Known Diseases associated with this Protein: |  HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
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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 | rs2852003 | Polymorphism | p.ALA28ASP | N/A | | dbSNP | rs276938 | Polymorphism | p.ARG102LYS | N/A | | dbSNP | rs35296997 | Polymorphism | p.LYS180GLN | N/A | | dbSNP | rs276937 | Polymorphism | p.SER78THR | N/A | | OMIM | 600271.0001 | Disease | p.LEU710TER | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES |
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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148539848
desmocollin-3 isoform Dsc3b preproprotein [Homo sapiens]
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