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Protein

Alpha-L-iduronidase

Gene

IDUA

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

Functioni

Catalytic activityi

Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei91Substrate1
Binding sitei181Substrate1
Active sitei182Proton donorPROSITE-ProRule annotation1 Publication1
Binding sitei264Substrate1
Active sitei299Nucleophile1 Publication1
Binding sitei349Substrate1
Binding sitei363Substrate1

GO - Molecular functioni

  • L-iduronidase activity Source: UniProtKB

GO - Biological processi

  • chondroitin sulfate catabolic process Source: Reactome
  • dermatan sulfate catabolic process Source: UniProtKB
  • disaccharide metabolic process Source: ProtInc
  • glycosaminoglycan catabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS05096-MONOMER.
ZFISH:HS05096-MONOMER.
BRENDAi3.2.1.76. 2681.
ReactomeiR-HSA-2024096. HS-GAG degradation.
R-HSA-2024101. CS/DS degradation.
SABIO-RKP35475.

Protein family/group databases

CAZyiGH39. Glycoside Hydrolase Family 39.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-L-iduronidase (EC:3.2.1.76)
Gene namesi
Name:IDUA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:5391. IDUA.

Subcellular locationi

GO - Cellular componenti

  • coated vesicle Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 1H (MPS1H)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.
See also OMIM:607014
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00334916 – 19Missing in MPS1H. 1 Publication4
Natural variantiVAR_00335151G → D in MPS1H. 2 PublicationsCorresponds to variant rs794726877dbSNPEnsembl.1
Natural variantiVAR_00335275A → T in MPS1H. 2 PublicationsCorresponds to variant rs758452450dbSNPEnsembl.1
Natural variantiVAR_02097579A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant rs747981483dbSNPEnsembl.1
Natural variantiVAR_00335382H → P in MPS1H/S. 1 PublicationCorresponds to variant rs794727239dbSNPEnsembl.1
Natural variantiVAR_06621684G → R in MPS1H/S. 1 Publication1
Natural variantiVAR_066217103T → P in MPS1H; uncertain pathological role. 1 Publication1
Natural variantiVAR_020977133M → I in MPS1H. 1 PublicationCorresponds to variant rs558683362dbSNPEnsembl.1
Natural variantiVAR_066218178E → K in MPS1H/S. 1 Publication1
Natural variantiVAR_020978182E → K in MPS1H. 1 PublicationCorresponds to variant rs754154200dbSNPEnsembl.1
Natural variantiVAR_066219188F → L in MPS1H/S; associated with R-423. 1 Publication1
Natural variantiVAR_020979208G → D in MPS1H. 1 Publication1
Natural variantiVAR_003358218L → P in MPS1H. 1 Publication1
Natural variantiVAR_020980238L → Q in MPS1H/S. 1 PublicationCorresponds to variant rs148789453dbSNPEnsembl.1
Natural variantiVAR_020981260S → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066221265G → R in MPS1H/S. 1 PublicationCorresponds to variant rs369090960dbSNPEnsembl.1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_003360315D → Y in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003361327A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant rs199801029dbSNPEnsembl.1
Natural variantiVAR_017436346L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant rs121965033dbSNPEnsembl.1
Natural variantiVAR_003363349 – 350Missing in MPS1H. 1 Publication2
Natural variantiVAR_003362349D → N in MPS1H. Corresponds to variant rs368454909dbSNPEnsembl.1
Natural variantiVAR_020982349D → Y in MPS1H. 1 Publication1
Natural variantiVAR_020984363R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant rs750496798dbSNPEnsembl.1
Natural variantiVAR_003365366T → P in MPS1H. 1 PublicationCorresponds to variant rs121965024dbSNPEnsembl.1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant rs762903007dbSNPEnsembl.1
Natural variantiVAR_066225385P → R in MPS1H. 1 Publication1
Natural variantiVAR_003368388T → R in MPS1H. 1 Publication1
Natural variantiVAR_003369396L → LALL in MPS1H. 1
Natural variantiVAR_066226396L → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003370409G → R in MPS1H. 1 PublicationCorresponds to variant rs11934801dbSNPEnsembl.1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications1
Natural variantiVAR_066227436A → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003373489R → P in MPS1H. 1 PublicationCorresponds to variant rs4690226dbSNPEnsembl.1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant rs121965027dbSNPEnsembl.1
Natural variantiVAR_003376496P → L in MPS1H/S. 1 Publication1
Natural variantiVAR_066229496P → R in MPS1H/S. 1 PublicationCorresponds to variant rs772416503dbSNPEnsembl.1
