Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED 30
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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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| OMIM | 300142.0003 | Disease | p.ALA329GLU | MENTAL RETARDATION, X-LINKED 30 | | OMIM | 300142.0002 | Disease | p.ARG67CYS | MENTAL RETARDATION, X-LINKED 30 | | OMIM | 300142.0001 | Disease | p.ARG383TER | MENTAL RETARDATION, X-LINKED 30 | | OMIM | 300142.0004 | Disease | p.TRP410SER | MENTAL RETARDATION, X-LINKED 30 |
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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189491753
serine/threonine-protein kinase PAK 3 isoform a [Homo sapiens]
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