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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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| Swiss-Prot | VAR_014103 | Disease | p.GLY177ALA | Microcephaly, Amish type (MCPHA) | | Swiss-Prot | VAR_065125 | Disease | p.GLY125SER | Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) | | OMIM | 606521.0001 | Disease | p.GLY177ALA | MICROCEPHALY, AMISH TYPE | | OMIM | 606521.0002 | Disease | p.GLY125SER | THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION||AND PROGRESSIVE POLYNEUROPATHY 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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20137652
TPC_HUMAN RecName: Full=Mitochondrial thiamine pyrophosphate carrier; AltName: Full=Mitochondrial uncoupling protein 1; AltName: Full=Solute carrier family 25 member 19
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