The UMD-FBN1 mutations database
Leu to Insertion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1748HisfsX147	c.5236_5240dup	42	1747	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 1894	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 248 USA03STA F0036 I01 NA Heterozygous U.S.A NA 54
p.Gln2598ProfsX10	c.7790dup	62	2597	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2607	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 298 JAP03OSA F0009 I0001 Male Heterozygous JAPAN NA 55
p.Glu2846ArgfsX5	c.8534dup	65	2845	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2850	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 659 FRA01BOU F0200 I0239 Male Heterozygous FRANCE NA 64