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Known Diseases associated with this Protein: | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (MVA1)
| PREMATURE CHROMATID SEPARATION TRAIT (PCS)
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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_008853 | Polymorphism | p.ARG349GLN | N/A | Swiss-Prot | VAR_028921 | Disease | p.ARG36GLN | Premature chromatid separation trait (PCS) | Swiss-Prot | VAR_028923 | Disease | p.ARG550GLN | Mosaic variegated aneuploidy syndrome 1 (MVA1) | Swiss-Prot | VAR_028924 | Disease | p.ARG814HIS | Mosaic variegated aneuploidy syndrome 1 (MVA1) | Swiss-Prot | VAR_028927 | Disease | p.GLN921HIS | Mosaic variegated aneuploidy syndrome 1 (MVA1) | Swiss-Prot | VAR_028922 | Polymorphism | p.GLU390ASP | N/A | Swiss-Prot | VAR_028926 | Disease | p.ILE909THR | Mosaic variegated aneuploidy syndrome 1 (MVA1) | Swiss-Prot | VAR_028925 | Disease | p.LEU844PHE | Mosaic variegated aneuploidy syndrome 1 (MVA1) | Swiss-Prot | VAR_028928 | Disease | p.LEU1012PRO | Mosaic variegated aneuploidy syndrome 1 (MVA1) | Swiss-Prot | VAR_008852 | Polymorphism | p.MET15THR | N/A | Swiss-Prot | VAR_054549 | Polymorphism | p.PRO378SER | N/A | Swiss-Prot | VAR_040402 | Polymorphism | p.THR40MET | N/A | Swiss-Prot | VAR_008854 | Polymorphism | p.VAL618ALA | 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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