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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_066947 | Disease | p.ALA270VAL | Febrile seizures, familial, 11 (FEB11) | dbSNP | rs17343819 | Polymorphism | p.ASN249SER | N/A | Swiss-Prot | VAR_066946 | Disease | p.GLY267ARG | Epilepsy, familial temporal lobe, 5 (ETL5) | dbSNP | rs10957393 | Polymorphism | p.PHE45LEU | N/A | dbSNP | rs17853192 | Polymorphism | p.SER173CYS | N/A | OMIM | 609562.0001 | Disease | p.ALA270VAL | FEBRILE SEIZURES, FAMILIAL, 11 | OMIM | 609562.0002 | Disease | p.GLY267ARG | EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 |
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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