Description of the mutations of MSH2 (NM_000251) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC401697 | A2T | 2 | 4 | G>A | Colorel ner, non-polyposis |
| RC401698 | P5Q | 5 | 14 | C>A | Colorel ner, non-polyposis |
| RC401699 | T8M | 8 | 23 | C>T | Colorel ner, non-polyposis |
| RC401700 | Q10X | 10 | 28 | C>T | Colorel ner, non-polyposis |
| RC401701 | S13I | 13 | 38 | G>T | Colorel ner |
| RC401702 | V17F | 17 | 49 | G>T | Gsri ner |
| RC401703 | E28X | 28 | 82 | G>T | Colorel ner, non-polyposis |
| RC401704 | T33P | 33 | 97 | A>C | Colorel ner, non-polyposis |
| RC401705 | T33A | 33 | 97 | A>G | Colorel ner, non-polyposis |
| RC401706 | G40S | 40 | 118 | G>A | Colorel ner |
| RC401707 | Y43C | 43 | 128 | A>G | Colorel ner, non-polyposis |
| RC401708 | T44M | 44 | 131 | C>T | Colorel ner, non-polyposis |
| RC401709 | A45V | 45 | 134 | C>T | Colorel ner, non-polyposis |
| RC401710 | H46Q | 46 | 138 | C>G | Colorel ner |
| RC401711 | Q61X | 61 | 181 | C>T | Colorel ner, non-polyposis |
| RC401712 | Q76X | 76 | 226 | C>T | Colorel ner, non-polyposis |
| RC401713 | L93F | 93 | 277 | C>T | Colorel ner |
| RC401714 | Q97X | 97 | 289 | C>T | Muir-Torre syndrome |
| RC401715 | Y98C | 98 | 293 | A>G | Colorel ner, non-polyposis |
| RC401716 | E101X | 101 | 301 | G>T | Colorel ner, non-polyposis |
| RC401717 | V102I | 102 | 304 | G>A | Colorel ner, non-polyposis |
| RC401718 | A107P | 107 | 319 | G>C | Colorel ner, non-polyposis |
| RC401719 | Y121X | 121 | 363 | T>G | Colorel ner, non-polyposis |
| RC401720 | N127S | 127 | 380 | A>G | Colorel ner, non-polyposis |
| RC401721 | N127I | 127 | 380 | A>T | Colorel ner, non-polyposis, erly-onse |
| RC401722 | S142X | 142 | 425 | C>G | Colorel ner, non-polyposis |
| RC401723 | I145M | 145 | 435 | T>G | Colorel ner, non-polyposis |
| RC401724 | G149D | 149 | 446 | G>A | Colorel ner, non-polyposis |
| RC401725 | Q158X | 158 | 472 | C>T | Colorel ner, non-polyposis |
| RC401726 | Q160X | 160 | 478 | C>T | Muir-Torre syndrome |
| RC401727 | V161D | 161 | 482 | T>A | Colorel ner, non-polyposis |
| RC401728 | G162A | 162 | 485 | G>C | Colorel ner, non-polyposis |
| RC401729 | G162R | 162 | 484 | G>C | Colorel ner, non-polyposis |
| RC401730 | G162R | 162 | 484 | G>A | Colorel ner, non-polyposis |
| RC401731 | V163D | 163 | 488 | T>A | Colorel ner, non-polyposis |
| RC401732 | V163G | 163 | 488 | T>G | Colorel ner, non-polyposis |
| RC401733 | G164W | 164 | 490 | G>T | Colorel ner, non-polyposis |
| RC401734 | G164R | 164 | 490 | G>A | Colorel ner, non-polyposis |
| RC401735 | D167H | 167 | 499 | G>C | Colorel ner, non-polyposis |
| RC401736 | I169V | 169 | 505 | A>G | Colorel ner, non-polyposis |
| RC401737 | Q170X | 170 | 508 | C>T | Colorel ner, non-polyposis |
| RC401738 | L173P | 173 | 518 | T>C | Colorel ner, non-polyposis |
