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Known Diseases associated with this Protein: |  ALPORT SYNDROME, X-LINKED
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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 | rs2272946 | Polymorphism | p.ILE444SER | N/A | | OMIM | 303630.0012 | Disease | p.ARG1419CYS | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0015 | Disease | p.ARG1675GLN | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0002 | Disease | p.CYS108SER | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0007 | Disease | p.GLY325ARG | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0006 | Disease | p.GLY1143ASP | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0013 | Disease | p.GLY54ASP | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0010 | Disease | p.GLY521CYS | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0011 | Disease | p.GLY325GLU | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0012 | Disease | p.GLY289VAL | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0014 | Disease | p.LEU1647ARG | ALPORT SYNDROME, X-LINKED | | OMIM | 303630.0009 | Disease | p.TRP1536SER | ALPORT SYNDROME, X-LINKED |
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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4502955
collagen alpha-5(IV) chain isoform 1 precursor [Homo sapiens]
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