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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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| dbSNP | rs77825059 | Polymorphism | p.PRO228LEU | N/A | | OMIM | 601653.0007 | Disease | p.ARG374GLN | BRANCHIOOTORENAL SYNDROME 1 | | OMIM | 601653.0008 | Disease | p.ARG481GLY | ANTERIOR SEGMENT ANOMALIES AND CATARACT | | OMIM | 601653.0001 | Disease | p.ARG242TER | BRANCHIOOTORENAL SYNDROME 1 | | OMIM | 601653.0015 | Disease | p.ARG295TER | BRANCHIOOTIC SYNDROME 1||BRANCHIOOTORENAL SYNDROME 1, INCLUDED | | OMIM | 601653.0009 | Disease | p.GLU297LYS | ANTERIOR SEGMENT ANOMALIES | | OMIM | 601653.0010 | Disease | p.GLY360SER | BRANCHIOOTORENAL SYNDROME WITH CATARACT | | OMIM | 601653.0013 | Disease | p.LEU439ARG | BRANCHIOOTORENAL SYNDROME 1 | | OMIM | 601653.0012 | Disease | p.SER421PRO | BRANCHIOOTORENAL SYNDROME 1 |
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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eyes absent homolog 1 isoform a [Homo sapiens]
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