| RC401739 | L175P | 175 | 524 | T>C | Colorel ner, non-polyposis |
| RC401740 | E177K | 177 | 529 | G>A | Colorel ner, non-polyposis |
| RC401741 | Q183X | 183 | 547 | C>T | Colorel ner, non-polyposis |
| RC401742 | L187P | 187 | 560 | T>C | Colorel ner, non-polyposis |
| RC401743 | L187R | 187 | 560 | T>G | Colorel ner, non-polyposis |
| RC401744 | Q193X | 193 | 577 | C>T | Colorel ner, non-polyposis |
| RC401745 | E198G | 198 | 593 | A>G | Colorel ner, non-polyposis |
| RC401746 | C199R | 199 | 595 | T>C | Gliom |
| RC401747 | G204X | 204 | 610 | G>T | Colorel ner, non-polyposis |
| RC401748 | E205X | 205 | 613 | G>T | Colorel ner, non-polyposis |
| RC401749 | Q215X | 215 | 643 | C>T | Colorel ner, non-polyposis |
| RC401750 | I216V | 216 | 646 | A>G | Colorel ner, non-polyposis |
| RC401751 | Q239X | 239 | 715 | C>T | Colorel ner, non-polyposis |
| RC401752 | R243Q | 243 | 728 | G>A | Colorel ner, non-polyposis |
| RC401753 | K246X | 246 | 736 | A>T | Colorel ner, non-polyposis |
| RC401754 | K246Q | 246 | 736 | A>C | Colorel ner, non-polyposis |
| RC401755 | Q252X | 252 | 754 | C>T | Colorel ner, non-polyposis |
| RC401756 | A272V | 272 | 815 | C>T | Colorel ner, non-polyposis |
| RC401757 | S281X | 281 | 842 | C>A | Colorel ner, non-polyposis |
| RC401758 | D283Y | 283 | 847 | G>T | Colorel ner, non-polyposis |
| RC401759 | G287X | 287 | 859 | G>T | Colorel ner, non-polyposis |
| RC401760 | Q288X | 288 | 862 | C>T | Colorel ner, non-polyposis |
| RC401761 | Q298X | 298 | 892 | C>T | Colorel ner, non-polyposis |
| RC401762 | K301X | 301 | 901 | A>T | Colorel ner, non-polyposis |
| RC401763 | L302X | 302 | 905 | T>A | Colorel ner, non-polyposis |
| RC401764 | A305T | 305 | 913 | G>A | Colorel ner, non-polyposis |
| RC401765 | G315V | 315 | 944 | G>T | Colorel ner, non-polyposis |
| RC401766 | G322D | 322 | 965 | G>A | Colorel ner, non-polyposis |
| RC401767 | S323Y | 323 | 968 | C>A | Colorel ner, non-polyposis |
| RC401768 | S323C | 323 | 968 | C>G | Colorel ner, non-polyposis |
| RC401769 | C333Y | 333 | 998 | G>A | Colorel ner, non-polyposis |
| RC401770 | C333R | 333 | 997 | T>C | Colorel ner, non-polyposis |
| RC401771 | K334X | 334 | 1000 | A>T | Colorel ner, non-polyposis |
| RC401772 | T335I | 335 | 1004 | C>T | Colorel ner, non-polyposis |
| RC401773 | P336S | 336 | 1006 | C>T | Colorel ner, non-polyposis |
| RC401774 | Q337X | 337 | 1009 | C>T | Colorel ner, non-polyposis |
| RC401775 | L341P | 341 | 1022 | T>C | Colorel ner, non-polyposis |
| RC401776 | V342I | 342 | 1024 | G>A | Colorel ner |
| RC401777 | Q344X | 344 | 1030 | C>T | Colorel ner, non-polyposis |
| RC401778 | W345X | 345 | 1035 | G>A | Colorel ner, non-polyposis |
| RC401779 | W345X | 345 | 1034 | G>A | Colorel ner |
| RC401780 | P349L | 349 | 1046 | C>T | Colorel ner, non-polyposis |
| RC401781 | P349A | 349 | 1045 | C>G | Renl ell rinom |
