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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_038883 | Disease | p.ARG160GLN | Bardet-Biedl syndrome 1 (BBS1) | dbSNP | rs77298332 | Polymorphism | p.ARG450GLN | N/A | Swiss-Prot | VAR_038882 | Disease | p.ASP148ASN | Bardet-Biedl syndrome 1 (BBS1) | dbSNP | rs35520756 | Disease | p.GLU234LYS | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_065554 | Polymorphism | p.GLY559ASP | N/A | Swiss-Prot | VAR_038884 | Disease | p.GLY305SER | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_038880 | Disease | p.HIS35ARG | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_066278 | Disease | p.ILE330THR | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_038888 | Disease | p.LEU518GLN | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_038887 | Disease | p.LEU503HIS | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_017217 | Disease | p.LEU518PRO | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_066485 | Polymorphism | p.LEU206VAL | N/A | Swiss-Prot | VAR_038881 | Disease | p.LYS53GLU | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_017216 | Disease | p.MET390ARG | Bardet-Biedl syndrome 1 (BBS1) | Swiss-Prot | VAR_066486 | Polymorphism | p.PRO245LEU | N/A | Swiss-Prot | VAR_038886 | Disease | p.TYR434SER | Bardet-Biedl syndrome 1 (BBS1) | OMIM | 209901.0006 | Disease | p.GLU234LYS | BARDET-BIEDL SYNDROME 7 | OMIM | 209901.0002 | Disease | p.GLU549TER | BARDET-BIEDL SYNDROME 1 | OMIM | 209901.0005 | Disease | p.LEU518PRO | BARDET-BIEDL SYNDROME 1 | OMIM | 209901.0001 | Disease | p.MET390ARG | BARDET-BIEDL SYNDROME 1 |
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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