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P22304

- IDS_HUMAN

UniProt

P22304 - IDS_HUMAN

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Protein

Iduronate 2-sulfatase

Gene

IDS

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 calcium ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi45 – 451CalciumBy similarity
Metal bindingi46 – 461CalciumBy similarity
Metal bindingi84 – 841Calcium; via 3-oxoalanineBy similarity
Metal bindingi334 – 3341CalciumBy similarity
Metal bindingi335 – 3351CalciumBy similarity

GO - Molecular functioni

  1. iduronate-2-sulfatase activity Source: Reactome
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. chondroitin sulfate catabolic process Source: Reactome
  3. chondroitin sulfate metabolic process Source: Reactome
  4. glycosaminoglycan catabolic process Source: Reactome
  5. glycosaminoglycan metabolic process Source: Reactome
  6. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00286-MONOMER.
ReactomeiREACT_120752. HS-GAG degradation.
REACT_120888. 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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:5389. IDS.

Subcellular locationi

GO - Cellular componenti

  1. lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 2 (MPS2) [MIM:309900]: An 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.33 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411L → P in MPS2; mild form; increase in enzyme activity observed in transfected cells. 1 Publication
VAR_026915
Natural varianti41 – 411Missing in MPS2; intermediate form. 1 Publication
VAR_026914
Natural varianti45 – 451D → N in MPS2. 1 Publication
VAR_007313
Natural varianti48 – 481R → P in MPS2; mild form. 2 Publications
VAR_007314
Natural varianti54 – 541Y → D in MPS2; severe form. 1 Publication
VAR_007315
Natural varianti63 – 631N → D in MPS2; mild/intermediate form. 4 Publications
VAR_007316
Natural varianti68 – 681A → E in MPS2; severe. 1 Publication
VAR_007317
Natural varianti71 – 711S → N in MPS2; mild form. 1 Publication
VAR_026916
Natural varianti71 – 711S → R in MPS2; severe form. 1 Publication
VAR_008998
Natural varianti73 – 731L → F in MPS2; severe form. 1 Publication
VAR_026917
Natural varianti79 – 791A → E in MPS2; mild form. 1 Publication
VAR_007318
Natural varianti82 – 821A → E in MPS2. 1 Publication
VAR_008999
Natural varianti82 – 821A → V in MPS2; no significant enzyme activity. 1 Publication
VAR_026918
Natural varianti85 – 851A → S in MPS2; severe form. 1 Publication
VAR_026919
Natural varianti85 – 851A → T in MPS2; mild to severe forms. 5 Publications
VAR_007319
Natural varianti86 – 861P → L in MPS2; intermediate to severe forms. 4 Publications
VAR_007320
Natural varianti86 – 861P → Q in MPS2. 1 Publication
VAR_007321
Natural varianti86 – 861P → R in MPS2; severe form. 2 Publications
VAR_007322
Natural varianti87 – 871S → N in MPS2; mild form. 1 Publication
VAR_007323
Natural varianti88 – 881R → C in MPS2; severe form. 4 Publications
VAR_007324
Natural varianti88 – 881R → G in MPS2; severe form. 1 Publication
VAR_026920
Natural varianti88 – 881R → H in MPS2; intermediate/severe form; higher affinity for the artificial substrate; poor transport to lysosomes. 5 Publications
VAR_007325
Natural varianti88 – 881R → L in MPS2; severe form. 1 Publication
VAR_007326
Natural varianti88 – 881R → P in MPS2; severe form; total absence of residual activity; poor transport to lysosomes. 1 Publication
VAR_007327
Natural varianti89 – 891V → F in MPS2. 1 Publication
VAR_026921
Natural varianti92 – 921L → P in MPS2; severe form. 1 Publication
VAR_007328
Natural varianti94 – 941G → D in MPS2; mild form. 1 Publication
VAR_007329
Natural varianti95 – 951R → G in MPS2; intermediate form. 1 Publication
VAR_026922
Natural varianti95 – 951R → T in MPS2; mild form. 1 Publication
VAR_026923
Natural varianti95 – 951Missing in MPS2; severe form. 1 Publication
VAR_009000
Natural varianti102 – 1021L → R in MPS2; mild form. 1 Publication
VAR_007330
Natural varianti108 – 1081Y → C in MPS2; mild form. 1 Publication
VAR_007331
Natural varianti108 – 1081Y → S in MPS2; mild form. 1 Publication
VAR_026924
Natural varianti115 – 1151N → Y in MPS2. 1 Publication
