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Results for the Protein: O60260
116242725

PRKN2_HUMAN RecName: Full=E3 ubiquitin-protein ligase parkin; AltName: Full=Parkinson juvenile disease protein 2; Short=Parkinson disease protein 2

Known Diseases associated with this Protein:
  PARKINSON DISEASE (PARK)
  PARKINSON DISEASE 2 (PARK2)
  PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
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11
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1
40
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Default View:

BAG1_N - cd01812
Ubiquitin - cd01803
UBQ - smart00213
Rad60-SLD - pfam11976
Scythe_N - cd01809
Nedd8 - cd01806
hPLIC_N - cd01808
RAD23_N - cd01805
parkin_N - cd01798
UBQ - cd00196
UBL - cd01769
ubiquitin - pfam00240
IBR - pfam01485
IBR - smart00647


Swiss-Prot Protein: O60260
Identical to: NP_004553
   Default View:














Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ubiquitincd018031.3e-09177
RAD23_Ncd018059.6e-05174
Nedd8cd018062.6e-06177
hPLIC_Ncd018080.00019172
Scythe_Ncd018091e-05172
BAG1_Ncd018120.00023172
parkin_Ncd017985.5e-47372
UBQcd001961.1e-10472
UBLcd017692.7e-20472
ubiquitinpfam002403.9e-19674
IBRpfam014853.4e-14310377
IBRpfam014852.6e-06401457
Rad60-SLDpfam119761.7e-05171
UBQsmart002131.7e-12165
IBRsmart006473.8e-17313377

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019738Diseasep.ALA82GLUParkinson disease 2 (PARK2)
Swiss-ProtVAR_019737Diseasep.ALA46PROParkinson disease 2 (PARK2)
Swiss-ProtVAR_019758Polymorphismp.ALA339SERN/A
Swiss-ProtVAR_062673Polymorphismp.ALA371THRN/A
Swiss-ProtVAR_019739Diseasep.ALA92VALParkinson disease 2 (PARK2)
Swiss-ProtVAR_019750Diseasep.ARG256CYSParkinson disease (PARK)
Swiss-ProtVAR_019757Diseasep.ARG334CYSParkinson disease 2 (PARK2)
Swiss-ProtVAR_070079Diseasep.ARG402CYSParkinson disease 2 (PARK2)
Swiss-ProtVAR_019734Diseasep.ARG33GLNParkinson disease 2 (PARK2)
Swiss-ProtVAR_019736Diseasep.ARG42PROParkinson disease 2 (PARK2)
Swiss-ProtVAR_019751Polymorphismp.ARG271SERN/A
Swiss-ProtVAR_019752Diseasep.ARG275TRPParkinson disease (PARK)
Swiss-ProtVAR_019760Polymorphismp.ARG366TRPN/A
Swiss-ProtVAR_019753Diseasep.ASP280ASNParkinson disease (PARK)
Swiss-ProtVAR_019762Polymorphismp.ASP394ASNN/A
Swiss-ProtVAR_070080Diseasep.CYS418ARGParkinson disease 2 (PARK2)
Swiss-ProtVAR_019767Diseasep.CYS441ARGParkinson disease 2 (PARK2)
Swiss-ProtVAR_019755Diseasep.CYS289GLYParkinson disease 2 (PARK2)
Swiss-ProtVAR_019765Diseasep.CYS431PHEParkinson disease 2 (PARK2)
Swiss-ProtVAR_019746Diseasep.CYS212TYRParkinson disease 2 (PARK2)
Swiss-ProtVAR_019749Diseasep.CYS253TYRParkinson disease (PARK)
Swiss-ProtVAR_062672Polymorphismp.GLN311ARGN/A
Swiss-ProtVAR_019740Polymorphismp.GLN100HISN/A
Swiss-ProtVAR_019754Diseasep.GLY284ARGParkinson disease 2 (PARK2)
Swiss-ProtVAR_019764Diseasep.GLY430ASPParkinson disease 2 (PARK2)
Swiss-ProtVAR_019756Diseasep.GLY328GLUParkinson disease 2 (PARK2)
Swiss-ProtVAR_019745Diseasep.LYS211ARGParkinson disease 2 (PARK2)
Swiss-ProtVAR_019741Diseasep.LYS161ASNParkinson disease 2 (PARK2)
Swiss-ProtVAR_019744Diseasep.LYS211ASNParkinson disease 2 (PARK2)
Swiss-ProtVAR_054107Polymorphismp.MET192LEUN/A
Swiss-ProtVAR_019743Polymorphismp.MET192VALN/A
Swiss-ProtVAR_019735Diseasep.PRO37LEUParkinson disease 2 (PARK2)
Swiss-ProtVAR_019766Diseasep.PRO437LEUParkinson disease 2 (PARK2)
Swiss-ProtVAR_019742Polymorphismp.SER167ASNN/A
Swiss-ProtVAR_019748Diseasep.THR240ARGParkinson disease 2 (PARK2)
Swiss-ProtVAR_019763Diseasep.THR415ASNParkinson disease 2 (PARK2)
Swiss-ProtVAR_019747Diseasep.THR240METParkinson disease 2 (PARK2)
Swiss-ProtVAR_019759Diseasep.THR351PROParkinson disease 2 (PARK2)
Swiss-ProtVAR_070078Diseasep.VAL56GLUParkinson disease 2 (PARK2)
dbSNPrs1801582 Polymorphismp.VAL380LEUN/A
Swiss-ProtVAR_019733Diseasep.VAL15METParkinson disease 2 (PARK2)
OMIM602544.0011 Diseasep.ALA82GLUPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0017 Diseasep.ARG275TRPPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0023 Diseasep.CYS431PHEPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0012 Diseasep.CYS212TYRPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0004 Diseasep.GLN311TERPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0008 Diseasep.LYS161ASNPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0018 Diseasep.LYS211ASNPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0003 Diseasep.THR240ARGPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0021 Diseasep.THR240METPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0007 Diseasep.TRP453TERPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0013 Diseasep.VAL56GLUPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE



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