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Known Diseases associated with this Protein: | KABUKI SYNDROME 1 (KABUK1)
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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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Default View:
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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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dbSNP | rs1064210 | Polymorphism | p.ALA476THR | N/A | dbSNP | rs55865069 | Polymorphism | p.ARG83GLN | N/A | dbSNP | rs75226229 | Polymorphism | p.PRO813LEU | N/A | dbSNP | rs80132640 | Polymorphism | p.SER4010PRO | N/A | Swiss-Prot | VAR_057359 | Polymorphism | p.ALA476THR | N/A | Swiss-Prot | VAR_064373 | Polymorphism | p.ARG2460CYS | N/A | Swiss-Prot | VAR_063831 | Disease | p.ARG5179HIS | Kabuki syndrome 1 (KABUK1) | Swiss-Prot | VAR_063832 | Disease | p.ARG5214HIS | Kabuki syndrome 1 (KABUK1) | Swiss-Prot | VAR_017115 | Polymorphism | p.ARG5224HIS | N/A | Swiss-Prot | VAR_063833 | Disease | p.ARG5340LEU | Kabuki syndrome 1 (KABUK1) | Swiss-Prot | VAR_064377 | Polymorphism | p.ARG4357SER | N/A | Swiss-Prot | VAR_064376 | Polymorphism | p.ASP3419GLY | N/A | Swiss-Prot | VAR_063830 | Disease | p.CYS5109PHE | Kabuki syndrome 1 (KABUK1) | Swiss-Prot | VAR_064379 | Disease | p.GLY5428ASP | Kabuki syndrome 1 (KABUK1) | Swiss-Prot | VAR_064375 | Polymorphism | p.MET3398VAL | N/A | Swiss-Prot | VAR_064374 | Polymorphism | p.PRO2557LEU | N/A | Swiss-Prot | VAR_064371 | Polymorphism | p.PRO813LEU | N/A | Swiss-Prot | VAR_064372 | Polymorphism | p.PRO2382SER | N/A | Swiss-Prot | VAR_064370 | Polymorphism | p.PRO692THR | N/A | Swiss-Prot | VAR_063834 | Disease | p.THR5464MET | Kabuki syndrome 1 (KABUK1) | Swiss-Prot | VAR_064378 | Disease | p.TYR5210CYS | Kabuki syndrome 1 (KABUK1) |
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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