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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_064028 | Disease | p.ARG73CYS | Joubert syndrome 2 (JBTS2) | | Swiss-Prot | VAR_064029 | Disease | p.ARG73HIS | Meckel syndrome 2 (MKS2) | | Swiss-Prot | VAR_063388 | Disease | p.ARG73LEU | Joubert syndrome 2 (JBTS2) | | Swiss-Prot | VAR_064030 | Disease | p.GLY77ALA | Meckel syndrome 2 (MKS2) | | Swiss-Prot | VAR_064031 | Disease | p.LEU114ARG | Meckel syndrome 2 (MKS2) | | Swiss-Prot | VAR_068170 | Disease | p.LEU89PHE | Joubert syndrome 2 (JBTS2) | | OMIM | 613277.0002 | Disease | p.ARG73HIS | JOUBERT SYNDROME 2||MECKEL SYNDROME, TYPE 2, INCLUDED | | OMIM | 613277.0001 | Disease | p.ARG73LEU | JOUBERT SYNDROME 2 | | OMIM | 613277.0004 | Disease | p.GLY77ALA | MECKEL SYNDROME, TYPE 2 | | OMIM | 613277.0003 | Disease | p.LEU114ARG | MECKEL SYNDROME, TYPE 2 |
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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380865448
TM216_HUMAN RecName: Full=Transmembrane protein 216
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