The UMD-MSH2 mutations database
Large duplications (41 records)

    Request ID: 531540169137

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
281_282insTTT	c.281_282insTTT	2		p.Leu94dup	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2555 SO_-4001---G05800 UV - 71
332_333insCC	c.332_333insCC	2		p.Ser112HisfsX63	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2394 SO_-881---G01555 Causal - 71
212_366dup	c.212_366dup	3		p.Ala123GlufsX13	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 766 19_14712_14712-001_14712- Causal - 19
401_402insCA	c.401_402insCA	3		p.Leu135IlefsX40	Connector	Causal	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2966 4_10322255613382 Causal - 4
1_645dup	c.1_645dup	4		p.Met1_Gln215dup	Connector	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 589 19_9040_9040-001_9040-001 Causal - 19 590 19_9040_9040-002_9040-002 Causal - 19 591 19_9040_9040-003_9040-003 Causal - 19
793_1076dup	c.793_1076dup	5		p.Val265delinsValStop	EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 861 19_8418_8418-001_8418-001 Causal - 19 862 19_8418_8418-002_8418-002 Causal - 19 863 19_8418_8418-003_8418-003 Causal - 19
806_80713s13	c.806_807ins13	5		p.Leu270ValfsX18	EXO1 stabilization	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3179 17_121541212576001--- Causal - 17
999_1000insTAAG	c.999_1000insTAAG	6		p.Lys334X	Lever	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2662 SO_-4894---G07411 Causal - 71
1077_1276dup	c.1077_1276dup	7-8		p.Gly426AspfsX2	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 156 4_CH1208_28599_4105 Causal - 4 355 6_608231_201001319_S8776 Causal - 6 625 19_7083_7083-001_7083-001 Causal - 19 626 19_7083_7083-002_7083-002 Causal - 19 627 19_7083_7083-003_7083-003 Causal - 19 628 19_7083_7083-004_7083-004 Causal - 19 629 19_7083_7083-006_7083-006 Causal - 19 630 19_7083_7083-007_7083-007 Causal - 19 1175 37_L12.044-E_19162_127462 Causal - 37 1176 37_L12.045-E_19163_127463 Causal - 37
1077_1386dup	c.1077_1386dup	9		p.Val463IlefsX29	Clamp	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 632 19_7199_7199-001_7199-001 Causal - 19
1387_1661dup	c.1387_1661dup	9		p.Val463delinsValStop	EXO1 stabilization	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 167 4_H95H006_---_125 Causal - 4 676 19_12156_12156-001_12156- Causal - 19 677 19_12156_12156-002_12156- Causal - 19 678 19_12156_12156-004_12156- Causal - 19 679 19_12172_12172-001_12172- Causal - 19 680 19_4264_4264-001_4264-001 Causal - 19 681 19_7722_7722-001_7722-001 Causal - 19 682 19_7722_7722-002_7722-002 Causal - 19
1662_1759dup	c.1662_1759dup	11-12		p.Gly587AlafsX3	Lever	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 704 19_8651_8651-001_8651-001 Causal - 19
2496_249714s14	c.2496_2497ins14	15		p.Leu833HisfsX13	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 86 2_02-SG644-IGR_1885_1885 Causal - 2
2459_2634dup	c.2459_2634dup	16		p.Gln879ValfsX21	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3216 20_20-46714671-03--- Causal - 20 780 19_13048_13048-001_13048- Causal - 19 781 19_9497_9497-001_9497-001 Causal - 19 2478 SO_-3200---G03436 Causal - 71 2485 SO_-3200---G03554 Causal - 71 3215 20_20-46714671-01--- Causal - 20
2647dup	c.2647dup	16		p.Ile883AsnfsX16	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3154 4_13067305334509 Causal - 4
1_2805dup	c.1_2805dup			p.Stop935_936ins934AA		Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 556 19_13098_13098-001_13098- Causal - 19