The UMD-MSH2 mutations database
Mutations involving exon 16

    Request ID: 11598064153

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1_2805del	c.1_2805del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 140 4_H-01H12_18942_1105 Causal - 4 141 4_B0409_18028_1583 Causal - 4 551 19_12103_12103-001_12103- Causal - 19 552 19_12103_12103-002_12103- Causal - 19 553 19_8835_8835-001_8835-001 Causal - 19 554 19_8835_8835-002_8835-002 Causal - 19 555 19_8835_8835-003_8835-003 Causal - 19 1100 37_L05.02_2367_29894 Causal - 37
793_2805del	c.793_2805del	5		p.Ala266LysfsX11	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1322 37_L08.022-E_6099_65379 Causal - 37
1077_2805del	c.1077_2805del	6-7			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 248 5_2007248_P0033498_AAB854 Causal - 5
1277_2805del	c.1277_2805del	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 660 19_8387_8387-001_8387-001 Causal - 19 661 19_8387_8387-003_8387-003 Causal - 19 662 19_8387_8387-005_8387-005 Causal - 19
1387_2805del	c.1387_2805del	9		p.Glu464ArgfsX9	EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 168 4_C99101_18096_914 Causal - 4 169 4_T04157_18211_1226 Causal - 4 170 4_9348_23748_2969 Causal - 4 683 19_8237_8237-001_8237-001 Causal - 19 684 19_8237_8237-003_8237-003 Causal - 19 685 19_9639_9639-001_9639-001 Causal - 19 686 19_9639_9639-002_9639-002 Causal - 19
1662_2805del	c.1662_2805del	10-11		p.Ser554_Met592delinsArg	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 178 4_JCS1001_24139_2970 Causal - 4 711 19_4146_4146-001_4146-001 Causal - 19 712 19_4146_4146-003_4146-003 Causal - 19 3005 8_461238692608-083131EGS Causal - 8
2635_2805del	c.2635_2805del	16		p.Gln879LysfsX7	MSH3/MSH6 interaction	Causal	French MMR network	22/06/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3148 37_L12.14425258151172 Causal - 37 3149 37_L12.14425273151238 Causal - 37 3150 37_L12.14427833160244 Causal - 37
2641delG	c.2641delG	16		p.Glu881LysfsX11	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1022 31_H498_H498-1_H498-1A Causal - 31
2647dup	c.2647dup	16		p.Ile883AsnfsX16	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 95 2_02-DDM6020_24617_24617 Causal - 2 213 4_Gr2006-141_19318_1682 Causal - 4 1294 37_L03.37_1939_19325 Causal - 37 1463 7_444453E01139 Causal - 7 1573 7_35161651E03392 Causal - 7 2544 SO_-3911---G05531 Causal - 71 2650 SO_-3911---G07268 Causal - 71 2653 SO_-3911---G07305 Causal - 71 2681 SO_-3911---G07780 Causal - 71 2688 SO_-3911---G07831 Causal - 71 2689 SO_-3911---G07842 Causal - 71 2696 SO_-3911---G07921 Causal - 71 2773 SO_-3911---G08783 Causal - 71 2828 SO_-3911---G09021 Causal - 71 3154 4_13067305334509 Causal - 4
2649_2654del	c.2649_2654del	16		p.Ile883_Gln885delinsMet	MSH3/MSH6 interaction	Causal	French MMR network	28/01/13	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 96 2_02-ACT2836_18901_18901 Causal - 2 97 2_02-ACT2836_18901_18901 Causal - 2 3035 2_02-ACT283639226214118445 Causal - 2 3036 2_02-ACT283639858214175421 Causal - 2 3037 2_02-ACT283639859214175423 Causal - 2
2651T>G	c.2651T>G	16		p.Ile884Ser	MSH3/MSH6 interaction	Likely Causal	French MMR network	4/08/10	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 326 5_1999066_19990534_--- Likely Causal - 5 1295 37_L08.056_5250_67444 Likely Causal - 37 1296 37_L08.056_10412_90464 Likely Causal - 37 2438 SO_-2779---G02621 Likely Causal - 71 2711 SO_-5328---G08119 Likely Causal - 71
2656G>A	c.2656G>A	16		p.Glu886Lys	MSH3/MSH6 interaction	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2873 2_02-DDM978032693212226442 UV - 2
2662C>T	c.2662C>T	16		p.Leu888Leu	MSH3/MSH6 interaction	Likely Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 327 5_2008333_20083604_AAC704 Likely Neutral - 5 2576 SO_-4181---G06210 Likely Neutral - 71
2662delC	c.2662delC	16		p.Leu888CysfsX4	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 214 4_C00034_---_415 Causal - 4 1023 31_H664_H664-1_H664-1A Causal - 31 3038 19_2645826458.00126458.001 Causal - 19 3054 31_H1720H1720-1H1720-1A Causal - 31 3157 19_2645826458-00226458-002 Causal - 19 3158 19_2645826458-00426458-004 Causal - 19 3159 19_2645826458-00326458-003 Causal - 19
2681T>C	c.2681T>C	16		p.Met894Thr	MSH3/MSH6 interaction	UV	French MMR network	22/05/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2916 19_2361623616.00123616.001 UV - 19 3160 5_201401420094561AAI636 UV - 5
2681T>G	c.2681T>G	16		p.Met894Arg	MSH3/MSH6 interaction	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 378 6_608272_B66650_S7840 UV - 6
2714C>T	c.2714C>T	16		p.Thr905Ile	MSH3/MSH6 interaction	UV	French MMR network	16/12/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3058 41_HNPCC383HNPCC383001 UV - 41
2728C>A	c.2728C>A	16		p.Gln910Lys	MSH3/MSH6 interaction	UV	French MMR network	21/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 328 5_2009236_20092612_AAD369 UV - 5
2739T>C	c.2739T>C	16		p.Ala913Ala	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2679 SO_-5070---G07760 UV - 71
2740G>T	c.2740G>T	16		p.Glu914X	MSH3/MSH6 interaction	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3250 8_473919301708-536041 Causal - 8
2752A>T	c.2752A>T	16		p.Lys918X	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 215 4_H-JCS0206_17085_765 Causal - 4
2756A>G	c.2756A>G	16		p.Asn919Ser	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1449 7_1793405E01058 UV - 7 2519 SO_1793---G05097 UV - 71
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
2766T>G	c.2766T>G	16		p.Phe922Leu	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1522 7_2959858E03057 UV - 7
2777T>A	c.2777T>A	16		p.Ile926Asn	MSH3/MSH6 interaction	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2874 31_H1542H1542-1H1542-1A UV - 31
2785C>T	c.2785C>T	16		p.Arg929X	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1403 41_HNPCC013_HNPCC013001_- Causal - 41 1404 41_HNPCC013_HNPCC013002_- Causal - 41 2380 SO_-621---G01476 Causal - 71 2386 SO_-621---G01533 Causal - 71 2387 SO_-621---G01534 Causal - 71 2388 SO_-621---G01535 Causal - 71 2389 SO_-621---G01536 Causal - 71 2390 SO_-621---G01537 Causal - 71 2495 SO_-3503---G03952 Causal - 71
2801C>A	c.2801C>A	16		p.Thr934Lys	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2024 7_-60814447E051175 UV - 7
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
2802G>A	c.2802G>A	16		p.Thr934Thr	MSH3/MSH6 interaction	UV	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2961 41_HNPCC99HNPCC099001 UV - 41
1_2805dup	c.1_2805dup			p.Stop935_936ins934AA		Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 556 19_13098_13098-001_13098- Causal - 19