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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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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_067058 | Polymorphism | p.ARG360CYS | N/A | | Swiss-Prot | VAR_067055 | Polymorphism | p.ARG179HIS | N/A | | Swiss-Prot | VAR_067057 | Polymorphism | p.CYS240GLY | N/A | | Swiss-Prot | VAR_067054 | Polymorphism | p.GLN89GLU | N/A | | Swiss-Prot | VAR_067053 | Polymorphism | p.MET36THR | N/A | | Swiss-Prot | VAR_067056 | Polymorphism | p.PRO206ALA | N/A | | OMIM | 610523.0006 | Disease | p.ARG360CYS | JOUBERT SYNDROME 9/15, DIGENIC | | OMIM | 610523.0004 | Disease | p.ARG179HIS | JOUBERT SYNDROME 12/15, DIGENIC | | OMIM | 610523.0005 | Disease | p.MET36THR | JOUBERT SYNDROME 9/15, DIGENIC | | OMIM | 610523.0007 | Disease | p.SER28TER | JOUBERT SYNDROME 15 |
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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56748870
CEP41_HUMAN RecName: Full=Centrosomal protein of 41 kDa; Short=Cep41; AltName: Full=Testis-specific gene A14 protein
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