Natural variantiVAR_003377504M → T in MPS1H/S. 1 Publication1
Natural variantiVAR_003378533P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant rs121965021dbSNPEnsembl.1
Natural variantiVAR_066230535L → F in MPS1H/S. 1 Publication1
Natural variantiVAR_020986602F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication1
Natural variantiVAR_017437619R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant rs121965031dbSNPEnsembl.1
Natural variantiVAR_072368620V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003379626W → R in MPS1H/S. 1 Publication1
Natural variantiVAR_020987628R → P in MPS1H/S. 1 PublicationCorresponds to variant rs200448421dbSNPEnsembl.1
Mucopolysaccharidosis 1H/S (MPS1H/S)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility.
See also OMIM:607015
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02097579A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant rs747981483dbSNPEnsembl.1
Natural variantiVAR_00335382H → P in MPS1H/S. 1 PublicationCorresponds to variant rs794727239dbSNPEnsembl.1
Natural variantiVAR_06621684G → R in MPS1H/S. 1 Publication1
Natural variantiVAR_066218178E → K in MPS1H/S. 1 Publication1
Natural variantiVAR_066219188F → L in MPS1H/S; associated with R-423. 1 Publication1
Natural variantiVAR_020980238L → Q in MPS1H/S. 1 PublicationCorresponds to variant rs148789453dbSNPEnsembl.1
Natural variantiVAR_020981260S → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066221265G → R in MPS1H/S. 1 PublicationCorresponds to variant rs369090960dbSNPEnsembl.1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_003361327A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant rs199801029dbSNPEnsembl.1
Natural variantiVAR_017436346L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant rs121965033dbSNPEnsembl.1
Natural variantiVAR_020984363R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant rs750496798dbSNPEnsembl.1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant rs762903007dbSNPEnsembl.1
Natural variantiVAR_066226396L → P in MPS1H/S. 1 Publication1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications1
Natural variantiVAR_066227436A → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant rs121965027dbSNPEnsembl.1
Natural variantiVAR_003376496P → L in MPS1H/S. 1 Publication1
Natural variantiVAR_066229496P → R in MPS1H/S. 1 PublicationCorresponds to variant rs772416503dbSNPEnsembl.1
Natural variantiVAR_003377504M → T in MPS1H/S. 1 Publication1
Natural variantiVAR_003378533P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant rs121965021dbSNPEnsembl.1
Natural variantiVAR_066230535L → F in MPS1H/S. 1 Publication1
Natural variantiVAR_020986602F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication1
Natural variantiVAR_017437619R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant rs121965031dbSNPEnsembl.1
Natural variantiVAR_003379626W → R in MPS1H/S. 1 Publication1
Natural variantiVAR_020987628R → P in MPS1H/S. 1 PublicationCorresponds to variant rs200448421dbSNPEnsembl.1
Mucopolysaccharidosis 1S (MPS1S)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
See also OMIM:607016
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236718L → P in MPS1S. 1 PublicationCorresponds to variant rs794726878dbSNPEnsembl.1
Natural variantiVAR_06621576Y → C in MPS1S. 1 PublicationCorresponds to variant rs780165694dbSNPEnsembl.1
Natural variantiVAR_00335489R → Q in MPS1S; in Japanese 21% of alleles. 2 PublicationsCorresponds to variant rs121965029dbSNPEnsembl.1
Natural variantiVAR_00335589R → W in MPS1S. 2 PublicationsCorresponds to variant rs754966840dbSNPEnsembl.1
Natural variantiVAR_066220219G → E in MPS1S. 1 Publication1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_066223306W → L in MPS1S. 1 Publication1
Natural variantiVAR_066224348N → K in MPS1S. 1 PublicationCorresponds to variant rs746766617dbSNPEnsembl.1
Natural variantiVAR_020983350N → I in MPS1S. 1 Publication1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant rs762903007dbSNPEnsembl.1
Natural variantiVAR_003367383R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant rs754949360dbSNPEnsembl.1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications1
Natural variantiVAR_003371445Missing in MPS1S. 1 Publication1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant rs121965027dbSNPEnsembl.1
Natural variantiVAR_003375492R → P in MPS1S. 2 PublicationsCorresponds to variant rs121965026dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

