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Results for the Protein: O95278
50400258

EPM2A_HUMAN RecName: Full=Laforin; AltName: Full=Lafora PTPase; Short=LAFPTPase

Known Diseases associated with this Protein:
  EPILEPSY, PROGRESSIVE MYOCLONIC 2 (EPM2)
  EPILEPSY, PROGRESSIVE MYOCLONIC 2A
27
2
8
0
21
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Default View:

CBM20_laforin - cd05806
CBM20 - cd05467
CBM_20 - pfam00686
DSPc - cd00127
DSPc - smart00195
DSPc - pfam00782


Swiss-Prot Protein: O95278
Identical to: NP_005661
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CBM20cd054679.4e-302120
DSPccd001273e-06156314
CBM_20pfam006865.4e-0512116
DSPcpfam007827.5e-05164319
DSPcsmart001957.1e-06157320

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019468Polymorphismp.ALA46PRON/A
Swiss-ProtVAR_019472Diseasep.ARG108CYSEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019474Diseasep.ARG171HISEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019471Diseasep.ARG91PROEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_046384Diseasep.ASN148TYREpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019479Diseasep.GLN293LEUEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019473Polymorphismp.GLU114ASPN/A
Swiss-ProtVAR_046385Diseasep.GLU210LYSEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019466Diseasep.GLU28LYSEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019477Diseasep.GLY240SEREpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019478Diseasep.GLY279SEREpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_046386Diseasep.LEU310TRPEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_046383Diseasep.LYS140ASNEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019469Diseasep.PHE84LEUEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019470Diseasep.PHE88LEUEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019481Diseasep.PRO301LEUEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019465Diseasep.SER25PROEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019475Diseasep.THR187ALAEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019476Diseasep.THR194ILEEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019467Diseasep.TRP32GLYEpilepsy, progressive myoclonic 2 (EPM2)
Swiss-ProtVAR_019480Diseasep.TYR294ASNEpilepsy, progressive myoclonic 2 (EPM2)
OMIM607566.0003 Diseasep.ARG45CYSEPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0005 Diseasep.ARG90HISEPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0006 Diseasep.ARG160TEREPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0001 Diseasep.ARG168TEREPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0008 Diseasep.ARG241TEREPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0007 Diseasep.GLY198SEREPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0002 Diseasep.GLY216SEREPILEPSY, PROGRESSIVE MYOCLONIC 2A
OMIM607566.0010 Diseasep.TRP32GLYEPILEPSY, PROGRESSIVE MYOCLONIC 2A



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