VAR_007332
Natural varianti117 – 1171S → Y in MPS2; severe form. 1 Publication
VAR_026926
Natural varianti117 – 1171Missing in MPS2; severe form; deleterious mutation; results in an inactive enzyme. 4 Publications
VAR_026925
Natural varianti118 – 1181T → I in MPS2; mild to severe forms; greatly reduced activity; poor transport to lysosomes. 2 Publications
VAR_007333
Natural varianti118 – 1181Missing in MPS2; severe form. 1 Publication
VAR_026927
Natural varianti120 – 1201P → H in MPS2; mild form.
VAR_007334
Natural varianti120 – 1201P → R in MPS2; severe form. 1 Publication
VAR_007335
Natural varianti121 – 1211Q → H in MPS2; severe form. 1 Publication
VAR_026928
Natural varianti121 – 1211Q → R in MPS2; severe form. 1 Publication
VAR_026929
Natural varianti125 – 1251E → V in MPS2; mild form. 1 Publication
VAR_007336
Natural varianti132 – 1321S → W in MPS2; severe form. 2 Publications
VAR_007337
Natural varianti134 – 1341G → R in MPS2; severe form. 1 Publication
VAR_007338
Natural varianti135 – 1351K → N in MPS2; intermediate form. 1 Publication
VAR_007339
Natural varianti135 – 1351K → R in MPS2; intermediate form. 1 Publication
Corresponds to variant rs28937311 [ dbSNP | Ensembl ].
VAR_007340
Natural varianti138 – 1381H → D in MPS2; mild/intermediate form. 1 Publication
VAR_026930
Natural varianti140 – 1401G → V in MPS2; no significant enzyme activity. 1 Publication
VAR_026931
Natural varianti143 – 1431S → F in MPS2. 2 Publications
VAR_007341
Natural varianti148 – 1481D → H in MPS2; intermediate form. 1 Publication
VAR_026932
Natural varianti159 – 1591H → P in MPS2; severe form. 1 Publication
VAR_007342
Natural varianti159 – 1591Missing in MPS2; intermediate form.
VAR_007343
Natural varianti160 – 1601P → R in MPS2.
VAR_007344
Natural varianti181 – 1811N → I in MPS2; mild form. 1 Publication
VAR_026933
Natural varianti182 – 1821L → P in MPS2; intermediate form. 1 Publication
VAR_026934
Natural varianti184 – 1841C → F in MPS2; mild/intermediate form. 1 Publication
VAR_007345
Natural varianti184 – 1841C → W in MPS2. 1 Publication
VAR_007346
Natural varianti196 – 1961L → S in MPS2; mild/intermediate form. 2 Publications
VAR_007347
Natural varianti198 – 1981D → G in MPS2; mild form. 1 Publication
VAR_007348
Natural varianti205 – 2051A → P in MPS2; intermediate form. 1 Publication
VAR_026935
Natural varianti221 – 2211L → P in MPS2; intermediate form. 1 Publication
VAR_007349
Natural varianti224 – 2241G → E in MPS2; severe form. 1 Publication
VAR_007350
Natural varianti225 – 2251Y → D in MPS2; intermediate form. 1 Publication
VAR_007351
Natural varianti227 – 2271K → M in MPS2; intermediate form. 1 Publication
VAR_026936
Natural varianti227 – 2271K → Q in MPS2; severe form.
VAR_007352
Natural varianti228 – 2281P → L in MPS2. 1 Publication
VAR_007353
Natural varianti228 – 2281P → T in MPS2; severe form. 1 Publication
VAR_026937
Natural varianti229 – 2291H → R in MPS2; intermediate/severe form. 2 Publications
VAR_026938
Natural varianti229 – 2291H → Y in MPS2; severe form. 1 Publication
VAR_007354
Natural varianti231 – 2311P → L in MPS2; mild form. 1 Publication
VAR_026939
Natural varianti252 – 2521D → N in MPS2. 1 Publication
Corresponds to variant rs146458524 [ dbSNP | Ensembl ].
VAR_007355
Natural varianti259 – 2591L → P in MPS2; severe form. 1 Publication
VAR_026940
Natural varianti264 – 2641Y → N in MPS2. 1 Publication
VAR_009001
Natural varianti265 – 2651N → I in MPS2; intermediate form; deleterious mutation; residual activity of 7.5% of the wild-type. 1 Publication
VAR_026941
Natural varianti266 – 2661P → H in MPS2; mild form. 1 Publication
VAR_007356
Natural varianti266 – 2661P → R in MPS2. 1 Publication
VAR_007357
Natural varianti269 – 2691D → V in MPS2. 1 Publication
VAR_007358
Natural varianti293 – 2931Q → H in MPS2; mild form. 1 Publication
VAR_007359
Natural varianti299 – 2991S → I in MPS2; mild form. 1 Publication
VAR_026942
Natural varianti308 – 3081D → E in MPS2; mild form. 1 Publication
VAR_026943
Natural varianti308 – 3081D → N in MPS2; intermediate form. 1 Publication
VAR_026944
Natural varianti309 – 3091T → A in MPS2; severe form. 1 Publication
Corresponds to variant rs145807417 [ dbSNP | Ensembl ].
