|
|
|---|
 |
|
Known Diseases associated with this Protein: |  PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|  | 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. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs1801334 | Polymorphism | p.ASP366ASN | N/A | | dbSNP | rs1801474 | Polymorphism | p.SER167ASN | N/A | | dbSNP | rs1801582 | Polymorphism | p.VAL352LEU | N/A | | OMIM | 602544.0011 | Disease | p.ALA82GLU | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0017 | Disease | p.ARG247TRP | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0023 | Disease | p.CYS403PHE | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0012 | Disease | p.CYS184TYR | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0004 | Disease | p.GLN283TER | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0008 | Disease | p.LYS161ASN | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0018 | Disease | p.LYS183ASN | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0003 | Disease | p.THR212ARG | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0021 | Disease | p.THR212MET | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | | OMIM | 602544.0007 | Disease | p.TRP425TER | 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 |
|
169790971
E3 ubiquitin-protein ligase parkin isoform 2 [Homo sapiens]
11
3
11
3
0
