The UMD-MSH2 mutations database
Variations with a biological significance = Likely neutral

    Request ID: 531540169642

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
7G>T	c.7G>T	1		p.Val3Leu	Mismatch binding	Likely Neutral	French MMR network	13/12/11	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 465 8_36202_B061239_06-0117 Likely Neutral - 8 2201 7_-6279---E060758 Likely Neutral - 7 2972 8_1787499608-750021BA Likely Neutral - 8
23C>T	c.23C>T	1		p.Thr8Met	Mismatch binding	Likely Neutral	French MMR network	13/05/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1484 7_2153257E02103 Likely Neutral - 7 1490 7_2153746E02148 Likely Neutral - 7 1491 7_2153750E02149 Likely Neutral - 7 1492 7_2153747E02151 Likely Neutral - 7 1565 7_2153747E03351 Likely Neutral - 7 1566 7_2153746E03352 Likely Neutral - 7 2493 SO_2153---G03817 Likely Neutral - 71
28C>A	c.28C>A	1		p.Gln10Lys	Mismatch binding	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2508 SO_2124---G04951 Likely Neutral - 71
30G>A	c.30G>A	1		p.Gln10Gln	Mismatch binding	Likely Neutral	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 916 20_20-3124_3124-01_12479 Likely Neutral - 20
55T>C	c.55T>C	1		p.Phe19Leu	Mismatch binding	Likely Neutral	French MMR network	13/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2655 SO_-4866---G07330 Likely Neutral - 71
205C>T	c.205C>T	1		p.Pro69Ser	Mismatch binding	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 194 4_JCS0811_20451_2322 Likely Neutral - 4
207G>C	c.207G>C	1		p.Pro69Pro	Mismatch binding	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2577 SO_-4176---G06216 Likely Neutral - 71
274C>G	c.274C>G	2		p.Leu92Val	Mismatch binding	Likely Neutral	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3039 25_HCC-3385141046AML36 Likely Neutral - 25
317G>A	c.317G>A	2		p.Arg106Lys	Mismatch binding	Likely Neutral	French MMR network	13/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2148 7_54655106E060276 Likely Neutral - 7
885C>G	c.885C>G	5		p.Asp295Glu	EXO1 stabilization	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 872 19_15422_15422-001_15422- Likely Neutral - 19
1021C>G	c.1021C>G	6		p.Leu341Val	EXO1 stabilization	Likely Neutral	French MMR network	26/03/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 392 8_35618_28061977_08-87130 Likely Neutral - 8
1933C>G	c.1933C>G	12		p.Gln645Glu	ATPase	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 746 19_9220_9220-001_9220-001 Likely Neutral - 19
2110A>G	c.2110A>G	13		p.Ile704Val	ATPase	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 313 5_2005254_20042265_AAA946 Likely Neutral - 5
2662C>T	c.2662C>T	16		p.Leu888Leu	MSH3/MSH6 interaction	Likely Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 327 5_2008333_20083604_AAC704 Likely Neutral - 5 2576 SO_-4181---G06210 Likely Neutral - 71