VAR_026945
Natural varianti313 – 3131R → C in MPS2; unknown pathological significance. 1 Publication
Corresponds to variant rs201048643 [ dbSNP | Ensembl ].
VAR_026946
Natural varianti314 – 3141L → P in MPS2; severe form. 1 Publication
VAR_026947
Natural varianti333 – 3331S → L in MPS2; severe form. 7 Publications
VAR_007360
Natural varianti334 – 3341D → G in MPS2; severe form. 1 Publication
VAR_009002
Natural varianti334 – 3341D → N in MPS2; mild form. 1 Publication
VAR_026948
Natural varianti335 – 3351H → R in MPS2; intermediate form. 1 Publication
VAR_026949
Natural varianti336 – 3361G → E in MPS2; severe from. 1 Publication
VAR_026950
Natural varianti336 – 3361G → R in MPS2; severe form. 1 Publication
VAR_026951
Natural varianti337 – 3371W → R in MPS2; intermediate form. 2 Publications
VAR_007361
Natural varianti339 – 3391L → R in MPS2; severe form. 1 Publication
VAR_026952
Natural varianti340 – 3401G → D in MPS2; mild form. 1 Publication
VAR_007362
Natural varianti341 – 3411E → K in MPS2; severe form. 2 Publications
VAR_008134
Natural varianti342 – 3421H → Y in MPS2; mild form. 1 Publication
VAR_008135
Natural varianti345 – 3451W → C in MPS2; mild form. 1 Publication
VAR_007363
Natural varianti346 – 3461A → D in MPS2; mild/severe form. 1 Publication
VAR_007364
Natural varianti346 – 3461A → V in MPS2; mild/severe form. 1 Publication
VAR_007365
Natural varianti347 – 3471K → I in MPS2. 1 Publication
VAR_007366
Natural varianti347 – 3471K → Q in MPS2; severe form. 1 Publication
VAR_026953
Natural varianti347 – 3471K → T in MPS2; severe form; deleterious mutation confirmed. 2 Publications
VAR_007367
Natural varianti348 – 3481Y → H in MPS2. 1 Publication
VAR_007368
Natural varianti349 – 3491S → I in MPS2; severe form. 2 Publications
VAR_007369
Natural varianti358 – 3581P → R in MPS2; severe form. 1 Publication
VAR_007370
Natural varianti403 – 4031L → R in MPS2; intermediate form. 2 Publications
VAR_007371
Natural varianti410 – 4101L → P in MPS2. 1 Publication
VAR_026954
Natural varianti422 – 4221C → G in MPS2; mild form. 2 Publications
Corresponds to variant rs28937310 [ dbSNP | Ensembl ].
VAR_007372
Natural varianti422 – 4221C → R in MPS2; severe form. 1 Publication
VAR_026955
Natural varianti432 – 4321C → Y in MPS2; severe form. 1 Publication
VAR_007373
Natural varianti434 – 4341E → K in MPS2. 1 Publication
VAR_007374
Natural varianti465 – 4651Q → P in MPS2; severe form. 1 Publication
VAR_009003
Natural varianti467 – 4671P → L in MPS2; severe form. 2 Publications
VAR_026956
Natural varianti468 – 4681R → G in MPS2; mild to severe forms.
VAR_007375
Natural varianti468 – 4681R → L in MPS2; mild to severe forms. 3 Publications
VAR_007376
Natural varianti468 – 4681R → Q in MPS2; severe/intermediate form; greatly reduced activity; poor transport to lysosomes. 11 Publications
VAR_007377
Natural varianti468 – 4681R → W in MPS2; mild to severe forms. 9 Publications
VAR_007378
Natural varianti469 – 4691P → H in MPS2; mild form. 1 Publication
VAR_007379
Natural varianti478 – 4781D → G in MPS2; mild form. 1 Publication
VAR_007380
Natural varianti478 – 4781D → Y in MPS2; severe form. 1 Publication
VAR_007381
Natural varianti480 – 4801P → L in MPS2; mild form. 1 Publication
VAR_026957
Natural varianti480 – 4801P → Q in MPS2; mild form. 1 Publication
VAR_026958
Natural varianti480 – 4801P → R in MPS2; severe form. 1 Publication
VAR_026959
Natural varianti485 – 4851I → K in MPS2. 1 Publication
VAR_007382
Natural varianti485 – 4851I → R in MPS2; severe form. 2 Publications
VAR_007383
Natural varianti488 – 4892MG → IA in MPS2; intermediate form; mutation A-489 confirmed as causative of MPS2.
VAR_026960
Natural varianti490 – 4901Y → S in MPS2; intermediate form. 1 Publication
VAR_026961
Natural varianti491 – 4911S → F in MPS2; mild form. 1 Publication
VAR_008136
Natural varianti502 – 5021W → C in MPS2; severe form. 1 Publication
VAR_007384
Natural varianti502 – 5021W → S in MPS2.
VAR_007385
Natural varianti521 – 5211E → K in MPS2; severe form. 1 Publication
VAR_026962
Natural varianti521 – 5211E → V in MPS2; severe form. 3 Publications
VAR_007386
Natural varianti523 – 5231Y → C in MPS2; mild form. 1 Publication
VAR_007387

