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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_007482 | Disease | p.ALA112THR | Spherocytosis 5 (SPH5) | | Swiss-Prot | VAR_058100 | Disease | p.ARG287CYS | Spherocytosis 5 (SPH5) | | Swiss-Prot | VAR_012268 | Disease | p.ARG280GLN | Spherocytosis 5 (SPH5) | | Swiss-Prot | VAR_058099 | Disease | p.ASP145TYR | Spherocytosis 5 (SPH5) | | OMIM | 177070.0001 | Disease | p.ALA112THR | SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-NIPPON | | OMIM | 177070.0003 | Disease | p.ARG280GLN | SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR |
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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EPB42_HUMAN RecName: Full=Erythrocyte membrane protein band 4.2; Short=Erythrocyte protein 4.2; Short=P4.2
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