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Results for the Protein: NP_001129074
208022658

beta-galactosidase isoform c preproprotein [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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Glyco_hydro_35 - pfam01301




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glyco_hydro_35pfam013018.5e-2440226

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4302331 Polymorphismp.CYS390ARGN/A
dbSNPrs7637099 Polymorphismp.PRO10LEUN/A
dbSNPrs73826339 Polymorphismp.SER401CYSN/A
OMIM611458.0003 611458.0017 Diseasep.ARG1CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0016 Diseasep.ARG351CYSMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0001 Diseasep.ARG49CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0008 Diseasep.ARG326GLNGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0010 Diseasep.ARG351HISMUCOPOLYSACCHARIDOSIS TYPE IVB||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM611458.0023 Diseasep.ARG59HISGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED
OMIM611458.0019 Diseasep.ARG220TERGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0002 Diseasep.ARG326TERGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0022 Diseasep.ARG68TRPGM1-GANGLIOSIDOSIS, TYPE II
OMIM611458.0021 Diseasep.GLN277PROMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0006 Diseasep.GLY1ARGGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0018 Diseasep.GLY307GLUMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0004 Diseasep.ILE51THRGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0020 Diseasep.THR369ALAMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0013 Diseasep.THR82METGM1-GANGLIOSIDOSIS, TYPE III
OMIM611458.0011 Diseasep.TRP378CYSMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0009 Diseasep.TRP142LEUMUCOPOLYSACCHARIDOSIS TYPE IVB
OMIM611458.0025 Diseasep.TYR460ASNGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0007 Diseasep.TYR185CYSGM1-GANGLIOSIDOSIS, TYPE I
OMIM611458.0026 Diseasep.TYR460CYSGM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT
OMIM611458.0015 Diseasep.TYR83HISMUCOPOLYSACCHARIDOSIS TYPE IVB



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