Known Diseases associated with this Protein: | SOTOS SYNDROME 2
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Default View:
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Domains found on the Protein Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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DWA | smart00523 | 2.6e-23 | 75 | 183 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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OMIM | 164005.0012 | Disease | p.ARG121PRO | SOTOS SYNDROME 2 | OMIM | 164005.0001 | Disease | p.GLN190TER | SOTOS SYNDROME 2 | OMIM | 164005.0011 | Disease | p.LEU60PRO | SOTOS SYNDROME 2 |
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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