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Known Diseases associated with this Protein: |  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
| PROSTATE CANCER, HEREDITARY, 2
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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 | rs4792311 | Polymorphism | p.SER217LEU | N/A | | OMIM | 605367.0002 | Disease | p.ALA540THR | PROSTATE CANCER, HEREDITARY, 2 | | OMIM | 605367.0004 | Disease | p.ARG780HIS | PROSTATE CANCER, HEREDITARY, 2 | | OMIM | 605367.0006 | Disease | p.ARG211TER | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 | | OMIM | 605367.0005 | Disease | p.GLU621VAL | PROSTATE CANCER, HEREDITARY, 2 | | OMIM | 605367.0009 | Disease | p.LEU422PHE | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 | | OMIM | 605367.0008 | Disease | p.PHE154LEU | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 | | OMIM | 605367.0001 | Disease | p.SER217LEU | PROSTATE CANCER, HEREDITARY, 2 | | OMIM | 605367.0007 | Disease | p.THR519ILE | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 |
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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260166622
zinc phosphodiesterase ELAC protein 2 isoform 2 [Homo sapiens]
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