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Protein

N-acetylgalactosamine-6-sulfatase

Gene

GALNS

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

Functioni

Catalytic activityi

Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.1 Publication

Cofactori

Ca2+1 PublicationNote: Binds 1 Ca2+ ion per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi39Calcium1 Publication1
Metal bindingi40Calcium1 Publication1
Metal bindingi79Calcium; via 3-oxoalanine1 Publication1
Metal bindingi288Calcium1 Publication1
Metal bindingi289Calcium1 Publication1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • N-acetylgalactosamine-4-sulfatase activity Source: ProtInc
  • N-acetylgalactosamine-6-sulfatase activity Source: UniProtKB-EC
  • sulfuric ester hydrolase activity Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06790-MONOMER.
ZFISH:HS06790-MONOMER.
BRENDAi3.1.6.4. 2681.
ReactomeiR-HSA-2022857. Keratan sulfate degradation.
R-HSA-6798695. Neutrophil degranulation.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylgalactosamine-6-sulfatase (EC:3.1.6.4)
Alternative name(s):
Chondroitinsulfatase
Short name:
Chondroitinase
Galactose-6-sulfate sulfatase
Short name:
GalN6S
N-acetylgalactosamine-6-sulfate sulfatase
Short name:
GalNAc6S sulfatase
Gene namesi
Name:GALNS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:4122. GALNS.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 4A (MPS4A)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.
See also OMIM:253000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02487315L → M in MPS4A. 1 Publication1
Natural variantiVAR_07156916V → E in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs794729202dbSNPEnsembl.1
Natural variantiVAR_02487417 – 18Missing in MPS4A. 1 Publication2
Natural variantiVAR_02487523G → R in MPS4A. 1 Publication1
Natural variantiVAR_02487636L → P in MPS4A. 1 Publication1
Natural variantiVAR_07157036L → R in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs755832705dbSNPEnsembl.1
Natural variantiVAR_07157140D → N in MPS4A. 1 Publication1
Natural variantiVAR_02487741M → L in MPS4A. 1 Publication1
Natural variantiVAR_02487842G → E in MPS4A. 1 Publication1
Natural variantiVAR_00717247G → R in MPS4A; severe form. Corresponds to variant rs199638097dbSNPEnsembl.1
Natural variantiVAR_07157248V → G in MPS4A. 1 PublicationCorresponds to variant rs191519947dbSNPEnsembl.1
Natural variantiVAR_07157351E → K in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_02487952 – 55Missing in MPS4A. 1 Publication4
Natural variantiVAR_02488053S → F in MPS4A. 1 Publication1
Natural variantiVAR_00717360D → N in MPS4A; mild form. Corresponds to variant rs118204447dbSNPEnsembl.1
Natural variantiVAR_02488161R → W in MPS4A. 2 PublicationsCorresponds to variant rs145798311dbSNPEnsembl.1
Natural variantiVAR_00717467L → M Associated with S-409 in a MPS4A patient. 1 PublicationCorresponds to variant rs11862754dbSNPEnsembl.1
Natural variantiVAR_02488269F → V in MPS4A. 1 PublicationCorresponds to variant rs118204445dbSNPEnsembl.1
Natural variantiVAR_02488371 – 74NFYS → T in MPS4A. 1 Publication4
Natural variantiVAR_00717577P → R in MPS4A; severe form. 3 Publications1
Natural variantiVAR_02488479C → Y in MPS4A. 1 Publication1
