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Known Diseases associated with this Protein: | COENZYME Q10 DEFICIENCY, PRIMARY, 1 (COQ10D1)
| MULTIPLE SYSTEM ATROPHY 1 (MSA1)
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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_070250 | Disease | p.ARG337GLN | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_068162 | Disease | p.ARG147HIS | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) | Swiss-Prot | VAR_070242 | Polymorphism | p.ARG69HIS | N/A | Swiss-Prot | VAR_070249 | Polymorphism | p.ASN336HIS | N/A | Swiss-Prot | VAR_068163 | Disease | p.ASN178SER | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) | Swiss-Prot | VAR_070244 | Disease | p.ILE97THR | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070237 | Polymorphism | p.LEU16VAL | N/A | Swiss-Prot | VAR_070243 | Disease | p.MET78VAL | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070239 | Disease | p.PHE29LEU | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070240 | Disease | p.PRO49HIS | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070238 | Polymorphism | p.PRO22LEU | N/A | Swiss-Prot | VAR_070245 | Disease | p.PRO107SER | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_068161 | Disease | p.SER96ASN | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) | Swiss-Prot | VAR_070248 | Disease | p.SER297CYS | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070246 | Disease | p.SER113PHE | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070241 | Disease | p.SER57THR | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_070247 | Disease | p.THR267ALA | Multiple system atrophy 1 (MSA1) | Swiss-Prot | VAR_025701 | Disease | p.TYR247CYS | Coenzyme Q10 deficiency, primary, 1 (COQ10D1) | Swiss-Prot | VAR_070251 | Disease | p.VAL343ALA | Multiple system atrophy 1 (MSA1) |
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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