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Known Diseases associated with this Protein: |  HYPERURICEMIA PULMONARY HYPERTENSION RENAL FAILURE AND ALKALOSIS (HUPRA)
| HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS
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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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| Swiss-Prot | VAR_065820 | Disease | p.ASP390GLY | Hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) | | Swiss-Prot | VAR_052646 | Polymorphism | p.SER83LEU | N/A | | dbSNP | rs34264048 | Polymorphism | p.THR35ALA | N/A | | OMIM | 612804.0001 | Disease | p.ASP388GLY | HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS |
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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23822219
SYSM_HUMAN RecName: Full=Serine--tRNA ligase, mitochondrial; AltName: Full=SerRSmt; AltName: Full=Seryl-tRNA synthetase; Short=SerRS; AltName: Full=Seryl-tRNA(Ser/Sec) synthetase; Flags: Precursor
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