Natural variantiVAR_00717780S → L in MPS4A; intermediate form. 2 Publications1
Natural variantiVAR_07157581P → L in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_07157684A → E in MPS4A; loss of enzymatic activity. 1 PublicationCorresponds to variant rs141340188dbSNPEnsembl.1
Natural variantiVAR_00717890R → W in MPS4A; severe form. 3 Publications1
Natural variantiVAR_07157791L → P in MPS4A; loss of enzymatic activity. 1 Publication1
Natural variantiVAR_00717994R → C in MPS4A; mild/intermediate form. 3 Publications1
Natural variantiVAR_00718094R → G in MPS4A; mild/intermediate form. Corresponds to variant rs118204441dbSNPEnsembl.1
Natural variantiVAR_02488594R → L in MPS4A. 2 Publications1
Natural variantiVAR_00718196G → C in MPS4A. 1
Natural variantiVAR_00718296G → V in MPS4A; severe form. 3 Publications1
Natural variantiVAR_00718397F → V in MPS4A; mild form. 2 Publications1
Natural variantiVAR_024886107A → T in MPS4A. 1 PublicationCorresponds to variant rs763184657dbSNPEnsembl.1
Natural variantiVAR_007184111Q → R in MPS4A; intermediate form. 1
Natural variantiVAR_007185113I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 3 PublicationsCorresponds to variant rs118204438dbSNPEnsembl.1
Natural variantiVAR_024887116G → S in MPS4A. 2 Publications1
Natural variantiVAR_071578116G → V in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007186125P → L in MPS4A; severe form. 1 PublicationCorresponds to variant rs746949976dbSNPEnsembl.1
Natural variantiVAR_007187135S → R in MPS4A; severe form. 1 Publication1
Natural variantiVAR_007188138V → A in MPS4A; mild/severe/intermediate form. 1 PublicationCorresponds to variant rs118204436dbSNPEnsembl.1
Natural variantiVAR_007189139G → S in MPS4A; severe form. 2 PublicationsCorresponds to variant rs146093755dbSNPEnsembl.1
Natural variantiVAR_024888141W → C in MPS4A. 1 Publication1
Natural variantiVAR_007190141W → R in MPS4A; severe form. 1 PublicationCorresponds to variant rs794727625dbSNPEnsembl.1
Natural variantiVAR_071580145H → Y in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs577334837dbSNPEnsembl.1
Natural variantiVAR_024889150H → Y in MPS4A. 1 Publication1
Natural variantiVAR_007191151P → L in MPS4A; severe form. 4 PublicationsCorresponds to variant rs559063128dbSNPEnsembl.1
Natural variantiVAR_007192151P → S in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024890155G → E in MPS4A. 1 Publication1
Natural variantiVAR_007193155G → R in MPS4A; severe form. 1 PublicationCorresponds to variant rs398123438dbSNPEnsembl.1
Natural variantiVAR_007194156F → C in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071581156F → L in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007195156F → S in MPS4A; mild form. 1
Natural variantiVAR_024891162S → F in MPS4A. 1 PublicationCorresponds to variant rs118204444dbSNPEnsembl.1
Natural variantiVAR_024892164N → T in MPS4A. 1 PublicationCorresponds to variant rs761725425dbSNPEnsembl.1
Natural variantiVAR_007196166H → Q in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071584166H → R in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_024893167F → V in MPS4A. 1 PublicationCorresponds to variant rs148565559dbSNPEnsembl.1
Natural variantiVAR_007197168G → R in MPS4A. Corresponds to variant rs775732598dbSNPEnsembl.1
Natural variantiVAR_024894171D → A in MPS4A. 1 Publication1
