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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | 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
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