DisGeNETi3425.
MalaCardsiIDUA.
MIMi607014. phenotype.
607015. phenotype.
607016. phenotype.
OpenTargetsiENSG00000127415.
Orphaneti93473. Hurler syndrome.
93476. Hurler-Scheie syndrome.
93474. Scheie syndrome.
PharmGKBiPA29638.

Polymorphism and mutation databases

BioMutaiIDUA.
DMDMi92090608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000001220028 – 653Alpha-L-iduronidaseAdd BLAST626

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...)3 Publications1
Glycosylationi190N-linked (GlcNAc...)Sequence analysis1
Glycosylationi336N-linked (GlcNAc...)Sequence analysis1
Glycosylationi372N-linked (GlcNAc...)2 Publications1
Glycosylationi415N-linked (GlcNAc...)2 Publications1
Glycosylationi451N-linked (GlcNAc...)1 Publication1
Disulfide bondi541 ↔ 5772 Publications

Post-translational modificationi

N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity.3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP35475.
MaxQBiP35475.
PaxDbiP35475.
PeptideAtlasiP35475.
PRIDEiP35475.

PTM databases

iPTMnetiP35475.
PhosphoSitePlusiP35475.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000127415.
CleanExiHS_IDUA.
ExpressionAtlasiP35475. baseline and differential.
GenevisibleiP35475. HS.

Organism-specific databases

HPAiCAB025901.
HPA046979.
HPA054254.

Interactioni

Subunit structurei

Monomer.2 Publications

Protein-protein interaction databases

BioGridi109651. 1 interactor.
IntActiP35475. 1 interactor.
MINTiMINT-1397491.
STRINGi9606.ENSP00000247933.

