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Known Diseases associated with this Protein: | BARDET-BIEDL SYNDROME 3 (BBS3)
| RETINITIS PIGMENTOSA 55 (RP55)
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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_064184 | Disease | p.ALA89VAL | Retinitis pigmentosa 55 (RP55) | Swiss-Prot | VAR_027645 | Disease | p.GLY169ALA | Bardet-Biedl syndrome 3 (BBS3) | Swiss-Prot | VAR_027646 | Disease | p.LEU170TRP | Bardet-Biedl syndrome 3 (BBS3) | Swiss-Prot | VAR_027644 | Disease | p.THR31ARG | Bardet-Biedl syndrome 3 (BBS3) | Swiss-Prot | VAR_027643 | Disease | p.THR31MET | Bardet-Biedl syndrome 3 (BBS3) |
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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