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Known Diseases associated with this Protein: |  CEROID LIPOFUSCINOSIS, NEURONAL, 1
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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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| dbSNP | rs72937434 | Polymorphism | p.GLN176HIS | N/A | | OMIM | 600722.0006 | Disease | p.ARG48TER | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0001 | Disease | p.ARG1TRP | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0003 | Disease | p.ASP1GLY | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0010 | Disease | p.CYS1TYR | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0009 | Disease | p.GLY1ARG | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0004 | Disease | p.LEU116GLN | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0005 | Disease | p.LEU10TER | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | | OMIM | 600722.0002 | Disease | p.THR1PRO | CEROID LIPOFUSCINOSIS, NEURONAL, 1 |
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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217272890
palmitoyl-protein thioesterase 1 isoform 2 precursor [Homo sapiens]
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1
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