The UMD-MSH2 mutations database
Arg to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg359X	c.1075A>T	6-7	359	EXO1 stabilization		Small rearrangement	Tv	A->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 610 19_5500_5500-001_5500-001 - 19 611 19_5500_5500-002_5500-002 - 19 612 19_5500_5500-003_5500-003 - 19 2044 7_51944550E051333 - 7
p.Arg383X	c.1147C>T	7	383	EXO1 stabilization		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 259 5_2010264_P0042590_AAE217 - 5 899 20_20-1509_1509-01_4835 - 20 960 31_H1501_H1501-1_H1501-1A - 31 1184 37_L97.01_256_187 - 37 1185 37_L97.01_710_1322 - 37 1186 37_L08.083_6673_72114 - 37 1187 37_L08.083_9598_81966 - 37 1188 37_L08.083_9599_81967 - 37 1189 37_L08.083_9602_81968 - 37 1190 37_L08.083_10291_86892 - 37 1574 7_34791660E03393 - 7 2361 SO_-2150---G00931 - 71 2628 SO_-4662---G06988 - 71 2642 SO_-4773---G07176 - 71 2848 5_2011298P0047493AAH410 - 5 3085 4_SE1302304474420 - 4
p.Arg389X	c.1165C>T	7	389	EXO1 stabilization		Small rearrangement	Ts	C->T	22
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13 2_02-ACT1096_11520_11520 - 2 14 2_02-DDM4505_23242_23242 - 2 635 19_10498_10498-001_10498- - 19 1065 33_TNN 150__02-863 - 33 1191 37_L98.03_257_194 - 37 1192 37_L98.03_1021_4887 - 37 1193 37_L08.046_6829_64758 - 37 1194 37_L08.046_8723_77415 - 37 1195 37_L08.046_8725_77475 - 37 1196 37_L08.046_9237_--- - 37 1197 37_L08.046_9236_--- - 37 1356 38_589_---_1561 - 38 2324 SO_-1065---G00275 - 71 2345 SO_-1065---G00793 - 71 2347 SO_-1065---G00797 - 71 2423 SO_-2564---G02124 - 71 2464 SO_-2564---G03228 - 71 2536 SO_-3952---G05452 - 71 2829 SO_-3699---G09022 - 71 2830 SO_-36993088G09022 - 71 2849 2_02-ACT109634795213078412 - 2 2933 19_L98.0315118109330 - 19
p.Arg396X	c.1186A>T	7	396	EXO1 stabilization		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 636 19_13174_13174-001_13174- - 19
p.Arg406X	c.1216C>T	7	406	EXO1 stabilization		Small rearrangement	Ts	C->T	18
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 2_02-DDM4283_22508_22508 - 2 637 19_10440_10440-001_10440- - 19 638 19_699_699-001_699-001-1 - 19 639 19_699_699-002_699-002-1 - 19 961 31_H92_H92_1_H92_1_A - 31 962 31_H92_H92_3_H92_3_A - 31 963 31_H92_H92_4_H92_4_A - 31 1985 7_-6039---E050971 - 7 1986 7_-60394339E050971 - 7 2392 SO_-926---G01550 - 71 2482 SO_-3255---G03527 - 71 2483 SO_-3255---G03528 - 71 2504 SO_-926---G04596 - 71 2561 SO_-4064---G05971 - 71 2741 SO_-40643146G08406 - 71 2745 SO_-4064---G08491 - 71 2746 SO_-4064---G08492 - 71 2992 5_202013457AAH978 - 5
p.Arg621X	c.1861C>T	12	621	ATPase		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 485 14_N05138_05C900_05C900 - 14 1223 37_F07.158_6574_62642 - 37 1224 37_L07.76_20605_132983 - 37 1225 37_L07.76_20605_133627 - 37 1226 37_L12.079_17160_130529/1 - 37 1227 37_L06.02_3679_38916/3896 - 37 2401 SO_-2395---G01695 - 71 3107 37_L07.7625755152925 - 37 3108 37_L07.7626182154760 - 37 3109 37_L12.07928918163672 - 37
p.Arg680X	c.2038C>T	13	680	ATP binding		Small rearrangement	Ts	C->T	15
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 295 5_2007315_p0033887_AAB945 - 5 367 6_607125_B00065905_S4167 - 6 368 6_606162_20064181_S9432 - 6 369 6_606162_200604184_S9434 - 6 435 8_F765_B031444_G1-NÁ829 - 8 755 19_5206_5206-001_5206-001 - 19 756 19_5206_5206-002_5206-002 - 19 757 19_5206_5206-004_5206-004 - 19 758 19_5530_5530-001_5530-001 - 19 933 25_15094_P15094_1_ABS25 - 25 1002 31_H216_H216_1_H216_1_A - 31 1003 31_H652_H652-1_H652-1A - 31 1004 31_H880_H880-1_H880-1A - 31 1245 37_L05.03-E_2969_32155/32 - 37 1442 7_-1871C010204 - 7
p.Arg711X	c.2131C>T	13	711	ATPase		Small rearrangement	Ts	C->T	20
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3123 19_2689426894-00126894-001 - 19 314 5_2005331_P0028855_AAA866 - 5 371 6_601015_200600882_S6209 - 6 372 6_606229_200605863_S7035 - 6 767 19_7534_7534-001_7534-001 - 19 1078 33_TNN 251__03-1129 - 33 1887 7_-36903927E050548 - 7 2322 SO_-473---G00211 - 71 2352 SO_-1126---G00832 - 71 2374 SO_-2343---G01316 - 71 2383 SO_-653---G01497 - 71 2391 SO_-473---G01542 - 71 2402 SO_-1126---G01723 - 71 2441 SO_-2343---G02698 - 71 2450 SO_-2971---G02985 - 71 2479 SO_-1126---G03445 - 71 2559 SO_-1126---G05912 - 71 2592 SO_-3690---G06404 - 71 2607 SO_-1126---G06637 - 71 2623 SO_-4608---G06915 - 71
p.Arg929X	c.2785C>T	16	929	MSH3/MSH6 interaction		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1403 41_HNPCC013_HNPCC013001_- - 41 1404 41_HNPCC013_HNPCC013002_- - 41 2380 SO_-621---G01476 - 71 2386 SO_-621---G01533 - 71 2387 SO_-621---G01534 - 71 2388 SO_-621---G01535 - 71 2389 SO_-621---G01536 - 71 2390 SO_-621---G01537 - 71 2495 SO_-3503---G03952 - 71