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Known Diseases associated with this Protein: |  BARDET-BIEDL SYNDROME 7
| BARDET-BIEDL SYNDROME 7 (BBS7)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066459 | Polymorphism | p.GLN293PRO | N/A | | Swiss-Prot | VAR_066286 | Disease | p.GLY63ARG | Bardet-Biedl syndrome 7 (BBS7) | | Swiss-Prot | VAR_017213 | Disease | p.HIS323ARG | Bardet-Biedl syndrome 7 (BBS7) | | Swiss-Prot | VAR_038893 | Disease | p.ILE66PHE | Bardet-Biedl syndrome 7 (BBS7) | | Swiss-Prot | VAR_017212 | Disease | p.THR211ILE | Bardet-Biedl syndrome 7 (BBS7) | | Swiss-Prot | VAR_065555 | Polymorphism | p.TYR671CYS | N/A | | OMIM | 607590.0001 | Disease | p.HIS323ARG | BARDET-BIEDL SYNDROME 7 | | OMIM | 607590.0002 | Disease | p.THR211ILE | BARDET-BIEDL SYNDROME 7 |
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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90110978
BBS7_HUMAN RecName: Full=Bardet-Biedl syndrome 7 protein; AltName: Full=BBS2-like protein 1
6
2
2
0
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