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Known Diseases associated with this Protein: |  AICARDI-GOUTIERES SYNDROME 3
| AICARDI-GOUTIERES SYNDROME 3 (AGS3)
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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_027287 | Disease | p.ARG69TRP | Aicardi-Goutieres syndrome 3 (AGS3) | | Swiss-Prot | VAR_027288 | Disease | p.LYS143ILE | Aicardi-Goutieres syndrome 3 (AGS3) | | OMIM | 610330.0001 | Disease | p.ARG69TRP | AICARDI-GOUTIERES SYNDROME 3 | | OMIM | 610330.0002 | Disease | p.LYS143ILE | AICARDI-GOUTIERES SYNDROME 3 |
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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74730607
RNH2C_HUMAN RecName: Full=Ribonuclease H2 subunit C; Short=RNase H2 subunit C; AltName: Full=Aicardi-Goutieres syndrome 3 protein; Short=AGS3; AltName: Full=RNase H1 small subunit; AltName: Full=Ribonuclease HI subunit C
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