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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 120436.0030 | Disease | p.ARG265CYS | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0010 | Disease | p.ARG226TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED | | OMIM | 120436.0019 | Disease | p.ASP132HIS | COLORECTAL CANCER, SPORADIC, SUSCEPTIBILITY TO | | OMIM | 120436.0013 | Disease | p.GLU578GLY | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0029 | Disease | p.GLY67GLU | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0011 | Disease | p.GLY67TRP | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2||MISMATCH REPAIR CANCER SYNDROME, INCLUDED | | OMIM | 120436.0008 | Disease | p.HIS329PRO | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0034 | Disease | p.LEU73ARG | MISMATCH REPAIR CANCER SYNDROME | | OMIM | 120436.0033 | Disease | p.LEU622HIS | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0012 | Disease | p.LYS618ALA | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | | OMIM | 120436.0028 | Disease | p.MET35ASN | MISMATCH REPAIR CANCER SYNDROME||COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2, INCLUDED | | OMIM | 120436.0002 | Disease | p.SER44PHE | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0001 | Disease | p.SER252TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0021 | Disease | p.SER269TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | | OMIM | 120436.0017 | Disease | p.THR117MET | 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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384871676
DNA mismatch repair protein Mlh1 isoform 4 [Homo sapiens]
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