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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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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_062584 | Disease | p.ARG90LEU | Anterior segment mesenchymal dysgenesis (ASMD) | | Swiss-Prot | VAR_026234 | Polymorphism | p.GLY196ALA | N/A | | Swiss-Prot | VAR_062582 | Polymorphism | p.GLY49ALA | N/A | | Swiss-Prot | VAR_062583 | Polymorphism | p.MET82VAL | N/A | | Swiss-Prot | VAR_026235 | Polymorphism | p.SER300GLY | N/A | | OMIM | 601094.0002 | Disease | p.CYS240TER | APHAKIA, CONGENITAL PRIMARY | | OMIM | 601094.0003 | Disease | p.TER320LEU | ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS |
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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12644406
FOXE3_HUMAN RecName: Full=Forkhead box protein E3; AltName: Full=Forkhead-related protein FKHL12; AltName: Full=Forkhead-related transcription factor 8; Short=FREAC-8
3
4
2
0
5
