The UMD-MSH2 mutations database
Glu to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu56X	c.166G>T	1	56	Mismatch binding		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 48 2_02-ACT1050bis_14703_147 - 2 282 5_2010004_P0040956_AAD852 - 5
p.Glu132X	c.394G>T	3	132	Connector		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2406 SO_-2422---G01765 - 71
p.Glu177X	c.529G>T	3	177	Connector		Small rearrangement	Tv	G->T	14
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 114 2_02-ACT2088_11322_11322 - 2 222 4_CH0801_21420_2314/2367 - 4 336 5_2001172_---_--- - 5 382 6_604061_19874805_--- - 6 1034 31_H117_H117_1_H117_1_A - 31 1035 31_H117_H117_2_H117_2_A - 31 1036 31_H117_H117-6_H117-6A - 31 1037 31_H678_H678-1_H678-1A - 31 1769 7_4602 (F432)2782E041148 - 7 2149 7_4602 (F432 ISC)5108E060 - 7 2551 SO_-3968---G05766 - 71 2759 SO_-5573---G08704 - 71 2968 5_201139220113259AAF472 - 5 2969 31_H117H117-4H117-4A - 31
p.Glu198X	c.592G>T	3	198	Connector		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2033 7_-6065---E051239 - 7 2034 7_-60654505E051239 - 7
p.Glu357X	c.1069G>T	6	357	EXO1 stabilization		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2425 SO_-2597---G02192 - 71 2440 SO_-2597---G02670 - 71
p.Glu452X	c.1354G>T	8	452	EXO1 stabilization		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1066 33_TNN 227__03-807 - 33 2560 SO_-4068---G05955 - 71
p.Glu483X	c.1447G>T	9	483	EXO1 stabilization		Small rearrangement	Tv	G->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 692 19_7894_7894-001_7894-001 - 19 693 19_7894_7894-002_7894-002 - 19 2381 SO_-643---G01488 - 71 2448 SO_-643---G02894 - 71
p.Glu698X	c.2092G>T	13	698	ATPase		Small rearrangement	Tv	G->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 762 19_1254_1254-001_1254-001 - 19 763 19_1254_1254-002_1254-002 - 19 1483 7_2287309E02072 - 7 2415 SO_-2511---G01991 - 71 2457 SO_-2511---G03189 - 71 2487 SO_-2511---G03572 - 71 2507 SO_-2511---G04947 - 71 2558 SO_-2511---G05910 - 71 2569 SO_-4124---G06056 - 71 2602 SO_-2511---G06552 - 71 2760 SO_-2511---G08707 - 71 2834 SO_-25113100G09036 - 71
p.Glu852X	c.2554G>T	15	852	ATPase		Small rearrangement	Tv	G->T	15
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 2_02-ACT2025_12641_12641 - 2 1285 37_L09.053_9892_84539 - 37 1286 37_L09.053_9892_98386 - 37 1287 37_L09.053_12425_102368 - 37 1288 37_L09.053_13674_102995 - 37 1289 37_L09.053_16696_115844 - 37 1290 37_L09.053_16696_127887 - 37 1291 37_L09.053_19886_129975 - 37 1292 37_L09.053_19886_131306 - 37 1293 37_L12.056_19432_128409/1 - 37 2867 37_L09.05322523140150 - 37 2868 37_L09.05322521140156 - 37 3142 37_L09.05322429--- - 37 3143 37_L12.05625695152914 - 37 3144 37_L14.08024709158108 - 37
p.Glu914X	c.2740G>T	16	914	MSH3/MSH6 interaction		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3250 8_473919301708-536041 - 8