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Known Diseases associated with this Protein: |  GENITOPATELLAR SYNDROME
| SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME
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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_061367 | Polymorphism | p.ALA1217SER | N/A | | Swiss-Prot | VAR_067315 | Polymorphism | p.GLU360LYS | N/A | | Swiss-Prot | VAR_036361 | Polymorphism | p.THR483ALA | N/A | | Swiss-Prot | VAR_050217 | Polymorphism | p.VAL1499ILE | N/A | | OMIM | 605880.0012 | Disease | p.ARG1797TER | SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME | | OMIM | 605880.0004 | Disease | p.GLU1357TER | SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME | | OMIM | 605880.0009 | Disease | p.GLY1268TER | GENITOPATELLAR SYNDROME | | OMIM | 605880.0008 | Disease | p.GLY1298TER | GENITOPATELLAR SYNDROME |
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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143811424
KAT6B_HUMAN RecName: Full=Histone acetyltransferase KAT6B; AltName: Full=Histone acetyltransferase MOZ2; AltName: Full=MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; Short=MYST-4; AltName: Full=Monocytic leukemia zinc finger protein-related factor
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