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Known Diseases associated with this Protein: | BARDET-BIEDL SYNDROME 4
| BARDET-BIEDL SYNDROME 4 (BBS4)
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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_017051 | Disease | p.ALA364GLU | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_028723 | Polymorphism | p.ALA393VAL | N/A | Swiss-Prot | VAR_013170 | Disease | p.ARG295PRO | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_017049 | Disease | p.ASN165HIS | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_038896 | Disease | p.ASP368GLY | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_066288 | Polymorphism | p.GLU412ASP | N/A | Swiss-Prot | VAR_028722 | Polymorphism | p.GLU268LYS | N/A | Swiss-Prot | VAR_066287 | Polymorphism | p.GLU61LYS | N/A | dbSNP | rs2277598 | Polymorphism | p.ILE354THR | N/A | Swiss-Prot | VAR_038895 | Disease | p.LEU351ARG | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_017050 | Disease | p.LEU327PRO | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_038894 | Polymorphism | p.LYS46ARG | N/A | Swiss-Prot | VAR_017053 | Disease | p.MET472VAL | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_038897 | Disease | p.PRO503LEU | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_017052 | Disease | p.SER457ILE | Bardet-Biedl syndrome 4 (BBS4) | Swiss-Prot | VAR_066289 | Polymorphism | p.THR488LYS | N/A | OMIM | 600374.0004 | Disease | p.ALA364GLU | BARDET-BIEDL SYNDROME 4 | OMIM | 600374.0001 | Disease | p.ARG295PRO | BARDET-BIEDL SYNDROME 4 |
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.
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21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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