Natural variantiVAR_007199179P → H in MPS4A; severe form. 1
Natural variantiVAR_007200179P → L in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024895179P → S in MPS4A. 2 Publications1
Natural variantiVAR_007201185E → G in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071585201G → E in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs772413313dbSNPEnsembl.1
Natural variantiVAR_024896203A → V in MPS4A. 1 Publication1
Natural variantiVAR_007203204N → K in MPS4A; mild form. 1 PublicationCorresponds to variant rs118204435dbSNPEnsembl.1
Natural variantiVAR_071586214L → P in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs771810111dbSNPEnsembl.1
Natural variantiVAR_071587216F → S in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs747805226dbSNPEnsembl.1
Natural variantiVAR_007204230W → G in MPS4A; severe form. 3 Publications1
Natural variantiVAR_024897233D → N in MPS4A. 2 PublicationsCorresponds to variant rs753051547dbSNPEnsembl.1
Natural variantiVAR_071588235T → K in MPS4A. 1 PublicationCorresponds to variant rs398123440dbSNPEnsembl.1
Natural variantiVAR_024898239V → F in MPS4A. 1 Publication1
Natural variantiVAR_007206247G → D in MPS4A. Corresponds to variant rs761385192dbSNPEnsembl.1
Natural variantiVAR_024899253R → W in MPS4A. 1 PublicationCorresponds to variant rs775300515dbSNPEnsembl.1
Natural variantiVAR_007207257A → T in MPS4A; severe form. 1 PublicationCorresponds to variant rs773283163dbSNPEnsembl.1
Natural variantiVAR_007208259R → Q in MPS4A; mild form. Corresponds to variant rs118204442dbSNPEnsembl.1
Natural variantiVAR_024900260E → D in MPS4A. 1 Publication1
Natural variantiVAR_071592264S → T in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007209279 – 287Missing in MPS4A; mild form. 9
Natural variantiVAR_007210284F → V in MPS4A; severe form. 1 PublicationCorresponds to variant rs144067930dbSNPEnsembl.1
Natural variantiVAR_024901285Missing in MPS4A. 1 Publication1
Natural variantiVAR_007211287S → L in MPS4A; severe form. 1 PublicationCorresponds to variant rs770053354dbSNPEnsembl.1
Natural variantiVAR_007212290G → S in MPS4A; severe form. 1 Publication1
Natural variantiVAR_007213291A → D in MPS4A; mild form. 1
Natural variantiVAR_007214291A → T in MPS4A; severe form. 3 PublicationsCorresponds to variant rs118204448dbSNPEnsembl.1
Natural variantiVAR_007215295S → F in MPS4A; mild form. Corresponds to variant rs149239881dbSNPEnsembl.1
Natural variantiVAR_007216301G → C in MPS4A; severe form. 1 PublicationCorresponds to variant rs118204443dbSNPEnsembl.1
Natural variantiVAR_024902307L → P in MPS4A. 1 Publication1
Natural variantiVAR_007217309G → R in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024903310K → N in MPS4A. 1 Publication1
Natural variantiVAR_007218312T → S in MPS4A; mild/intermediate/severe form. 2 PublicationsCorresponds to variant rs118204446dbSNPEnsembl.1
Natural variantiVAR_007219318M → R in MPS4A; severe form. 1 PublicationCorresponds to variant rs746756997dbSNPEnsembl.1
Natural variantiVAR_024904325W → C in MPS4A. 1 Publication1
Natural variantiVAR_007220325Missing in MPS4A. 1
Natural variantiVAR_024905340G → D in MPS4A. 1 PublicationCorresponds to variant rs267606838dbSNPEnsembl.1
Natural variantiVAR_024906341S → R in MPS4A. 1 Publication1
