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Results for the Protein: P34059
462148

GALNS_HUMAN RecName: Full=N-acetylgalactosamine-6-sulfatase; AltName: Full=Chondroitinsulfatase; Short=Chondroitinase; AltName: Full=Galactose-6-sulfate sulfatase; Short=GalN6S; AltName: Full=N-acetylgalactosamine-6-sulfate sulfatase; Short=GalNAc6S sulfatase; Flags: Precursor

Known Diseases associated with this Protein:
  MUCOPOLYSACCHARIDOSIS 4A (MPS4A)
  MUCOPOLYSACCHARIDOSIS TYPE IVA
118
8
16
5
105
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AslA - COG3119
Sulfatase - pfam00884


Swiss-Prot Protein: P34059
Identical to: NP_000503
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AslACOG31199.8e-6626487
Sulfatasepfam008844.1e-13231453

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007213Diseasep.ALA291ASPMucopolysaccharidosis 4A (MPS4A)
dbSNPrs34745339 Polymorphismp.ALA231GLYN/A
dbSNPrs2303269 Polymorphismp.ALA393SERN/A
Swiss-ProtVAR_024886Diseasep.ALA107THRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007207Diseasep.ALA257THRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007214Diseasep.ALA291THRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024896Diseasep.ALA203VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007225Diseasep.ALA351VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024915Diseasep.ALA392VALMucopolysaccharidosis 4A (MPS4A)
dbSNPrs114703967 Polymorphismp.ALA459VALN/A
Swiss-ProtVAR_007228Diseasep.ARG386CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007179Diseasep.ARG94CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007208Diseasep.ARG259GLNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007227Diseasep.ARG376GLNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007226Diseasep.ARG361GLYMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007180Diseasep.ARG94GLYMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024913Diseasep.ARG386HISMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024885Diseasep.ARG94LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024911Diseasep.ARG380SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024912Diseasep.ARG380THRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024899Diseasep.ARG253TRPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024881Diseasep.ARG61TRPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007178Diseasep.ARG90TRPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007233Diseasep.ASN407HISMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007203Diseasep.ASN204LYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007237Diseasep.ASN487SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024892Diseasep.ASN164THRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024894Diseasep.ASP171ALAMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024897Diseasep.ASP233ASNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007223Diseasep.ASP344ASNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024914Diseasep.ASP388ASNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007173Diseasep.ASP60ASNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007222Diseasep.ASP344GLUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024884Diseasep.CYS79TYRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007184Diseasep.GLN111ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024900Diseasep.GLU260ASPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007201Diseasep.GLU185GLYMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007235Diseasep.GLU450VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007193Diseasep.GLY155ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007197Diseasep.GLY168ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024875Diseasep.GLY23ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007217Diseasep.GLY309ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007172Diseasep.GLY47ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007206Diseasep.GLY247ASPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024905Diseasep.GLY340ASPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007216Diseasep.GLY301CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007181Diseasep.GLY96CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024890Diseasep.GLY155GLUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024878Diseasep.GLY42GLUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024887Diseasep.GLY116SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007189Diseasep.GLY139SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007212Diseasep.GLY290SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007182Diseasep.GLY96VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024916Diseasep.HIS398ASPMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007196Diseasep.HIS166GLNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024889Diseasep.HIS150TYRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024917Diseasep.HIS401TYRMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007185Diseasep.ILE113PHEMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007198Polymorphismp.ILE178VALN/A
Swiss-ProtVAR_024873Diseasep.LEU15METMucopolysaccharidosis 4A (MPS4A)
dbSNPrs11862754 Polymorphismp.LEU67METN/A
Swiss-ProtVAR_024902Diseasep.LEU307PROMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024907Diseasep.LEU345PROMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024908Diseasep.LEU352PROMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024876Diseasep.LEU36PROMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024910Diseasep.LEU369PROMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007231Diseasep.LEU395PROMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007232Diseasep.LEU395VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024903Diseasep.LYS310ASNMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007219Diseasep.MET318ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007221Diseasep.MET343ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024877Diseasep.MET41LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007229Diseasep.MET391VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007239Diseasep.MET494VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007194Diseasep.PHE156CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024919Diseasep.PHE452ILEMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007224Diseasep.PHE346LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007195Diseasep.PHE156SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024893Diseasep.PHE167VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007210Diseasep.PHE284VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024882Diseasep.PHE69VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007183Diseasep.PHE97VALMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007175Diseasep.PRO77ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007199Diseasep.PRO179HISMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007186Diseasep.PRO125LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007191Diseasep.PRO151LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007200Diseasep.PRO179LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024909Diseasep.PRO357LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007192Diseasep.PRO151SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024895Diseasep.PRO179SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024921Diseasep.PRO484SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_036493Polymorphismp.PRO510THRN/A
Swiss-ProtVAR_007187Diseasep.SER135ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024906Diseasep.SER341ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007211Diseasep.SER287LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007177Diseasep.SER80LEUMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024891Diseasep.SER162PHEMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007215Diseasep.SER295PHEMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024880Diseasep.SER53PHEMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024920Diseasep.SER470PROMucopolysaccharidosis 4A (MPS4A)
dbSNPrs7187889 Polymorphismp.THR200METN/A
Swiss-ProtVAR_007218Diseasep.THR312SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007190Diseasep.TRP141ARGMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024888Diseasep.TRP141CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_024904Diseasep.TRP325CYSMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007204Diseasep.TRP230GLYMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007234Diseasep.TRP409SERMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007188Diseasep.VAL138ALAMucopolysaccharidosis 4A (MPS4A)
Swiss-ProtVAR_007238Polymorphismp.VAL488METN/A
Swiss-ProtVAR_024898Diseasep.VAL239PHEMucopolysaccharidosis 4A (MPS4A)
OMIM612222.0015 Diseasep.ALA291THRMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0002 Diseasep.ALA138VALMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0003 Diseasep.ARG386CYSMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0009 Diseasep.ARG259GLNMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0008 Diseasep.ARG94GLYMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0001 Diseasep.ASN204LYSMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0007 Diseasep.ASN487SERMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0014 Diseasep.ASP60ASNMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0006 Diseasep.GLN473TERMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0018 Diseasep.GLY340ASPMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0010 Diseasep.GLY301CYSMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0005 Diseasep.ILE113PHEMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0012 Diseasep.PHE69VALMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0011 Diseasep.SER162PHEMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0013 Diseasep.THR312SERMUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM612222.0016 Diseasep.TRP230TERMUCOPOLYSACCHARIDOSIS TYPE IVA



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