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Known Diseases associated with this Protein: | BARDET-BIEDL SYNDROME 12
| BARDET-BIEDL SYNDROME 12 (BBS12)
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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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Swiss-Prot | VAR_034926 | Disease | p.ALA289PRO | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_034933 | Polymorphism | p.ALA615VAL | N/A | Swiss-Prot | VAR_066277 | Disease | p.ARG674CYS | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_066270 | Disease | p.ARG355GLN | Bardet-Biedl syndrome 12 (BBS12) | dbSNP | rs309370 | Polymorphism | p.ARG386GLN | N/A | Swiss-Prot | VAR_066275 | Disease | p.ARG525HIS | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_034931 | Polymorphism | p.ARG484LYS | N/A | dbSNP | rs10027479 | Polymorphism | p.ASN461HIS | N/A | dbSNP | rs17006082 | Polymorphism | p.ASN238LYS | N/A | dbSNP | rs13135778 | Polymorphism | p.ASP467ASN | N/A | Swiss-Prot | VAR_066269 | Disease | p.GLN293GLU | Bardet-Biedl syndrome 12 (BBS12) | dbSNP | rs309369 | Polymorphism | p.GLU126ASP | N/A | Swiss-Prot | VAR_066276 | Disease | p.GLY539ASP | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_066267 | Polymorphism | p.GLY119SER | N/A | Swiss-Prot | VAR_034932 | Disease | p.GLY540VAL | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_062964 | Disease | p.ILE346THR | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_034919 | Polymorphism | p.ILE39THR | N/A | Swiss-Prot | VAR_034923 | Polymorphism | p.ILE170VAL | N/A | Swiss-Prot | VAR_066266 | Disease | p.LEU88ARG | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_034924 | Polymorphism | p.LYS195ARG | N/A | Swiss-Prot | VAR_066272 | Polymorphism | p.LYS408ARG | N/A | Swiss-Prot | VAR_034922 | Disease | p.PRO159LEU | Bardet-Biedl syndrome 12 (BBS12) | dbSNP | rs28507107 | Polymorphism | p.SER616ASN | N/A | dbSNP | rs7665271 | Polymorphism | p.SER429THR | N/A | Swiss-Prot | VAR_062965 | Disease | p.THR501MET | Bardet-Biedl syndrome 12 (BBS12) | Swiss-Prot | VAR_066274 | Polymorphism | p.TYR524CYS | N/A | Swiss-Prot | VAR_066268 | Polymorphism | p.TYR263HIS | N/A | Swiss-Prot | VAR_066271 | Disease | p.VAL400MET | Bardet-Biedl syndrome 12 (BBS12) | OMIM | 610683.0004 | Disease | p.ALA289PRO | BARDET-BIEDL SYNDROME 12 | OMIM | 610683.0001 | Disease | p.ARG355TER | BARDET-BIEDL SYNDROME 12 |
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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