The UMD-MLH1 mutations database
Mutations involving exon 12

    Request ID: 13520105771

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1_1558del	c.1_1558del	1		p.Met1?		Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 476 19_8079_8079-001_8079-001 Causal - 19
1_2271del	c.1_2271del	1		p.Met1?		Causal	French MMR network	14/02/14	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 107 4_H-JCS0506_18317_1299 Causal - 4 376 8_32347_B042705_04-1856 Causal - 8 479 19_9340_9340-001_9340-001 Causal - 19 480 19_9776_9776-001_9776-001 Causal - 19 481 19_9340_9340-002_9340-002 Causal - 19 482 19_10381_10381-001_10381- Causal - 19 483 19_9340_9340-003_9340-003 Causal - 19 484 19_10381_10381-004_10381- Causal - 19 485 19_9340_9340-004_9340-004 Causal - 19 486 19_9340_9340-005_9340-005 Causal - 19 2525 SO_-5158---G07855 Causal - 71
208_2271del	c.208_2271del	3		p.Lys70ValfsX3	ATPase	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 52 2_02-DDM3127_19588_--- Causal - 2
885_1409del	c.885_1409del	10-11		p.Ser295_Pro469del	MutL transMLH1 transducer	Causal	French MMR network	14/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1168 37_L05.02-E_2843_30818 Causal - 37 1169 37_L05.02-E_2900_31510 Causal - 37 1771 7_-6033---E051003 Causal - 7
1039_2271del	c.1039_2271del	12		p.Thr347ValfsX26		Causal	French MMR network	14/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2 2_PLP07-189_19273_--- Causal - 2 510 19_10057_10057-001_10057- Causal - 19 511 19_10057_10057-003_10057- Causal - 19 512 19_10057_10057-005_10057- Causal - 19 513 19_10057_10057-007_10057- Causal - 19
1040C>A	c.1040C>A	12		p.Thr347Asn		UV	French MMR network	20/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2026 7_1175812320E100953 UV - 7
1085_1086delinsTTG	c.1085_1086delinsTTG	12				Causal	French MMR network	21/05/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2726 41_HNPCC030HNPCC030001 Causal - 41 2727 37_L04.19758770798 Causal - 37 2728 37_L04.191118692099 Causal - 37 2754 7_-3975G05773 Causal - 31 2755 7_-3975G05773 Causal - 31 2757 7_-3975G05773 Causal - 31 2758 37_L04.191030387346 Causal - 37 2780 37_L04.19234824617 Causal - 37
1103C>A	c.1103C>A	12		p.Ser368X		Causal	French MMR network	14/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 743 25_HUS-1942_QUAMAR_AGA40 Causal - 25 744 25_CPS-2068_FROVER_ARZ35 Causal - 25 2649 25_HUS-1942QUAMARAGA40 Causal - 25
1104G>A	c.1104G>A	12		p.Ser368Ser		Neutral	French MMR network	11/03/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 6 2_02-ACT2485_18109_--- Neutral - 2 250 5_2004199_P0026482_AAA373 Neutral - 5
1136A>G	c.1136A>G	12		p.Tyr379Cys		UV	French MMR network	22/05/08	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 112 4_2152_17516_--- UV - 4 722 20_20-2291_2291-01_--- UV - 20
1144C>T	c.1144C>T	12		p.Gln382X		Causal	French MMR network	14/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 7 2_02-DDM3584_20867_--- Causal - 2 2513 SO_-5038---G07705 Causal - 71 2514 SO_-5038---G07706 Causal - 71 2583 SO_-5038---G08732 Causal - 71
1148T>C	c.1148T>C	12		p.Met383Thr		UV	French MMR network	15/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 8 2_02-DDM3580_20745_--- UV - 2
1151T>A	c.1151T>A	12		p.Val384Asp		Neutral	French MMR network	19/03/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 9 2_02-ACT3269_19985_--- Neutral - 2 2409 SO_-4063---G05973 Neutral - 71
