The UMD-FBN1 mutations database
Arg to Insertion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg658AlafsX23	c.1971dup	16	658	TGFBP#02		Small rearrangement	Fr.	Stop at 680	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1152 UKD05LON F0115 I01 NA Heterozygous U.K. NA 96
p.Cys1429LeufsX2	c.4283dup	34	1428	cb EGF-like #20	Ca2+ binding	Small rearrangement	Fr.	Stop at 1430	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1838 JAP01YOK F0012 I0001 NA Heterozygous JAPAN NA 149
p.Arg1541AspfsX42	c.4616_4620dup	37	1541	TGFBP#04	RGD	Small rearrangement	Fr.	Stop at 1582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1688 NOR01OSL F0018 I0001 NA Heterozygous NORWAY NA 148
p.Arg2355LysfsX12	c.7063dup	57	2355	TGFBP #07		Small rearrangement	Fr.	Stop at 2366	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2079 SWI01ZUR F0043 I01 NA Heterozygous SWITZERLAND NA 188