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Known Diseases associated with this Protein: |  ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
| ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 (AHMIO1)
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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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| Nramp | pfam01566 | 8.7e-131 | 90 | 474 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_036434 | Polymorphism | p.ALA48THR | N/A | | Swiss-Prot | VAR_033014 | Disease | p.ARG416CYS | Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) | | Swiss-Prot | VAR_033013 | Disease | p.GLU399ASP | Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) | | Swiss-Prot | VAR_033012 | Disease | p.GLY212VAL | Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) | | Swiss-Prot | VAR_008882 | Polymorphism | p.LEU435ILE | N/A | | OMIM | 600523.0003 | Disease | p.ARG387CYS | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD | | OMIM | 600523.0001 | Disease | p.GLU370ASP | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD | | OMIM | 600523.0005 | Disease | p.GLY183VAL | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD |
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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8247934
NRAM2_HUMAN RecName: Full=Natural resistance-associated macrophage protein 2; Short=NRAMP 2; AltName: Full=Divalent cation transporter 1; AltName: Full=Divalent metal transporter 1; Short=DMT-1; AltName: Full=Solute carrier family 11 member 2
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