|  | 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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| dbSNP | rs16952624 | Polymorphism | p.ALA405VAL | N/A | | Swiss-Prot | VAR_063252 | Disease | p.ARG316GLN | Growth retardation developmental delay coarse facies early death (GDFD) | | OMIM | 610966.0001 | Disease | p.ARG316GLN | GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY||DEATH |
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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148841515
FTO_HUMAN RecName: Full=Alpha-ketoglutarate-dependent dioxygenase FTO; AltName: Full=Fat mass and obesity-associated protein
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