The UMD-MSH2 mutations database
Leu to Leu mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu191Leu	c.573C>T	3	191	Connector		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 116 2_02-ACT2284_15564_15564 - 2 117 2_02-ACT2375_15772_15772 - 2 118 2_02-ACT3042_19355_19355 - 2 1083 33_PSL 669__06-760 - 33 1321 37_F06.099_4093_--- - 37 2240 7_1049910944E091207 - 7 3173 17_120891017231001--- - 17
p.Leu201Leu	c.601T>C	3	201	Connector		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2599 SO_-4410---G06526 - 71
p.Leu213Leu	c.639G>A	3	213	Connector		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2548 SO_-3901---G05563 - 71
p.Leu350Leu	c.1050C>T	6	350	Lever		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3234 19_2856428564-00128564-001 - 19
p.Leu496Leu	c.1488A>G	9	496	EXO1 stabilization		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1686 7_4358 (04066 CAL)2614E04 - 7 2690 SO_-5158---G07855 - 71
p.Leu556Leu	c.1666T>C	11	556	EXO1 stabilization		Small rearrangement	Ts	T->C	27
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 45 2_02-SG63-IGR ACT2336_387 - 2 46 2_02-SG567-IGR NJ274_1531 - 2 47 2_02-ACT2593_1804_1804 - 2 279 5_2005276_P0029240_AAA942 - 5 280 5_2008111_20081098_AAC387 - 5 281 5_2010191_20101808_AAE130 - 5 493 17_Paris - F08694_5001158 - 17 713 19_11458_11458-001_11458- - 19 903 20_20-1517_1517-01_4856 - 20 904 20_20-3135_3135-01_12512 - 20 1216 37_L12.037_19051_127234 - 37 1217 37_L12.039_15714_127467-1 - 37 1487 7_2827686E02122 - 7 1499 7_27531094E02336 - 7 1511 7_6981248E02380 - 7 1517 7_2694556E03013 - 7 1520 7_31161373E03038 - 7 1630 7_4077 (0403801)2212E0404 - 7 1632 7_4152 (04K220)2317E04048 - 7 1738 7_-58102971E041029 - 7 1761 7_45832763E041131 - 7 1966 7_-60024224E050859 - 7 2674 SO_-5060---G07712 - 71 2707 SO_-5277---G08050 - 71 2817 SO_-57023272G08959 - 71 2855 5_20121662012002082AAG467 - 5 3100 17_130858516716001--- - 17
p.Leu687Leu	c.2061C>G	13	687	ATPase		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 436 8_42084_8101922_08-469190 - 8 1246 37_L02.10_1172_7275 - 37
p.Leu800Leu	c.2400A>G	14	800	ATPase		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1284 37_L08.044_6916_65455 - 37
p.Leu814Leu	c.2442T>C	14	814	ATPase		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 442 8_44224_78075_08-797021EG - 8
p.Leu888Leu	c.2662C>T	16	888	MSH3/MSH6 interaction		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 327 5_2008333_20083604_AAC704 - 5 2576 SO_-4181---G06210 - 71