Results for the protein: NP

Results for the Protein: NP_001073279

119372312

2720

GLB1

NCBI

beta-galactosidase isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  GM1-GANGLIOSIDOSIS, TYPE I
  GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
  GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
  GM1-GANGLIOSIDOSIS, TYPE II
  GM1-GANGLIOSIDOSIS, TYPE III
  MUCOPOLYSACCHARIDOSIS TYPE IVB

22

2

22

2

0

Tips:

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Default View: LacA - COG1874 Glyco_hydro_35 - pfam01301 Glyco_hydro_42 - pfam02449	RefSeq Protein: NP_001073279 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyco_hydro_35	pfam01301	2.4e-192	10	327
Glyco_hydro_42	pfam02449	1.4e-07	29	330

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4302331	Polymorphism	p.CYS491ARG	N/A
dbSNP	rs73826339	Polymorphism	p.SER502CYS	N/A
OMIM	611458.0003	Disease	p.ARG171CYS	GM1-GANGLIOSIDOSIS, TYPE II
OMIM	611458.0017	Disease	p.ARG178CYS	GM1-GANGLIOSIDOSIS, TYPE I
OMIM	611458.0001	Disease	p.ARG19CYS	GM1-GANGLIOSIDOSIS, TYPE I
OMIM	611458.0016	Disease	p.ARG452CYS	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	611458.0008	Disease	p.ARG427GLN	GM1-GANGLIOSIDOSIS, TYPE III
OMIM	611458.0023	Disease	p.ARG29HIS	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT\|\|GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM	611458.0010	Disease	p.ARG452HIS	MUCOPOLYSACCHARIDOSIS TYPE IVB\|\|GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM	611458.0019	Disease	p.ARG321TER	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM	611458.0002	Disease	p.ARG427TER	GM1-GANGLIOSIDOSIS, TYPE I
OMIM	611458.0022	Disease	p.ARG38TRP	GM1-GANGLIOSIDOSIS, TYPE II
OMIM	611458.0021	Disease	p.GLN378PRO	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	611458.0006	Disease	p.GLY93ARG	GM1-GANGLIOSIDOSIS, TYPE I
OMIM	611458.0018	Disease	p.GLY408GLU	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	611458.0004	Disease	p.ILE21THR	GM1-GANGLIOSIDOSIS, TYPE III
OMIM	611458.0020	Disease	p.THR470ALA	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	611458.0013	Disease	p.THR52MET	GM1-GANGLIOSIDOSIS, TYPE III
OMIM	611458.0011	Disease	p.TRP479CYS	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	611458.0009	Disease	p.TRP243LEU	MUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM	611458.0025	Disease	p.TYR561ASN	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM	611458.0007	Disease	p.TYR286CYS	GM1-GANGLIOSIDOSIS, TYPE I
OMIM	611458.0026	Disease	p.TYR561CYS	GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM	611458.0015	Disease	p.TYR1HIS	MUCOPOLYSACCHARIDOSIS TYPE IVB

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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