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Known Diseases associated with this Protein: | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
| CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 (FECD6)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063763 | Disease | p.ALA905THR | Corneal dystrophy, Fuchs endothelial, 6 (FECD6) | dbSNP | rs80194531 | Disease | p.ASN78THR | Corneal dystrophy, Fuchs endothelial, 6 (FECD6) | Swiss-Prot | VAR_063761 | Disease | p.GLN810PRO | Corneal dystrophy, Fuchs endothelial, 6 (FECD6) | Swiss-Prot | VAR_063762 | Disease | p.GLN840PRO | Corneal dystrophy, Fuchs endothelial, 6 (FECD6) | Swiss-Prot | VAR_052731 | Polymorphism | p.GLY90ARG | N/A | dbSNP | rs35753967 | Polymorphism | p.LYS553ARG | N/A | Swiss-Prot | VAR_063760 | Disease | p.PRO649ALA | Corneal dystrophy, Fuchs endothelial, 6 (FECD6) | OMIM | 189909.0003 | Disease | p.ASN78THR | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 | OMIM | 189909.0004 | Disease | p.GLN839PRO | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 |
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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