A benchmark database for variations

Home | Instructions | Datasets | Citing | Disclaimer |

3. MMR missense variants


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  


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