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Known Diseases associated with this Protein: | BLUE CONE MONOCHROMACY (BCM)
| COLORBLINDNESS, PARTIAL, PROTAN SERIES (CBP)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_012015 | Polymorphism | p.ALA298PRO | N/A | Swiss-Prot | VAR_012013 | Polymorphism | p.ALA174VAL | N/A | Swiss-Prot | VAR_009298 | Disease | p.CYS203ARG | Blue cone monochromacy (BCM) | Swiss-Prot | VAR_064054 | Disease | p.GLY338GLU | Colorblindness, partial, protan series (CBP) | Swiss-Prot | VAR_012014 | Polymorphism | p.ILE230THR | N/A | Swiss-Prot | VAR_012010 | Polymorphism | p.ILE111VAL | N/A | Swiss-Prot | VAR_050612 | Polymorphism | p.ILE274VAL | N/A | Swiss-Prot | VAR_012012 | Polymorphism | p.LEU153MET | N/A | Swiss-Prot | VAR_009299 | Disease | p.PRO307LEU | Blue cone monochromacy (BCM) | Swiss-Prot | VAR_004842 | Polymorphism | p.SER180ALA | N/A | Swiss-Prot | VAR_012011 | Polymorphism | p.SER116TYR | N/A | Swiss-Prot | VAR_012009 | Polymorphism | p.THR65ILE | N/A | Swiss-Prot | VAR_012016 | Polymorphism | p.TYR309PHE | N/A |
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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