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Results for the Protein: P10619
20178316

PPGB_HUMAN RecName: Full=Lysosomal protective protein; AltName: Full=Carboxypeptidase C; AltName: Full=Carboxypeptidase L; AltName: Full=Cathepsin A; AltName: Full=Protective protein cathepsin A; Short=PPCA; AltName: Full=Protective protein for beta-galactosidase; Contains: RecName: Full=Lysosomal protective protein 32 kDa chain; Contains: RecName: Full=Lysosomal protective protein 20 kDa chain; Flags: Precursor

Known Diseases associated with this Protein:
  GALACTOSIALIDOSIS
  GALACTOSIALIDOSIS (GSL)
  GALACTOSIALIDOSIS, EARLY INFANTILE
  GALACTOSIALIDOSIS, LATE INFANTILE
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12
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12
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Default View:

COG2939 - COG2939
Peptidase_S10 - pfam00450


Swiss-Prot Protein: P10619
Identical to: NP_001121167
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG2939COG29393.5e-213479
Peptidase_S10pfam004502.6e-20139477

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_001385Diseasep.GLN49ARGGalactosialidosis (GSL)
Swiss-ProtVAR_063022Diseasep.GLY439SERGalactosialidosis (GSL)
Swiss-ProtVAR_063020Diseasep.LEU236PROGalactosialidosis (GSL)
Swiss-ProtVAR_063023Diseasep.LYS453GLUGalactosialidosis (GSL)
Swiss-ProtVAR_063021Diseasep.MET406THRGalactosialidosis (GSL)
Swiss-ProtVAR_001390Diseasep.PHE440VALGalactosialidosis (GSL)
Swiss-ProtVAR_001387Diseasep.SER90LEUGalactosialidosis (GSL)
Swiss-ProtVAR_063018Diseasep.SER51TYRGalactosialidosis (GSL)
Swiss-ProtVAR_001386Diseasep.TRP65ARGGalactosialidosis (GSL)
Swiss-ProtVAR_001388Diseasep.TYR249ASNGalactosialidosis (GSL)
Swiss-ProtVAR_001389Diseasep.TYR395CYSGalactosialidosis (GSL)
Swiss-ProtVAR_063019Diseasep.VAL132METGalactosialidosis (GSL)
OMIM613111.0003 Diseasep.GLN31ARGGALACTOSIALIDOSIS
OMIM613111.0011 Diseasep.GLY393SERGALACTOSIALIDOSIS, EARLY INFANTILE
OMIM613111.0010 Diseasep.LEU190PROGALACTOSIALIDOSIS, EARLY INFANTILE
OMIM613111.0014 Diseasep.LYS435GLUGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0012 Diseasep.MET360THRGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0001 Diseasep.PHE394VALGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0005 Diseasep.SER72LEUGALACTOSIALIDOSIS
OMIM613111.0004 Diseasep.TRP47ARGGALACTOSIALIDOSIS
OMIM613111.0008 Diseasep.TYR203ASNGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0007 Diseasep.TYR231ASNGALACTOSIALIDOSIS
OMIM613111.0006 Diseasep.TYR377CYSGALACTOSIALIDOSIS
OMIM613111.0009 Diseasep.VAL86METGALACTOSIALIDOSIS, EARLY INFANTILE



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