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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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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_027372 | Disease | p.ASN487SER | Erythrocytosis, familial, 1 (ECYT1) | | dbSNP | rs35423344 | Polymorphism | p.PRO380ALA | N/A | | Swiss-Prot | VAR_027373 | Disease | p.PRO488SER | Erythrocytosis, familial, 1 (ECYT1) | | OMIM | 133171.0003 | Disease | p.ASN487SER | ERYTHROCYTOSIS, FAMILIAL, 1||ERYTHROLEUKEMIA, INCLUDED | | OMIM | 133171.0001 | Disease | p.TRP439TER | ERYTHROCYTOSIS, FAMILIAL, 1 | | OMIM | 133171.0006 | Disease | p.TYR426TER | ERYTHROCYTOSIS, FAMILIAL, 1 |
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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119524
EPOR_HUMAN RecName: Full=Erythropoietin receptor; Short=EPO-R; Flags: Precursor
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