The UMD-MSH2 mutations database
Small insertions (109 records)

    Request ID: 531540169554

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
71dup	c.71dup	1		p.Met26HisfsX56	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2456 SO_-3060---G03182 Causal - 71
192dup	c.192dup	1		p.Lys65GlnfsX17	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 187 4_CF945_---_--- Causal - 4
394dup	c.394dup	3		p.Glu132GlyfsX7	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2621 SO_-4080---G06842 Causal - 71
725dup	c.725dup	4		p.Asn242LysfsX14	Connector	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 853 19_11930_11930-001_11913- Causal - 19 1407 41_HNPCC129_HNPCC129001_- Causal - 41 1408 41_HNPCC129_HNPCC129002_- Causal - 41 2509 SO_-3640---G04955 Causal - 71 2513 SO_-3529---G05066 Causal - 71 2663 SO_-3640---G07420 Causal - 71 2664 SO_-3640---G07421 Causal - 71
804dup	c.804dup	5		p.Ser269IlefsX15	EXO1 stabilization	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 125 2_02-ACT2063_1706_1706 Causal - 2 126 2_02-ACT822_10126_10126 Causal - 2 866 19_1046_1046-001_1046-001 Causal - 19 867 19_1046_1046-002_1046-002 Causal - 19 868 19_1046_1046-003_1046-003 Causal - 19
839dup	c.839dup	5		p.Leu280PhefsX4	EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3182 19_2780027800-00127800-001 Causal - 19 128 2_02-SG101-Cochin_431_431 Causal - 2 1364 38_780_ANA1_2069 Causal - 38 1365 38_780_ANA2_2233 Causal - 38 1366 38_780_ANA3_2234 Causal - 38 1681 7_39972548E040716 Causal - 7 2161 7_39975195E060423 Causal - 7
1189_1190dup	c.1189_1190dup	7		p.Gln397HisfsX16	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 160 4_S00G10_---_518 Causal - 4 261 5_2005015_20050121_AAA601 Causal - 5
1222dup	c.1222dup	7		p.Tyr408LeufsX9	EXO1 stabilization	Causal	French MMR network	21/02/14	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 478 14_F0927_04C391_04C391 Causal - 14 640 19_5455_5455-001_5455-001 Causal - 19 641 19_5455_5455-002_5455-002 Causal - 19 642 19_5455_5455-003_5455-003 Causal - 19 643 19_5455_5455-004_5455-004 Causal - 19 644 19_5455_5455-007_5455-007 Causal - 19 1202 37_L06.29_5899_56164 Causal - 37 1203 37_L06.29_4157_43700/4370 Causal - 37 2328 SO_-1131---G00319 Causal - 71 2353 SO_-1131---G00839 Causal - 71 2354 SO_-1131---G00842 Causal - 71 2355 SO_-1131---G00852 Causal - 71 2356 SO_-1131---G00855 Causal - 71 2672 SO_-5037---G07710 Causal - 71
1235dup	c.1235dup	7		p.Asn412LysfsX5	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 964 31_H702_H702-1_H702-1A Causal - 31 965 31_H702_H702-1_H702-1B Causal - 31
1321dup	c.1321dup	8		p.Thr441AsnfsX2	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 264 5_2007091_P0032503_AAB612 Causal - 5 265 5_2008024_P0034549_AAC198 Causal - 5
1341dup	c.1341dup	8		p.Ser448LeufsX20	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2256 7_1449515086E112433 Causal - 7
1387_1405dup	c.1387_1405dup	9		p.Leu469ArgfsX5	Clamp	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 266 5_2010357_P0043214_AAE333 Causal - 5 2480 SO_-3242---G03487 Causal - 71 2520 SO_-3242---G05137 Causal - 71 2584 SO_-3242---G06269 Causal - 71
1413dup	c.1413dup	9		p.Pro472ThrfsX4	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 269 5_2005009_20060788_AAA808 Causal - 5 691 19_916_916-001_916-001-1 Causal - 19
1650dup	c.1650dup	10		p.Phe551IlefsX11	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2641 SO_-4780---G07174 Causal - 71
