Results for the protein: P22304

Results for the Protein: P22304

124174

3423

IDS

NCBI, UniProt

IDS_HUMAN RecName: Full=Iduronate 2-sulfatase; AltName: Full=Alpha-L-iduronate sulfate sulfatase; Short=Idursulfase; Contains: RecName: Full=Iduronate 2-sulfatase 42 kDa chain; Contains: RecName: Full=Iduronate 2-sulfatase 14 kDa chain; Flags: Precursor

Known Diseases associated with this Protein:
  MUCOPOLYSACCHARIDOSIS 2 (MPS2)
  MUCOPOLYSACCHARIDOSIS TYPE II
  MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
  MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM

137

1

11

0

127

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Default View: AslA - COG3119 Sulfatase - pfam00884	Swiss-Prot Protein: P22304 Identical to: NP_000193 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sulfatase	pfam00884	3.5e-28	37	405

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007364	Disease	p.ALA346ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007317	Disease	p.ALA68GLU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007318	Disease	p.ALA79GLU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_008999	Disease	p.ALA82GLU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026935	Disease	p.ALA205PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026919	Disease	p.ALA85SER	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007319	Disease	p.ALA85THR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007365	Disease	p.ALA346VAL	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026918	Disease	p.ALA82VAL	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026946	Polymorphism	p.ARG313CYS	N/A
Swiss-Prot	VAR_007324	Disease	p.ARG88CYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007377	Disease	p.ARG468GLN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007375	Disease	p.ARG468GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026920	Disease	p.ARG88GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026922	Disease	p.ARG95GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007325	Disease	p.ARG88HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007376	Disease	p.ARG468LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007326	Disease	p.ARG88LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007314	Disease	p.ARG48PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007327	Disease	p.ARG88PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026923	Disease	p.ARG95THR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007378	Disease	p.ARG468TRP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007316	Disease	p.ASN63ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026933	Disease	p.ASN181ILE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026941	Disease	p.ASN265ILE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007332	Disease	p.ASN115TYR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007355	Disease	p.ASP252ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026944	Disease	p.ASP308ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026948	Disease	p.ASP334ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007313	Disease	p.ASP45ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026943	Disease	p.ASP308GLU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007348	Disease	p.ASP198GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_009002	Disease	p.ASP334GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007380	Disease	p.ASP478GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026932	Disease	p.ASP148HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007381	Disease	p.ASP478TYR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007358	Disease	p.ASP269VAL	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026955	Disease	p.CYS422ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007372	Disease	p.CYS422GLY	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007345	Disease	p.CYS184PHE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007346	Disease	p.CYS184TRP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007373	Disease	p.CYS432TYR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026929	Disease	p.GLN121ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026928	Disease	p.GLN121HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007359	Disease	p.GLN293HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_009003	Disease	p.GLN465PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_008134	Disease	p.GLU341LYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007374	Disease	p.GLU434LYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026962	Disease	p.GLU521LYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007336	Disease	p.GLU125VAL	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007386	Disease	p.GLU521VAL	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007338	Disease	p.GLY134ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026951	Disease	p.GLY336ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007362	Disease	p.GLY340ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007329	Disease	p.GLY94ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007350	Disease	p.GLY224GLU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026950	Disease	p.GLY336GLU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026931	Disease	p.GLY140VAL	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026938	Disease	p.HIS229ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026949	Disease	p.HIS335ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026930	Disease	p.HIS138ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007342	Disease	p.HIS159PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007354	Disease	p.HIS229TYR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_008135	Disease	p.HIS342TYR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007383	Disease	p.ILE485ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007382	Disease	p.ILE485LYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007330	Disease	p.LEU102ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026952	Disease	p.LEU339ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007371	Disease	p.LEU403ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026917	Disease	p.LEU73PHE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026934	Disease	p.LEU182PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007349	Disease	p.LEU221PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026940	Disease	p.LEU259PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026947	Disease	p.LEU314PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026915	Disease	p.LEU41PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026954	Disease	p.LEU410PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007328	Disease	p.LEU92PRO	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007347	Disease	p.LEU196SER	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007340	Disease	p.LYS135ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007339	Disease	p.LYS135ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007352	Disease	p.LYS227GLN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026953	Disease	p.LYS347GLN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007366	Disease	p.LYS347ILE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026936	Disease	p.LYS227MET	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007367	Disease	p.LYS347THR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007335	Disease	p.PRO120ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007344	Disease	p.PRO160ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007357	Disease	p.PRO266ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007370	Disease	p.PRO358ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026959	Disease	p.PRO480ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007322	Disease	p.PRO86ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026958	Disease	p.PRO480GLN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007321	Disease	p.PRO86GLN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007334	Disease	p.PRO120HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007356	Disease	p.PRO266HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007379	Disease	p.PRO469HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007353	Disease	p.PRO228LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026939	Disease	p.PRO231LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026956	Disease	p.PRO467LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026957	Disease	p.PRO480LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007320	Disease	p.PRO86LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026937	Disease	p.PRO228THR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_008998	Disease	p.SER71ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026916	Disease	p.SER71ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007323	Disease	p.SER87ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026942	Disease	p.SER299ILE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007369	Disease	p.SER349ILE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007360	Disease	p.SER333LEU	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007341	Disease	p.SER143PHE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_008136	Disease	p.SER491PHE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007337	Disease	p.SER132TRP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026926	Disease	p.SER117TYR	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026945	Disease	p.THR309ALA	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007333	Disease	p.THR118ILE	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007361	Disease	p.TRP337ARG	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007363	Disease	p.TRP345CYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007384	Disease	p.TRP502CYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007385	Disease	p.TRP502SER	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_009001	Disease	p.TYR264ASN	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007351	Disease	p.TYR225ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007315	Disease	p.TYR54ASP	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007331	Disease	p.TYR108CYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007387	Disease	p.TYR523CYS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_007368	Disease	p.TYR348HIS	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026924	Disease	p.TYR108SER	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026961	Disease	p.TYR490SER	Mucopolysaccharidosis 2 (MPS2)
Swiss-Prot	VAR_026921	Disease	p.VAL89PHE	Mucopolysaccharidosis 2 (MPS2)
OMIM	300823.0013	Disease	p.ARG468GLN	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
OMIM	300823.0015	Disease	p.ARG468LEU	MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM
OMIM	300823.0005	Disease	p.ARG172TER	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0001	Disease	p.ARG443TER	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0012	Disease	p.ARG468TRP	MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM
OMIM	300823.0008	Disease	p.CYS422GLY	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0009	Disease	p.LYS135ARG	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0004	Disease	p.PRO160ARG	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0002	Disease	p.SER333LEU	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0003	Disease	p.TRP502SER	MUCOPOLYSACCHARIDOSIS TYPE II
OMIM	300823.0010	Disease	p.TRP475TER	MUCOPOLYSACCHARIDOSIS TYPE II

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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