1153C>T	c.1153C>T	12		p.Arg385Cys		UV	French MMR network	18/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2010 7_95309883E082019 UV - 7 2011 7_95309883E082019 UV - 7
1153dup	c.1153dup	12		p.Arg385ProfsX10		Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 842 31_H588_H588-1_H588-1A Causal - 31
1154G>A	c.1154G>A	12		p.Arg385His		UV	French MMR network	18/09/09	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 10 2_02 DDM3426_20473_--- UV - 2 251 5_2006384_20064766_AAD449 UV - 5 2650 5_200638420064766AAD449 UV - 5
1157_1158delCA	c.1157_1158delCA	12		p.Thr386ArgfsX8		Causal	French MMR network	14/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 113 4_H-JCS0306 99H13__309 Causal - 4 1171 38_597_---_1966 Causal - 38
1159_1160delGA	c.1159_1160delGA	12		p.Asp387PhefsX7		Causal	French MMR network	14/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 526 19_5673_5673-001_5673-001 Causal - 19 527 19_5673_5673-002_5673-002 Causal - 19
1171C>T	c.1171C>T	12		p.Gln391X		Causal	French MMR network	14/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 252 5_2004072_20041330_AAA199 Causal - 5 253 5_2004072_20042170_AAA344 Causal - 5 254 5_2004072_19901838_AAB145 Causal - 5 2430 SO_-3825---G06449 Causal - 71 2458 SO_-3825---G06811 Causal - 71 2459 SO_-3825---G06812 Causal - 71
1173_1174dup	c.1173_1174dup	12		p.Lys392ArgfsX10		Causal	French MMR network	14/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2529 SO_-5188---G07917 Causal - 71 2530 SO_-51883125G07917 Causal - 71 2533 SO_-5188---G07918 Causal - 71 2534 SO_-51883126G07918 Causal - 71
1178T>C	c.1178T>C	12		p.Leu393Pro		Causal	French MMR network	28/01/13	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 114 4_8320_24042_2964 Causal - 4 541 19_16409_16409-001_16409- Causal - 19 844 31_H561_H561-1_H561-1A Causal - 31 845 31_H561_H561-6_H561-6A Causal - 31 846 31_H561_H561-7_H561-7A Causal - 31 2651 5_201172220172203AAG003 Causal - 5 2848 19_235632356300123563001 Causal - 19 2945 19_2636526365-00126365-001 Causal - 19 2946 19_2636526365-00326365-003 Causal - 19 2955 19_1783417834-01017834-010 Causal - 19
1201_1202delAG	c.1201_1202delAG	12		p.Ser401GlnfsX15		Causal	French MMR network	14/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2243 SO_-2556---G02088 Causal - 71 2302 SO_-2556---G03358 Causal - 71
1217G>A	c.1217G>A	12		p.Ser406Asn		Neutral	French MMR network	16/06/08	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 745 25_HUS-3436_REIVER_AMI 25 Neutral - 25 1513 7_39522526E040663 Neutral - 7 1597 7_-57992955E041034 Neutral - 7 1879 7_5365 (05K269)4935E06012 Neutral - 7 2652 25_HUS-3436REIVERAMI 25 Neutral - 25 2850 25_HUS3436132213AMI 25 Neutral - 25 3008 17_20131116323003--- Neutral - 17
1225_1259del	c.1225_1259del	12		p.Gln409X		Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 545 19_15268_15268-001_15268- Causal - 19
1228delG	c.1228delG	12		p.Ala410ProfsX81		Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3044 19_2765827658-00127658-001 Causal - 19
1229C>T	c.1229C>T	12		p.Ala410Val	EXO1 interaction	UV	French MMR network	22/05/08	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1336 7_23311555E03232 UV - 7
1231A>C	c.1231A>C	12		p.Ile411Leu	EXO1 interaction	UV	French MMR network	3/08/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2022 7_1071711201E091813 UV - 7
