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Results for the Protein: NP_054643
169790973

E3 ubiquitin-protein ligase parkin isoform 3 [Homo sapiens]

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

UBQ - smart00213
Ubiquitin - cd01803
Scythe_N - cd01809
Nedd8 - cd01806
parkin_N - cd01798
UBL - cd01769
UBQ - cd00196
ubiquitin - pfam00240
IBR - pfam01485
IBR - smart00647


RefSeq Protein: NP_054643
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ubiquitincd018030.00025184
Nedd8cd018060.00022186
Scythe_Ncd018090.00062182
parkin_Ncd017989.7e-50382
UBQcd001960.0001479
UBLcd017694.4e-17482
ubiquitinpfam002402.7e-09682
IBRpfam014853.4e-14161228
IBRpfam014852.6e-06252308
UBQsmart002134.3e-10165
IBRsmart006473.8e-17164228

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1801334 Polymorphismp.ASP245ASNN/A
dbSNPrs1801582 Polymorphismp.VAL231LEUN/A
OMIM602544.0011 Diseasep.ALA1GLUPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0017 Diseasep.ARG126TRPPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0023 Diseasep.CYS282PHEPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0012 Diseasep.CYS63TYRPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0004 Diseasep.GLN162TERPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0008 Diseasep.LYS1ASNPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0018 Diseasep.LYS62ASNPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0003 Diseasep.THR91ARGPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0021 Diseasep.THR91METPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0007 Diseasep.TRP304TERPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
OMIM602544.0013 Diseasep.VAL56GLUPARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE



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