Natural variantiVAR_007221343M → R in MPS4A; severe form. 1
Natural variantiVAR_007222344D → E in MPS4A. 1
Natural variantiVAR_007223344D → N in MPS4A; severe form. 1
Natural variantiVAR_024907345L → P in MPS4A. 1 Publication1
Natural variantiVAR_007224346F → L in MPS4A; severe form. 1
Natural variantiVAR_007225351A → V in MPS4A; severe form. 1 PublicationCorresponds to variant rs761386453dbSNPEnsembl.1
Natural variantiVAR_024908352L → P in MPS4A. 1 Publication1
Natural variantiVAR_024909357P → L in MPS4A. 2 PublicationsCorresponds to variant rs769748679dbSNPEnsembl.1
Natural variantiVAR_007226361R → G in MPS4A. Corresponds to variant rs778120439dbSNPEnsembl.1
Natural variantiVAR_024910369L → P in MPS4A. 1 Publication1
Natural variantiVAR_007227376R → Q in MPS4A; severe form. 1 PublicationCorresponds to variant rs150734270dbSNPEnsembl.1
Natural variantiVAR_071593380R → G in MPS4A; loss of enzymatic activity. 1 PublicationCorresponds to variant rs770908172dbSNPEnsembl.1
Natural variantiVAR_024911380R → S in MPS4A. 1 PublicationCorresponds to variant rs200763834dbSNPEnsembl.1
Natural variantiVAR_024912380R → T in MPS4A. 2 Publications1
Natural variantiVAR_007228386R → C in MPS4A; severe form. 3 PublicationsCorresponds to variant rs118204437dbSNPEnsembl.1
Natural variantiVAR_024913386R → H in MPS4A. 2 Publications1
Natural variantiVAR_024914388D → N in MPS4A. 1 PublicationCorresponds to variant rs373739301dbSNPEnsembl.1
Natural variantiVAR_007229391M → V in MPS4A; severe form. 2 PublicationsCorresponds to variant rs398123429dbSNPEnsembl.1
Natural variantiVAR_024915392A → V in MPS4A. 2 PublicationsCorresponds to variant rs398123430dbSNPEnsembl.1
Natural variantiVAR_007231395L → P in MPS4A. 1 Publication1
Natural variantiVAR_007232395L → V in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024916398H → D in MPS4A. 1 Publication1
Natural variantiVAR_024917401H → Y in MPS4A. 1 Publication1
Natural variantiVAR_024918403 – 404Missing in MPS4A. 1 Publication2
Natural variantiVAR_007233407N → H in MPS4A. 1 PublicationCorresponds to variant rs749578474dbSNPEnsembl.1
Natural variantiVAR_007234409W → S in MPS4A; associated with M-67 in a patient. 1
Natural variantiVAR_071594415G → V in MPS4A; loss of enzymatic activity. 1 Publication1
Natural variantiVAR_071595416I → T in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs142822371dbSNPEnsembl.1
Natural variantiVAR_071596420P → R in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007235450E → V in MPS4A; severe form. 1
Natural variantiVAR_024919452F → I in MPS4A. 1 PublicationCorresponds to variant rs398123432dbSNPEnsembl.1
Natural variantiVAR_024920470S → P in MPS4A. 1 Publication1
Natural variantiVAR_024921484P → S in MPS4A. 1 Publication1
Natural variantiVAR_007237487N → S in MPS4A. 2 PublicationsCorresponds to variant rs118204440dbSNPEnsembl.1
Natural variantiVAR_071597492A → T in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs760300454dbSNPEnsembl.1
Natural variantiVAR_007239494M → V in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071599500G → S in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_071600507C → F in MPS4A. 1 PublicationCorresponds to variant rs398123433dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism, Mucopolysaccharidosis

