The UMD-MSH2 mutations database
Variations with a biological significance = Neutral

    Request ID: 7229610851

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
4G>A	c.4G>A	1		p.Ala2Thr	Mismatch binding	Neutral	French MMR network	9/07/15	30
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 109 2_02-DDM3350_11334_11334 Neutral - 2 110 2_02-DDM3350_11334_11334 Neutral - 2 111 2_02-DDM2685_18529_18529 Neutral - 2 112 2_02-DDM2685_18529_18529 Neutral - 2 219 4_NI4001_---_--- Neutral - 4 333 5_2012081_2012001091_AAG2 Neutral - 5 449 8_31408_14111965_08-10508 Neutral - 8 818 19_10032_10032-001_10032- Neutral - 19 819 19_10032_10032-002_10032- Neutral - 19 820 19_10032_10032-004_10032- Neutral - 19 821 19_10032_10032-006_10032- Neutral - 19 2404 SO_-2419---G01753 Neutral - 71 2533 SO_-2419---G05437 Neutral - 71 2540 SO_-3855---G05480 Neutral - 71 2564 SO_-2419---G06024 Neutral - 71 2565 SO_-2419---G06025 Neutral - 71 2593 SO_-2419---G06418 Neutral - 71 2613 SO_-4508---G06718 Neutral - 71 2624 SO_-2419---G06935 Neutral - 71 2625 SO_-2419---G06948 Neutral - 71 2651 SO_-2419---G07269 Neutral - 71 2668 SO_-2419---G07571 Neutral - 71 2669 SO_-2419---G07572 Neutral - 71 2680 SO_-5071---G07761 Neutral - 71 2712 SO_-3855---G08157 Neutral - 71 2718 SO_-2419---G08195 Neutral - 71 2724 SO_-2419---G08252 Neutral - 71 2833 SO_-50713101G09034 Neutral - 71 2876 5_201163019924483AAF832 Neutral - 5 2877 2_02-DDM335011334200313403 Neutral - 2
213A>G	c.213A>G	1-2		p.Gly71Gly	Mismatch binding	Neutral	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2237 7_998710390E090456 Neutral - 7
252T>C	c.252T>C	2		p.Asn84Asn	Mismatch binding	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 88 2_PLP HEGP EXT99_19272_19 Neutral - 2
336C>A	c.336C>A	2		p.Ser112Ser	Mismatch binding	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 799 19_14769_14769-001_14769- Neutral - 19
339G>A	c.339G>A	2		p.Lys113Lys	Mismatch binding	Neutral	French MMR network	19/03/09	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 100 2_02-ACT2016_14895_14895 Neutral - 2 101 2_02-ACT2850_19248_19248 Neutral - 2 498 17_F09 010_502372_7120 Neutral - 17 917 20_20-1503_1503-14_5054 Neutral - 20 1770 7_37072788E041170 Neutral - 7 1864 7_-45833738E050383 Neutral - 7 2035 7_50944534E051311 Neutral - 7 2108 7_5389 (05K267)4961E06010 Neutral - 7 2166 7_5451 (F585)5295E060597 Neutral - 7 2233 7_994010348E090370 Neutral - 7 2234 7_994010348E090370 Neutral - 7 3162 19_2587025870-00125870-001 Neutral - 19
380A>G	c.380A>G	3		p.Asn127Ser	Connector	Neutral	French MMR network	29/11/06	23
