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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_042512 | Disease | p.ARG59GLY | Hemochromatosis 2B (HFE2B) | | Swiss-Prot | VAR_042513 | Disease | p.CYS70ARG | Hemochromatosis 2B (HFE2B) | | Swiss-Prot | VAR_042514 | Disease | p.CYS78TYR | Hemochromatosis 2B (HFE2B) | | Swiss-Prot | VAR_026648 | Disease | p.GLY71ASP | Hemochromatosis 2B (HFE2B) | | OMIM | 606464.0002 | Disease | p.ARG56TER | HEMOCHROMATOSIS, TYPE 2B | | OMIM | 606464.0004 | Disease | p.GLY71ASP | HEMOCHROMATOSIS, TYPE 2A, MODIFIER OF |
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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10720397
HEPC_HUMAN RecName: Full=Hepcidin; AltName: Full=Liver-expressed antimicrobial peptide 1; Short=LEAP-1; AltName: Full=Putative liver tumor regressor; Short=PLTR; Contains: RecName: Full=Hepcidin-25; Short=Hepc25; Contains: RecName: Full=Hepcidin-20; Short=Hepc20; Flags: Precursor
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