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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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| dbSNP | rs1801376 | Polymorphism | p.ARG349GLN | N/A | | dbSNP | rs1017842 | Polymorphism | p.GLU390ASP | N/A | | dbSNP | rs56079734 | Polymorphism | p.THR40MET | N/A | | dbSNP | rs1801528 | Polymorphism | p.VAL618ALA | N/A | | OMIM | 602860.0009 | Disease | p.ARG550GLN | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1||PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED | | OMIM | 602860.0007 | Disease | p.ARG814HIS | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1||PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED | | OMIM | 602860.0003 | Disease | p.ARG194TER | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1||PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED | | OMIM | 602860.0005 | Disease | p.GLN921HIS | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1||PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED | | OMIM | 602860.0004 | Disease | p.LEU844PHE | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1||PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED | | OMIM | 602860.0008 | Disease | p.LEU1012PRO | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1||PREMATURE CHROMATID SEPARATION TRAIT, INCLUDED | | OMIM | 602860.0001 | Disease | p.THR40MET | COLORECTAL CANCER, SOMATIC |
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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59814247
mitotic checkpoint serine/threonine-protein kinase BUB1 beta [Homo sapiens]
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