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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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dbSNP | rs2020873 | Polymorphism | p.HIS620TYR | N/A | dbSNP | rs1799977 | Polymorphism | p.ILE121LEU | N/A | dbSNP | rs2308317 | Polymorphism | p.VAL115MET | N/A | OMIM | 120436.0022 | Disease | p.ALA583THR | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0030 | Disease | p.ARG167CYS | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0010 | Disease | p.ARG128TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED | OMIM | 120436.0019 | Disease | p.ASP34HIS | COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO | OMIM | 120436.0013 | Disease | p.GLU480GLY | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0008 | Disease | p.HIS231PRO | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0033 | Disease | p.LEU524HIS | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0012 | Disease | p.LYS520ALA | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 120436.0020 | Disease | p.PRO550SER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED | OMIM | 120436.0001 | Disease | p.SER154TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0021 | Disease | p.SER171TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | OMIM | 120436.0017 | Disease | p.THR19MET | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 |
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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