The UMD-FBN1 mutations database
Leu to Arg mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu11Arg	c.32T>G	1	11	Signal peptide		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2657 FRA01BOU F0918 I0954 Female Heterozygous FRANCE NA 207
p.Leu1405Arg	c.4214T>G	34	1405	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2559 FRA01BOU F0818 I0854 Female Heterozygous FRANCE NA 207
p.Leu2815Arg	c.8444T>G	65	2815	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2522 FRA01BOU F0778 I0815 Female Heterozygous FRANCE NA 207