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P22304

- IDS_HUMAN

UniProt

P22304 - IDS_HUMAN

Protein

Iduronate 2-sulfatase

Gene

IDS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 1 (01 Aug 1991)
      Previous versions | rss
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    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

    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.

    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

    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

    ArrayExpressiP22304.
    BgeeiP22304.
    CleanExiHS_IDS.
    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. 1 interaction.
    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.
    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

    MPPPRTGRGL LWLGLVLSSV CVALGSETQA NSTTDALNVL LIIVDDLRPS    50
    LGCYGDKLVR SPNIDQLASH SLLFQNAFAQ QAVCAPSRVS FLTGRRPDTT 100
    RLYDFNSYWR VHAGNFSTIP QYFKENGYVT MSVGKVFHPG ISSNHTDDSP 150
    YSWSFPPYHP SSEKYENTKT CRGPDGELHA NLLCPVDVLD VPEGTLPDKQ 200
    STEQAIQLLE KMKTSASPFF LAVGYHKPHI PFRYPKEFQK LYPLENITLA 250
    PDPEVPDGLP PVAYNPWMDI RQREDVQALN ISVPYGPIPV DFQRKIRQSY 300
    FASVSYLDTQ VGRLLSALDD LQLANSTIIA FTSDHGWALG EHGEWAKYSN 350
    FDVATHVPLI FYVPGRTASL PEAGEKLFPY LDPFDSASQL MEPGRQSMDL 400
    VELVSLFPTL AGLAGLQVPP RCPVPSFHVE LCREGKNLLK HFRFRDLEED 450
    PYLPGNPREL IAYSQYPRPS DIPQWNSDKP SLKDIKIMGY SIRTIDYRYT 500
    VWVGFNPDEF LANFSDIHAG ELYFVDSDPL QDHNMYNDSQ GGDLFQLLMP 550
    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
    VAR_026954
    Natural varianti422 – 4221C → G in MPS2; mild form. 2 Publications