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Known Diseases associated with this Protein: |  MYOPATHY WITH LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA 1 (MLASA1)
| MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
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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_021788 | Disease | p.ARG144TRP | Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) | | dbSNP | rs76655496 | Polymorphism | p.ASP133ASN | N/A | | OMIM | 608109.0001 | Disease | p.ARG116TRP | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 | | OMIM | 608109.0002 | Disease | p.GLU220TER | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 |
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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114152895
TRUA_HUMAN RecName: Full=tRNA pseudouridine synthase A, mitochondrial; AltName: Full=tRNA pseudouridine(38-40) synthase; AltName: Full=tRNA pseudouridylate synthase I; AltName: Full=tRNA-uridine isomerase I; Flags: Precursor
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