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Known Diseases associated with this Protein: |  ERYTHROCYTOSIS, FAMILIAL, 3
| ERYTHROCYTOSIS, FAMILIAL, 3 (ECYT3)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_045902 | Disease | p.ARG371HIS | Erythrocytosis, familial, 3 (ECYT3) | | Swiss-Prot | VAR_027371 | Disease | p.PRO317ARG | Erythrocytosis, familial, 3 (ECYT3) | | OMIM | 606425.0002 | Disease | p.ARG371HIS | ERYTHROCYTOSIS, FAMILIAL, 3 | | OMIM | 606425.0003 | Disease | p.HIS374ARG | ERYTHROCYTOSIS, FAMILIAL, 3 | | OMIM | 606425.0001 | Disease | p.PRO317ARG | ERYTHROCYTOSIS, FAMILIAL, 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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32129514
EGLN1_HUMAN RecName: Full=Egl nine homolog 1; AltName: Full=Hypoxia-inducible factor prolyl hydroxylase 2; Short=HIF-PH2; Short=HIF-prolyl hydroxylase 2; Short=HPH-2; AltName: Full=Prolyl hydroxylase domain-containing protein 2; Short=PHD2; AltName: Full=SM-20
5
0
3
0
2
