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Known Diseases associated with this Protein: | COENZYME Q10 DEFICIENCY, PRIMARY, 4
| COENZYME Q10 DEFICIENCY, PRIMARY, 4 (COQ10D4)
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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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ABC1 | pfam03109 | 6.8e-42 | 318 | 434 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_044402 | Disease | p.ARG213TRP | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | Swiss-Prot | VAR_044407 | Disease | p.GLU551LYS | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | Swiss-Prot | VAR_044403 | Disease | p.GLY272ASP | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | Swiss-Prot | VAR_044406 | Disease | p.GLY549SER | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | Swiss-Prot | VAR_044404 | Disease | p.GLY272VAL | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | dbSNP | rs2297411 | Polymorphism | p.HIS85GLN | N/A | dbSNP | rs76249490 | Polymorphism | p.HIS80TYR | N/A | Swiss-Prot | VAR_045576 | Polymorphism | p.ILE341THR | N/A | Swiss-Prot | VAR_044405 | Disease | p.TYR514CYS | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) | OMIM | 606980.0002 | Disease | p.ARG213TRP | COENZYME Q10 DEFICIENCY, PRIMARY, 4 | OMIM | 606980.0001 | Disease | p.GLU551LYS | COENZYME Q10 DEFICIENCY, PRIMARY, 4 | OMIM | 606980.0004 | Disease | p.GLY272ASP | COENZYME Q10 DEFICIENCY, PRIMARY, 4 | OMIM | 606980.0011 | Disease | p.GLY549SER | COENZYME Q10 DEFICIENCY, PRIMARY, 4 | OMIM | 606980.0003 | Disease | p.GLY272VAL | COENZYME Q10 DEFICIENCY, PRIMARY, 4 | OMIM | 606980.0008 | Disease | p.TYR514CYS | COENZYME Q10 DEFICIENCY, PRIMARY, 4 |
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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