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Results for the Protein: Q12794
74735617

HYAL1_HUMAN RecName: Full=Hyaluronidase-1; Short=Hyal-1; AltName: Full=Hyaluronoglucosaminidase-1; AltName: Full=Lung carcinoma protein 1; Short=LuCa-1; Flags: Precursor

Known Diseases associated with this Protein:
  MUCOPOLYSACCHARIDOSIS 9 (MPS9)
  MUCOPOLYSACCHARIDOSIS TYPE IX
2
2
1
2
1
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Glyco_hydro_56 - pfam01630


Swiss-Prot Protein: Q12794
Identical to: NP_695013, NP_149349
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023643Diseasep.GLU268LYSMucopolysaccharidosis 9 (MPS9)
dbSNPrs116482870 Polymorphismp.GLY256ARGN/A
dbSNPrs117179004 Polymorphismp.THR392METN/A
OMIM607071.0001 Diseasep.GLU268LYSMUCOPOLYSACCHARIDOSIS TYPE IX



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