Structurei

Secondary structure

1653
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi30 – 42Combined sources13
Beta strandi49 – 52Combined sources4
Helixi58 – 60Combined sources3
Helixi64 – 66Combined sources3
Helixi68 – 78Combined sources11
Helixi81 – 83Combined sources3
Beta strandi87 – 90Combined sources4
Helixi93 – 95Combined sources3
Beta strandi98 – 100Combined sources3
Turni103 – 105Combined sources3
Beta strandi108 – 110Combined sources3
Helixi112 – 123Combined sources12
Beta strandi127 – 131Combined sources5
Turni136 – 139Combined sources4
Beta strandi142 – 144Combined sources3
Helixi146 – 167Combined sources22
Helixi169 – 172Combined sources4
Beta strandi176 – 178Combined sources3
Helixi183 – 185Combined sources3
Helixi195 – 212Combined sources18
Beta strandi217 – 223Combined sources7
Helixi232 – 243Combined sources12
Turni247 – 249Combined sources3
Beta strandi257 – 261Combined sources5
Helixi269 – 286Combined sources18
Helixi288 – 290Combined sources3
Beta strandi295 – 298Combined sources4
Beta strandi302 – 304Combined sources3
Beta strandi306 – 308Combined sources3
Helixi311 – 314Combined sources4
Helixi316 – 332Combined sources17
Beta strandi334 – 336Combined sources3
Beta strandi343 – 346Combined sources4
Turni359 – 361Combined sources3
Beta strandi362 – 371Combined sources10
Beta strandi374 – 376Combined sources3
Beta strandi378 – 383Combined sources6
Helixi385 – 393Combined sources9
Beta strandi398 – 407Combined sources10
Beta strandi410 – 412Combined sources3
Beta strandi414 – 425Combined sources12
Beta strandi429 – 431Combined sources3
Beta strandi435 – 442Combined sources8
Beta strandi449 – 461Combined sources13
Beta strandi470 – 477Combined sources8
Turni478 – 480Combined sources3
Helixi483 – 489Combined sources7
Helixi498 – 505Combined sources8
Beta strandi511 – 517Combined sources7
Turni520 – 522Combined sources3
Beta strandi524 – 526Combined sources3
Beta strandi529 – 541Combined sources13
Beta strandi552 – 560Combined sources9
Beta strandi563 – 569Combined sources7
Turni571 – 573Combined sources3
Beta strandi578 – 586Combined sources9
Beta strandi602 – 607Combined sources6
Beta strandi616 – 624Combined sources9
Beta strandi636 – 638Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y24model-A36-522[»]
3W81X-ray2.30A/B27-653[»]
3W82X-ray2.76A/B27-653[»]
4KGJX-ray2.99A/B27-653[»]
4KGLX-ray2.70A/B27-653[»]
4KH2X-ray2.36A/B27-653[»]
4MJ2X-ray2.10A/B1-653[»]
4MJ4X-ray2.17A1-653[»]
4OBRX-ray2.46A/B27-653[»]
4OBSX-ray2.26A27-653[»]
ProteinModelPortaliP35475.
SMRiP35475.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni305 – 306Substrate binding2

Sequence similaritiesi

Belongs to the glycosyl hydrolase 39 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IEET. Eukaryota.
ENOG410XWW3. LUCA.
GeneTreeiENSGT00390000015494.
HOGENOMiHOG000007042.
HOVERGENiHBG006121.
InParanoidiP35475.
KOiK01217.
OMAiIANESAF.
OrthoDBiEOG091G0N7H.
PhylomeDBiP35475.
TreeFamiTF323228.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR000514. Glyco_hydro_39.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF01229. Glyco_hydro_39. 1 hit.
[Graphical view]
PRINTSiPR00745. GLHYDRLASE39.
SUPFAMiSSF51445. SSF51445. 1 hit.
PROSITEiPS01027. GLYCOSYL_HYDROL_F39. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P35475-1) [UniParc]FASTAAdd to basket

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
MRPLRPRAAL LALLASLLAA PPVAPAEAPH LVHVDAARAL WPLRRFWRST
60 70 80 90 100
GFCPPLPHSQ ADQYVLSWDQ QLNLAYVGAV PHRGIKQVRT HWLLELVTTR
110 120 130 140 150
GSTGRGLSYN FTHLDGYLDL LRENQLLPGF ELMGSASGHF TDFEDKQQVF
160 170 180 190 200
EWKDLVSSLA RRYIGRYGLA HVSKWNFETW NEPDHHDFDN VSMTMQGFLN
210 220 230 240 250
YYDACSEGLR AASPALRLGG PGDSFHTPPR SPLSWGLLRH CHDGTNFFTG
260 270 280 290 300
EAGVRLDYIS LHRKGARSSI SILEQEKVVA QQIRQLFPKF ADTPIYNDEA
310 320 330 340 350
DPLVGWSLPQ PWRADVTYAA MVVKVIAQHQ NLLLANTTSA FPYALLSNDN
360 370 380 390 400
AFLSYHPHPF AQRTLTARFQ VNNTRPPHVQ LLRKPVLTAM GLLALLDEEQ
410 420 430 440 450
LWAEVSQAGT VLDSNHTVGV LASAHRPQGP ADAWRAAVLI YASDDTRAHP
460 470 480 490 500
NRSVAVTLRL RGVPPGPGLV YVTRYLDNGL CSPDGEWRRL GRPVFPTAEQ
510 520 530 540 550
FRRMRAAEDP VAAAPRPLPA GGRLTLRPAL RLPSLLLVHV CARPEKPPGQ
560 570 580 590 600
VTRLRALPLT QGQLVLVWSD EHVGSKCLWT YEIQFSQDGK AYTPVSRKPS
610 620 630 640 650
TFNLFVFSPD TGAVSGSYRV RALDYWARPG PFSDPVPYLE VPVPRGPPSP

