Results for the protein: P34059

Results for the Protein: P34059

462148

2588

GALNS

NCBI, UniProt

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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Default View: AslA - COG3119 Sulfatase - pfam00884	Swiss-Prot Protein: P34059 Identical to: NP_000503 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sulfatase	pfam00884	4.1e-132	31	453

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007213	Disease	p.ALA291ASP	Mucopolysaccharidosis 4A (MPS4A)
dbSNP	rs34745339	Polymorphism	p.ALA231GLY	N/A
dbSNP	rs2303269	Polymorphism	p.ALA393SER	N/A
Swiss-Prot	VAR_024886	Disease	p.ALA107THR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007207	Disease	p.ALA257THR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007214	Disease	p.ALA291THR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024896	Disease	p.ALA203VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007225	Disease	p.ALA351VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024915	Disease	p.ALA392VAL	Mucopolysaccharidosis 4A (MPS4A)
dbSNP	rs114703967	Polymorphism	p.ALA459VAL	N/A
Swiss-Prot	VAR_007228	Disease	p.ARG386CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007179	Disease	p.ARG94CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007208	Disease	p.ARG259GLN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007227	Disease	p.ARG376GLN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007226	Disease	p.ARG361GLY	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007180	Disease	p.ARG94GLY	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024913	Disease	p.ARG386HIS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024885	Disease	p.ARG94LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024911	Disease	p.ARG380SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024912	Disease	p.ARG380THR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024899	Disease	p.ARG253TRP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024881	Disease	p.ARG61TRP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007178	Disease	p.ARG90TRP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007233	Disease	p.ASN407HIS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007203	Disease	p.ASN204LYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007237	Disease	p.ASN487SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024892	Disease	p.ASN164THR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024894	Disease	p.ASP171ALA	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024897	Disease	p.ASP233ASN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007223	Disease	p.ASP344ASN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024914	Disease	p.ASP388ASN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007173	Disease	p.ASP60ASN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007222	Disease	p.ASP344GLU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024884	Disease	p.CYS79TYR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007184	Disease	p.GLN111ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024900	Disease	p.GLU260ASP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007201	Disease	p.GLU185GLY	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007235	Disease	p.GLU450VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007193	Disease	p.GLY155ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007197	Disease	p.GLY168ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024875	Disease	p.GLY23ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007217	Disease	p.GLY309ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007172	Disease	p.GLY47ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007206	Disease	p.GLY247ASP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024905	Disease	p.GLY340ASP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007216	Disease	p.GLY301CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007181	Disease	p.GLY96CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024890	Disease	p.GLY155GLU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024878	Disease	p.GLY42GLU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024887	Disease	p.GLY116SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007189	Disease	p.GLY139SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007212	Disease	p.GLY290SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007182	Disease	p.GLY96VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024916	Disease	p.HIS398ASP	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007196	Disease	p.HIS166GLN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024889	Disease	p.HIS150TYR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024917	Disease	p.HIS401TYR	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007185	Disease	p.ILE113PHE	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007198	Polymorphism	p.ILE178VAL	N/A
Swiss-Prot	VAR_024873	Disease	p.LEU15MET	Mucopolysaccharidosis 4A (MPS4A)
dbSNP	rs11862754	Polymorphism	p.LEU67MET	N/A
Swiss-Prot	VAR_024902	Disease	p.LEU307PRO	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024907	Disease	p.LEU345PRO	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024908	Disease	p.LEU352PRO	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024876	Disease	p.LEU36PRO	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024910	Disease	p.LEU369PRO	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007231	Disease	p.LEU395PRO	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007232	Disease	p.LEU395VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024903	Disease	p.LYS310ASN	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007219	Disease	p.MET318ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007221	Disease	p.MET343ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024877	Disease	p.MET41LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007229	Disease	p.MET391VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007239	Disease	p.MET494VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007194	Disease	p.PHE156CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024919	Disease	p.PHE452ILE	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007224	Disease	p.PHE346LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007195	Disease	p.PHE156SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024893	Disease	p.PHE167VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007210	Disease	p.PHE284VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024882	Disease	p.PHE69VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007183	Disease	p.PHE97VAL	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007175	Disease	p.PRO77ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007199	Disease	p.PRO179HIS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007186	Disease	p.PRO125LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007191	Disease	p.PRO151LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007200	Disease	p.PRO179LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024909	Disease	p.PRO357LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007192	Disease	p.PRO151SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024895	Disease	p.PRO179SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024921	Disease	p.PRO484SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_036493	Polymorphism	p.PRO510THR	N/A
Swiss-Prot	VAR_007187	Disease	p.SER135ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024906	Disease	p.SER341ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007211	Disease	p.SER287LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007177	Disease	p.SER80LEU	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024891	Disease	p.SER162PHE	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007215	Disease	p.SER295PHE	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024880	Disease	p.SER53PHE	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024920	Disease	p.SER470PRO	Mucopolysaccharidosis 4A (MPS4A)
dbSNP	rs7187889	Polymorphism	p.THR200MET	N/A
Swiss-Prot	VAR_007218	Disease	p.THR312SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007190	Disease	p.TRP141ARG	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024888	Disease	p.TRP141CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_024904	Disease	p.TRP325CYS	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007204	Disease	p.TRP230GLY	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007234	Disease	p.TRP409SER	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007188	Disease	p.VAL138ALA	Mucopolysaccharidosis 4A (MPS4A)
Swiss-Prot	VAR_007238	Polymorphism	p.VAL488MET	N/A
Swiss-Prot	VAR_024898	Disease	p.VAL239PHE	Mucopolysaccharidosis 4A (MPS4A)
OMIM	612222.0015	Disease	p.ALA291THR	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0002	Disease	p.ALA138VAL	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0003	Disease	p.ARG386CYS	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0009	Disease	p.ARG259GLN	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0008	Disease	p.ARG94GLY	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0001	Disease	p.ASN204LYS	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0007	Disease	p.ASN487SER	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0014	Disease	p.ASP60ASN	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0006	Disease	p.GLN473TER	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0018	Disease	p.GLY340ASP	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0010	Disease	p.GLY301CYS	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0005	Disease	p.ILE113PHE	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0012	Disease	p.PHE69VAL	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0011	Disease	p.SER162PHE	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0013	Disease	p.THR312SER	MUCOPOLYSACCHARIDOSIS TYPE IVA
OMIM	612222.0016	Disease	p.TRP230TER	MUCOPOLYSACCHARIDOSIS TYPE IVA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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