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 105 2_02-ACT1936_14831_14831 Neutral - 2 106 2_PLP-HEGP EXT53_15561_15 Neutral - 2 107 2_02-ACT3108_16165_16165 Neutral - 2 108 2_02-DDM2676_18508_18508 Neutral - 2 331 5_2009386_20094381_AAD774 Neutral - 5 1025 31_H143_H143_1_H143_1_A Neutral - 31 1026 31_H151_H151_1_H151_1_A Neutral - 31 1027 31_H9_H9_1_H9_1_A Neutral - 31 1721 7_-5820---E041003 Neutral - 7 1725 7_-58203009E041003 Neutral - 7 1910 7_-59624002E050594 Neutral - 7 2065 7_-61394786E051512 Neutral - 7 2118 7_-61814987E060133 Neutral - 7 2174 7_5616 (F600)5340E060640 Neutral - 7 2445 SO_-2682---G02826 Neutral - 71 2618 SO_-4556---G06808 Neutral - 71 2619 SO_-4075---G06838 Neutral - 71 2629 SO_-4654---G07000 Neutral - 71 2731 SO_-5440---G08310 Neutral - 71 2735 SO_-54403899G08310 Neutral - 71 2888 19_1759417594.00117594.001 Neutral - 19 2910 19_2413024130.00124130.001 Neutral - 19 3165 37_P08.14717667677 Neutral - 37
499G>C	c.499G>C	3		p.Asp167His	Connector	Neutral	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1033 31_H209_H209_1_H209_1_A Neutral - 31 2051 7_49184715E051443 Neutral - 7 2967 8_F28276556108-338290EGS Neutral - 8
573C>T	c.573C>T	3		p.Leu191Leu	Connector	Neutral	French MMR network	16/11/06	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 116 2_02-ACT2284_15564_15564 Neutral - 2 117 2_02-ACT2375_15772_15772 Neutral - 2 118 2_02-ACT3042_19355_19355 Neutral - 2 1083 33_PSL 669__06-760 Neutral - 33 1321 37_F06.099_4093_--- Neutral - 37 2240 7_1049910944E091207 Neutral - 7 3173 17_120891017231001--- Neutral - 17
756G>T	c.756G>T	4		p.Gln252His	Connector	Neutral	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2486 SO_-3200---G03554 Neutral - 71
815C>T	c.815C>T	5		p.Ala272Val	EXO1 stabilization	Neutral	French MMR network	22/09/09	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 235 4_Gr2005-12_18342_1335 Neutral - 4 1045 31_H126_H126_1_H126_1_A Neutral - 31 1046 31_H98_H98_1_H98_1_A Neutral - 31 1047 31_H98_H98_2_H98_2_A Neutral - 31 1048 31_H98_H98_4_H98_4_A Neutral - 31 1049 31_H98_H98_6_H98_6_A Neutral - 31 1050 31_H98_H98_7_H98_7_A Neutral - 31 1085 33_PSL 252__05-354 Neutral - 33 1331 37_L09.038_9519_83445 Neutral - 37 1545 7_12901527E03264 Neutral - 7 2583 SO_-4252---G06263 Neutral - 71
832G>A	c.832G>A	5		p.Glu278Lys	EXO1 stabilization	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 127 2_02-DDM3432_20457_20457 Neutral - 2
843A>T	c.843A>T	5		p.Ser281Ser	EXO1 stabilization	Neutral	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1051 31_H1203_H1203-1_H1203-1A Neutral - 31 2973 41_HNPCC390HNPCC390001 Neutral - 41 3183 17_131637817617001--- Neutral - 17
965G>A	c.965G>A	6		p.Gly322Asp	Lever	Neutral	French MMR network	31/01/07	46
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3197 37_L14.112-E27789160133 Neutral - 37 134 2_02-ACT1732_13833_13833 Neutral - 2 345 5_2003205_P0024099_AAA322 Neutral - 5 346 5_2004214_20042277_AAA342 Neutral - 5 347 5_2005126_P0028209_AAA743 Neutral - 5 348 5_2008178_20081746_AAC468 Neutral - 5 349 5_2008335_20083639_AAC712 Neutral - 5 350 5_2008412_20080544_AAC855 Neutral - 5 351 5_2009263_20092863_AAD397 Neutral - 5 352 5_2009490_20082277_AAD773 Neutral - 5 353 5_2004214_20105731_AAE705 Neutral - 5 354 5_2010625_P0045640_AAE780 Neutral - 5 487 14_F1234_06C497_06C497 Neutral - 14 925 20_20-1945_1945-02_6867 Neutral - 20 926 20_20-3135_3135-01_12512 Neutral - 20 927 