| RC401782 | R359S | 359 | 1077 | A>T | Colorel ner, non-polyposis |
| RC401783 | R359X | 359 | 1075 | A>T | Colorel ner, non-polyposis |
| RC401784 | Q374X | 374 | 1120 | C>T | Colorel ner, non-polyposis |
| RC401785 | Q377X | 377 | 1129 | C>T | Colorel ner, non-polyposis |
| RC401786 | R382H | 382 | 1145 | G>A | Colorel ner |
| RC401787 | R383X | 383 | 1147 | C>T | Colorel ner, non-polyposis |
| RC401788 | R389X | 389 | 1165 | C>T | Colorel ner, non-polyposis |
| RC401789 | L390F | 390 | 1168 | C>T | Colorel ner, non-polyposis |
| RC401790 | L390V | 390 | 1168 | C>G | Colorel ner, non-polyposis |
| RC401791 | K393M | 393 | 1178 | A>T | Colorel ner, non-polyposis |
| RC401792 | Q395X | 395 | 1183 | C>T | Colorel ner, non-polyposis |
| RC401793 | Q397X | 397 | 1189 | C>T | Colorel ner, non-polyposis |
| RC401794 | Q402X | 402 | 1204 | C>T | Colorel ner, non-polyposis |
| RC401795 | Y405X | 405 | 1215 | C>A | Colorel ner, non-polyposis |
| RC401796 | R406X | 406 | 1216 | C>T | Colorel ner, non-polyposis |
| RC401797 | Y408C | 408 | 1223 | A>G | Gsri ner |
| RC401798 | Q409K | 409 | 1225 | C>A | Colorel ner |
| RC401799 | Q419K | 419 | 1255 | C>A | Colorel ner |
| RC401800 | Q419X | 419 | 1255 | C>T | Colorel ner, non-polyposis |
| RC401801 | E422X | 422 | 1264 | G>T | Colorel ner, non-polyposis |
| RC401802 | Q429X | 429 | 1285 | C>T | Colorel ner, non-polyposis |
| RC401803 | K430X | 430 | 1288 | A>T | Colorel ner, non-polyposis |
| RC401804 | L431X | 431 | 1292 | T>A | Colorel ner, non-polyposis |
| RC401805 | L440P | 440 | 1319 | T>C | Colorel ner, non-polyposis |
| RC401806 | T441P | 441 | 1321 | A>C | Colorel ner, non-polyposis |
| RC401807 | K449X | 449 | 1345 | A>T | Colorel ner, non-polyposis |
| RC401808 | E452X | 452 | 1354 | G>T | Colorel ner, non-polyposis |
| RC401809 | L458X | 458 | 1373 | T>G | Colorel ner, non-polyposis |
| RC401810 | S473X | 473 | 1418 | C>G | Colorel ner, non-polyposis |
| RC401811 | S473L | 473 | 1418 | C>T | Colorel ner, non-polyposis |
| RC401812 | E483X | 483 | 1447 | G>T | Colorel ner, non-polyposis |
| RC401813 | Q493X | 493 | 1477 | C>T | Colorel ner, non-polyposis |
| RC401814 | L496X | 496 | 1487 | T>G | Colorel ner, non-polyposis |
| RC401815 | D506Y | 506 | 1516 | G>T | Colorel ner, non-polyposis |
| RC401816 | Q518X | 518 | 1552 | C>T | Colorel ner, non-polyposis |
| RC401817 | Y522X | 522 | 1566 | C>G | Colorel ner, non-polyposis |
| RC401818 | R524L | 524 | 1571 | G>T | Colorel ner, non-polyposis |
| RC401819 | R524P | 524 | 1571 | G>C | Colorel ner, non-polyposis |
| RC401820 | G548C | 548 | 1642 | G>T | Colorel ner, non-polyposis |
| RC401821 | T552P | 552 | 1654 | A>C | Colorel ner, non-polyposis |
| RC401822 | S554R | 554 | 1660 | A>C | Colorel ner, non-polyposis |
| RC401823 | E561K | 561 | 1681 | G>A | Colorel ner, non-polyposis |
