSNP:rs193302909Ensembl.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 Publications1
    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 Publication1
    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:rs201048643Ensembl.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 Publication1
    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 Publications1
    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 mutation, 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

    Polymorphism and mutation 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

    More...
    EPDi
    P22304

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    P22304

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P22304

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

    More...
    PaxDbi
    P22304

    PeptideAtlas

    More...
    PeptideAtlasi
    P22304

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P22304

    ProteomicsDB: a multi-organism proteome resource

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

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    P22304-3 [P22304-3]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P22304

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

    More...
    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 236 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P22304 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P22304 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000010404 Tissue enhanced (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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    109649, 44 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P22304, 30 interactors

    Molecular INTeraction database

    More...
    MINTi
    P22304

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000339801

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    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

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

    More...
    SMRi
    P22304

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    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

    More...
    eggNOGi
    KOG3867 Eukaryota
    COG3119 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000156803

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_006332_9_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P22304

    KEGG Orthology (KO)

    More...
    KOi
    K01136

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    MPAVAWN

    Database of Orthologous Groups

    More...
    OrthoDBi
    1353742at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P22304

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF323156

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd16030 iduronate-2-sulfatase, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.40.720.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><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
    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>
    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>
    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 Publications1
    Natural variantiVAR_00731554Y → D in MPS2; severe form. 1 Publication1
    Natural variantiVAR_00731663N → D in MPS2; mild/intermediate form. 4 PublicationsCorresponds to variant dbSNP:rs193302909Ensembl.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 Publications1
    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 Publication1
    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