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Known Diseases associated with this Protein: | ACERULOPLASMINEMIA
| HYPOCERULOPLASMINEMIA, INCLUDED
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs34624984 | Polymorphism | p.ARG367CYS | N/A | Swiss-Prot | VAR_025659 | Polymorphism | p.ARG793HIS | N/A | dbSNP | rs701753 | Polymorphism | p.ASP544GLU | N/A | Swiss-Prot | VAR_025655 | Polymorphism | p.ILE63THR | N/A | dbSNP | rs73866999 | Polymorphism | p.PRO116HIS | N/A | Swiss-Prot | VAR_025656 | Polymorphism | p.PRO477LEU | N/A | Swiss-Prot | VAR_025660 | Polymorphism | p.THR841ARG | N/A | Swiss-Prot | VAR_025658 | Polymorphism | p.THR551ILE | N/A | OMIM | 117700.0003 | Disease | p.TRP858TER | ACERULOPLASMINEMIA||HYPOCERULOPLASMINEMIA, INCLUDED |
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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