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Known Diseases associated with this Protein: |  RETINITIS PIGMENTOSA 49
| RETINITIS PIGMENTOSA 49 (RP49)
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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_009295 | Polymorphism | p.ARG32GLN | N/A | | Swiss-Prot | VAR_047385 | Polymorphism | p.ASN122ASP | N/A | | dbSNP | rs28642966 | Polymorphism | p.ASP118ASN | N/A | | Swiss-Prot | VAR_009297 | Disease | p.SER320PHE | Retinitis pigmentosa 49 (RP49) | | OMIM | 123825.0001 | Disease | p.GLU7TER | RETINITIS PIGMENTOSA 49 | | OMIM | 123825.0002 | Disease | p.LYS70TER | RETINITIS PIGMENTOSA 49 | | OMIM | 123825.0003 | Disease | p.SER247PHE | RETINITIS PIGMENTOSA 49 |
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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239938910
CNGA1_HUMAN RecName: Full=cGMP-gated cation channel alpha-1; AltName: Full=Cyclic nucleotide-gated cation channel 1; AltName: Full=Cyclic nucleotide-gated channel alpha-1; Short=CNG channel alpha-1; Short=CNG-1; Short=CNG1; AltName: Full=Cyclic nucleotide-gated channel, photoreceptor; AltName: Full=Rod photoreceptor cGMP-gated channel subunit alpha
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