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Known Diseases associated with this Protein: |  TREACHER COLLINS SYNDROME 3
| TREACHER COLLINS SYNDROME 3 (TCS3)
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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_064899 | Disease | p.ARG279GLN | Treacher Collins syndrome 3 (TCS3) | | Swiss-Prot | VAR_064900 | Disease | p.ARG279TRP | Treacher Collins syndrome 3 (TCS3) | | dbSNP | rs79222964 | Polymorphism | p.MET212VAL | N/A | | OMIM | 610060.0001 | Disease | p.ARG279GLN | TREACHER COLLINS SYNDROME 3 | | OMIM | 610060.0005 | Disease | p.ARG279TRP | TREACHER COLLINS SYNDROME 3 | | OMIM | 610060.0003 | Disease | p.LYS327TER | TREACHER COLLINS 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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3914807
RPAC1_HUMAN RecName: Full=DNA-directed RNA polymerases I and III subunit RPAC1; Short=DNA-directed RNA polymerase I subunit C; Short=RNA polymerases I and III subunit AC1; AltName: Full=AC40; AltName: Full=DNA-directed RNA polymerases I and III 40 kDa polypeptide; Short=RPA40; AltName: Full=RPA39; AltName: Full=RPC40
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