Results for the protein: P35475

Results for the Protein: P35475

92090608

3425

IDUA

NCBI, UniProt

IDUA_HUMAN RecName: Full=Alpha-L-iduronidase; Flags: Precursor

Known Diseases associated with this Protein:
  HURLER SYNDROME
  HURLER SYNDROME, INCLUDED
  HURLER-SCHEIE SYNDROME
  IDUA PSEUDODEFICIENCY
  MUCOPOLYSACCHARIDOSIS 1H (MPS1H)
  MUCOPOLYSACCHARIDOSIS 1H/S (MPS1H/S)
  MUCOPOLYSACCHARIDOSIS 1S (MPS1S)
  SCHEIE SYNDROME

65

12

17

3

57

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Default View: Glyco_hydro_39 - pfam01229	Swiss-Prot Protein: P35475 Identical to: NP_000194 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003361	Disease	p.ALA327PRO	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_066227	Disease	p.ALA436PRO	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_017435	Polymorphism	p.ALA300THR	N/A
dbSNP	rs6831280	Polymorphism	p.ALA361THR	N/A
Swiss-Prot	VAR_066231	Polymorphism	p.ALA591THR	N/A
Swiss-Prot	VAR_003352	Disease	p.ALA75THR	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_020975	Disease	p.ALA79VAL	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_020984	Disease	p.ARG363CYS	Mucopolysaccharidosis 1H/S (MPS1H/S)
dbSNP	rs3755955	Polymorphism	p.ARG105GLN	N/A
Swiss-Prot	VAR_003354	Disease	p.ARG89GLN	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_017437	Disease	p.ARG619GLY	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003367	Disease	p.ARG383HIS	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_003373	Disease	p.ARG489PRO	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003375	Disease	p.ARG492PRO	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_020987	Disease	p.ARG628PRO	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003355	Disease	p.ARG89TRP	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_020983	Disease	p.ASN350ILE	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_066224	Disease	p.ASN348LYS	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_003362	Disease	p.ASP349ASN	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003360	Polymorphism	p.ASP315TYR	N/A
Swiss-Prot	VAR_020982	Disease	p.ASP349TYR	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003366	Disease	p.GLN380ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_066218	Disease	p.GLU178LYS	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_020978	Disease	p.GLU182LYS	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_066222	Disease	p.GLU276LYS	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_003357	Polymorphism	p.GLY116ARG	N/A
Swiss-Prot	VAR_066221	Disease	p.GLY265ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003370	Disease	p.GLY409ARG	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_066216	Disease	p.GLY84ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_020979	Disease	p.GLY208ASP	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003351	Disease	p.GLY51ASP	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_066220	Disease	p.GLY219GLU	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_066228	Polymorphism	p.HIS449ASN	N/A
Swiss-Prot	VAR_003350	Polymorphism	p.HIS33GLN	N/A
Swiss-Prot	VAR_020976	Polymorphism	p.HIS82GLN	N/A
Swiss-Prot	VAR_003353	Disease	p.HIS82PRO	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_017436	Disease	p.LEU346ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_020980	Disease	p.LEU238GLN	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_066230	Disease	p.LEU535PHE	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003358	Disease	p.LEU218PRO	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_066226	Polymorphism	p.LEU396PRO	N/A
Swiss-Prot	VAR_003374	Disease	p.LEU490PRO	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_020977	Disease	p.MET133ILE	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003377	Disease	p.MET504THR	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_020986	Disease	p.PHE602ILE	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_066219	Disease	p.PHE188LEU	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_066225	Disease	p.PRO385ARG	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_066229	Disease	p.PRO496ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003378	Disease	p.PRO533ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003376	Disease	p.PRO496LEU	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_020985	Disease	p.SER423ARG	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_020981	Disease	p.SER260PHE	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_003368	Disease	p.THR388ARG	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_066217	Disease	p.THR103PRO	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003365	Disease	p.THR366PRO	Mucopolysaccharidosis 1H (MPS1H)
Swiss-Prot	VAR_003379	Disease	p.TRP626ARG	Mucopolysaccharidosis 1H/S (MPS1H/S)
Swiss-Prot	VAR_066223	Disease	p.TRP306LEU	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_066215	Disease	p.TYR76CYS	Mucopolysaccharidosis 1S (MPS1S)
Swiss-Prot	VAR_003359	Polymorphism	p.VAL279ALA	N/A
dbSNP	rs73066479	Polymorphism	p.VAL454ILE	N/A
OMIM	252800.0016	Disease	p.ALA300THR	IDUA PSEUDODEFICIENCY
OMIM	252800.0015	Disease	p.ARG89GLN	HURLER-SCHEIE SYNDROME
OMIM	252800.0017	Disease	p.ARG619GLY	HURLER-SCHEIE SYNDROME
OMIM	252800.0011	Disease	p.ARG492PRO	SCHEIE SYNDROME
OMIM	252800.0010	Disease	p.ARG621TER	HURLER SYNDROME
OMIM	252800.0007	Disease	p.GLN310TER	HURLER SYNDROME
OMIM	252800.0002	Disease	p.GLN70TER	HURLER SYNDROME
OMIM	252800.0005	Disease	p.GLY409ARG	HURLER SYNDROME
OMIM	252800.0020	Disease	p.LEU346ARG	HURLER-SCHEIE SYNDROME\|\|HURLER SYNDROME, INCLUDED
OMIM	252800.0012	Disease	p.LEU490PRO	HURLER-SCHEIE SYNDROME
OMIM	252800.0003	Disease	p.PRO533ARG	HURLER SYNDROME
OMIM	252800.0005	Disease	p.TER654CYS	HURLER SYNDROME
OMIM	252800.0013	Disease	p.TER654GLY	HURLER-SCHEIE SYNDROME
OMIM	252800.0018	Disease	p.THR364MET	HURLER-SCHEIE SYNDROME
OMIM	252800.0008	Disease	p.THR366PRO	HURLER SYNDROME
OMIM	252800.0001	Disease	p.TRP402TER	HURLER SYNDROME
OMIM	252800.0006	Disease	p.TYR64TER	HURLER SYNDROME

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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