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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs1427463 | Polymorphism | p.ALA169THR | N/A | | Swiss-Prot | VAR_032029 | Polymorphism | p.GLY416ALA | N/A | | Swiss-Prot | VAR_029364 | Disease | p.GLY451GLU | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) | | OMIM | 604983.0004 | Disease | p.ARG369GLY | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 4 | | OMIM | 604983.0001 | Disease | p.GLY451GLU | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 4 | | OMIM | 604983.0003 | Disease | p.PRO205ARG | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 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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17367139
DPOG2_HUMAN RecName: Full=DNA polymerase subunit gamma-2, mitochondrial; AltName: Full=DNA polymerase gamma accessory 55 kDa subunit; Short=p55; AltName: Full=Mitochondrial DNA polymerase accessory subunit; AltName: Full=MtPolB; AltName: Full=PolG-beta; Flags: Precursor
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