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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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| Swiss-Prot | VAR_069261 | Disease | p.ARG465TRP | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) | | Swiss-Prot | VAR_069260 | Disease | p.ASN229SER | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) | | Swiss-Prot | VAR_065830 | Disease | p.GLU17LYS | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) | | Swiss-Prot | VAR_040358 | Polymorphism | p.GLY171ARG | N/A | | OMIM | 611223.0001 | Disease | p.ARG465TRP | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME | | OMIM | 611223.0002 | Disease | p.ASN229SER | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME | | OMIM | 611223.0003 | Disease | p.GLU17LYS | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME,||SOMATIC |
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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12643943
AKT3_HUMAN RecName: Full=RAC-gamma serine/threonine-protein kinase; AltName: Full=Protein kinase Akt-3; AltName: Full=Protein kinase B gamma; Short=PKB gamma; AltName: Full=RAC-PK-gamma; AltName: Full=STK-2
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