3. MMR missense variants

DATASET 1

This dataset is comprised of 168 experimentally verified MMR missense variants with known functional effect from the literature. There are

1. 88 variations in the neutral dataset. Download: Neutral_Variants
2. 80 variations in the pathogenic dataset. Download: Pathogenic_Variants

References: Ali H, Olatubosun A, Vihinen M. Classification of mismatch repair gene missense variants with PON-MMR. Hum Mutat. 2012 Apr; 33(4):642-50. doi: 10.1002/humu.22038.   PUBMED  

DATASET 2

This dataset is comprised of 224 validated MMR amino acid substitutions with known functional effect from InSiGHT database. This dataset is used for training and testing PON-MMR2.There are

1. 178 (89 pathogenic and 89 neutral) variations in the training dataset. Download: Training dataset
2. 46 (32 pathogenic and 14 neutral) variations in the test dataset. Download: Test dataset

References: Niroula A, Vihinen M. 2015. Classification of amino acid substitutions in mismatch repair proteins using PON-MMR2. Hum Mutat 36(12):1128-1134  PUBMED