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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_012839 | Disease | p.ALA156THR | Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) | Swiss-Prot | VAR_056947 | Polymorphism | p.ALA542VAL | N/A | dbSNP | rs2287780 | Polymorphism | p.ARG442CYS | N/A | Swiss-Prot | VAR_012841 | Disease | p.CYS432ARG | Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) | Swiss-Prot | VAR_012842 | Disease | p.GLY514ARG | Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) | Swiss-Prot | VAR_015731 | Disease | p.GLY581ARG | Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) | Swiss-Prot | VAR_014944 | Polymorphism | p.HIS622TYR | N/A | dbSNP | rs1801394 | Polymorphism | p.ILE49MET | N/A | dbSNP | rs10064631 | Polymorphism | p.LEU360VAL | N/A | dbSNP | rs162036 | Polymorphism | p.LYS377ARG | N/A | dbSNP | rs16879334 | Polymorphism | p.PRO477ARG | N/A | Swiss-Prot | VAR_034595 | Polymorphism | p.SER202LEU | N/A | dbSNP | rs2303080 | Polymorphism | p.SER284THR | N/A | Swiss-Prot | VAR_012838 | Disease | p.VAL83MET | Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) | OMIM | 602568.0004 | Disease | p.GLY487ARG | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | OMIM | 602568.0003 | Disease | p.ILE22MET | NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||DOWN SYNDROME, SUSCEPTIBILITY TO, INCLUDED | OMIM | 602568.0007 | Disease | p.SER454LEU | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE |
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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