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Known Diseases associated with this Protein: |  LOEYS-DIETZ SYNDROME, TYPE 3
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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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| dbSNP | rs35874463 | Polymorphism | p.ILE126VAL | N/A | | OMIM | 603109.0007 | Disease | p.ALA68VAL | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0005 | Disease | p.ARG235LYS | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0001 | Disease | p.ARG243TRP | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0006 | Disease | p.GLU195LYS | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0010 | Disease | p.GLU317TER | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0009 | Disease | p.PRO219LEU | LOEYS-DIETZ SYNDROME, TYPE 3 | | OMIM | 603109.0003 | Disease | p.THR217ILE | LOEYS-DIETZ SYNDROME, TYPE 3 |
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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223029442
mothers against decapentaplegic homolog 3 isoform 3 [Homo sapiens]
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