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Known Diseases associated with this Protein: | DEAFNESS, AUTOSOMAL RECESSIVE, 18B (DFNB18B)
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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_061161 | Polymorphism | p.ALA391ASP | N/A | Swiss-Prot | VAR_037413 | Polymorphism | p.ALA1399GLY | N/A | Swiss-Prot | VAR_037409 | Polymorphism | p.ALA919THR | N/A | Swiss-Prot | VAR_037411 | Polymorphism | p.ALA1112VAL | N/A | Swiss-Prot | VAR_037415 | Polymorphism | p.ALA1832VAL | N/A | Swiss-Prot | VAR_047262 | Polymorphism | p.ALA2006VAL | N/A | Swiss-Prot | VAR_037410 | Polymorphism | p.ARG1075GLN | N/A | Swiss-Prot | VAR_037417 | Polymorphism | p.ARG2750GLN | N/A | Swiss-Prot | VAR_037412 | Polymorphism | p.PRO1129LEU | N/A | Swiss-Prot | VAR_037414 | Polymorphism | p.PRO1646LEU | N/A | Swiss-Prot | VAR_069250 | Disease | p.PRO2116LEU | Deafness, autosomal recessive, 18B (DFNB18B) | Swiss-Prot | VAR_037408 | Polymorphism | p.SER692PRO | N/A | Swiss-Prot | VAR_037416 | Polymorphism | p.THR1947MET | N/A | Swiss-Prot | VAR_037407 | Polymorphism | p.THR659MET | N/A | Swiss-Prot | VAR_037406 | Polymorphism | p.THR375SER | N/A | Swiss-Prot | VAR_037418 | Polymorphism | p.TRP2909SER | N/A |
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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