GNP
Length:653
Mass (Da):72,670
Last modified:April 4, 2006 - v2
Checksum:i9D2399B22FD172BD
GO
Isoform 2 (identifier: P35475-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-100: CPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTR → W
     265-324: GARSSISILE...DVTYAAMVVK → VRPAPPSAPV...PGPSCPGHPQ

Note: No experimental confirmation available.
Show »
Length:675
Mass (Da):73,455
Checksum:i6599D5F961F1E06C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti622A → T in AAA51698 (PubMed:1505961).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00334916 – 19Missing in MPS1H. 1 Publication4
Natural variantiVAR_07236718L → P in MPS1S. 1 PublicationCorresponds to variant rs794726878dbSNPEnsembl.1
Natural variantiVAR_00335033H → Q.5 PublicationsCorresponds to variant rs10794537dbSNPEnsembl.1
Natural variantiVAR_00335151G → D in MPS1H. 2 PublicationsCorresponds to variant rs794726877dbSNPEnsembl.1
Natural variantiVAR_00335275A → T in MPS1H. 2 PublicationsCorresponds to variant rs758452450dbSNPEnsembl.1
Natural variantiVAR_06621576Y → C in MPS1S. 1 PublicationCorresponds to variant rs780165694dbSNPEnsembl.1
Natural variantiVAR_02097579A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant rs747981483dbSNPEnsembl.1
Natural variantiVAR_00335382H → P in MPS1H/S. 1 PublicationCorresponds to variant rs794727239dbSNPEnsembl.1
Natural variantiVAR_02097682H → Q Reduction of protein levels. 1 PublicationCorresponds to variant rs148775298dbSNPEnsembl.1
Natural variantiVAR_06621684G → R in MPS1H/S. 1 Publication1
Natural variantiVAR_00335489R → Q in MPS1S; in Japanese 21% of alleles. 2 PublicationsCorresponds to variant rs121965029dbSNPEnsembl.1
Natural variantiVAR_00335589R → W in MPS1S. 2 PublicationsCorresponds to variant rs754966840dbSNPEnsembl.1
Natural variantiVAR_066217103T → P in MPS1H; uncertain pathological role. 1 Publication1
Natural variantiVAR_003356105R → Q.3 PublicationsCorresponds to variant rs3755955dbSNPEnsembl.1
Natural variantiVAR_003357116G → R.Corresponds to variant rs148946496dbSNPEnsembl.1
Natural variantiVAR_020977133M → I in MPS1H. 1 PublicationCorresponds to variant rs558683362dbSNPEnsembl.1
Natural variantiVAR_066218178E → K in MPS1H/S. 1 Publication1
Natural variantiVAR_020978182E → K in MPS1H. 1 PublicationCorresponds to variant rs754154200dbSNPEnsembl.1
Natural variantiVAR_066219188F → L in MPS1H/S; associated with R-423. 1 Publication1
Natural variantiVAR_020979208G → D in MPS1H. 1 Publication1
Natural variantiVAR_003358218L → P in MPS1H. 1 Publication1
Natural variantiVAR_066220219G → E in MPS1S. 1 Publication1
Natural variantiVAR_020980238L → Q in MPS1H/S. 1 PublicationCorresponds to variant rs148789453dbSNPEnsembl.1
Natural variantiVAR_020981260S → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066221265G → R in MPS1H/S. 1 PublicationCorresponds to variant rs369090960dbSNPEnsembl.1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_003359279V → A.1
Natural variantiVAR_017435300A → T in IDUA pseudodeficiency. 1 PublicationCorresponds to variant rs121965030dbSNPEnsembl.1
Natural variantiVAR_066223306W → L in MPS1S. 1 Publication1
Natural variantiVAR_003360315D → Y in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003361327A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant rs199801029dbSNPEnsembl.1