20_20-1273_1273-01_--- Neutral - 20 1056 31_H122_H122_1_H122_1_A Neutral - 31 1057 31_H122_H122_2_H122_2_A Neutral - 31 1058 31_H125_H125_1_H125_1_A Neutral - 31 1059 31_H76_H76_1_H76_1_A Neutral - 31 1060 31_H77_H77_1_H77_1_A Neutral - 31 1481 7_2637644E02055 Neutral - 7 1528 7_26371441E03122 Neutral - 7 1540 7_2637644E03220 Neutral - 7 1548 7_23981581E03272 Neutral - 7 1552 7_23981582E03273 Neutral - 7 1553 7_23981582E03273 Neutral - 7 1554 7_26371441E03274 Neutral - 7 1562 7_2398270E03317 Neutral - 7 1773 7_46132846E041196 Neutral - 7 1859 7_23913699E050358 Neutral - 7 1860 7_18123697E050359 Neutral - 7 2083 7_49264909E060036 Neutral - 7 2136 7_-6186---E060221 Neutral - 7 2140 7_-61865037E060221 Neutral - 7 2271 7_216456E2K083 Neutral - 7 2274 7_2391226E2K184 Neutral - 7 2281 7_1812262E2K241 Neutral - 7 2296 7_2398270E2K249 Neutral - 7 2553 SO_-3987---G05789 Neutral - 71 2646 SO_-4822---G07233 Neutral - 71 2709 SO_-5290---G08086 Neutral - 71 2757 SO_-55623187G08631 Neutral - 71 2882 37_L12.09920479132145/132146 Neutral - 37 2978 5_200938320101032AAF427 Neutral - 5 3196 37_L14.00425846153593 Neutral - 37
984C>T	c.984C>T	6		p.Ala328Ala	EXO1 stabilization	Neutral	French MMR network	31/01/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 135 2_02-SG618-IGR_1777_1777 Neutral - 2 136 2_02-ACT2008_14897_14897 Neutral - 2 2000 7_5158 (F504)4379E051061 Neutral - 7 2074 7_-61564857E051622 Neutral - 7 2369 SO_-22204089G01065 Neutral - 71 3053 19_2465724657-00124657-001 Neutral - 19
1168C>T	c.1168C>T	7		p.Leu390Phe	EXO1 stabilization	Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 15 2_02-DDM3126_19590_19590 Neutral - 2 159 4_98H04_---_100 Neutral - 4
1275A>G	c.1275A>G	7		p.Glu425Glu	EXO1 stabilization	Neutral	French MMR network	9/07/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 408 8_41581_31121938_08-14429 Neutral - 8 409 8_44254_78261_08-790121EG Neutral - 8 490 17_F09 176_902504_7272 Neutral - 17 2070 7_-61614869E051621 Neutral - 7 2549 SO_-3960---G05754 Neutral - 71
1488A>G	c.1488A>G	9		p.Leu496Leu	EXO1 stabilization	Neutral	French MMR network	19/03/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1686 7_4358 (04066 CAL)2614E04 Neutral - 7 2690 SO_-5158---G07855 Neutral - 71
1602T>A	c.1602T>A	10		p.Arg534Arg	EXO1 stabilization	Neutral	French MMR network	19/03/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2637 SO_-4691---G07081 Neutral - 71
1617T>C	c.1617T>C	10		p.Phe539Phe	EXO1 stabilization	Neutral	French MMR network	4/08/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 902 20_20-1530_1530-23_--- Neutral - 20
1666T>C	c.1666T>C	11		p.Leu556Leu	EXO1 stabilization	Neutral	French MMR network	12/06/07	27