1782dup	c.1782dup	12		p.Leu595ThrfsX3	EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 729 19_6510_6510-001_6510-001 Causal - 19 730 19_6510_6510-004_6510-004 Causal - 19 731 19_6510_6510-007_6510-007 Causal - 19
1897dup	c.1897dup	12		p.Ile633AsnfsX11	ATPase	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 290 5_2001053_20024285_--- Causal - 5 2546 SO_-3907---G05547 Causal - 71 2635 SO_-3907---G07067 Causal - 71
1998dup	c.1998dup	12		p.Ile667HisfsX9	ATP binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 908 20_20-0494_0494-19_--- Causal - 20
2106dup	c.2106dup	13		p.Ser703ValfsX14	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1007 31_H722_H722-1_H722-1A Causal - 31
2135dup	c.2135dup	13		p.Gly713ArgfsX4	ATPase	Causal	French MMR network	21/02/14	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1257 37_L02.06_1122_6844 Causal - 37 1258 37_L02.06_1217_7859 Causal - 37 1259 37_L02.06_1301_9088 Causal - 37 1260 37_L02.06_1314_9401 Causal - 37 1261 37_L02.06_1666_14861 Causal - 37 1262 37_L02.06_1685_14967 Causal - 37 1263 37_L02.06_1686_14968 Causal - 37 1264 37_L02.06_1687_14969 Causal - 37 1265 37_L02.06_1769_16212 Causal - 37 1266 37_L02.06_2307_24098 Causal - 37 1267 37_L02.06_7096_67058 Causal - 37 1268 37_L02.06_7641_71242 Causal - 37 1269 37_L02.06_19683_129359 Causal - 37 1270 37_L02.06_19683_129447 Causal - 37
2136dup	c.2136dup	13		p.Gly713ArgfsX4	ATPase	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 937 25_10197_P10197_3_ABS86 Causal - 25 938 25_10197_P10197_2_KPC48 Causal - 25 939 25_10197_P10197_1_KPC49 Causal - 25 2556 SO_-4015---G05831 Causal - 71
2235_2237dup	c.2235_2237dup	14		p.Ile746_Ile746dup	ATPase	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2492 SO_-3349---G03721 UV - 71
2293_2296dup	c.2293_2296dup	14		p.Ile766SerfsX22	ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 777 19_13860_13860-001_13860- Causal - 19 778 19_13860_13860-002_13860- Causal - 19
2360_2361dup	c.2360_2361dup	14		p.Thr788LeufsX25	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 210 4_JCS0702_19964_1949 Causal - 4
2361_2364dup	c.2361_2364dup	14		p.Ala789TyrfsX11	ATPase	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2026 7_-5660---E051196 Causal - 7 2027 7_-56604470E051196 Causal - 7 2028 7_-5660---E051198 Causal - 7 2029 7_-56604468E051198 Causal - 7 2066 7_-56603255E051513 Causal - 7 2120 7_-5660---E060151 Causal - 7 2121 7_-56603255E060151 Causal - 7 2790 SO_-5660---G08830 Causal - 71 2794 SO_-56603235G08830 Causal - 71
2425dup	c.2425dup	14		p.Glu809GlyfsX15	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1080 33_TNN 032_---_96-329 Causal - 33
2432dup	c.2432dup	14		p.Leu811PhefsX13	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 318 5_2005110_20052068_AAA723 Causal - 5
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
2647dup	c.2647dup	16		p.Ile883AsnfsX16	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 95 2_02-DDM6020_24617_24617 Causal - 2 213 4_Gr2006-141_19318_1682 Causal - 4 1294 37_L03.37_1939_19325 Causal - 37 1463 7_444453E01139 Causal - 7 1573 7_35161651E03392 Causal - 7 2544 SO_-3911---G05531 Causal - 71 2650 SO_-3911---G07268 Causal - 71 2653 SO_-3911---G07305 Causal - 71 2681 SO_-3911---G07780 Causal - 71 2688 SO_-3911---G07831 Causal - 71 2689 SO_-3911---G07842 Causal - 71 2696 SO_-3911---G07921 Causal - 71 2773 SO_-3911---G08783 Causal - 71 2828 SO_-3911---G09021 Causal - 71