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Results for the Protein: Q14108
2498525
950

SCRB2_HUMAN RecName: Full=Lysosome membrane protein 2; AltName: Full=85 kDa lysosomal membrane sialoglycoprotein; Short=LGP85; AltName: Full=CD36 antigen-like 2; AltName: Full=Lysosome membrane protein II; Short=LIMP II; AltName: Full=Scavenger receptor class B member 2; AltName: CD_antigen=CD36

Known Diseases associated with this Protein:
  EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE
  EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE (EPM4)
  EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH RENAL FAILURE
3
2
2
1
2
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CD36 - pfam01130


Swiss-Prot Protein: Q14108
Identical to: NP_005497
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CD36pfam011303.1e-21410459

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066745Polymorphismp.GLU471GLYN/A
Swiss-ProtVAR_066744Diseasep.HIS363ASNEpilepsy, progressive myoclonic 4, with or without renal failure (EPM4)
dbSNPrs2228380 Polymorphismp.VAL396ILEN/A
OMIM602257.0003 Diseasep.GLN288TEREPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE
OMIM602257.0004 Diseasep.TRP178TEREPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH RENAL FAILURE



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