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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_061768 | Polymorphism | p.ALA17GLU | N/A | | Swiss-Prot | VAR_062978 | Disease | p.ARG181GLN | Mitchell-Riley syndrome (MIRIS) | | Swiss-Prot | VAR_037709 | Polymorphism | p.GLU6LYS | N/A | | Swiss-Prot | VAR_037711 | Polymorphism | p.SER743ASN | N/A | | Swiss-Prot | VAR_062979 | Disease | p.SER217PRO | Mitchell-Riley syndrome (MIRIS) | | Swiss-Prot | VAR_037710 | Polymorphism | p.THR688ALA | N/A | | OMIM | 612659.0005 | Disease | p.ARG181GLN | DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,||AND GALLBLADDER APLASIA OR HYPOPLASIA | | OMIM | 612659.0004 | Disease | p.SER217PRO | DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,||AND GALLBLADDER APLASIA OR HYPOPLASIA |
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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166225159
RFX6_HUMAN RecName: Full=DNA-binding protein RFX6; AltName: Full=Regulatory factor X 6; AltName: Full=Regulatory factor X domain-containing protein 1
4
4
2
0
6