Organism-specific databases

DisGeNETi2588.
MalaCardsiGALNS.
MIMi253000. phenotype.
OpenTargetsiENSG00000141012.
Orphaneti309297. Mucopolysaccharidosis type 4A.
PharmGKBiPA28535.

Chemistry databases

DrugBankiDB09051. Elosulfase alfa.

Polymorphism and mutation databases

BioMutaiGALNS.
DMDMi462148.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Add BLAST26
ChainiPRO_000003341127 – 522N-acetylgalactosamine-6-sulfataseAdd BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei793-oxoalanine (Cys)1 Publication1
Glycosylationi204N-linked (GlcNAc...)1 Publication1
Disulfide bondi308 ↔ 4191 Publication
Glycosylationi423N-linked (GlcNAc...)2 Publications1
Disulfide bondi489 ↔ 5181 Publication
Disulfide bondi501 ↔ 5071 Publication

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.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP34059.
MaxQBiP34059.
PaxDbiP34059.
PeptideAtlasiP34059.
PRIDEiP34059.

PTM databases

iPTMnetiP34059.
PhosphoSitePlusiP34059.

Expressioni

Gene expression databases

BgeeiENSG00000141012.
CleanExiHS_GALNS.
ExpressionAtlasiP34059. baseline and differential.
GenevisibleiP34059. HS.

Organism-specific databases

HPAiCAB026404.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108860. 29 interactors.
IntActiP34059. 1 interactor.
STRINGi9606.ENSP00000268695.

Structurei

Secondary structure

1522
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi32 – 40Combined sources9
Helixi47 – 49Combined sources3
Helixi57 – 64Combined sources8
Beta strandi66 – 68Combined sources3
Beta strandi70 – 73Combined sources4
Beta strandi75 – 78Combined sources4
Helixi79 – 88Combined sources10
Helixi92 – 95Combined sources4
Helixi124 – 128Combined sources5
Helixi129 – 131Combined sources3
Beta strandi134 – 139Combined sources6
Helixi147 – 149Combined sources3
Helixi151 – 153Combined sources3
Beta strandi157 – 161Combined sources5
Beta strandi172 – 175Combined sources4
Beta strandi179 – 182Combined sources4
Beta strandi185 – 190Combined sources6
Turni191 – 193Combined sources3
Turni198 – 200Combined sources3
Helixi205 – 220Combined sources16
Turni221 – 223Combined sources3
Beta strandi226 – 231Combined sources6
Beta strandi236 – 238Combined sources3
Helixi243 – 245Combined sources3
Helixi252 – 274Combined sources23
Helixi278 – 280Combined sources3
Beta strandi281 – 289Combined sources9
Turni296 – 298Combined sources3
Beta strandi312 – 314Combined sources3
Helixi315 – 318Combined sources4
Beta strandi322 – 325Combined sources4
Turni327 – 329Combined sources3
Helixi344 – 353Combined sources10
Beta strandi359 – 361Combined sources3
Helixi369 – 374Combined sources6
Beta strandi382 – 386Combined sources5
Beta strandi389 – 395Combined sources7
Beta strandi398 – 404Combined sources7
Helixi409 – 413Combined sources5
Turni425 – 427Combined sources3
Beta strandi436 – 438Combined sources3
Beta strandi440 – 443Combined sources4
Turni444 – 446Combined sources3
Helixi459 – 477Combined sources19
Beta strandi485 – 489Combined sources5
Helixi491 – 493Combined sources3
Beta strandi494 – 497Combined sources4
Helixi501 – 504Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4FDIX-ray2.20A/B27-522[»]
4FDJX-ray2.81A/B27-522[»]
ProteinModelPortaliP34059.
SMRiP34059.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni27 – 379Catalytic domainAdd BLAST353

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00760000119062.
HOGENOMiHOG000135352.
HOVERGENiHBG004283.
InParanoidiP34059.
KOiK01132.
OMAiHFGPYNS.
OrthoDBiEOG091G07AL.
PhylomeDBiP34059.
TreeFamiTF314186.

