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Known Diseases associated with this Protein: |  JOUBERT SYNDROME 16
| JOUBERT SYNDROME 16 (JBTS16)
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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_067060 | Disease | p.ALA126THR | Joubert syndrome 16 (JBTS16) | | Swiss-Prot | VAR_067061 | Disease | p.ALA127VAL | Joubert syndrome 16 (JBTS16) | | Swiss-Prot | VAR_067059 | Disease | p.HIS96ARG | Joubert syndrome 16 (JBTS16) | | Swiss-Prot | VAR_067062 | Disease | p.TYR130CYS | Joubert syndrome 16 (JBTS16) | | OMIM | 614459.0004 | Disease | p.ALA126THR | JOUBERT SYNDROME 16 | | OMIM | 614459.0003 | Disease | p.ALA127VAL | JOUBERT SYNDROME 16 | | OMIM | 614459.0002 | Disease | p.HIS96ARG | JOUBERT SYNDROME 16 | | OMIM | 614459.0005 | Disease | p.TYR130CYS | JOUBERT SYNDROME 16 |
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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74734306
TM138_HUMAN RecName: Full=Transmembrane protein 138
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