| RC401824 | E562V | 562 | 1685 | A>T | Colorel ner, non-polyposis |
| RC401825 | Y563S | 563 | 1688 | A>C | Colorel ner, non-polyposis |
| RC401826 | T564A | 564 | 1690 | A>G | Colorel ner, non-polyposis |
| RC401827 | Q574X | 574 | 1720 | C>T | Colorel ner, non-polyposis |
| RC401828 | E580X | 580 | 1738 | G>T | Gliom |
| RC401829 | N583I | 583 | 1748 | A>T | Colorel ner, non-polyposis |
| RC401830 | N583S | 583 | 1748 | A>G | Colorel ner, non-polyposis |
| RC401831 | Y588X | 588 | 1764 | T>G | Colorel ner, non-polyposis |
| RC401832 | Q593X | 593 | 1777 | C>T | Colorel ner, non-polyposis |
| RC401833 | N596S | 596 | 1787 | A>G | Colorel ner, non-polyposis |
| RC401834 | A600V | 600 | 1799 | C>T | Colorel ner, non-polyposis |
| RC401835 | Q601X | 601 | 1801 | C>T | Colorel ner, non-polyposis |
| RC401836 | D603G | 603 | 1808 | A>G | Colorel ner, non-polyposis |
| RC401837 | D603N | 603 | 1807 | G>A | Colorel ner, non-polyposis |
| RC401838 | S612X | 612 | 1835 | C>G | Colorel ner, non-polyposis |
| RC401839 | Y619X | 619 | 1857 | T>G | Colorel ner, non-polyposis |
| RC401840 | Y619C | 619 | 1856 | A>G | Colorel ner |
| RC401841 | R621X | 621 | 1861 | C>T | Colorel ner, non-polyposis |
| RC401842 | P622L | 622 | 1865 | C>T | Colorel ner, non-polyposis |
| RC401843 | P622T | 622 | 1864 | C>A | Colorel ner, non-polyposis |
| RC401844 | K627N | 627 | 1881 | A>C | Colorel ner, non-polyposis |
| RC401845 | Q629R | 629 | 1886 | A>G | Colorel ner, non-polyposis |
| RC401846 | Q629X | 629 | 1885 | C>T | Colorel ner, non-polyposis |
| RC401847 | A636P | 636 | 1906 | G>C | Colorel ner, non-polyposis |
| RC401848 | H639Q | 639 | 1917 | T>A | Colorel ner, non-polyposis |
| RC401849 | H639R | 639 | 1916 | A>G | Colorel ner, non-polyposis |
| RC401850 | H639Y | 639 | 1915 | C>T | Colorel ner, non-polyposis |
| RC401851 | E647K | 647 | 1939 | G>A | Colorel ner, non-polyposis |
| RC401852 | P652H | 652 | 1955 | C>A | Colorel ner, non-polyposis |
| RC401853 | Y656X | 656 | 1968 | C>G | Colorel ner, non-polyposis |
| RC401854 | D660G | 660 | 1979 | A>G | Colorel ner, non-polyposis |
| RC401855 | G669S | 669 | 2005 | G>A | Colorel ner, non-polyposis |
| RC401856 | N671Y | 671 | 2011 | A>T | Colorel ner, non-polyposis |
| RC401857 | G674D | 674 | 2021 | G>A | Colorel ner, non-polyposis |
| RC401858 | G674S | 674 | 2020 | G>A | Colorel ner, non-polyposis |
| RC401859 | G674R | 674 | 2020 | G>C | Colorel ner, non-polyposis |
| RC401860 | S676P | 676 | 2026 | T>C | Muir-Torre syndrome |
| RC401861 | R680X | 680 | 2038 | C>T | Colorel ner, non-polyposis |
| RC401862 | G683R | 683 | 2047 | G>A | Colorel ner, non-polyposis |
| RC401863 | M688I | 688 | 2064 | G>A | Colorel ner, non-polyposis |
| RC401864 | M688R | 688 | 2063 | T>G | Colorel ner, non-polyposis |
| RC401865 | G692V | 692 | 2075 | G>T | Colorel ner, non-polyposis |
