Results for the protein: P54802

Results for the Protein: P54802

317373322

4669

NAGLU

NCBI, UniProt

ANAG_HUMAN RecName: Full=Alpha-N-acetylglucosaminidase; AltName: Full=N-acetyl-alpha-glucosaminidase; Short=NAG; Contains: RecName: Full=Alpha-N-acetylglucosaminidase 82 kDa form; Contains: RecName: Full=Alpha-N-acetylglucosaminidase 77 kDa form; Flags: Precursor

Known Diseases associated with this Protein:
MUCOPOLYSACCHARIDOSIS 3B (MPS3B)
MUCOPOLYSACCHARIDOSIS TYPE IIIB

80

3

13

2

68

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Default View: NAGLU - pfam05089	Swiss-Prot Protein: P54802 Identical to: NP_000254 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_054713	Disease	p.ALA246PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005013	Disease	p.ALA664VAL	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054706	Disease	p.ARG130CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054710	Disease	p.ARG234CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_025494	Disease	p.ARG643CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054738	Disease	p.ARG674CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054726	Disease	p.ARG482GLN	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008989	Disease	p.ARG565GLN	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008991	Polymorphism	p.ARG737GLY	N/A
Swiss-Prot	VAR_005012	Disease	p.ARG643HIS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005014	Disease	p.ARG674HIS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_025492	Disease	p.ARG565PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054739	Disease	p.ARG676PRO	Mucopolysaccharidosis 3B (MPS3B)
dbSNP	rs86312	Polymorphism	p.ARG737SER	N/A
Swiss-Prot	VAR_054700	Disease	p.ARG38TRP	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008987	Disease	p.ARG482TRP	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054729	Disease	p.ARG520TRP	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_025493	Disease	p.ARG565TRP	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008983	Disease	p.CYS277PHE	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005010	Disease	p.GLU153LYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054723	Disease	p.GLU446LYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008986	Disease	p.GLU452LYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008990	Disease	p.GLU705LYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008985	Disease	p.GLY292ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054705	Disease	p.GLY82ASP	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008979	Disease	p.GLY79CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054720	Disease	p.GLY412GLU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054736	Disease	p.GLY650GLU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054702	Disease	p.GLY69SER	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054704	Disease	p.GLY79SER	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008980	Disease	p.HIS100ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054714	Disease	p.HIS248ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054721	Disease	p.HIS414ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054709	Disease	p.HIS227PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054707	Disease	p.ILE154ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008988	Disease	p.LEU561ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005015	Disease	p.LEU682ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054699	Disease	p.LEU35PHE	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054734	Disease	p.LEU617PHE	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054712	Disease	p.LEU242PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008984	Disease	p.LEU280PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054731	Disease	p.LEU560PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054732	Disease	p.LEU591PRO	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054701	Disease	p.PHE48CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_025490	Disease	p.PHE314LEU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_025489	Disease	p.PHE48LEU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054719	Disease	p.PHE410SER	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_008982	Disease	p.PRO243LEU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005011	Disease	p.PRO358LEU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054728	Disease	p.PRO516LEU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_025491	Disease	p.PRO521LEU	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005008	Disease	p.PRO115SER	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054733	Disease	p.SER612GLY	Mucopolysaccharidosis 3B (MPS3B)
dbSNP	rs61737294	Polymorphism	p.SER141THR	N/A
Swiss-Prot	VAR_054730	Disease	p.SER534TYR	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054722	Disease	p.THR437ILE	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054715	Disease	p.TRP268ARG	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054708	Disease	p.TRP156CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054735	Disease	p.TRP649CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054725	Disease	p.TRP474GLY	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005009	Disease	p.TYR140CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054716	Disease	p.TYR309CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054718	Disease	p.TYR335CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054724	Disease	p.TYR455CYS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_005007	Disease	p.TYR92HIS	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054737	Disease	p.TYR658PHE	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054727	Disease	p.VAL501GLY	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054703	Disease	p.VAL77GLY	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054711	Disease	p.VAL241MET	Mucopolysaccharidosis 3B (MPS3B)
Swiss-Prot	VAR_054717	Disease	p.VAL334PHE	Mucopolysaccharidosis 3B (MPS3B)
OMIM	609701.0013	Disease	p.ARG234CYS	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0006	Disease	p.ARG643CYS	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0014	Disease	p.ARG565GLN	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0004	Disease	p.ARG643HIS	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0001	Disease	p.ARG674HIS	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0009	Disease	p.ARG565PRO	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0003	Disease	p.ARG297TER	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0002	Disease	p.ARG626TER	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0012	Disease	p.ARG482TRP	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0008	Disease	p.ARG565TRP	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0011	Disease	p.PHE314LEU	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0010	Disease	p.PHE48LEU	MUCOPOLYSACCHARIDOSIS TYPE IIIB
OMIM	609701.0007	Disease	p.PRO521LEU	MUCOPOLYSACCHARIDOSIS TYPE IIIB

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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