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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 | rs2234675 | Polymorphism | p.THR315LYS | N/A | | OMIM | 606597.0014 | Disease | p.ARG56LEU | WAARDENBURG SYNDROME, TYPE 1 | | OMIM | 606597.0011 | Disease | p.ASN47HIS | WAARDENBURG SYNDROME, TYPE 3 | | OMIM | 606597.0010 | Disease | p.ASN47LYS | CRANIOFACIAL-DEAFNESS-HAND SYNDROME | | OMIM | 606597.0006 | Disease | p.GLY81ALA | WAARDENBURG SYNDROME, TYPE 1 | | OMIM | 606597.0015 | Disease | p.HIS80ASP | WAARDENBURG SYNDROME, TYPE 1 | | OMIM | 606597.0002 | Disease | p.PRO50LEU | WAARDENBURG SYNDROME, TYPE 1 | | OMIM | 606597.0009 | Disease | p.SER84PHE | WAARDENBURG SYNDROME, TYPE 3||WAARDENBURG SYNDROME, TYPE 1, INCLUDED | | OMIM | 606597.0013 | Disease | p.TYR90HIS | WAARDENBURG 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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31563346
paired box protein Pax-3 isoform PAX3h [Homo sapiens]
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