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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs1065436 | Polymorphism | p.PHE279VAL | N/A | Swiss-Prot | VAR_064053 | Disease | p.ARG330GLN | Colorblindness, partial, deutan series (CBD) | Swiss-Prot | VAR_064051 | Disease | p.ASN94LYS | Colorblindness, partial, deutan series (CBD) | Swiss-Prot | VAR_004841 | Disease | p.CYS203ARG | Colorblindness, partial, deutan series (CBD) | dbSNP | rs1065436 | Polymorphism | p.PHE279VAL | N/A | Swiss-Prot | VAR_064052 | Disease | p.TRP177ARG | Cone dystrophy 5 (COD5) | OMIM | 300821.0004 | Disease | p.ARG330GLN | COLORBLINDNESS, DEUTAN | OMIM | 300821.0003 | Disease | p.ASN94LYS | COLORBLINDNESS, DEUTAN | OMIM | 300821.0001 300821.0002 300822.0003 | Disease | p.CYS203ARG | BLUE CONE MONOCHROMACY | OMIM | 300821.0006 | Disease | p.TRP177ARG | CONE DYSTROPHY 5, X-LINKED |
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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