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

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

Protein family/group databases

Allergomei9623. Hom s Idursulfase.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence AnalysisAdd
BLAST
Propeptidei26 – 3381 PublicationPRO_0000033428
Chaini34 – 455422Iduronate 2-sulfatase 42 kDa chainPRO_0000033429Add
BLAST
Chaini456 – 55095Iduronate 2-sulfatase 14 kDa chainPRO_0000033430Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei84 – 8413-oxoalanine (Cys)By similarity
Glycosylationi115 – 1151N-linked (GlcNAc...)1 Publication
Glycosylationi144 – 1441N-linked (GlcNAc...)Sequence Analysis
Glycosylationi246 – 2461N-linked (GlcNAc...)Sequence Analysis
Glycosylationi280 – 2801N-linked (GlcNAc...)Sequence Analysis
Glycosylationi325 – 3251N-linked (GlcNAc...)Sequence Analysis
Glycosylationi513 – 5131N-linked (GlcNAc...)Sequence Analysis
Glycosylationi537 – 5371N-linked (GlcNAc...)Sequence Analysis

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

MaxQBiP22304.
PaxDbiP22304.
PRIDEiP22304.

PTM databases

PhosphoSiteiP22304.

Miscellaneous databases

PMAP-CutDBP22304.

Expressioni

Tissue specificityi

Liver, kidney, lung, and placenta.

Gene expression databases

BgeeiP22304.
CleanExiHS_IDS.
ExpressionAtlasiP22304. baseline and differential.
GenevestigatoriP22304.

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. 41 interactions.
IntActiP22304. 2 interactions.
MINTiMINT-4722325.
STRINGi9606.ENSP00000339801.

