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Known Diseases associated with this Protein: |  PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs1801334 | Polymorphism | p.ASP245ASN | N/A | | dbSNP | rs1801582 | Polymorphism | p.VAL231LEU | N/A | | OMIM | 602544.0011 | Disease | p.ALA1GLU | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0017 | Disease | p.ARG126TRP | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0023 | Disease | p.CYS282PHE | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0012 | Disease | p.CYS63TYR | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0004 | Disease | p.GLN162TER | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0008 | Disease | p.LYS1ASN | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0018 | Disease | p.LYS62ASN | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0003 | Disease | p.THR91ARG | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0021 | Disease | p.THR91MET | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0007 | Disease | p.TRP304TER | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0013 | Disease | p.VAL56GLU | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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169790973
E3 ubiquitin-protein ligase parkin isoform 3 [Homo sapiens]
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