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Known Diseases associated with this Protein: |  HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF
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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 | rs17057255 | Polymorphism | p.ARG103CYS | N/A | | dbSNP | rs751141 | Polymorphism | p.ARG287GLN | N/A | | Swiss-Prot | VAR_055393 | Polymorphism | p.ARG52GLN | N/A | | Swiss-Prot | VAR_055394 | Polymorphism | p.CYS154TYR | N/A | | Swiss-Prot | VAR_055397 | Polymorphism | p.GLU470GLY | N/A | | Swiss-Prot | VAR_055392 | Polymorphism | p.GLY21ALA | N/A | | dbSNP | rs41507953 | Polymorphism | p.LYS55ARG | N/A | | Swiss-Prot | VAR_055396 | Polymorphism | p.MET369VAL | N/A | | Swiss-Prot | VAR_055395 | Polymorphism | p.PRO225LEU | N/A | | OMIM | 132811.0001 | Disease | p.ARG287GLN | HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF |
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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67476665
HYES_HUMAN RecName: Full=Bifunctional epoxide hydrolase 2; Includes: RecName: Full=Cytosolic epoxide hydrolase 2; Short=CEH; AltName: Full=Epoxide hydratase; AltName: Full=Soluble epoxide hydrolase; Short=SEH; Includes: RecName: Full=Lipid-phosphate phosphatase
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