1259C>T	c.1259C>T	12		p.Ser420Phe	EXO1 interaction	UV	French MMR network	22/05/08	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1405 7_3543 (E64)1835E040034 UV - 7
1261A>G	c.1261A>G	12		p.Ser421Gly	EXO1 interaction	UV	French MMR network	10/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 723 20_20-3282_3282-01_13089 UV - 20
1268G>A	c.1268G>A	12		p.Arg423Lys	EXO1 interaction	Likely Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 120 4_JCS0931_23839_2893 Likely Neutral - 4 986 37_L09.050_9806_83369 Likely Neutral - 37
1288G>T	c.1288G>T	12		p.Glu430X	EXO1 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2497 SO_-4952---G07477 Causal - 71
1321G>A	c.1321G>A	12		p.Ala441Thr	EXO1 interaction	Neutral	French MMR network	29/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 548 19_14372_14372-001_14372- Neutral - 19
1324G>A	c.1324G>A	12		p.Ala442Thr		UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3017 5_20137232013005680AAI461 UV - 5
1331A>G	c.1331A>G	12		p.Asn444Ser	EXO1 interaction	Neutral	French MMR network	16/06/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 13 2_02-DDM4019_21916_--- Neutral - 2 255 5_1996036_19961642_AAC328 Neutral - 5 378 8_32575_24091940_08-96908 Neutral - 8 724 20_20-4356_---_4356-01 Neutral - 20 1438 7_3982 (04K213)2142E04036 Neutral - 7 2653 31_H1653H1653-1H1653-1A Neutral - 31 2790 19_L11.01212969108139 Neutral - 19 2851 31_H1653H16531H16531B Neutral - 31 2852 31_H1696H16962H16962A Neutral - 31 2915 31_H1696H1696-1H1696-1B Neutral - 31
1333delC	c.1333delC	12		p.Gln445ArgfsX46	EXO1 interaction	Causal	French MMR network	14/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 121 4_S00G09_---_514 Causal - 4 379 8_43165_23061967_08-99810 Causal - 8 2471 SO_-4728---G07061 Causal - 71 2620 SO_-4728---G08918 Causal - 71
1347dup	c.1347dup	12		p.Asp450GlyfsX29	EXO1 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 452 14_FONT_LE_COM_05C247_05C Causal - 14
1349delA	c.1349delA	12		p.Asp450ValfsX41		Causal	French MMR network	22/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2996 14_ICO ANGERS14C074314C0743 Causal - 14
1360G>C	c.1360G>C	12		p.Gly454Arg	EXO1 interaction	Neutral	French MMR network	11/03/09	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 122 4_13_17487_ Neutral - 4 2013 7_991710310E090329 Neutral - 7 2370 SO_-3952---G05452 Neutral - 71
1379A>C	c.1379A>C	12		p.Glu460Ala	EXO1 interaction	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2654 31_H1588H1588-1H1588-1A UV - 31
1387_1405dup	c.1387_1405dup	12		p.Pro469ArgfsX16	EXO1 interaction	Causal	French MMR network	4/08/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2841 71_-3242G03487 Causal - 71 2842 71_-3242G06269 Causal - 71 2843 71_-3242G05137 Causal - 71
1408A>T	c.1408A>T	12-13		p.Arg470X		Causal	French MMR network	14/02/14	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3053 19_2932929329-00129329-001 Causal - 19 124 4_Gr2004-12_18552_2807 Causal - 4 1639 7_-3267---E050136 Causal - 7 1640 7_-32673515E050136 Causal - 7 1684 7_-32673758E050385 Causal - 7 2237 SO_-2484---G01944 Causal - 71 2307 SO_-3267---G03553 Causal - 71 2451 SO_-3267---G06735 Causal - 71 2549 SO_-2484---G08148 Causal - 71 2550 SO_-2484---G08159 Causal - 71 3018 5_20140312013006370AAI675 Causal - 5 3030 20_20-63216321-01--- Causal - 20