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Table 1 nsSNPS that were predicted to be functionally significant by SIFT (Tolerance index) and PolyPhen (PSIC score).

From: Investigation on the role of nsSNPs in HNPCC genes – a bioinformatics approach

Gene ids SNP ids Alleles Amino acid change Reference SIFT PolyPhen
Tolerance index Predicted impact PSIC score Predicted impact
MLH1 rs41295280 C/G G22A [45, 46] 0.03 Intolerant 1.606 Possibly damaging
  rs11541859 C/G E89Q -NA- 0.04 Intolerant 1.012 Borderline
  rs41295282 A/G S93G [4648] 0.07 Potentially Intolerant 1.828 Possibly damaging
  rs35338630 C/G R264G [46, 49] 0.00 Intolerant 1.711 Possibly damaging
  rs41295284 A/T L607H [45, 46, 50] 0.06 Potentially Intolerant 1.665 Possibly damaging
  rs35045067 A/G Y646C [46] 0.00 Intolerant 2.978 Probably damaging
  rs2020873 C/T H718Y [51, 52] 0.09 Potentially Intolerant 2.738 Probably damaging
MSH2 rs17217723 A/G Y43C [17, 46] 0.00 Intolerant 2.970 Probably damaging
  rs33946261 C/G H46Q [45, 46, 53] 0.25 Tolerant 2.988 Probably damaging
  rs17217772 A/G N127S [17, 46, 54] 0.01 Intolerant 2.359 Probably damaging
  rs4987188 A/G G322D [17, 46, 55] 0.37 Tolerant 1.504 Possibly damaging
  rs17224367 C/T L390F -NA- 0.02 Intolerant 0.949 Benign
  rs35717997 C/T P415S [46] 0.05 Intolerant 1.982 Possibly damaging
  rs180522 T/G H639Q [46, 56] 0.00 Intolerant 3.352 Probably damaging
  rs41295290 A/G D646G -NA- 0.05 Intolerant 2.410 Probably damaging
  rs41294982 C/T P670L [46, 56] 0.00 Intolerant 3.379 Probably damaging
  rs34319539 A/T K909I -NA- 0.05 Intolerant 1.863 Possibly damaging
  rs41295182 G/T L911R [46, 56] 0.04 Intolerant 1.961 Possibly damaging
MSH6 rs41294988 A/C K13T [45] 0.01 Intolerant 1.722 Possibly damaging
  rs1042821 C/T G39E [57, 58] 0.82 Tolerant 1.530 Possibly damaging
  rs41294984 C/T S65L [45] 0.25 Tolerant 1.620 Possibly damaging
  rs3211299 A/C S144I [45] 0.02 Intolerant 1.883 Possibly damaging
  rs41295268 A/G R468H [45] 0.54 Tolerant 1.954 Possibly damaging
  rs728619 A/C Y538S -NA- 0.78 Tolerant 2.674 Probably damaging
  rs41295270 C/T S580L [45] 0.19 Borderline 2.399 Probably damaging
  rs35552856 A/C K728T [59] 0.41 Tolerant 1.539 Possibly damaging
  rs34374438 A/T K854M [58, 60] 0.04 Intolerant 2.087 Probably damaging
  rs2020912 C/T V878A [57, 58] 0.52 Tolerant 1.540 Possibly damaging
  rs41295278 A/G R1321G [45] 0.07 Potentially Intolerant 1.975 Possibly damaging
PMS1 rs5742973 C/G E27Q -NA- 0.03 Intolerant 1.507 Possibly damaging
  rs1145231 C/T M394T [61] 0.63 Tolerant 1.950 Possibly damaging
  rs55726197 C/G Q437H -NA- 0.18 Borderline 2.057 Probably damaging
  rs56305733 A/G Q450R -NA- 0.59 Tolerant 1.655 Possibly damaging
  rs1145232 A/G G501R [61] 0.49 Tolerant 2.367 Probably damaging
  rs2066456 A/G N632S -NA- 0.74 Tolerant 1.961 Possibly damaging
  rs56309301 A/C N855T -NA- 0.53 Tolerant 1.722 Possibly damaging
PMS2 rs56203955 G/T Q30P [61] 0.00 Intolerant 2.838 Probably damaging
  rs6977072 C/G P37A -NA- 0.02 Intolerant 1.503 Possibly damaging
  rs34506829 A/G E41K -NA- 0.00 Intolerant 2.052 Probably damaging
  rs35943120 A/T L42I -NA- 0.00 Intolerant 1.547 Possibly damaging
  rs35629870 A/G R151H -NA- 0.04 Intolerant 2.292 Probably damaging
  rs36038802 A/C Q160K -NA- 0.69 Tolerant 1.544 Possibly damaging
  1. NA-Not Available; nsSNPs which were found to be deleterious by both SIFT and PolyPhen were highlighted as bold.