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Results for the Protein: NP_000299
119395729

lysosomal protective protein isoform a precursor [Homo sapiens]

Known Diseases associated with this Protein:
  GALACTOSIALIDOSIS
  GALACTOSIALIDOSIS, EARLY INFANTILE
  GALACTOSIALIDOSIS, LATE INFANTILE
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Default View:

COG2939 - COG2939
Peptidase_S10 - pfam00450


RefSeq Protein: NP_000299
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_S10pfam004502.6e-20157495

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM613111.0003 Diseasep.GLN49ARGGALACTOSIALIDOSIS
OMIM613111.0011 Diseasep.GLY411SERGALACTOSIALIDOSIS, EARLY INFANTILE
OMIM613111.0010 Diseasep.LEU208PROGALACTOSIALIDOSIS, EARLY INFANTILE
OMIM613111.0014 Diseasep.LYS453GLUGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0012 Diseasep.MET378THRGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0001 Diseasep.PHE412VALGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0005 Diseasep.SER90LEUGALACTOSIALIDOSIS
OMIM613111.0004 Diseasep.TRP65ARGGALACTOSIALIDOSIS
OMIM613111.0008 Diseasep.TYR221ASNGALACTOSIALIDOSIS, LATE INFANTILE
OMIM613111.0007 Diseasep.TYR249ASNGALACTOSIALIDOSIS
OMIM613111.0006 Diseasep.TYR395CYSGALACTOSIALIDOSIS
OMIM613111.0009 Diseasep.VAL104METGALACTOSIALIDOSIS, EARLY INFANTILE



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