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Results for the Protein: NP_001073279
119372312

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
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Default View:

LacA - COG1874
Glyco_hydro_35 - pfam01301
Glyco_hydro_42 - pfam02449




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LacACOG18746.3e-094581
Glyco_hydro_35pfam013012.4e-19210327
Glyco_hydro_42pfam024491.4e-0729330

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4302331 Polymorphismp.CYS491ARGN/A
dbSNPrs73826339 Polymorphismp.SER502CYSN/A
OMIM611458.0003 Diseasep.ARG171CYSGM1-GANGLIOSIDOSIS, TYPE II
OMIM611458.0017 Diseasep.ARG178CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0001 Diseasep.ARG19CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0016 Diseasep.ARG452CYSMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0008 Diseasep.ARG427GLNGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0023 Diseasep.ARG29HISGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM611458.0010 Diseasep.ARG452HISMUCOPOLYSACCHARIDOSIS TYPE IVB||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM611458.0019 Diseasep.ARG321TERGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0002 Diseasep.ARG427TERGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0022 Diseasep.ARG38TRPGM1-GANGLIOSIDOSIS, TYPE II
OMIM611458.0021 Diseasep.GLN378PROMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0006 Diseasep.GLY93ARGGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0018 Diseasep.GLY408GLUMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0004 Diseasep.ILE21THRGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0020 Diseasep.THR470ALAMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0013 Diseasep.THR52METGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0011 Diseasep.TRP479CYSMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0009 Diseasep.TRP243LEUMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0025 Diseasep.TYR561ASNGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0007 Diseasep.TYR286CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0026 Diseasep.TYR561CYSGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0015 Diseasep.TYR1HISMUCOPOLYSACCHARIDOSIS TYPE IVB



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