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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_015678 | Disease | p.ILE93MET | Parkinson disease 5 (PARK5) | | Swiss-Prot | VAR_015677 | Polymorphism | p.SER18TYR | N/A | | OMIM | 191342.0003 | Disease | p.GLU7ALA | NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET (1 family) | | OMIM | 191342.0001 | Disease | p.ILE93MET | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT (1 family) | | OMIM | 191342.0002 | Disease | p.SER18TYR | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
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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136681
UCHL1_HUMAN RecName: Full=Ubiquitin carboxyl-terminal hydrolase isozyme L1; Short=UCH-L1; AltName: Full=Neuron cytoplasmic protein 9.5; AltName: Full=PGP 9.5; Short=PGP9.5; AltName: Full=Ubiquitin thioesterase L1; Flags: Precursor
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