CoDP [Combination of Different Properties of MSH6 protein] predicts the impact of all possible amino acid substitutions on the function of MSH6 protein. We combined a score for the volume change in the amino acid by mutation, the location of amino acid in protein three-dimensional structure, and the impact scores by SIFT, MAPP and PolyPhen2 and achieved a high reliability in the prediction.
Germline mutations in one of the mismatch repair (MMR) genes (MSH6, MLH1, MSH2 and PMS2) cause Lynch syndrome. Lynch syndrome is the common hereditary colorectal cancer syndrome, and is known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Pathogenic mutations in MSH6 increase the risk for colorectal cancer and other Lynch syndrome associated cancers, especially endometrial cancer. CoDP is a bioinformatic tool for a genetic counsellor to interpret MSH6 variants.
reference: H. Terui, K. Akagi, H. Kawame, K. Yura (2013) CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein, Journal of Biomedical Science, 20:25 (doi:10.1186/1423-0127-20-25).
Prediction in 2 steps:
STEP 1: Select the mutated amino acid in MSH6 from the sequence below. Click the mutated amino acid.
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