Structurei

3D structure databases

ProteinModelPortaliP22304.
SMRiP22304. Positions 29-450.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3119.
GeneTreeiENSGT00730000110906.
HOGENOMiHOG000014304.
HOVERGENiHBG006120.
InParanoidiP22304.
KOiK01136.
OMAiDHNMYND.
PhylomeDBiP22304.
TreeFamiTF323156.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411L → P in MPS2; mild form; increase in enzyme activity observed in transfected cells. 1 Publication
VAR_026915
Natural varianti41 – 411Missing in MPS2; intermediate form. 1 Publication
VAR_026914
Natural varianti45 – 451D → N in MPS2. 1 Publication
VAR_007313
Natural varianti48 – 481R → P in MPS2; mild form. 2 Publications
VAR_007314
Natural varianti54 – 541Y → D in MPS2; severe form. 1 Publication
VAR_007315
Natural varianti63 – 631N → D in MPS2; mild/intermediate form. 4 Publications
VAR_007316
Natural varianti68 – 681A → E in MPS2; severe. 1 Publication
VAR_007317
Natural varianti71 – 711S → N in MPS2; mild form. 1 Publication
VAR_026916
Natural varianti71 – 711S → R in MPS2; severe form. 1 Publication
VAR_008998
Natural varianti73 – 731L → F in MPS2; severe form. 1 Publication
VAR_026917
Natural varianti79 – 791A → E in MPS2; mild form. 1 Publication
VAR_007318
Natural varianti82 – 821A → E in MPS2. 1 Publication
VAR_008999
Natural varianti82 – 821A → V in MPS2; no significant enzyme activity. 1 Publication
VAR_026918
Natural varianti85 – 851A → S in MPS2; severe form. 1 Publication
VAR_026919
Natural varianti85 – 851A → T in MPS2; mild to severe forms. 5 Publications
VAR_007319
Natural varianti86 – 861P → L in MPS2; intermediate to severe forms. 4 Publications
VAR_007320
Natural varianti86 – 861P → Q in MPS2. 1 Publication
VAR_007321
Natural varianti86 – 861P → R in MPS2; severe form. 2 Publications
VAR_007322
Natural varianti87 – 871S → N in MPS2; mild form. 1 Publication
VAR_007323
Natural varianti88 – 881R → C in MPS2; severe form. 4 Publications
VAR_007324
Natural varianti88 – 881R → G in MPS2; severe form. 1 Publication
VAR_026920
Natural varianti88 – 881R → H in MPS2; intermediate/severe form; higher affinity for the artificial substrate; poor transport to lysosomes. 5 Publications
VAR_007325
Natural varianti88 – 881R → L in MPS2; severe form. 1 Publication
VAR_007326
Natural varianti88 – 881R → P in MPS2; severe form; total absence of residual activity; poor transport to lysosomes. 1 Publication
VAR_007327
Natural varianti89 – 891V → F in MPS2. 1 Publication
VAR_026921
Natural varianti92 – 921L → P in MPS2; severe form. 1 Publication
VAR_007328
Natural varianti94 – 941G → D in MPS2; mild form. 1 Publication
VAR_007329
Natural varianti95 – 951R → G in MPS2; intermediate form. 1 Publication
VAR_026922
Natural varianti95 – 951R → T in MPS2; mild form. 1 Publication
VAR_026923
Natural varianti95 – 951Missing in MPS2; severe form. 1 Publication
VAR_009000
Natural varianti102 – 1021L → R in MPS2; mild form. 1 Publication
VAR_007330
Natural varianti108 – 1081Y → C in MPS2; mild form. 1 Publication
VAR_007331
Natural varianti108 – 1081Y → S in MPS2; mild form. 1 Publication
VAR_026924
