PON-MMR2 classifies amino acid substitutions in mismatch repair (MMR) proteins: MLH1, MSH2, MSH6 and PMS2.
It is a machine learning-based method and utilizes amino acid features and evolutionary information.
It is trained and tested on variants obtained from
InSiGHT database that are classified into benign (Classes 1 and 2) and harmful (Classes 4 and 5) (Thompson et al.)
as well as variants obtained from VariBench database that were used to train PON-MMR (Ali et al.).
If you use PON-MMR2, please cite the following publication.
Niroula A, Vihinen M. 2015. Classification of amino acid substitutions in mismatch repair proteins using PON-MMR2. Hum Mutat 36(12):1128-1134.
