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Known Diseases associated with this Protein: |  MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
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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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| OMIM | 131222.0009 | Disease | p.ARG44GLN | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0013 | Disease | p.ARG202THR | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0001 | Disease | p.GLU289ALA | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0003 | Disease | p.GLY145ARG | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0012 | Disease | p.GLY311ARG | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0008 | Disease | p.GLY153SER | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0014 | Disease | p.LEU285PRO | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0004 | Disease | p.LYS222SER | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | | OMIM | 131222.0011 | Disease | p.VAL208MET | MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) |
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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384229049
thymidine phosphorylase isoform 1 proprotein [Homo sapiens]
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