Natural varianti115 – 1151N → Y in MPS2. 1 Publication
VAR_007332
Natural varianti117 – 1171S → Y in MPS2; severe form. 1 Publication
VAR_026926
Natural varianti117 – 1171Missing in MPS2; severe form; deleterious mutation; results in an inactive enzyme. 4 Publications
VAR_026925
Natural varianti118 – 1181T → I in MPS2; mild to severe forms; greatly reduced activity; poor transport to lysosomes. 2 Publications
VAR_007333
Natural varianti118 – 1181Missing in MPS2; severe form. 1 Publication
VAR_026927
Natural varianti120 – 1201P → H in MPS2; mild form.
VAR_007334
Natural varianti120 – 1201P → R in MPS2; severe form. 1 Publication
VAR_007335
Natural varianti121 – 1211Q → H in MPS2; severe form. 1 Publication
VAR_026928
Natural varianti121 – 1211Q → R in MPS2; severe form. 1 Publication
VAR_026929
Natural varianti125 – 1251E → V in MPS2; mild form. 1 Publication
VAR_007336
Natural varianti132 – 1321S → W in MPS2; severe form. 2 Publications
VAR_007337
Natural varianti134 – 1341G → R in MPS2; severe form. 1 Publication
VAR_007338
Natural varianti135 – 1351K → N in MPS2; intermediate form. 1 Publication
VAR_007339
Natural varianti135 – 1351K → R in MPS2; intermediate form. 1 Publication
Corresponds to variant rs28937311 [ dbSNP | Ensembl ].
VAR_007340
Natural varianti138 – 1381H → D in MPS2; mild/intermediate form. 1 Publication
VAR_026930
Natural varianti140 – 1401G → V in MPS2; no significant enzyme activity. 1 Publication
VAR_026931
Natural varianti143 – 1431S → F in MPS2. 2 Publications
VAR_007341
Natural varianti148 – 1481D → H in MPS2; intermediate form. 1 Publication
VAR_026932
Natural varianti159 – 1591H → P in MPS2; severe form. 1 Publication
VAR_007342
Natural varianti159 – 1591Missing in MPS2; intermediate form.
VAR_007343
Natural varianti160 – 1601P → R in MPS2.
VAR_007344
Natural varianti181 – 1811N → I in MPS2; mild form. 1 Publication
VAR_026933
Natural varianti182 – 1821L → P in MPS2; intermediate form. 1 Publication
VAR_026934
Natural varianti184 – 1841C → F in MPS2; mild/intermediate form. 1 Publication
VAR_007345
Natural varianti184 – 1841C → W in MPS2. 1 Publication
VAR_007346
Natural varianti196 – 1961L → S in MPS2; mild/intermediate form. 2 Publications
VAR_007347
Natural varianti198 – 1981D → G in MPS2; mild form. 1 Publication
VAR_007348
Natural varianti205 – 2051A → P in MPS2; intermediate form. 1 Publication
VAR_026935
Natural varianti221 – 2211L → P in MPS2; intermediate form. 1 Publication
VAR_007349
Natural varianti224 – 2241G → E in MPS2; severe form. 1 Publication
VAR_007350
Natural varianti225 – 2251Y → D in MPS2; intermediate form. 1 Publication
VAR_007351
Natural varianti227 – 2271K → M in MPS2; intermediate form. 1 Publication
VAR_026936
Natural varianti227 – 2271K → Q in MPS2; severe form.
VAR_007352
Natural varianti228 – 2281P → L in MPS2. 1 Publication
VAR_007353
Natural varianti228 – 2281P → T in MPS2; severe form. 1 Publication
VAR_026937
Natural varianti229 – 2291H → R in MPS2; intermediate/severe form. 2 Publications
VAR_026938
Natural varianti229 – 2291H → Y in MPS2; severe form. 1 Publication
VAR_007354
