The UMD-MUTYH mutations database
Most recent 25 variations with a validated classification

    Request ID: 6124796939

NM_001128425.1	NM_001048171.1	exon	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
c.481G>C (p.Asp161His)	c.439G>C	6	p.Asp147His	HhH & pseudo-HhH	UV	French MMR network	29/08/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 201 10_MYH-82---2550P UV - 10 242 10_MYH-91---2742P UV - 10 257 10_MYH-100---2857P UV - 10 1046 33_SAT32108-750--- UV - 33 1503 25_HUS-3252PAN MAAIX54 UV - 25
c.733C>T (p.Arg245Cys)	c.691C>T	9	p.Arg231Cys	HhH & pseudo-HhH	UV	French MMR network	29/08/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 66 10_MYH-57---1618P UV - 10 528 7_-7443675--- UV - 7 737 7_75397684--- UV - 7 762 7_75398816--- UV - 7 1205 19_1869318693-001--- UV - 19 1608 SO_-744G01509G01509 UV - 71
c.847A>G (p.Met283Val)	c.805A>G	10	p.Met269Val	HhH & pseudo-HhH	UV	French MMR network	29/08/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 372 37_P00.0123086142380 UV - 37 373 37_P00.0123087142379 UV - 37 393 37_P00.01606602/16520 UV - 37 395 37_P00.01606--- UV - 37 397 37_P00.01618615 UV - 37 399 37_P00.01618--- UV - 37 401 37_P00.01619616 UV - 37 402 37_P00.01619--- UV - 37 600 7_6114(-2128)4811--- UV - 7 1407 41_APC324APC324001--- UV - 41
c.925C>T (p.Arg309Cys)	c.883C>T	10	p.Arg295Cys	APE1 binding site	UV	French MMR network	29/08/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 112 10_MYH-63---2054P UV - 10 182 10_MYH-64---2453P UV - 10 835 7_1034210758--- UV - 7
c.940C>T (p.Gln314X)	c.898C>T	11	p.Gln300X	APE1 binding site	Causal	French MMR network	29/08/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 10 10_MYH-35---1121P Causal - 10 27 10_MYH-35---1281P Causal - 10 225 10_MYH-87---2667P Causal - 10 531 7_43383679--- Causal - 7 1098 10_Re_351121Myh--- Causal - 10
c.985G>A (p.Val329Met)	c.943G>A	11	p.Val315Met	APE1 binding site	UV	French MMR network	29/08/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1773 37_P13.2323421152210/152212 UV - 37 1410 41_APC353APC353001--- UV - 41
c.991G>A (p.Glu331Lys)	c.949G>A	11	p.Glu317Lys	APE1 binding site	UV	French MMR network	29/08/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 676 37_P07.33635060527 UV - 37 677 37_F07.1186350--- UV - 37
c.994T>C (p.Cys332Arg)	c.952T>C	11	p.Cys318Arg	APE1 binding site	UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 555 7_-59934128--- UV - 7
c.1013A>G (p.Gln338Arg)	c.971A>G	12	p.Gln324Arg		UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 168 10_MYH-09---239P UV - 10
c.1142G>T (p.Gly381Val)	c.1100G>T	12	p.Gly367Val		UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 986 33_PSL33206-671--- UV - 33
c.1276C>A (p.Arg426Ser)	c.1234C>A	13	p.Arg412Ser		UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 331 10_MYH-15---620P UV - 10
c.1306C>T (p.Leu436Phe)	c.1264C>T	13	p.Leu422Phe		UV	French MMR network	29/08/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 196 10_MYH-36---2524P UV - 10 231 10_MYH-88---2700P UV - 10
c.1493A>G (p.Gln498Arg)	c.1451A>G	15	p.Gln484Arg		UV	French MMR network	1/10/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1765 37_P13.5823433149136/149135 UV - 37