| RC401866 | G692R | 692 | 2074 | G>C | Colorel ner, non-polyposis |
| RC401867 | C697X | 697 | 2091 | T>A | Colorel ner, non-polyposis |
| RC401868 | C697F | 697 | 2090 | G>T | Colorel ner, non-polyposis |
| RC401869 | C697R | 697 | 2089 | T>C | Colorel ner, non-polyposis |
| RC401870 | I708N | 708 | 2123 | T>A | Colorel ner, non-polyposis |
| RC401871 | R711X | 711 | 2131 | C>T | Colorel ner, non-polyposis |
| RC401872 | A714V | 714 | 2141 | C>T | Colorel ner, non-polyposis |
| RC401873 | Q718X | 718 | 2152 | C>T | Colorel ner, non-polyposis |
| RC401874 | S723F | 723 | 2168 | C>T | Colorel ner, non-polyposis |
| RC401875 | E731X | 731 | 2191 | G>T | Colorel ner, non-polyposis |
| RC401876 | S743X | 743 | 2228 | C>G | Muir-Torre syndrome |
| RC401877 | S743X | 743 | 2228 | C>A | Colorel ner, non-polyposis |
| RC401878 | E749K | 749 | 2245 | G>A | Colorel ner, non-polyposis |
| RC401879 | G751R | 751 | 2251 | G>A | Colorel ner, non-polyposis |
| RC401880 | G759X | 759 | 2275 | G>T | Colorel ner, non-polyposis |
| RC401881 | W764X | 764 | 2292 | G>A | Colorel ner, non-polyposis |
| RC401882 | C778X | 778 | 2334 | C>A | Colorel ner, non-polyposis |
| RC401883 | E808X | 808 | 2422 | G>T | Colorel ner |
| RC401884 | L811X | 811 | 2432 | T>G | Colorel ner, non-polyposis |
| RC401885 | M813V | 813 | 2437 | A>G | Colorel ner, non-polyposis |
| RC401886 | Q816X | 816 | 2446 | C>T | Colorel ner, non-polyposis |
| RC401887 | Q824X | 824 | 2470 | C>T | Colorel ner, non-polyposis |
| RC401888 | Q824E | 824 | 2470 | C>G | Gsri ner |
| RC401889 | A834T | 834 | 2500 | G>A | Colorel ner, non-polyposis |
| RC401890 | H839R | 839 | 2516 | A>G | Colorel ner, non-polyposis |
| RC401891 | K845E | 845 | 2533 | A>G | Colorel ner, non-polyposis |
| RC401892 | Q846X | 846 | 2536 | C>T | Colorel ner, non-polyposis |
| RC401893 | E853A | 853 | 2558 | A>C | Colorel ner, non-polyposis |
| RC401894 | Q855X | 855 | 2563 | C>T | Renl nd ureeri ner |
| RC401895 | E859X | 859 | 2575 | G>T | Colorel ner, non-polyposis |
| RC401896 | S860X | 860 | 2579 | C>A | Colorel ner, non-polyposis |
| RC401897 | Q861X | 861 | 2581 | C>T | Colorel ner, non-polyposis |
| RC401898 | P868A | 868 | 2602 | C>G | Gsri ner |
| RC401899 | A870G | 870 | 2609 | C>G | Gsri ner |
| RC401900 | C873G | 873 | 2617 | T>G | Gsri ner |
| RC401901 | Q879X | 879 | 2635 | C>T | Colorel ner, non-polyposis |
| RC401902 | Q885X | 885 | 2653 | C>T | Colorel ner, non-polyposis |
| RC401903 | E886G | 886 | 2657 | A>G | Colorel ner, non-polyposis |
| RC401904 | T905R | 905 | 2714 | C>G | Colorel ner, non-polyposis |
| RC401905 | L911R | 911 | 2732 | T>G | Colorel ner, non-polyposis |
| RC401906 | V923E | 923 | 2768 | T>A | Colorel ner, non-polyposis |
| RC401907 | I930M | 930 | 2790 | A>G | Colorel ner, non-polyposis |
| RC401908 | K931T | 931 | 2792 | A>C | Colorel ner, non-polyposis |
