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

    Request ID: 521540173835

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
484G>A	c.484G>A	3		p.Gly162Arg	Connector	Likely Causal	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 218 4_JCS0618_19428_1860 Likely Causal - 4
518T>G	c.518T>G	3		p.Leu173Arg	Connector	Likely Causal	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1320 37_L09.038_9519_83445 Likely Causal - 37
1046C>A	c.1046C>A	6		p.Pro349His	EXO1 stabilization	Likely Causal	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2219 7_77417900E071477 Likely Causal - 7 3203 2_02-PKO1307141816214353433 Likely Causal - 2
1067T>A	c.1067T>A	6		p.Ile356Lys	EXO1 stabilization	Likely Causal	French MMR network	9/07/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1167 37_L04.30_4487_46663 Likely Causal - 37 1168 37_L04.30_6276_60016 Likely Causal - 37 1169 37_L04.30_10160_85900 Likely Causal - 37 1170 37_L04.30_6276_--- Likely Causal - 37 2845 37_L04.3010161146401 Likely Causal - 37
1571G>A	c.1571G>A	10		p.Arg524His	EXO1 stabilization	Likely Causal	French MMR network	28/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 418 8_35760_9111941_08-242160 Likely Causal - 8 419 8_NANCY_35760_09111941 (8 Likely Causal - 8
1823T>C	c.1823T>C	12		p.Phe608Ser	EXO1 interaction	Likely Causal	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3061 4_JCS1216284774103 Likely Causal - 4
2005G>T	c.2005G>T	12-13		p.Gly669Cys	ATP binding	Likely Causal	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3116 16148_16148-00116148-001 Likely Causal - 19
2006G>T	c.2006G>T	12-13		p.Gly669Val	ATP binding	Likely Causal	French MMR network	9/07/15	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3238 19_2567725677-00125677-001 Likely Causal - 19 495 17_F06091_5880_--- Likely Causal - 17 754 19_16151_16151-001_16151- Likely Causal - 19 1243 37_L07.15-E_5475_53667 Likely Causal - 37 2949 19_L07.15-E547553667 Likely Causal - 19 3021 19_2488424884-00124884-001 Likely Causal - 19 3119 19_2492224922-00124922-001 Likely Causal - 19 3120 19_2488424884-00224884-002 Likely Causal - 19
2023A>G	c.2023A>G	13		p.Lys675Glu	ATP binding	Likely Causal	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3121 21795_21795-00121795-001 Likely Causal - 19
2074G>T	c.2074G>T	13		p.Gly692Trp	ATPase	Likely Causal	French MMR network	28/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1247 37_F06.068_4212_45625 Likely Causal - 37 1248 37_F06.068_6347_--- Likely Causal - 37
2075G>A	c.2075G>A	13		p.Gly692Glu	ATPase	Likely Causal	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 68 2_02-ACT3084_19426_19426 Likely Causal - 2
2087C>T	c.2087C>T	13		p.Pro696Leu	ATPase	Likely Causal	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 911 20_20-3124_3124-01_12479 Likely Causal - 20 2330 SO_-1001---G00329 Likely Causal - 71 3227 19_2762327623-00127623-001 Likely Causal - 19
2106_2135del	c.2106_2135del	13		p.Ser703_Val712del	ATPase	Likely Causal	French MMR network	9/07/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 71 2_PLP-HEGP EXT57_15605_15 Likely Causal - 2 1397 41_HNPCC109_HNPCC109001_- Likely Causal - 41
2242G>T	c.2242G>T	14		p.Asp748Tyr	ATPase	Likely Causal	French MMR network	9/07/15	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 83 2_02-DDM3617_20922_20922 Likely Causal - 2 204 4_JCS0912_22412_2680 Likely Causal - 4 440 8_41454_7091953_08-303290 Likely Causal - 8 1079 33_PSL 483__07-163 Likely Causal - 33 3127 19_2431724317-00124317-001 Likely Causal - 19 3226 4_SE1501356685432 Likely Causal - 4
2633A>G	c.2633A>G	15		p.Glu878Gly	MSH3/MSH6 interaction	Likely Causal	French MMR network	13/12/11	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2980 7_68729775E112045 Likely Causal - 7 2979 7_68726927E070316 Likely Causal - 71 2981 7_68729856E090617 Likely Causal - 7
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