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Results for the Protein: Q7Z3G6
85701877

PRIC2_HUMAN RecName: Full=Prickle-like protein 2; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, PROGRESSIVE MYOCLONIC 5
  EPILEPSY, PROGRESSIVE MYOCLONIC 5 (EPM5)
6
0
3
0
3
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Default View:

PET - pfam06297
LIM - smart00132
LIM - pfam00412


Swiss-Prot Protein: Q7Z3G6
Identical to: NP_942559
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LIMpfam004122.4e-13130191
LIMpfam004126.8e-14195251
LIMpfam004120.00094258315
PETpfam062971.9e-6917122
LIMsmart001324.4e-06129171
LIMsmart001321.6e-11194231
LIMsmart001326.2e-07254294

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065582Diseasep.ARG148HISEpilepsy, progressive myoclonic 5 (EPM5)
Swiss-ProtVAR_065583Diseasep.VAL153ILEEpilepsy, progressive myoclonic 5 (EPM5)
Swiss-ProtVAR_065584Diseasep.VAL605PHEEpilepsy, progressive myoclonic 5 (EPM5)
OMIM608501.0001 Diseasep.ARG148HISEPILEPSY, PROGRESSIVE MYOCLONIC 5
OMIM608501.0001 Diseasep.VAL153ILEEPILEPSY, PROGRESSIVE MYOCLONIC 5
OMIM608501.0002 Diseasep.VAL605PHEEPILEPSY, PROGRESSIVE MYOCLONIC 5



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