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Known Diseases associated with this Protein: |  ESTROGEN RESISTANCE (ESTRR)
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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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| HOLI | smart00430 | 6.1e-38 | 350 | 517 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_070072 | Disease | p.GLN375HIS | Estrogen resistance (ESTRR) | | Swiss-Prot | VAR_004671 | Polymorphism | p.GLY160CYS | N/A | | Swiss-Prot | VAR_018905 | Polymorphism | p.GLY77SER | N/A | | Swiss-Prot | VAR_004673 | Polymorphism | p.GLY400VAL | N/A | | Swiss-Prot | VAR_033028 | Polymorphism | p.HIS6TYR | N/A | | Swiss-Prot | VAR_033029 | Polymorphism | p.MET264ILE | N/A | | Swiss-Prot | VAR_004672 | Disease | p.VAL364GLU | Estrogen resistance (ESTRR) |
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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544257
ESR1_HUMAN RecName: Full=Estrogen receptor; Short=ER; AltName: Full=ER-alpha; AltName: Full=Estradiol receptor; AltName: Full=Nuclear receptor subfamily 3 group A member 1
2
5
0
0
7