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. 1 hit.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P34059-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG
60 70 80 90 100
EPSRETPNLD RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT
110 120 130 140 150
NAHARNAYTP QEIVGGIPDS EQLLPELLKK AGYVSKIVGK WHLGHRPQFH
160 170 180 190 200
PLKHGFDEWF GSPNCHFGPY DNKARPNIPV YRDWEMVGRY YEEFPINLKT
210 220 230 240 250
GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY ASKPFLGTSQ
260 270 280 290 300
RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG
310 320 330 340 350
GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL
360 370 380 390 400
ALAGLTPPSD RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA
410 420 430 440 450
HFWTWTNSWE NFRQGIDFCP GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE
460 470 480 490 500
RFPLSFASAE YQEALSRITS VVQQHQEALV PAQPQLNVCN WAVMNWAPPG
510 520
CEKLGKCLTP PESIPKKCLW SH
Length:522
Mass (Da):58,026
Last modified:February 1, 1994 - v1
Checksum:i1D086E528AAAE949
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02487315L → M in MPS4A. 1 Publication1
Natural variantiVAR_07156916V → E in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs794729202dbSNPEnsembl.1
Natural variantiVAR_02487417 – 18Missing in MPS4A. 1 Publication2
Natural variantiVAR_02487523G → R in MPS4A. 1 Publication1
Natural variantiVAR_02487636L → P in MPS4A. 1 Publication1
Natural variantiVAR_07157036L → R in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant rs755832705dbSNPEnsembl.1
Natural variantiVAR_07157140D → N in MPS4A. 1 Publication1
Natural variantiVAR_02487741M → L in MPS4A. 1 Publication1
Natural variantiVAR_02487842G → E in MPS4A. 1 Publication1
Natural variantiVAR_00717247G → R in MPS4A; severe form. Corresponds to variant rs199638097dbSNPEnsembl.1
Natural variantiVAR_07157248V → G in MPS4A. 1 PublicationCorresponds to variant rs191519947dbSNPEnsembl.1
Natural variantiVAR_07157351E → K in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_02487952 – 55Missing in MPS4A. 1 Publication4
Natural variantiVAR_02488053S → F in MPS4A. 1 Publication1
Natural variantiVAR_00717360D → N in MPS4A; mild form. Corresponds to variant rs118204447dbSNPEnsembl.1
Natural variantiVAR_02488161R → W in MPS4A. 2 PublicationsCorresponds to variant rs145798311dbSNPEnsembl.1
Natural variantiVAR_00717467L → M Associated with S-409 in a MPS4A patient. 1 PublicationCorresponds to variant rs11862754dbSNPEnsembl.1
Natural variantiVAR_02488269F → V in MPS4A. 1 PublicationCorresponds to variant rs118204445dbSNPEnsembl.1
Natural variantiVAR_02488371 – 74NFYS → T in MPS4A. 1 Publication4
Natural variantiVAR_07157474S → F.1 Publication1
Natural variantiVAR_00717577P → R in MPS4A; severe form. 3 Publications1
Natural variantiVAR_02488479C → Y in MPS4A. 1 Publication1
Natural variantiVAR_00717780S → L in MPS4A; intermediate form. 2 Publications1
Natural variantiVAR_07157581P → L in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_07157684A → E in MPS4A; loss of enzymatic activity. 1 PublicationCorresponds to variant rs141340188dbSNPEnsembl.1
Natural variantiVAR_00717890R → W in MPS4A; severe form. 3 Publications1
Natural variantiVAR_07157791L → P in MPS4A; loss of enzymatic activity. 1 Publication1
Natural variantiVAR_00717994R → C in MPS4A; mild/intermediate form. 3 Publications1
Natural variantiVAR_00718094R → G in MPS4A; mild/intermediate form. Corresponds to variant rs118204441dbSNPEnsembl.1
Natural variantiVAR_02488594R → L in MPS4A. 2 Publications1
Natural variantiVAR_00718196G → C in MPS4A. 1
Natural variantiVAR_00718296G → V in MPS4A; severe form. 3 Publications1
Natural variantiVAR_00718397F → V in MPS4A; mild form. 2 Publications1
Natural variantiVAR_024886107A → T in MPS4A. 1 PublicationCorresponds to variant rs763184657dbSNPEnsembl.1
Natural variantiVAR_007184111Q → R in MPS4A; intermediate form. 1
Natural variantiVAR_007185113I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 3 PublicationsCorresponds to variant rs118204438dbSNPEnsembl.1
Natural variantiVAR_024887116G → S in MPS4A. 2 Publications1
Natural variantiVAR_071578116G → V in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_071579121E → D.1 Publication1
Natural variantiVAR_007186125P → L in MPS4A; severe form. 1 PublicationCorresponds to variant rs746949976dbSNPEnsembl.