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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_058458 | Polymorphism | p.ALA746THR | N/A | Swiss-Prot | VAR_058453 | Polymorphism | p.ARG294GLN | N/A | Swiss-Prot | VAR_058459 | Polymorphism | p.ARG762TRP | N/A | Swiss-Prot | VAR_058455 | Disease | p.GLY504ARG | Kufor-Rakeb syndrome (KRS) | Swiss-Prot | VAR_058456 | Polymorphism | p.GLY533ARG | N/A | Swiss-Prot | VAR_066020 | Disease | p.GLY877ARG | Kufor-Rakeb syndrome (KRS) | Swiss-Prot | VAR_058452 | Polymorphism | p.GLY49SER | N/A | Swiss-Prot | VAR_058461 | Polymorphism | p.ILE946PHE | N/A | Swiss-Prot | VAR_066021 | Disease | p.LEU1059ARG | Kufor-Rakeb syndrome (KRS) | Swiss-Prot | VAR_070194 | Disease | p.MET854ARG | Ceroid lipofuscinosis, neuronal, 12 (CLN12) | Swiss-Prot | VAR_066019 | Disease | p.PHE182LEU | Kufor-Rakeb syndrome (KRS) | Swiss-Prot | VAR_058454 | Polymorphism | p.PRO389LEU | N/A | Swiss-Prot | VAR_058451 | Polymorphism | p.THR12MET | N/A | Swiss-Prot | VAR_058457 | Polymorphism | p.VAL578GLY | N/A | Swiss-Prot | VAR_058460 | Polymorphism | p.VAL776ILE | N/A | OMIM | 610513.0004 | Disease | p.GLY504ARG | KUFOR-RAKEB SYNDROME | OMIM | 610513.0008 | Disease | p.GLY877ARG | KUFOR-RAKEB SYNDROME | OMIM | 610513.0007 | Disease | p.MET810ARG | CEROID LIPOFUSCINOSIS, NEURONAL, 12 (1 family) |
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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