The UMD-MLH1 mutations database
Mutations involving exon 18

    Request ID: 2445102315

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
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
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
1410_2271del	c.1410_2271del	12-13			NLS	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 389 8_40946_7081960_08-960280 Causal - 8
1897_2271del	c.1897_2271del	17		p.Glu633ValfsX26	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 588 19_13119_13119-001_13119- Causal - 19 589 19_13119_13119-002_13119- Causal - 19 2931 4_Gr2013-272318244657 Causal - 4 2956 19_1311913119-01113119-011 Causal - 19
1996T>C	c.1996T>C	18		p.Trp666Arg	MLH3/PMS1/PMS2 interaction	UV	French MMR network	22/05/08	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 403 8_F1136_B042795_04-1875 UV - 8 404 8_F1136_B060898_ARN 1 - 8 UV - 8
2005G>C	c.2005G>C	18		p.Glu669Gln	MLH3/PMS1/PMS2 interaction	UV	French MMR network	10/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 882 31_H1194_H1194-1_H1194-1A UV - 31
2008A>T	c.2008A>T	18		p.Lys670X	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 353 6_605116_200504192_S5583 Causal - 6
2016T>G	c.2016T>G	18		p.Cys672Trp	MLH3/PMS1/PMS2 interaction	Neutral	French MMR network	24/10/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1053 37_L09.078_10890_90468 Neutral - 37
2024_2025delGC	c.2024_2025delGC	18		p.Ser675ThrfsX3		Causal	French MMR network	16/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2929 4_BCR1303303314416 Causal - 4
2038T>C	c.2038T>C	18		p.Cys680Arg	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	28/01/13	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 50 2_02-DDM4321_1968_1968 Causal - 2 179 4_JCS0919_22622_2787 Causal - 4 180 4_JCS1007_24499_3087 Causal - 4 883 31_H106_H106_1_H106_1_A Causal - 31 884 31_H181_H181_1_H181_1_A Causal - 31
2041G>A	c.2041G>A	18		p.Ala681Thr		Causal	French MMR network	16/06/14	23
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3034 20_20-52585258-02--- Causal - 20 51 2_02-DDM4019_21916_--- Causal - 2 181 4_8101_21498_2358 Causal - 4 182 4_Gr2009-27_23143_2781 Causal - 4 304 5_2003034_19931991_non Causal - 5 305 5_2003034_19894920_AAA545 Causal - 5 306 5_1996036_19961642_AAC328 Causal - 5 405 8_32575_24091940_08-96908 Causal - 8 611 19_400_400-002_400-002-1 Causal - 19 612 19_400_400-001_400-001-1 Causal - 19 734 20_20-4356_---_4356-01 Causal - 20 1054 37_L08.061-E_7279_--- Causal - 37 1055 37_L09.052_9889_83939 Causal - 37 1056 37_L09.052_10290_86890 Causal - 37 1057 37_L09.052_19095_127345/1 Causal - 37 1440 7_3982 (04K213)2142E04036 Causal - 7 2153 SO_-1158---G00250 Causal - 71 2200 SO_-2259---G01148 Causal - 71 2688 31_H1696H1696-1H1696-1A Causal - 31 2809 19_L08.061-E7279110849 Causal - 19 2810 19_L08.061-E15271112862 Causal - 19 2811 19_L11.01212969108139 Causal - 19 2867 31_H1696H16962H16962A Causal - 31
2042dup	c.2042dup	18		p.Met682TyrfsX12	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 610 19_15857_15857-002_15857- Causal - 19
2051A>G	c.2051A>G	18		p.Tyr684Cys	MLH3/PMS1/PMS2 interaction	Likely Neutral	French MMR network	26/03/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 469 17_F09 091_509356_7510 Likely Neutral - 17
2059C>T	c.2059C>T	18		p.Arg687Trp	MLH3/PMS1/PMS2 interaction	UV	French MMR network	1/06/15	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 183 4_B9908_---_--- UV - 4 184 4_94089_ancien_ancien UV - 4 307 5_2007412_20074334_AAC176 UV - 5 1058 37_L09.045-E_7651_82911 UV - 37 2574 SO_-5499---G08528 UV - 71 2725 19_2471524715.00124715.001 UV - 19
2066A>G	c.2066A>G	18		p.Gln689Arg	MLH3/PMS1/PMS2 interaction	Neutral	French MMR network	16/06/08	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 185 4_Gr2012-213_28977_4143 Neutral - 4 308 5_2007116_P0032578_AAB629 Neutral - 5 406 8_F978_B042536_04-1647 Neutral - 8 407 8_F978_B051510_05-1200 Neutral - 8 1581 7_-5770---E041025 Neutral - 7 1583 7_-57702852E041025 Neutral - 7 2658 37_L12.073-E19805129669 Neutral - 37
2072dup	c.2072dup	18		p.Ser692IlefsX2	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 309 5_2007175_20071807_AAB731 Causal - 5
2078_2079delAG	c.2078_2079delAG	18		p.Glu693GlyfsX10	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 354 6_605012_200500391_--- Causal - 6 2284 SO_-3073---G03169 Causal - 71 2353 SO_-3073---G05027 Causal - 71 2404 SO_-3073---G05914 Causal - 71 2406 SO_-3073---G05921 Causal - 71
2079dup	c.2079dup	18		p.Glu694GlyfsX10	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1389 7_511761E03515 Causal - 7
2080_2081delinsTC	c.2080_2081delinsTC	18				UV	French MMR network	22/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2778 19_1387513875-00113875-001-1 UV - 19
2092_2093delTC	c.2092_2093delTC	18		p.Ser698ArgfsX5	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2369 SO_-3955---G05449 Causal - 71
2100delG	c.2100delG	18		p.Gln700HisfsX82	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	27/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2868 19_257032570300125703001 Causal - 19
1732_2271dup	c.1732_2271dup			p.Stop757_758ins179AA		UV	French MMR network	16/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2859 41_HNPCC393HNPCC39300120112692 UV - 41