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Results for the Protein: P04080
1706278

CYTB_HUMAN RecName: Full=Cystatin-B; AltName: Full=CPI-B; AltName: Full=Liver thiol proteinase inhibitor; AltName: Full=Stefin-B

Known Diseases associated with this Protein:
  EPILEPSY, PROGRESSIVE MYOCLONIC 1 (EPM1)
  MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
  MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
4
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3
0
1
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CY - smart00043


Swiss-Prot Protein: P04080
Identical to: NP_000091
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CYsmart000439.3e-20198

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002206Diseasep.GLY4ARGEpilepsy, progressive myoclonic 1 (EPM1)
OMIM601145.0002 Diseasep.ARG68TERMYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
OMIM601145.0006 Diseasep.GLN71PROMYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
OMIM601145.0004 Diseasep.GLY4ARGMYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG



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