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 | 0.03 | Intolerant | 1.606 | Possibly damaging | |
rs11541859 | C/G | E89Q | -NA- | 0.04 | Intolerant | 1.012 | Borderline | |
rs41295282 | A/G | S93G | 0.07 | Potentially Intolerant | 1.828 | Possibly damaging | ||
rs35338630 | C/G | R264G | 0.00 | Intolerant | 1.711 | Possibly damaging | ||
rs41295284 | A/T | L607H | 0.06 | Potentially Intolerant | 1.665 | Possibly damaging | ||
rs35045067 | A/G | Y646C | [46] | 0.00 | Intolerant | 2.978 | Probably damaging | |
rs2020873 | C/T | H718Y | 0.09 | Potentially Intolerant | 2.738 | Probably damaging | ||
MSH2 | rs17217723 | A/G | Y43C | 0.00 | Intolerant | 2.970 | Probably damaging | |
rs33946261 | C/G | H46Q | 0.25 | Tolerant | 2.988 | Probably damaging | ||
rs17217772 | A/G | N127S | 0.01 | Intolerant | 2.359 | Probably damaging | ||
rs4987188 | A/G | G322D | 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 | 0.00 | Intolerant | 3.352 | Probably damaging | ||
rs41295290 | A/G | D646G | -NA- | 0.05 | Intolerant | 2.410 | Probably damaging | |
rs41294982 | C/T | P670L | 0.00 | Intolerant | 3.379 | Probably damaging | ||
rs34319539 | A/T | K909I | -NA- | 0.05 | Intolerant | 1.863 | Possibly damaging | |
rs41295182 | G/T | L911R | 0.04 | Intolerant | 1.961 | Possibly damaging | ||
MSH6 | rs41294988 | A/C | K13T | [45] | 0.01 | Intolerant | 1.722 | Possibly damaging |
rs1042821 | C/T | G39E | 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 | 0.04 | Intolerant | 2.087 | Probably damaging | ||
rs2020912 | C/T | V878A | 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 |