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Table 5 In silico functional characterization of the missense variants

From: The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

Id Variant PMUT SIFT PolyPhen Phylogeny Activity in functional assays References
  MLH1       
24 p.Thr117Met Neutral Not tolerated Possible damaging Conserved Aberrant [11,12]
27 p.Val219Ile Neutral Tolerated Benign Ile other species Normal [11,12]
85 p.Ser406Asn Neutral Tolerated Benign Non-conserved Normal [11]
31 p.Glu460Ala Pathogen Tolerated Benign Non-conserved NA -
101 p.Ile563Met Neutral Tolerated Possible damaging Non-conserved NA -
34 p.Lys618Ala Pathogen Not tolerated Possible damaging Non-conserved Normal/aberrant [9,11,45–47]
100 p.Pro648Ser Pathogen Not tolerated Probably damaging Conserved Normal (aberrant protein stability) [9,67]
36 p.His718Tyr Neutral Not tolerated Probably damaging Conserved Normal [11]
  MSH2       
89 p.Thr44Met Neutral Not tolerated Possible damaging Conserved NA -
87 p.Ala45Val Neutral Tolerated Benign Val other species NA -
90 p.Arg96His Pathogen Tolerated Probably damaging Non-conserved NA -
91 p.Lys110Arg Neutral Tolerated Benign Non-conserved NA -
92 p.Asn127Ser Neutral Not tolerated Probably damaging Conserved NA -
93 p.Leu187Arg Neutral Not tolerated Probably damaging Conserved NA -
41 p.Gly322Asp Neutral Tolerated Benign Conserved Slightly reduced [8,44]
96 p.Met688Val Neutral Not tolerated Probably damaging Conserved NA -
50 p.Ala834Thr Pathogen Tolerated Possible damaging Non-conserved Normal [10]
51 p.Ala848Ser Neutral Not tolerated Possible damaging Conserved NA -
  1. NA, not available
  2. Danish variants that have not been described previously are in bold