The UMD-MSH2 mutations database
Gln to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln61X	c.181C>T	1	61	Mismatch binding		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 365 6_609247_B00067893_S0570 - 6 738 19_11328_11328-001_11328- - 19 739 19_11328_11328-002_11328- - 19 1357 38_29_P_129 - 38 1358 38_29_ANA_130 - 38 1359 38_849_---_1795 - 38 3225 4_Va312357475417 - 4
p.Gln76X	c.226C>T	2	76	Mismatch binding		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 373 6_603018_200500499_S3554 - 6 441 8_3624_17021957_08-107270 - 8 1880 7_-4863---E050538 - 7 1881 7_-48633928E050538 - 7 2656 SO_-4863---G07333 - 71 2831 SO_-48633104G09029 - 71
p.Gln130X	c.388C>T	3	130	Connector		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 381 6_610113_B68566_S9442 - 6 2964 4_CH1009250863219 - 4 2965 8_443967918908-646021EGS - 8
p.Gln160X	c.478C>T	3	160	Connector		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 816 19_14319_14319-001_14319- - 19 817 19_14319_14319-002_14319- - 19 1405 41_HNPCC060_HNPCC060001_- - 41 2609 SO_-4461---G06658 - 71 2616 SO_-4461---G06751 - 71
p.Gln170X	c.508C>T	3	170	Connector		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 220 4_CF1131_---_--- - 4 450 8_35692_B053099_v - 8 451 8_35692_B053510_35186 - 8 452 8_34479_82871_08-530021OR - 8 453 8_34479_9101990_08-822280 - 8 454 8_34479_4051966_08-922280 - 8
p.Gln183X	c.547C>T	3	183	Connector		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3252 8_479399216108-758141 - 8
p.Gln215X	c.643C>T	3	215	Connector		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3218 20_20-43654365-01--- - 20
p.Gln252X	c.754C>T	4	252	Connector		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 233 4_SE0910_23721_2867 - 4 854 19_16082_16082-001_16082- - 19
p.Gln264X	c.790C>T	4	264	EXO1 stabilization		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3175 19_3046430464-00130464-001 - 19 3176 37_L13.171-E25252151164 - 37 3177 4_JCS1312309434600 - 4
p.Gln288X	c.862C>T	5	288	EXO1 stabilization		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3184 17_140106218871001--- - 17
p.Gln314X	c.940C>T	5	314	EXO1 stabilization		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 6_606216_200604864_S6620 - 6 3049 31_H1593H1593-1H1593-1A - 31
p.Gln324X	c.970C>T	6	324	EXO1 stabilization		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 892 19_11134_11134-001_11134- - 19 1809 7_-2515---E050131 - 7 1810 7_-25153317E050131 - 7 2416 SO_-2515---G01996 - 71 2417 SO_-2515---G01997 - 71 2418 SO_-2515---G02001 - 71 2466 SO_-2515---G03246 - 71 2476 SO_-2515---G03410 - 71 2630 SO_-4670---G07010 - 71 3052 5_2013240AAH587 - 5 3198 4_JCS1224293554272 - 4
p.Gln337X	c.1009C>T	6	337	EXO1 stabilization		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2484 SO_-3269---G03543 - 71
p.Gln344X	c.1030C>T	6	344	EXO1 stabilization		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 4_C05129_18685_1449 - 4 151 4_H06129_19833_1855 - 4 948 31_H45_H45_1_H45_1_A - 31 949 31_H45_H45_11_H45_11_A - 31 950 31_H45_H45_2_H45_2_A - 31 951 31_H45_H45_4_H45_4_A - 31 952 31_H45_H45_5_H45_5_A - 31 953 31_H45_H45_6_H45_6_A - 31 954 31_H45_H45-17_H45-17A - 31 955 31_H45_H45-18_H45-18A - 31 2666 SO_-4150---G07549 - 71 2682 SO_-4150---G07793 - 71 2683 SO_-4150---G07794 - 71 2737 SO_-4150---G08329 - 71 2752 SO_-5518---G08539 - 71 2837 SO_-4150---GB6117 - 71
