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Known Diseases associated with this Protein: |  AORTIC ANEURYSM, FAMILIAL THORACIC 7
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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 | rs3732487 | Polymorphism | p.ASP845GLU | N/A | | dbSNP | rs12172926 | Polymorphism | p.GLU940ASP | N/A | | dbSNP | rs3732486 | Polymorphism | p.LEU792PRO | N/A | | dbSNP | rs28497577 | Polymorphism | p.PRO21HIS | N/A | | dbSNP | rs9840993 | Polymorphism | p.PRO147SER | N/A | | dbSNP | rs75370906 | Polymorphism | p.THR1016ALA | N/A | | dbSNP | rs3796164 | Polymorphism | p.VAL261ALA | N/A | | dbSNP | rs34542174 | Polymorphism | p.VAL808MET | N/A | | OMIM | 600922.0002 | Disease | p.ARG1411TER | AORTIC ANEURYSM, FAMILIAL THORACIC 7 | | OMIM | 600922.0001 | Disease | p.SER1639PRO | AORTIC ANEURYSM, FAMILIAL THORACIC 7 |
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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116008190
myosin light chain kinase, smooth muscle isoform 3B [Homo sapiens]
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