Known Diseases associated with this Protein: |  ACRODYSOSTOSIS 2
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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 | 600129.0006 | Disease | p.GLU366ALA | ACRODYSOSTOSIS 2 | | OMIM | 600129.0007 | Disease | p.GLY449ASP | ACRODYSOSTOSIS 2 | | OMIM | 600129.0004 | Disease | p.THR363PRO | ACRODYSOSTOSIS 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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308387382
cAMP-specific 3',5'-cyclic phosphodiesterase 4D isoform PDE4D1 [Homo sapiens]
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