p.Gln395X	c.1183C>T	7	395	MSH3/MSH6 interaction		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3086 19_2663926639-00126639-001 - 19 3204 2_02-OCN1338542933215079443 - 2
p.Gln397X	c.1189C>T	7	397	EXO1 stabilization		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 262 5_2003066_20031389_--- - 5 263 5_2003066_20044191_AAA518 - 5 1369 41_HNPCC062_HNPCC062001_- - 41 2704 SO_-5227---G07945 - 71
p.Gln402X	c.1204C>T	7	402	EXO1 stabilization		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1198 37_L05.10_5124_50923 - 37 1199 37_L05.13-E_6676_63605 - 37 1200 37_L08.086-E_7617_71125 - 37 1201 37_L05.10_3073_32970/3297 - 37
p.Gln409X	c.1225C>T	7	409	EXO1 stabilization		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2385 SO_-868---G01523 - 71
p.Gln419X	c.1255C>T	7	419	EXO1 stabilization		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1441 7_-1011C010121 - 7 2993 2_02-OCN716231198212065435 - 2
p.Gln451X	c.1351C>T	8	451	EXO1 stabilization		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2454 SO_-1237---G03130 - 71
p.Gln510X	c.1528C>T	10	510	EXO1 stabilization		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 696 19_7803_7803-001_7803-001 - 19 697 19_7803_7803-002_7803-002 - 19 698 19_7803_7803-003_7803-003 - 19 699 19_7803_7803-004_7803-004 - 19
p.Gln545X	c.1633C>T	10	545	EXO1 stabilization		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2432 SO_-2697---G02435 - 71 2437 SO_-2697---G02587 - 71
p.Gln593X	c.1777C>T	12	593	EXO1 stabilization		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1382 41_HNPCC080_HNPCC080002_- - 41 2316 SO_-5060---G00020 - 71 2317 SO_-50603673G00020 - 71 2675 SO_-5060---G07712 - 71 2795 SO_-5060---G08852 - 71
p.Gln662X	c.1984C>T	12	662	ATPase		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2320 SO_-1711---G00179 - 71 2443 SO_-1711---G02730 - 71
p.Gln681X	c.2041C>T	13	681	ATP binding		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2424 SO_-2611---G02187 - 71 2469 SO_-2611---G03288 - 71 2470 SO_-2611---G03289 - 71 2471 SO_-2611---G03290 - 71 2750 SO_-2611---G08531 - 71
p.Gln718X	c.2152C>T	13	718	ATPase		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 78 2_02-DDM6217_26383_26383 - 2 315 5_2002201_20024934_--- - 5 768 19_13338_13338-001_13338- - 19 1398 41_HNPCC079_HNPCC079001_- - 41 2526 SO_-3839---G05384 - 71 2601 SO_-3839---G06533 - 71 3125 19_2723427234-00127234-001 - 19
p.Gln816X	c.2446C>T	14	816	ATPase		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 319 5_2010127_20101281_AAE050 - 5 2409 SO_-2473---G01858 - 71
p.Gln846X	c.2536C>T	15	846	ATPase		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 89 2_02-SG63-IGR ACT2336_387 - 2 90 2_02-ACT2508_1188_1188 - 2 1754 7_-5814---E041036 - 7 1757 7_-58142980E041036 - 7 2537 SO_-3954---G05457 - 71
p.Gln861X	c.2581C>T	15	861	Helix-turn-helix		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 212 4_C94078/94H13_---_--- - 4 376 6_607246_B64543_S5717 - 6 1835 7_-5832---E050268 - 7 2025 7_-58323021E051192 - 7 2372 SO_-2231---G01111 - 71 2911 19_2861928619.00128619.001 - 19