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Known Diseases associated with this Protein: |  THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
| THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)
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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_010249 | Disease | p.ASP93HIS | Thiamine-responsive megaloblastic anemia syndrome (TRMA) | | Swiss-Prot | VAR_010248 | Disease | p.GLY172ASP | Thiamine-responsive megaloblastic anemia syndrome (TRMA) | | Swiss-Prot | VAR_010250 | Disease | p.SER143PHE | Thiamine-responsive megaloblastic anemia syndrome (TRMA) | | OMIM | 603941.0001 | Disease | p.ARG162TER | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | | OMIM | 603941.0010 | Disease | p.CYS152THR | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | | OMIM | 603941.0003 | Disease | p.GLY172ASP | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | | OMIM | 603941.0004 | Disease | p.TRP250TER | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | | OMIM | 603941.0009 | Disease | p.TRP358TER | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME |
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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12643426
S19A2_HUMAN RecName: Full=Thiamine transporter 1; Short=ThTr-1; Short=ThTr1; AltName: Full=Solute carrier family 19 member 2; AltName: Full=Thiamine carrier 1; Short=TC1
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