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Known Diseases associated with this Protein: |  RETINITIS PIGMENTOSA 17
| RETINITIS PIGMENTOSA 17 (RP17)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_024750 | Disease | p.ARG219SER | Retinitis pigmentosa 17 (RP17) | | Swiss-Prot | VAR_024749 | Disease | p.ARG14TRP | Retinitis pigmentosa 17 (RP17) | | Swiss-Prot | VAR_048680 | Polymorphism | p.VAL237LEU | N/A | | OMIM | 114760.0003 | Disease | p.ARG69HIS | RETINITIS PIGMENTOSA 17 | | OMIM | 114760.0002 | Disease | p.ARG219SER | RETINITIS PIGMENTOSA 17 | | OMIM | 114760.0001 | Disease | p.ARG14TRP | RETINITIS PIGMENTOSA 17 |
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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115465
CAH4_HUMAN RecName: Full=Carbonic anhydrase 4; AltName: Full=Carbonate dehydratase IV; AltName: Full=Carbonic anhydrase IV; Short=CA-IV; Flags: Precursor
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