Known Diseases associated with this Protein: |  COENZYME Q10 DEFICIENCY, PRIMARY, 2
| COENZYME Q10 DEFICIENCY, PRIMARY, 2 (COQ10D2)
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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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| Swiss-Prot | VAR_034879 | Disease | p.ASP308GLU | Coenzyme Q10 deficiency, primary, 2 (COQ10D2) | | OMIM | 607429.0001 | Disease | p.ASP308GLU | COENZYME Q10 DEFICIENCY, PRIMARY, 2 |
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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74744657
DPS1_HUMAN RecName: Full=Decaprenyl-diphosphate synthase subunit 1; AltName: Full=All-trans-decaprenyl-diphosphate synthase subunit 1; AltName: Full=Decaprenyl pyrophosphate synthase subunit 1; AltName: Full=Trans-prenyltransferase 1; Short=TPT 1
2
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1
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1