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 45 2_02-SG63-IGR ACT2336_387 Neutral - 2 46 2_02-SG567-IGR NJ274_1531 Neutral - 2 47 2_02-ACT2593_1804_1804 Neutral - 2 279 5_2005276_P0029240_AAA942 Neutral - 5 280 5_2008111_20081098_AAC387 Neutral - 5 281 5_2010191_20101808_AAE130 Neutral - 5 493 17_Paris - F08694_5001158 Neutral - 17 713 19_11458_11458-001_11458- Neutral - 19 903 20_20-1517_1517-01_4856 Neutral - 20 904 20_20-3135_3135-01_12512 Neutral - 20 1216 37_L12.037_19051_127234 Neutral - 37 1217 37_L12.039_15714_127467-1 Neutral - 37 1487 7_2827686E02122 Neutral - 7 1499 7_27531094E02336 Neutral - 7 1511 7_6981248E02380 Neutral - 7 1517 7_2694556E03013 Neutral - 7 1520 7_31161373E03038 Neutral - 7 1630 7_4077 (0403801)2212E0404 Neutral - 7 1632 7_4152 (04K220)2317E04048 Neutral - 7 1738 7_-58102971E041029 Neutral - 7 1761 7_45832763E041131 Neutral - 7 1966 7_-60024224E050859 Neutral - 7 2674 SO_-5060---G07712 Neutral - 71 2707 SO_-5277---G08050 Neutral - 71 2817 SO_-57023272G08959 Neutral - 71 2855 5_20121662012002082AAG467 Neutral - 5 3100 17_130858516716001--- Neutral - 17
1680T>C	c.1680T>C	11		p.Asn560Asn	EXO1 stabilization	Neutral	French MMR network	12/06/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 49 2_02-ACT2046_14960_14960 Neutral - 2 716 19_8121_8121-001_8121-001 Neutral - 19 988 31_H339_H339-1_H339-1A Neutral - 31 2452 SO_-3046---G03085 Neutral - 71 2856 37_L12.04819236127678 Neutral - 37 2944 8_438327626508-269211EGS Neutral - 8
1737A>G	c.1737A>G	11		p.Lys579Lys	EXO1 stabilization	Neutral	French MMR network	13/05/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 52 2_02-DDM3553_20796_20796 Neutral - 2 1069 33_PSL 163__05-062 Neutral - 33 1070 33_PSL 453__06-212 Neutral - 33 1218 37_L06.53-E_4555_119660/1 Neutral - 37 2554 SO_-4001---G05800 Neutral - 71 2568 SO_-4100---G06037 Neutral - 71
1761C>G	c.1761C>G	11-12		p.Gly587Gly	EXO1 stabilization	Neutral	French MMR network	26/03/12	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 288 5_2008093_20080939_AAC363 Neutral - 5 289 5_2008093_20080939_AAC363 Neutral - 5
2061C>G	c.2061C>G	13		p.Leu687Leu	ATPase	Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 436 8_42084_8101922_08-469190 Neutral - 8 1246 37_L02.10_1172_7275 Neutral - 37
2154A>G	c.2154A>G	13		p.Gln718Gln	ATPase	Neutral	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 912 20_20-1195_1195-05_--- Neutral - 20
2400A>G	c.2400A>G	14		p.Leu800Leu	ATPase	Neutral	French MMR network	5/08/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1284 37_L08.044_6916_65455 Neutral - 37
2430C>G	c.2430C>G	14		p.Thr810Thr	ATPase	Neutral	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3139 37_L13.13816818147896 Neutral - 37
2766T>C	c.2766T>C	16		p.Phe922Phe	MSH3/MSH6 interaction	Neutral	French MMR network	25/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 98 2_02-DDM2958_19183_19183 Neutral - 2 2633 SO_-4726---G07064 Neutral - 71 2654 SO_-4866---G07330 Neutral - 71 3161 17_120891017231001--- Neutral - 17
2801C>T	c.2801C>T	16		p.Thr934Met	MSH3/MSH6 interaction	Neutral	French MMR network	25/06/07	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 915 20_20-1806_1806-04_6176 Neutral - 20 1899 7_-5945---E050593 Neutral - 7 1904 7_-59453982E050593 Neutral - 7 1960 7_5008 (F501)4169E050819 Neutral - 7 2378 SO_-568---G01463 Neutral - 71