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Protein

Iduronate 2-sulfatase

Gene

IDS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the lysosomal degradation of heparan sulfate and dermatan sulfate.

Catalytic activityi

Hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.

Cofactori

Ca2+By similarityNote: Binds 1 Ca2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi45CalciumBy similarity1
Metal bindingi46CalciumBy similarity1
Metal bindingi84Calcium; via 3-oxoalanineBy similarity1
Metal bindingi334CalciumBy similarity1
Metal bindingi335CalciumBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00286-MONOMER.
ZFISH:HS00286-MONOMER.
BRENDAi3.1.6.13. 2681.
ReactomeiR-HSA-2024096. HS-GAG degradation.
R-HSA-2024101. CS/DS degradation.
SABIO-RKP22304.

Names & Taxonomyi

Protein namesi
Recommended name:
Iduronate 2-sulfatase (EC:3.1.6.13)
Alternative name(s):
Alpha-L-iduronate sulfate sulfatase
Short name:
Idursulfase
Cleaved into the following 2 chains:
Gene namesi
Name:IDS
Synonyms:SIDS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:5389. IDS.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 2 (MPS2)33 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.
See also OMIM:309900
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 rs193302909dbSNPEnsembl.1
Natural variantiVAR_00731768A → E in MPS2; severe. 1 Publication1
Natural variantiVAR_02691671S → N in MPS2; mild form. 1 PublicationCorresponds to variant rs113993954dbSNPEnsembl.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 rs113993949dbSNPEnsembl.1
Natural variantiVAR_00732086P → L in MPS2; intermediate to severe forms. 4 Publications1
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 rs398123249dbSNPEnsembl.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 rs193302911dbSNPEnsembl.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 rs28937311dbSNPEnsembl.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 rs104894856dbSNPEnsembl.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 rs398123250dbSNPEnsembl.1
Natural variantiVAR_007348198D → G in MPS2; mild form. 1 Publication1
Natural variantiVAR_026935205A → P in MPS2; intermediate form. 1 Publication1
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 rs193302905dbSNPEnsembl.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 rs146458524dbSNPEnsembl.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 Publication1
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 rs145807417dbSNPEnsembl.1
Natural variantiVAR_026946313R → C in MPS2; unknown pathological significance. 1 PublicationCorresponds to variant rs201048643dbSNPEnsembl.1
Natural variantiVAR_026947314L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_007360333S → L in MPS2; severe form. 7 PublicationsCorresponds to variant rs104894853dbSNPEnsembl.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 rs28937310dbSNPEnsembl.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 rs113993946dbSNPEnsembl.1
Natural variantiVAR_007377468R → Q in MPS2; severe/intermediate form; greatly reduced activity; poor transport to lysosomes. 12 PublicationsCorresponds to variant rs113993946dbSNPEnsembl.1
Natural variantiVAR_007378468R → W in MPS2; mild to severe forms. 9 PublicationsCorresponds to variant rs199422231dbSNPEnsembl.1
Natural variantiVAR_007379469P → H in MPS2; mild form. 1 Publication1
Natural variantiVAR_007380478D → G in MPS2; mild form. 1 Publication1
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 rs199422228dbSNPEnsembl.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

DisGeNETi3423.
MalaCardsiIDS.
MIMi309900. phenotype.
OpenTargetsiENSG00000010404.
Orphaneti217093. Mucopolysaccharidosis type 2, attenuated form.
217085. Mucopolysaccharidosis type 2, severe form.
PharmGKBiPA29636.

Protein family/group databases

Allergomei9623. Hom s Idursulfase.

Polymorphism and mutation databases

BioMutaiIDS.
DMDMi124174.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
PropeptideiPRO_000003342826 – 331 Publication8
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
Modified residuei843-oxoalanine (Cys)By similarity1
Glycosylationi115N-linked (GlcNAc...)1 Publication1
Glycosylationi144N-linked (GlcNAc...)Sequence analysis1
Glycosylationi246N-linked (GlcNAc...)Sequence analysis1
Glycosylationi280N-linked (GlcNAc...)Sequence analysis1
Glycosylationi325N-linked (GlcNAc...)Sequence analysis1
Glycosylationi513N-linked (GlcNAc...)Sequence analysis1
Glycosylationi537N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

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

Glycoprotein, Zymogen

Proteomic databases

EPDiP22304.
MaxQBiP22304.
PaxDbiP22304.
PeptideAtlasiP22304.
PRIDEiP22304.
TopDownProteomicsiP22304-3. [P22304-3]

PTM databases

iPTMnetiP22304.
PhosphoSitePlusiP22304.

Miscellaneous databases

PMAP-CutDBP22304.

Expressioni

Tissue specificityi

Liver, kidney, lung, and placenta.

Gene expression databases

BgeeiENSG00000010404.
CleanExiHS_IDS.
ExpressionAtlasiP22304. baseline and differential.
GenevisibleiP22304. HS.

Interactioni

Subunit structurei

Liver iduronate 2-sulfatase is composed of two major forms (A and B) which contain both a 42 kDa and a 14 kDa polypeptides.

Protein-protein interaction databases

BioGridi109649. 42 interactors.
IntActiP22304. 2 interactors.
MINTiMINT-4722325.
STRINGi9606.ENSP00000339801.

Structurei

3D structure databases

ProteinModelPortaliP22304.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00730000110906.
HOGENOMiHOG000014304.
HOVERGENiHBG006120.
InParanoidiP22304.
KOiK01136.
OMAiDHNMYND.
OrthoDBiEOG091G0B5B.
PhylomeDBiP22304.
TreeFamiTF323156.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 2 hits.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
Show »
Length:312
Mass (Da):34,893
Checksum:i8084F40A273B575F
GO

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 rs193302909dbSNPEnsembl.1
Natural variantiVAR_00731768A → E in MPS2; severe. 1 Publication1
Natural variantiVAR_02691671S → N in MPS2; mild form. 1 PublicationCorresponds to variant rs113993954dbSNPEnsembl.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 rs113993949dbSNPEnsembl.1
Natural variantiVAR_00732086P → L in MPS2; intermediate to severe forms. 4 Publications1
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 rs398123249dbSNPEnsembl.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 rs193302911dbSNPEnsembl.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 rs28937311dbSNPEnsembl.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 rs104894856dbSNPEnsembl.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 rs398123250dbSNPEnsembl.1
Natural variantiVAR_007348198D → G in MPS2; mild form. 1 Publication1
Natural variantiVAR_026935205A → P in MPS2; intermediate form. 1 Publication1
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 rs193302905dbSNPEnsembl.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 rs146458524dbSNPEnsembl.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 Publication1
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 rs145807417dbSNPEnsembl.1
Natural variantiVAR_026946313R → C in MPS2; unknown pathological significance. 1 PublicationCorresponds to variant rs201048643dbSNPEnsembl.1
Natural variantiVAR_026947314L → P in MPS2; severe form. 1 Publication1
Natural variantiVAR_007360333S → L in MPS2; severe form. 7 PublicationsCorresponds to variant rs104894853dbSNPEnsembl.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 rs28937310dbSNPEnsembl.1
Natural variantiVAR_026955422C → R in MPS2; severe form. 1 Publication1
Natural variantiVAR_007373432C → Y in MPS2; severe form. 1 Publication