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Known Diseases associated with this Protein: | COENZYME Q10 DEFICIENCY, PRIMARY, 6
| COENZYME Q10 DEFICIENCY, PRIMARY, 6 (COQ10D6)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_068218 | Disease | p.ALA353ASP | Coenzyme Q10 deficiency, primary, 6 (COQ10D6) | dbSNP | rs61743864 | Polymorphism | p.ALA93ASP | N/A | Swiss-Prot | VAR_052691 | Polymorphism | p.ASP300TYR | N/A | Swiss-Prot | VAR_033813 | Polymorphism | p.ASP339VAL | N/A | Swiss-Prot | VAR_068217 | Polymorphism | p.GLU287LYS | N/A | Swiss-Prot | VAR_068216 | Disease | p.GLY255ARG | Coenzyme Q10 deficiency, primary, 6 (COQ10D6) | Swiss-Prot | VAR_033814 | Polymorphism | p.THR395MET | N/A | Swiss-Prot | VAR_014953 | Polymorphism | p.VAL406MET | N/A | OMIM | 614647.0002 | Disease | p.ALA353ASP | COENZYME Q10 DEFICIENCY, PRIMARY, 6 | OMIM | 614647.0005 | Disease | p.ARG162TER | COENZYME Q10 DEFICIENCY, PRIMARY, 6 | OMIM | 614647.0001 | Disease | p.GLY255ARG | COENZYME Q10 DEFICIENCY, PRIMARY, 6 | OMIM | 614647.0006 | Disease | p.TRP188TER | COENZYME Q10 DEFICIENCY, PRIMARY, 6 | OMIM | 614647.0003 | Disease | p.TRP447TER | COENZYME Q10 DEFICIENCY, PRIMARY, 6 |
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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