Results for the protein: P08236

Results for the Protein: P08236

146345377

2990

GUSB

NCBI, UniProt

BGLR_HUMAN RecName: Full=Beta-glucuronidase; AltName: Full=Beta-G1; Flags: Precursor

Known Diseases associated with this Protein:
MUCOPOLYSACCHARIDOSIS 7 (MPS7)
MUCOPOLYSACCHARIDOSIS TYPE VII

50

3

14

1

38

Tips:

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Default View: Glyco_hydro_2_N - pfam02837 Glyco_hydro_2 - pfam00703 Glyco_hydro_2_C - pfam02836	Swiss-Prot Protein: P08236 Identical to: NP_000172 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyco_hydro_2	pfam00703	2.8e-13	226	327
Glyco_hydro_2_C	pfam02836	1.7e-180	329	631

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003197	Disease	p.ALA354VAL	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_003200	Disease	p.ALA619VAL	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037925	Disease	p.ARG374CYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_003198	Disease	p.ARG382CYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037926	Disease	p.ARG382HIS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037934	Disease	p.ARG577LEU	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037929	Disease	p.ARG435PRO	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_003196	Disease	p.ARG216TRP	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037930	Disease	p.ARG477TRP	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_003199	Disease	p.ARG611TRP	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_058514	Disease	p.ASN339SER	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037919	Polymorphism	p.ASP152ASN	N/A
Swiss-Prot	VAR_058516	Disease	p.ASP362ASN	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_058512	Disease	p.ASP152GLY	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037914	Disease	p.CYS38GLY	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037918	Disease	p.GLU150LYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_058518	Disease	p.GLU540LYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_058519	Disease	p.GLY607ALA	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037916	Disease	p.GLY136ARG	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037933	Disease	p.GLY572ASP	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037924	Disease	p.HIS351TYR	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037920	Disease	p.LEU176PHE	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_055884	Polymorphism	p.LEU376PHE	N/A
Swiss-Prot	VAR_058513	Disease	p.LEU243PRO	Mucopolysaccharidosis 7 (MPS7)
dbSNP	rs9530	Polymorphism	p.LEU649PRO	N/A
Swiss-Prot	VAR_037923	Disease	p.LYS350ASN	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037935	Disease	p.LYS606ASN	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_058517	Disease	p.PRO364LEU	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037928	Disease	p.PRO415LEU	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037917	Disease	p.PRO148SER	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_058511	Disease	p.PRO30SER	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037927	Disease	p.PRO408SER	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037915	Disease	p.SER52PHE	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_003201	Disease	p.TRP627CYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037921	Disease	p.TYR320CYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037931	Disease	p.TYR495CYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037932	Disease	p.TYR508CYS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037936	Disease	p.TYR626HIS	Mucopolysaccharidosis 7 (MPS7)
Swiss-Prot	VAR_037922	Disease	p.TYR320SER	Mucopolysaccharidosis 7 (MPS7)
OMIM	611499.0004	Disease	p.ALA354VAL	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0001	Disease	p.ALA619VAL	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0002	Disease	p.ARG382CYS	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0014	Disease	p.ARG577LEU	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0016	Disease	p.ARG356TER	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0003	Disease	p.ARG216TRP	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0005	Disease	p.ARG611TRP	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0012	Disease	p.LEU176PHE	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0013	Disease	p.LYS350ASN	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0006	Disease	p.PRO148SER	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0015	Disease	p.TRP627CYS	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0011	Disease	p.TRP446TER	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0008	Disease	p.TRP507TER	MUCOPOLYSACCHARIDOSIS TYPE VII
OMIM	611499.0007	Disease	p.TYR495CYS	MUCOPOLYSACCHARIDOSIS TYPE VII

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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