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Known Diseases associated with this Protein: | CONE DYSTROPHY RETINAL 3B (RCD3B)
| RETINAL CONE DYSTROPHY 3B
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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_027635 | Disease | p.ALA259VAL | Cone dystrophy retinal 3B (RCD3B) | Swiss-Prot | VAR_027637 | Disease | p.GLY459ASP | Cone dystrophy retinal 3B (RCD3B) | Swiss-Prot | VAR_027632 | Disease | p.LEU126GLN | Cone dystrophy retinal 3B (RCD3B) | dbSNP | rs12352254 | Polymorphism | p.LEU533VAL | N/A | Swiss-Prot | VAR_027634 | Disease | p.SER256TRP | Cone dystrophy retinal 3B (RCD3B) | Swiss-Prot | VAR_027633 | Disease | p.TRP188CYS | Cone dystrophy retinal 3B (RCD3B) | OMIM | 607604.0008 | Disease | p.GLN76TER | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0001 | Disease | p.GLU143TER | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0009 | Disease | p.GLU148TER | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0002 | Disease | p.GLU306TER | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0006 | Disease | p.GLY461ARG | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0003 | Disease | p.GLY459ASP | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0010 | Disease | p.PHE164SER | RETINAL CONE DYSTROPHY 3B | OMIM | 607604.0005 | Disease | p.SER256TRP | RETINAL CONE DYSTROPHY 3B |
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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