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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_067830 | Disease | p.ARG234CYS | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) | Swiss-Prot | VAR_067832 | Disease | p.ARG944CYS | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) | Swiss-Prot | VAR_049682 | Polymorphism | p.LEU1042PHE | N/A | Swiss-Prot | VAR_067829 | Disease | p.PHE144LEU | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) | Swiss-Prot | VAR_067831 | Disease | p.SER235CYS | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) | OMIM | 148760.0003 | Disease | p.ARG944CYS | MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL||RETARDATION | OMIM | 148760.0001 | Disease | p.ARG387TER | MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL||RETARDATION | OMIM | 148760.0006 | Disease | p.SER235CYS | MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL||RETARDATION |
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.
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