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Known Diseases associated with this Protein: |  RETINITIS PIGMENTOSA 11
| RETINITIS PIGMENTOSA 11 (RP11)
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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_025630 | Disease | p.ALA194GLU | Retinitis pigmentosa 11 (RP11) | | Swiss-Prot | VAR_025631 | Disease | p.ALA216PRO | Retinitis pigmentosa 11 (RP11) | | OMIM | 606419.0005 | Disease | p.ALA194GLU | RETINITIS PIGMENTOSA 11 | | OMIM | 606419.0002 | Disease | p.ALA216PRO | RETINITIS PIGMENTOSA 11 |
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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90101442
PRP31_HUMAN RecName: Full=U4/U6 small nuclear ribonucleoprotein Prp31; AltName: Full=Pre-mRNA-processing factor 31; AltName: Full=Serologically defined breast cancer antigen NY-BR-99; AltName: Full=U4/U6 snRNP 61 kDa protein; Short=Protein 61K; Short=hPrp31
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