The UMD-MSH2 mutations database
Mutations involving exon 15

    Request ID: 636306090

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1_2634del	c.1_2634del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1098 37_L06.03-E_4325_44807/44 Causal - 37 1783 7_-2348---E041267 Causal - 7 2375 SO_-2348---G01371 Causal - 71 2455 SO_-2348---G03155 Causal - 71
1_2805del	c.1_2805del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 140 4_H-01H12_18942_1105 Causal - 4 141 4_B0409_18028_1583 Causal - 4 551 19_12103_12103-001_12103- Causal - 19 552 19_12103_12103-002_12103- Causal - 19 553 19_8835_8835-001_8835-001 Causal - 19 554 19_8835_8835-002_8835-002 Causal - 19 555 19_8835_8835-003_8835-003 Causal - 19 1100 37_L05.02_2367_29894 Causal - 37
793_2805del	c.793_2805del	5		p.Ala266LysfsX11	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1322 37_L08.022-E_6099_65379 Causal - 37
1077_2805del	c.1077_2805del	6-7			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 248 5_2007248_P0033498_AAB854 Causal - 5
1277_2805del	c.1277_2805del	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 660 19_8387_8387-001_8387-001 Causal - 19 661 19_8387_8387-003_8387-003 Causal - 19 662 19_8387_8387-005_8387-005 Causal - 19
1387_2805del	c.1387_2805del	9		p.Glu464ArgfsX9	EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 168 4_C99101_18096_914 Causal - 4 169 4_T04157_18211_1226 Causal - 4 170 4_9348_23748_2969 Causal - 4 683 19_8237_8237-001_8237-001 Causal - 19 684 19_8237_8237-003_8237-003 Causal - 19 685 19_9639_9639-001_9639-001 Causal - 19 686 19_9639_9639-002_9639-002 Causal - 19
1662_2805del	c.1662_2805del	10-11		p.Ser554_Met592delinsArg	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 178 4_JCS1001_24139_2970 Causal - 4 711 19_4146_4146-001_4146-001 Causal - 19 712 19_4146_4146-003_4146-003 Causal - 19 3005 8_461238692608-083131EGS Causal - 8
2467G>C	c.2467G>C	15		p.Asp823His	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1016 31_H128_H128_1_H128_1_A UV - 31
2472_2473delinsGAT	c.2472_2473delinsGAT	15			ATPase	Causal	French MMR network	22/05/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2913 2_02-ACT319319760 Causal - 2 2897 19_1484914849-00114849-001-1 Causal - 19 2898 19_1484914849-00414849-004-1 Causal - 19 2908 19_1484914849-00214849-002-1 Causal - 19 2918 33_PSL 67006-763 Causal - 33
2499delT	c.2499delT	15		p.Ala834LeufsX7	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 785 19_14321_14321-001_14321- Causal - 19
2503A>G	c.2503A>G	15		p.Asn835Asp	ATPase	UV	French MMR network	20/09/10	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 211 4_JCS0926_23725_2882 UV - 4 3141 37_L12.12220869134963 UV - 37
2517T>A	c.2517T>A	15		p.His839Gln	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2705 SO_-5215---G07950 UV - 71
2521delA	c.2521delA	15		p.Ile841X	ATPase	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 87 2_02-SG417-Cochin_2046_20 Causal - 2 1017 31_H224_H224_1_H224_1_A Causal - 31 1018 31_H224_H224-2_H224-2A Causal - 31 1019 31_H224_H224-2_H224-2B Causal - 31
2536C>T	c.2536C>T	15		p.Gln846X	ATPase	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 89 2_02-SG63-IGR ACT2336_387 Causal - 2 90 2_02-ACT2508_1188_1188 Causal - 2 1754 7_-5814---E041036 Causal - 7 1757 7_-58142980E041036 Causal - 7 2537 SO_-3954---G05457 Causal - 71
2541_2547del	c.2541_2547del	15		p.Ala848AsnfsX42	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2421 SO_-2505---G02059 Causal - 71
2546T>G	c.2546T>G	15		p.Leu849Arg	ATPase	UV	French MMR network	6/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1447 7_1978406E01057 UV - 7 1659 7_20702505E040640 UV - 7 2301 7_1030284E2K267 UV - 7 2311 7_1141293E2K275 UV - 7
