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Results for the Protein: P61764
50403646

STXB1_HUMAN RecName: Full=Syntaxin-binding protein 1; AltName: Full=MUNC18-1; AltName: Full=N-Sec1; AltName: Full=Protein unc-18 homolog 1; Short=Unc18-1; AltName: Full=Protein unc-18 homolog A; Short=Unc-18A; AltName: Full=p67

Known Diseases associated with this Protein:
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (EIEE4)
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4
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Swiss-Prot Protein: P61764
Identical to: NP_001027392
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046206Diseasep.CYS180TYREpileptic encephalopathy, early infantile, 4 (EIEE4)
Swiss-ProtVAR_046208Diseasep.GLY544ASPEpileptic encephalopathy, early infantile, 4 (EIEE4)
Swiss-ProtVAR_046207Diseasep.MET443ARGEpileptic encephalopathy, early infantile, 4 (EIEE4)
Swiss-ProtVAR_046205Diseasep.VAL84ASPEpileptic encephalopathy, early infantile, 4 (EIEE4)
OMIM602926.0005 Diseasep.ARG388TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
OMIM602926.0002 Diseasep.CYS180TYREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
OMIM602926.0001 Diseasep.GLY544ASPEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
OMIM602926.0003 Diseasep.MET443ARGEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
OMIM602926.0004 Diseasep.VAL84ASPEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4



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