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Known Diseases associated with this Protein: |  BRANCHIOOTORENAL SYNDROME 2 (BOR2)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_032941 | Disease | p.ALA158THR | Branchiootorenal syndrome 2 (BOR2) | | Swiss-Prot | VAR_032942 | Disease | p.ALA296THR | Branchiootorenal syndrome 2 (BOR2) | | Swiss-Prot | VAR_032943 | Disease | p.GLY365ARG | Branchiootorenal syndrome 2 (BOR2) | | Swiss-Prot | VAR_032945 | Polymorphism | p.LEU556VAL | N/A | | Swiss-Prot | VAR_032946 | Polymorphism | p.PRO635SER | N/A | | Swiss-Prot | VAR_032944 | Disease | p.THR552MET | Branchiootorenal syndrome 2 (BOR2) | | Swiss-Prot | VAR_032947 | Polymorphism | p.VAL693MET | 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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150421671
SIX5_HUMAN RecName: Full=Homeobox protein SIX5; AltName: Full=DM locus-associated homeodomain protein; AltName: Full=Sine oculis homeobox homolog 5
4
3
0
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7
