The UMD-MSH2 mutations database
Ala to Thr mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ala2Thr	c.4G>A	1	2	Mismatch binding		Small rearrangement	Ts	G->A	30
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 109 2_02-DDM3350_11334_11334 - 2 110 2_02-DDM3350_11334_11334 - 2 111 2_02-DDM2685_18529_18529 - 2 112 2_02-DDM2685_18529_18529 - 2 219 4_NI4001_---_--- - 4 333 5_2012081_2012001091_AAG2 - 5 449 8_31408_14111965_08-10508 - 8 818 19_10032_10032-001_10032- - 19 819 19_10032_10032-002_10032- - 19 820 19_10032_10032-004_10032- - 19 821 19_10032_10032-006_10032- - 19 2404 SO_-2419---G01753 - 71 2533 SO_-2419---G05437 - 71 2540 SO_-3855---G05480 - 71 2564 SO_-2419---G06024 - 71 2565 SO_-2419---G06025 - 71 2593 SO_-2419---G06418 - 71 2613 SO_-4508---G06718 - 71 2624 SO_-2419---G06935 - 71 2625 SO_-2419---G06948 - 71 2651 SO_-2419---G07269 - 71 2668 SO_-2419---G07571 - 71 2669 SO_-2419---G07572 - 71 2680 SO_-5071---G07761 - 71 2712 SO_-3855---G08157 - 71 2718 SO_-2419---G08195 - 71 2724 SO_-2419---G08252 - 71 2833 SO_-50713101G09034 - 71 2876 5_201163019924483AAF832 - 5 2877 2_02-DDM335011334200313403 - 2
p.Ala50Thr	c.148G>A	1	50	Mismatch binding		Small rearrangement	Ts	G->A	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1639 7_42812412E040559 - 7 1641 7_42822413E040560 - 7 1655 7_43632498E040638 - 7 1657 7_20702505E040640 - 7 2282 7_1840263E2K242 - 7 2285 7_1841264E2K243 - 7 2288 7_1870265E2K244 - 7 2289 7_1568266E2K245 - 7 2298 7_1005283E2K266 - 7
p.Ala53Thr	c.157G>A	1	53	Mismatch binding		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1518 7_31161373E03038 - 7 1600 7_37011828E040033 - 7 1623 7_40352204E040427 - 7 2308 7_1141293E2K275 - 7
p.Ala305Thr	c.913G>A	5	305	Lever		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3233 19_2746127461-00127461-001 - 19