The UMD-MSH2 mutations database
Leu to Insertion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu280PhefsX4	c.839dup	5	280	EXO1 stabilization		Small rearrangement		Stop at 283	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3182 19_2780027800-00127800-001 - 19 128 2_02-SG101-Cochin_431_431 - 2 1364 38_780_ANA1_2069 - 38 1365 38_780_ANA2_2233 - 38 1366 38_780_ANA3_2234 - 38 1681 7_39972548E040716 - 7 2161 7_39975195E060423 - 7
p.Leu469ArgfsX5	c.1387_1405dup	9	469	Clamp		Small rearrangement	Fr.	Stop at 473	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 266 5_2010357_P0043214_AAE333 - 5 2480 SO_-3242---G03487 - 71 2520 SO_-3242---G05137 - 71 2584 SO_-3242---G06269 - 71
p.Leu595ThrfsX3	c.1782dup	12	595	EXO1 stabilization		Small rearrangement		Stop at 597	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 729 19_6510_6510-001_6510-001 - 19 730 19_6510_6510-004_6510-004 - 19 731 19_6510_6510-007_6510-007 - 19
p.Leu811PhefsX13	c.2432dup	14	811	ATPase		Small rearrangement		Stop at 823	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 318 5_2005110_20052068_AAA723 - 5