Natural variantiVAR_017436346L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant rs121965033dbSNPEnsembl.1
Natural variantiVAR_066224348N → K in MPS1S. 1 PublicationCorresponds to variant rs746766617dbSNPEnsembl.1
Natural variantiVAR_003363349 – 350Missing in MPS1H. 1 Publication2
Natural variantiVAR_003362349D → N in MPS1H. Corresponds to variant rs368454909dbSNPEnsembl.1
Natural variantiVAR_020982349D → Y in MPS1H. 1 Publication1
Natural variantiVAR_020983350N → I in MPS1S. 1 Publication1
Natural variantiVAR_003364361A → T.4 PublicationsCorresponds to variant rs6831280dbSNPEnsembl.1
Natural variantiVAR_020984363R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant rs750496798dbSNPEnsembl.1
Natural variantiVAR_003365366T → P in MPS1H. 1 PublicationCorresponds to variant rs121965024dbSNPEnsembl.1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant rs762903007dbSNPEnsembl.1
Natural variantiVAR_003367383R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant rs754949360dbSNPEnsembl.1
Natural variantiVAR_066225385P → R in MPS1H. 1 Publication1
Natural variantiVAR_003368388T → R in MPS1H. 1 Publication1
Natural variantiVAR_003369396L → LALL in MPS1H. 1
Natural variantiVAR_066226396L → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003370409G → R in MPS1H. 1 PublicationCorresponds to variant rs11934801dbSNPEnsembl.1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications1
Natural variantiVAR_066227436A → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003371445Missing in MPS1S. 1 Publication1
Natural variantiVAR_066228449H → N.1 PublicationCorresponds to variant rs532731688dbSNPEnsembl.1
Natural variantiVAR_003372454V → I.3 PublicationsCorresponds to variant rs73066479dbSNPEnsembl.1
Natural variantiVAR_003373489R → P in MPS1H. 1 PublicationCorresponds to variant rs4690226dbSNPEnsembl.1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant rs121965027dbSNPEnsembl.1
Natural variantiVAR_003375492R → P in MPS1S. 2 PublicationsCorresponds to variant rs121965026dbSNPEnsembl.1
Natural variantiVAR_003376496P → L in MPS1H/S. 1 Publication1
Natural variantiVAR_066229496P → R in MPS1H/S. 1 PublicationCorresponds to variant rs772416503dbSNPEnsembl.1
Natural variantiVAR_003377504M → T in MPS1H/S. 1 Publication1
Natural variantiVAR_003378533P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant rs121965021dbSNPEnsembl.1
Natural variantiVAR_066230535L → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066231591A → T.1 PublicationCorresponds to variant rs398123257dbSNPEnsembl.1
Natural variantiVAR_020986602F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication1
Natural variantiVAR_017437619R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant rs121965031dbSNPEnsembl.1
Natural variantiVAR_072368620V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003379626W → R in MPS1H/S. 1 Publication1
Natural variantiVAR_020987628R → P in MPS1H/S. 1 PublicationCorresponds to variant rs200448421dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05702953 – 100CPPLP…LVTTR → W in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_057030265 – 324GARSS…AMVVK → VRPAPPSAPVFCALSRCAPG RADPGGAEAAPPAGCAQLHL HPGAGEGRRAADPAALPQVR GHPHLQRRGGPAGGLVPATA VEGGRDLRGHGGEGGPAQRP ARPPATFLPRRDRRAVAAPP GPSCPGHPQ in isoform 2. 1 Publication