The UMD-MSH2 mutations database
Leu to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu80GlnfsX2	c.239_240delTT	2	80	Mismatch binding		Small rearrangement	Fr.	Stop at 81	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2958 4_JCS1023251183277 - 4
p.Leu94del	c.279_281delTCT	2	93	Mismatch binding		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 99 2_02-DDM6018_24616_24616 - 2 379 6_609051_B67182_S6550 - 6 445 8_F1020_B041236_04-0796 - 8
p.Leu191del	c.571_573delCTC	3	191	Connector		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 499 17_F06119_6003_--- - 17 3172 17_130837917314001--- - 17
p.Leu213X	c.637delC	3	213	Connector		Small rearrangement	Fr.	Stop at 213	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1038 31_H459_H459-1_H459-1A - 31
p.Leu213GlnfsX18	c.638_639delTG	3	213	Connector		Small rearrangement	Fr.	Stop at 230	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 119 2_02-DDM6018_24616_24616 - 2
p.Ser271CysfsX12	c.810_811delGT	5	270	EXO1 stabilization		Small rearrangement	Fr.	Stop at 282	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 338 5_2004130_P0026391_AAA361 - 5 339 5_2008471_20083288_AAC966 - 5
p.Thr292LeufsX8	c.873_876delGACT	5	291	EXO1 stabilization		Small rearrangement	Fr.	Stop at 299	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 236 4_C00159_---_704 - 4 387 6_610045_20100621_S5475 - 6 1052 31_H700_H700-1_H700-1A - 31 1053 31_H700_H700-1_H700-1B - 31 2597 SO_-4301---G06435 - 71 2676 SO_-4301---G07735 - 71 3185 37_L13.16820557150522 - 37
p.Leu326GlyfsX6	c.976_977delCT	6	326	EXO1 stabilization		Small rearrangement	Fr.	Stop at 331	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 893 19_9442_9442-001_9442-001 - 19 894 19_9442_9442-003_9442-003 - 19 895 19_9442_9442-007_9442-007 - 19 896 19_9442_9442-008_9442-008 - 19
p.Leu350HisfsX3	c.1049_1050delTC	6	350	EXO1 stabilization		Small rearrangement	Fr.	Stop at 352	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 4_JCS0613_19343_1723 - 4
p.Leu376ThrfsX12	c.1126_1127delTT	7	376	Lever		Small rearrangement	Fr.	Stop at 387	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3224 4_CH00066357265415 - 4
p.Tyr408SerfsX8	c.1221_1222delCT	7	407	EXO1 stabilization		Small rearrangement	Fr.	Stop at 415	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 477 14_F0785_04C510_04C510 - 14
p.Leu488TrpfsX9	c.1463delT	9	488	Clamp		Small rearrangement	Fr.	Stop at 496	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3002 19_2468124681.00124681.001 - 19
p.Leu559X	c.1676delT	11	559	EXO1 stabilization		Small rearrangement	Fr.	Stop at 559	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 715 19_17215_17215-001_17215- - 19 1376 41_HNPCC036_HNPCC036001_- - 41 2011 7_-6042---E051173 - 7 2013 7_-60424485E051173 - 7 2640 SO_-4778---G07163 - 71 2943 8_F31991796608-500011BA - 8
p.Leu595MetfsX4	c.1783_1786delCTCA	12	595	EXO1 stabilization		Small rearrangement	Fr.	Stop at 598	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 14_F0880_04C324_04C324 - 14 482 14_F0775_04C501_04C501 - 14 483 14_F1112_05C910_05C910 - 14 993 31_H1427_H1427-1_H1427-1A - 31
p.Leu595X	c.1783_1787delCTCAA	12	595	EXO1 stabilization		Small rearrangement	Fr.	Stop at 595	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2612 SO_-4493---G06670 - 71 2691 SO_-4493---G07858 - 71 2726 SO_-5389---G08264 - 71
p.Leu625TrpfsX10	c.1874delT	12	625	ATPase		Small rearrangement	Fr.	Stop at 634	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 995 31_H436_H436-2_H436-2A - 31
p.Ala834LeufsX7	c.2499delT	15	833	ATPase		Small rearrangement	Fr.	Stop at 840	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 785 19_14321_14321-001_14321- - 19
p.Leu888CysfsX4	c.2662delC	16	888	MSH3/MSH6 interaction		Small rearrangement	Fr.	Stop at 891	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 214 4_C00034_---_415 - 4 1023 31_H664_H664-1_H664-1A - 31 3038 19_2645826458.00126458.001 - 19 3054 31_H1720H1720-1H1720-1A - 31 3157 19_2645826458-00226458-002 - 19 3158 19_2645826458-00426458-004 - 19 3159 19_2645826458-00326458-003 - 19