The UMD-MSH2 mutations database
Lys to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asn115X	c.339_340delGG	2	113	Mismatch binding		Small rearrangement	Fr.	Stop at 115	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2738 SO_-5403---G08337 - 71
p.Lys151AsnfsX5	c.453_454delAA	3	151	Connector		Small rearrangement	Fr.	Stop at 155	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 813 19_8598_8598-001_8589-001 - 19 814 19_8598_8598-002_8589-002 - 19
p.Lys172AsnfsX3	c.516_523del	3	172	Connector		Small rearrangement	Fr.	Stop at 174	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 113 2_02-DDM8081_29268_29268 - 2
p.Ala230LeufsX16	c.687delA	4	229	Connector		Small rearrangement	Fr.	Stop at 245	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 228 4_C97130_---_29 - 4 2687 SO_-5122---G07818 - 71
p.Lys249ArgfsX5	c.746delA	4	249	Connector		Small rearrangement	Fr.	Stop at 253	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2820 SO_-5503---G08977 - 71 1042 31_H109_H109_1_H109_1_A - 31 1043 31_H109_H109_3_H109_3_A - 31 2747 SO_-5503---G08493 - 71 2751 SO_-5503---G08538 - 71
p.Asn354ThrfsX3	c.1059delG	6	353	EXO1 stabilization		Small rearrangement	Fr.	Stop at 356	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 609 19_15855_15855-001_15855- - 19
p.Lys567ArgfsX3	c.1700_1704delAAACA	11	567	EXO1 stabilization		Small rearrangement	Fr.	Stop at 569	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 905 20_20-1542_1542-01_5024 - 20
p.Asp660IlefsX25	c.1977delA	12	659	ATPase		Small rearrangement	Fr.	Stop at 684	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2501 SO_-747---G04494 - 71
p.Ala848AsnfsX42	c.2541_2547del	15	847	ATPase		Small rearrangement	Fr.	Stop at 889	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2421 SO_-2505---G02059 - 71