Natural varianti231 – 2311P → L in MPS2; mild form. 1 Publication
VAR_026939
Natural varianti252 – 2521D → N in MPS2. 1 Publication
Corresponds to variant rs146458524 [ dbSNP | Ensembl ].
VAR_007355
Natural varianti259 – 2591L → P in MPS2; severe form. 1 Publication
VAR_026940
Natural varianti264 – 2641Y → N in MPS2. 1 Publication
VAR_009001
Natural varianti265 – 2651N → I in MPS2; intermediate form; deleterious mutation; residual activity of 7.5% of the wild-type. 1 Publication
VAR_026941
Natural varianti266 – 2661P → H in MPS2; mild form. 1 Publication
VAR_007356
Natural varianti266 – 2661P → R in MPS2. 1 Publication
VAR_007357
Natural varianti269 – 2691D → V in MPS2. 1 Publication
VAR_007358
Natural varianti293 – 2931Q → H in MPS2; mild form. 1 Publication
VAR_007359
Natural varianti299 – 2991S → I in MPS2; mild form. 1 Publication
VAR_026942
Natural varianti308 – 3081D → E in MPS2; mild form. 1 Publication
VAR_026943
Natural varianti308 – 3081D → N in MPS2; intermediate form. 1 Publication
VAR_026944
Natural varianti309 – 3091T → A in MPS2; severe form. 1 Publication
Corresponds to variant rs145807417 [ dbSNP | Ensembl ].
VAR_026945
Natural varianti313 – 3131R → C in MPS2; unknown pathological significance. 1 Publication
Corresponds to variant rs201048643 [ dbSNP | Ensembl ].
VAR_026946
Natural varianti314 – 3141L → P in MPS2; severe form. 1 Publication
VAR_026947
Natural varianti333 – 3331S → L in MPS2; severe form. 7 Publications
VAR_007360
Natural varianti334 – 3341D → G in MPS2; severe form. 1 Publication
VAR_009002
Natural varianti334 – 3341D → N in MPS2; mild form. 1 Publication
VAR_026948
Natural varianti335 – 3351H → R in MPS2; intermediate form. 1 Publication
VAR_026949
Natural varianti336 – 3361G → E in MPS2; severe from. 1 Publication
VAR_026950
Natural varianti336 – 3361G → R in MPS2; severe form. 1 Publication
VAR_026951
Natural varianti337 – 3371W → R in MPS2; intermediate form. 2 Publications
VAR_007361
Natural varianti339 – 3391L → R in MPS2; severe form. 1 Publication
VAR_026952
Natural varianti340 – 3401G → D in MPS2; mild form. 1 Publication
VAR_007362
Natural varianti341 – 3411E → K in MPS2; severe form. 2 Publications
VAR_008134
Natural varianti342 – 3421H → Y in MPS2; mild form. 1 Publication
VAR_008135
Natural varianti345 – 3451W → C in MPS2; mild form. 1 Publication
VAR_007363
Natural varianti346 – 3461A → D in MPS2; mild/severe form. 1 Publication
VAR_007364
Natural varianti346 – 3461A → V in MPS2; mild/severe form. 1 Publication
VAR_007365
Natural varianti347 – 3471K → I in MPS2. 1 Publication
VAR_007366
Natural varianti347 – 3471K → Q in MPS2; severe form. 1 Publication
VAR_026953
Natural varianti347 – 3471K → T in MPS2; severe form; deleterious mutation confirmed. 2 Publications
VAR_007367
Natural varianti348 – 3481Y → H in MPS2. 1 Publication
VAR_007368
Natural varianti349 – 3491S → I in MPS2; severe form. 2 Publications
VAR_007369
Natural varianti358 – 3581P → R in MPS2; severe form. 1 Publication
VAR_007370
Natural varianti403 – 4031L → R in MPS2; intermediate form. 2 Publications
VAR_007371
Natural varianti410 – 4101L → P in MPS2. 1 Publication