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Results for the Protein: NP_054642
169790971

E3 ubiquitin-protein ligase parkin isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
11
3
11
3
0
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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


RefSeq Protein: NP_054642
   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-14282349
IBRpfam014852.6e-06373429
Rad60-SLDpfam119761.7e-05171
UBQsmart002131.7e-12165
IBRsmart006473.8e-17285349

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1801334 Polymorphismp.ASP366ASNN/A
dbSNPrs1801474 Polymorphismp.SER167ASNN/A
dbSNPrs1801582 Polymorphismp.VAL352LEUN/A
OMIM602544.0011 Diseasep.ALA82GLUPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0017 Diseasep.ARG247TRPPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0023 Diseasep.CYS403PHEPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0012 Diseasep.CYS184TYRPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0004 Diseasep.GLN283TERPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0008 Diseasep.LYS161ASNPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0018 Diseasep.LYS183ASNPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0003 Diseasep.THR212ARGPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0021 Diseasep.THR212METPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0007 Diseasep.TRP425TERPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0013 Diseasep.VAL56GLUPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE



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