The UMD-MLH1 mutations database
Mutations involving exon 13

    Request ID: 2445478209

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
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
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
1410_1558del	c.1410_1558del	12-13		p.Arg470SerfsX8	NLS	Causal	French MMR network	14/02/14	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 380 8_33372_B050394_05-0325 Causal - 8 381 8_33372_B053230_36647 Causal - 8 382 8_F45_45757_08-401011BA Causal - 8 383 8_F45_45902_08-201011BA Causal - 8 384 8_F45_45903_08-301011BA Causal - 8 385 8_F45_46313_08-701011BA Causal - 8 386 8_F45_80238_08-853121EGS Causal - 8 387 8_44267_78357_08-224121EG Causal - 8 388 8_F45_82220_08-827221EGS Causal - 8 549 19_8316_8316-001_8316-001 Causal - 19 550 19_9787_9787-001_9787-001 Causal - 19 2791 8_F454590008-290011BA Causal - 8 2792 8_F451719808-501011BA Causal - 8
1410_1896del	c.1410_1896del	12-13		p.Arg472GlyfsX3	NLS	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 551 19_645_645-001_645-001-1 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
1411_1414delAAGA	c.1411_1414delAAGA	13		p.Lys471AspfsX19	NLS	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 987 37_F07.110_5251_60274 Causal - 37
1421G>A	c.1421G>A	13		p.Arg474Gln	NLS	Neutral	French MMR network	19/03/09	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 19 2_02-SG407-Cochin_2041_-- Neutral - 2 2445 SO_-4171---G06697 Neutral - 71 2481 SO_-4171---G07266 Neutral - 71 2645 SO_-4171---GB6168 Neutral - 71 2646 SO_-4171---GB6169 Neutral - 71
1444G>A	c.1444G>A	13		p.Val482Met	EXO1 interaction	UV	French MMR network	22/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2023 7_1104611626E092426 UV - 7
1459C>T	c.1459C>T	13		p.Arg487X	EXO1 interaction	Causal	French MMR network	14/02/14	29
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 20 2_02-ACT3064_909_--- Causal - 2 258 5_2004178_20042890_AAA408 Causal - 5 259 5_2004178_20052456_AAA774 Causal - 5 347 6_608259_B66598_S6698 Causal - 6 747 25_10258_P10258_1_KPC54 Causal - 25 748 25_11055_P11055_1_KPC80 Causal - 25 749 25_14323_P14323_1_AAY71 Causal - 25 847 31_H1392_H1392-1_H1392-1A Causal - 31 988 37_L98.04_270_195 Causal - 37 989 37_L98.04_807_2027 Causal - 37 990 37_L98.04_810_2029 Causal - 37 991 37_L98.04_1034_5274 Causal - 37 992 37_L98.04_872_2796 Causal - 37 993 37_L98.04_981_4193 Causal - 37 994 37_L02.25_1410_10835 Causal - 37 995 37_L98.04_2118_21366 Causal - 37 996 37_L98.04_3335_35870 Causal - 37 1176 41_HNPCC045_HNPCC045001_- Causal - 41 1177 41_HNPCC045_HNPCC045002_- Causal - 41 1178 41_HNPCC045_HNPCC045009_- Causal - 41 2278 SO_-3048---G03078 Causal - 71 2376 SO_-92---G05677 Causal - 71 2413 SO_-4125---G06057 Causal - 71 2496 SO_-92---G07464 Causal - 71 2628 SO_-5724---G08981 Causal - 71 2629 SO_-57243285G08981 Causal - 71 2655 2_02-DDM1110536842213280474 Causal - 2 2964 37_L13.170-E29794166717 Causal - 37 2965 37_L14.13128003160759 Causal - 37
1488dup	c.1488dup	13		p.Arg497ProfsX6	EXO1 interaction	Causal	French MMR network	14/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 126 4_H02H07_17240_724 Causal - 4 127 4_JCS1210_28031_3947 Causal - 4 453 14_F904_04C054_04C054 Causal - 14 849 31_H1502_H1502-1_H1502-1A Causal - 31 2656 37_L13.09022978141885/141886 Causal - 37
1489delC	c.1489delC	13		p.Arg497GlyfsX11	EXO1 interaction	Causal	French MMR network	14/02/14	20
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 21 2_02-DDM2945_19159_--- Causal - 2 390 8_35817_B053276_18384 Causal - 8 391 8_35817_B053277_17288 Causal - 8 392 8_35817_B061142_06-0924 Causal - 8 393 8_35817_B061143_06-0926 Causal - 8 552 19_4140_4140-001_4140-001 Causal - 19 553 19_4140_4140-002_4140-002 Causal - 19 554 19_4140_4140-003_4140-003 Causal - 19 555 19_4140_4140-004_4140-004 Causal - 19 556 19_6704_6704-001_6704-001 Causal - 19 750 25_11395_P11395_1_KPC93 Causal - 25 751 25_HUS-605_WAAER_AKC24 Causal - 25 752 25_HUS-605_WAAER_AKC24 Causal - 25 848 31_H182_H182_1_H182_1_A Causal - 31 1845 7_-6156---E051622 Causal - 7 1848 7_-61564857E051622 Causal - 7 2193 SO_-2138---G00892 Causal - 71 2327 SO_-2138---G04189 Causal - 71 2500 SO_-2138---G07535 Causal - 71 3027 2_DDM472944192215187468 Causal - 2
1514G>A	c.1514G>A	13		p.Ser505Asn	PCNA binding site	UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3009 17_121516216186001--- UV - 17
1520_1521delTG	c.1520_1521delTG	13		p.Leu507X	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2580 SO_-5588---G08679 Causal - 71
1528C>T	c.1528C>T	13		p.Gln510X	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 128 4_BCR0501_19218_1336 Causal - 4
1534delG	c.1534delG	13		p.Glu512LysfsX23	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 129 4_CH0903_23265_2778 Causal - 4
1546C>T	c.1546C>T	13		p.Gln516X	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 130 4_Alg99/297_---_--- Causal - 4
1552delC	c.1552delC	13		p.His518MetfsX17	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 131 4_T04077_18048_1142 Causal - 4 557 19_2645_2645-001_2645-001 Causal - 19 558 19_2645_2645-002_2645-002 Causal - 19 559 19_2645_2645-003_2645-003 Causal - 19
1555delG	c.1555delG	13		p.Glu519ArgfsX16	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 560 19_385_385-002_385-002-1 Causal - 19
1556_1557delAG	c.1556_1557delAG	13		p.Glu519GlyfsX8	MLH3/PMS1/PMS2 interaction	Causal	French MMR network	14/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 22 2_02-DDM3820_21422_--- Causal - 2