2554G>T	c.2554G>T	15		p.Glu852X	ATPase	Causal	French MMR network	21/02/14	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 91 2_02-ACT2025_12641_12641 Causal - 2 1285 37_L09.053_9892_84539 Causal - 37 1286 37_L09.053_9892_98386 Causal - 37 1287 37_L09.053_12425_102368 Causal - 37 1288 37_L09.053_13674_102995 Causal - 37 1289 37_L09.053_16696_115844 Causal - 37 1290 37_L09.053_16696_127887 Causal - 37 1291 37_L09.053_19886_129975 Causal - 37 1292 37_L09.053_19886_131306 Causal - 37 1293 37_L12.056_19432_128409/1 Causal - 37 2867 37_L09.05322523140150 Causal - 37 2868 37_L09.05322521140156 Causal - 37 3142 37_L09.05322429--- Causal - 37 3143 37_L12.05625695152914 Causal - 37 3144 37_L14.08024709158108 Causal - 37
2558A>G	c.2558A>G	15		p.Glu853Gly	ATPase	UV	French MMR network	9/07/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2334 SO_-1296---G00341 UV - 71 2363 SO_-1296---G01051 UV - 71
2558delA	c.2558delA	15		p.Glu853GlyfsX39	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2376 SO_-403---G01450 Causal - 71
2567A>G	c.2567A>G	15		p.Tyr856Cys	Helix-turn-helix	UV	French MMR network	22/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1081 33_PSL 440__06-175 UV - 33
2576_2584del	c.2576_2584del	15		p.Glu859_Gln861del	Helix-turn-helix	UV	French MMR network	17/10/08	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 320 5_2007070_20070899_AAB618 UV - 5
2579_2592del	c.2579_2592del	15		p.Ser860TyrfsX17	Helix-turn-helix	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2253 7_1313014583E111688 Causal - 7 2259 7_1313015655E120559 Causal - 7
2580G>A	c.2580G>A	15		p.Ser860Ser	Helix-turn-helix	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2221 7_85728848E080628 UV - 7
2581C>G	c.2581C>G	15		p.Gln861Glu	Helix-turn-helix	UV	French MMR network	18/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 375 6_606253_200606528_S0332 UV - 6
2581C>T	c.2581C>T	15		p.Gln861X	Helix-turn-helix	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 212 4_C94078/94H13_---_--- Causal - 4 376 6_607246_B64543_S5717 Causal - 6 1835 7_-5832---E050268 Causal - 7 2025 7_-58323021E051192 Causal - 7 2372 SO_-2231---G01111 Causal - 71 2911 19_2861928619.00128619.001 Causal - 19
2581delC	c.2581delC	15		p.Gln861LysfsX31	Helix-turn-helix	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 92 2_02-DDM2895_19064_19064 Causal - 2
2582A>T	c.2582A>T	15		p.Gln861Leu	Helix-turn-helix	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1813 7_47583567E050161 UV - 7
2606C>A	c.2606C>A	15		p.Ala869Glu	Helix-turn-helix	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 788 19_6990_6990-001_6990-001 UV - 19
2595_2610dup	c.2595_2610dup	15		p.Lys871delinsAsnThr	Helix-turn-helix	Causal	French MMR network	28/04/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2502 SO_-826---G04539 Causal - 71 2503 SO_-826---G04540 Causal - 71 3145 19_2489224892-00124892-001 Causal - 19 3146 19_2489224892-00224892-002 Causal - 19
2633A>G	c.2633A>G	15		p.Glu878Gly	MSH3/MSH6 interaction	Likely Causal	French MMR network	13/12/11	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2980 7_68729775E112045 Likely Causal - 7 2979 7_68726927E070316 Likely Causal - 71 2981 7_68729856E090617 Likely Causal - 7
2633_2634delAG	c.2633_2634delAG	15		p.Glu878AlafsX3	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3236 19_2807228072-00228072-002 Causal - 19 321 5_2004041_P0024840_AAA113 Causal - 5 322 5_2004041_20050741_AAA622 Causal - 5 323 5_2004041_20013672_AAA882 Causal - 5 324 5_2004041_20062113_AAB216 Causal - 5 325 5_2004041_20062114_AAB222 Causal - 5 3235 19_2807228072-00128072-001 Causal - 19
2634G>A	c.2634G>A	15		p.Glu878Glu	MSH3/MSH6 interaction	Causal	French MMR network	7/10/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3147 37_L14-046-E26720156574 Causal - 37
2634G>C	c.2634G>C	15		p.Glu878Asp	MSH3/MSH6 interaction	UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3032 19_2904429044-00129044-001 UV - 19
2459_2634dup	c.2459_2634dup	16		p.Gln879ValfsX21	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3215 20_20-46714671-01--- Causal - 20 3216 20_20-46714671-03--- 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