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Known Diseases associated with this Protein: |  COENZYME Q10 DEFICIENCY, PRIMARY, 1
| MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
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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 | rs6818847 | Polymorphism | p.VAL66LEU | N/A | | OMIM | 609825.0009 | Disease | p.ARG337GLN | MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO | | OMIM | 609825.0003 | Disease | p.ARG197HIS | COENZYME Q10 DEFICIENCY, PRIMARY, 1 | | OMIM | 609825.0008 | Disease | p.ARG337TER | MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO | | OMIM | 609825.0004 | Disease | p.ASN228SER | COENZYME Q10 DEFICIENCY, PRIMARY, 1 | | OMIM | 609825.0006 | Disease | p.MET78VAL | MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO | | OMIM | 609825.0005 | Disease | p.SER146ASN | COENZYME Q10 DEFICIENCY, PRIMARY, 1 | | OMIM | 609825.0001 | Disease | p.TYR297CYS | COENZYME Q10 DEFICIENCY, PRIMARY, 1 | | OMIM | 609825.0007 | Disease | p.VAL343ALA | MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO |
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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260656052
4-hydroxybenzoate polyprenyltransferase, mitochondrial [Homo sapiens]
8
1
8
1
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